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
HUNK	30811	broad.mit.edu	37	21	33371051	33371051	+	Missense_Mutation	SNP	C	T	T	rs141493785	by1000genomes	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:33371051C>T	uc002yph.3	+	10	2059	c.1699C>T	c.(1699-1701)Cgc>Tgc	p.R567C		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	567					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GTCTGTGGATCGCGACGACCA	0.602000														43			20		0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55597236	55597236	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:55597236G>A	uc002qis.4	+	14	1517	c.1413G>A	c.(1411-1413)gaG>gaA	p.E471E	EPS8L1_uc010ess.1_Silent_p.E485E|EPS8L1_uc010yfr.2_Silent_p.E407E|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Silent_p.E344E|EPS8L1_uc002qiv.3_Silent_p.E149E|EPS8L1_uc002qiw.3_Silent_p.E250E	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	471						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGAATCTGAGCCTCAGCTGG	0.582000														44			29		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124351912	124351912	+	Silent	SNP	C	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:124351912C>A	uc001lgk.1	+	19	2407	c.2301C>A	c.(2299-2301)gcC>gcA	p.A767A	DMBT1_uc001lgl.1_Silent_p.A757A|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Silent_p.A767A|DMBT1_uc021qag.1_Silent_p.A757A|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Silent_p.A767A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.A380A	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	767	SRCR 6.				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)				CCAATGATGCCAATGTGGTCT	0.607000														285			8		1.06961e-07	1.08456e-07	1	1	0
EBF3	253738	broad.mit.edu	37	10	131666171	131666171	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:131666171G>A	uc021qav.1	-	8	819	c.718C>T	c.(718-720)Ccg>Tcg	p.P240S	EBF3_uc001lki.2_Missense_Mutation_p.P254S	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	263					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTGATGCACGGAGTGGCTGCT	0.632000														44			13		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71127835	71127835	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:71127835C>T	uc002ezr.3	-	10	1482	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q	HYDIN_uc010cfz.2_Missense_Mutation_p.R189Q|HYDIN_uc021tkq.1_Missense_Mutation_p.R444Q|HYDIN_uc010vmc.2_Missense_Mutation_p.R461Q|HYDIN_uc010vmd.2_Missense_Mutation_p.R471Q|HYDIN_uc002ezw.4_Missense_Mutation_p.R461Q	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	444										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)				ACGGATTTCTCGGCCTAGAAA	0.393000														21			16		0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32372984	32372984	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:32372984G>A	uc003obg.1	-	1	159	c.159C>T	c.(157-159)ctC>ctT	p.L53L	BTNL2_uc010jty.1_5'UTR|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	53	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCCTCTTGGGGAGTAGCTGGC	0.532000														59			47		0	0	1	0	0
KLK7	5650	broad.mit.edu	37	19	51485640	51485640	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:51485640G>C	uc002puo.3	-	1	118	c.16C>G	c.(16-18)Ctc>Gtc	p.L6V	KLK7_uc002pup.3_Missense_Mutation_p.L6V|KLK7_uc021uyj.1_Missense_Mutation_p.S48C|KLK7_uc010eok.3_Intron	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	6					epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		AGGGGCAGGAGAAGGGATCTT	0.597000														5			4		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81654585	81654585	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:81654585C>T	uc021ssk.1	-	3	370	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	TMC3_uc021ssj.1_Missense_Mutation_p.E124K|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.E124K	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	124						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATCCTCATTTCCCAGGGAATG	0.483000														12			5		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146254267	146254267	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:146254267C>T	uc003qlf.3	-	13	3437	c.3038G>A	c.(3037-3039)gGa>gAa	p.G1013E	SHPRH_uc003qle.3_Missense_Mutation_p.G1022E|SHPRH_uc003qlg.1_Missense_Mutation_p.G569E|SHPRH_uc003qlh.3_5'UTR	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1013					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACATTCAGTTCCACATTTCTT	0.393000														29			13		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45931079	45931079	+	Splice_Site	SNP	G	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:45931079G>T	uc010gzz.3	+	9	1046	c.899_splice	c.e9-1	p.D300_splice	FBLN1_uc003bgg.1_Splice_Site_p.D262_splice|FBLN1_uc003bgh.3_Splice_Site_p.D262_splice|FBLN1_uc003bgi.1_Splice_Site_p.D262_splice|FBLN1_uc003bgj.1_Splice_Site_p.D262_splice	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	262	EGF-like 3; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGATGTACCAGATATTGACGA	0.413000														53			17		2.35188e-11	2.40151e-11	1	1	0
MUC16	94025	broad.mit.edu	37	19	9067445	9067445	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:9067445G>A	uc002mkp.3	-	2	20205	c.20001C>T	c.(19999-20001)gaC>gaT	p.D6667D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6669	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						ATACGATGGGGTCCTGGGAGG	0.507000														62			30		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139703086	139703086	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:139703086G>A	uc003yvd.3	-	35	3233	c.2786C>T	c.(2785-2787)cCc>cTc	p.P929L	COL22A1_uc011ljo.2_Missense_Mutation_p.P229L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	929	Collagen-like 8.|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)			AGGGCCACTGGGACCGGGGGC	0.562000										HNSCC(7;0.00092)				12			8		0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100635317	100635317	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:100635317C>T	uc001von.3	+	0	1292	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	333					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGAAACCCTTCCCCTGCCCCT	0.612000														78			41		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662587	662587	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:662587C>T	uc001qii.1	+	13	1498	c.1498C>T	c.(1498-1500)Cca>Tca	p.P500S	B4GALNT3_uc001qij.1_Missense_Mutation_p.P403S|B4GALNT3_uc001qik.1_Missense_Mutation_p.P49S	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	500						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AGCGTCCTTCCCAGGGAGGAC	0.627000														68			20		0	0	1	0	0
ORC6	23594	broad.mit.edu	37	16	46729582	46729582	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:46729582C>T	uc002eeh.3	+	4	618	c.558C>T	c.(556-558)gtC>gtT	p.V186V	ORC6_uc010cbe.2_Silent_p.V137V|ORC6_uc021thp.1_Silent_p.V137V	NM_014321	NP_055136	Q9Y5N6	ORC6_HUMAN	Homo sapiens origin recognition complex, subunit 6 (ORC6), transcript variant 1, mRNA.	186					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						GACAGCAGGTCGACAGTAAGT	0.358000														25			7		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79707983	79707983	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:79707983G>A	uc011dyp.2	-	17	2231	c.2005C>T	c.(2005-2007)Cgt>Tgt	p.R669C	PHIP_uc003pir.3_Missense_Mutation_p.R669C	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	669					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTACTTAAACGGCTGGTATTA	0.378000														36			7		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48632937	48632937	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:48632937C>T	uc002ird.3	+	16	2464	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	SPATA20_uc002irc.3_Nonsense_Mutation_p.Q426*|SPATA20_uc002ire.3_Nonsense_Mutation_p.Q715*|SPATA20_uc002irf.3_Nonsense_Mutation_p.Q759*|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	759					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GTTGGAAGACCAGGCCACTGC	0.572000														41			23		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961171	30961171	+	Silent	SNP	T	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:30961171T>C	uc002yno.1	-	10	2021	c.1557A>G	c.(1555-1557)gaA>gaG	p.E519E	GRIK1_uc002ynn.3_Silent_p.E504E|GRIK1_uc011acs.2_Silent_p.E519E|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Silent_p.E362E	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	519					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GATCTATGAGTTCTTTAACCA	0.363000														62			14		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124757290	124757290	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:124757290G>A	uc001qbg.3	-	13	2302	c.2162C>T	c.(2161-2163)cCt>cTt	p.P721L	ROBO4_uc010sas.2_Missense_Mutation_p.P576L|ROBO4_uc001qbh.2_Missense_Mutation_p.P611L|ROBO4_uc001qbi.3_Missense_Mutation_p.P279L	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	721	Pro/Ser-rich.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGTTTCATGAGGAAAGAGGGG	0.617000														50			6		0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35857094	35857094	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:35857094C>T	uc002xgp.3	+	11	1745	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	RPN2_uc010gfw.2_Missense_Mutation_p.L324F|RPN2_uc002xgq.3_Missense_Mutation_p.L449F|RPN2_uc021wdb.1_Missense_Mutation_p.L263F	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	481					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CACCTACACTCTCTACTTAAT	0.483000														39			17		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123097545	123097545	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:123097545C>T	uc003vkn.3	-	11	2660	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	IQUB_uc011kny.2_Missense_Mutation_p.D28N|IQUB_uc003vko.3_Missense_Mutation_p.D695N|IQUB_uc010lkt.3_Non-coding_Transcript	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	695										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATGACCAGATCACTGAGATTG	0.468000														187			45		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698418	169698418	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:169698418G>A	uc001ggm.4	-	6	1156	c.999C>T	c.(997-999)ttC>ttT	p.F333F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	333	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCTCACAGGTGAAGTTGCAGG	0.552000														29			23		0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7612692	7612692	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:7612692C>T	uc002gis.3	+	4	1218	c.821C>T	c.(820-822)tCt>tTt	p.S274F		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	274					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				AGGGGAGGGTCTCTGGGCCTG	0.716000														19			5		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70505136	70505136	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:70505136C>T	uc011caq.2	-	2	942	c.826G>A	c.(826-828)Gat>Aat	p.D276N	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.D75N|UGT2A1_uc021xox.1_Missense_Mutation_p.D75N|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	66					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACAGGAGAATCGGGATTGGAG	0.353000														86			14		0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104263709	104263709	+	Splice_Site	SNP	A	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:104263709A>G	uc001yof.1	-	2	440	c.157_splice	c.e2+1	p.E53_splice	PPP1R13B_uc001yog.1_Splice_Site	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	53					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AATACATACCATTTCCCCTCC	0.388000														52			30		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108812287	108812287	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:108812287C>T	uc003dxl.3	-	7	772	c.685G>A	c.(685-687)Gag>Aag	p.E229K	MORC1_uc011bhn.2_Missense_Mutation_p.E229K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	229					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.L228L(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACATACTCCTCCAGAGCTCCA	0.433000														22			15		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355172	34355172	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:34355172A>G	uc001zhk.1	+	2	924	c.254A>G	c.(253-255)aAc>aGc	p.N85S	CHRM5_uc001zhl.1_Missense_Mutation_p.N85S|CHRM5_uc021sir.1_Missense_Mutation_p.N85S	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	85					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TTCTCCATGAACCTCTACACC	0.507000														22			8		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2923823	2923823	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:2923823G>A	uc010ckd.3	+	18	1775	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q	RAP1GAP2_uc010cke.3_Missense_Mutation_p.R547Q	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	562					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCCATCAAGCGACGCTCGGGG	0.622000														25			5		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589396	136589396	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:136589396C>T	uc003qgx.1	-	9	2554	c.2301G>A	c.(2299-2301)aaG>aaA	p.K767K	BCLAF1_uc011edb.1_Silent_p.K95K|BCLAF1_uc003qgy.1_Silent_p.K765K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.K765K|BCLAF1_uc003qgw.1_Silent_p.K594K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	767					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTACTCTCCTTTTCTTCTC	0.388000														67			4		0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9067432	9067432	+	Missense_Mutation	SNP	C	T	T	rs144505778	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:9067432C>T	uc009vmo.1	-	9	1129	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	377						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TAGGACAGCTCGGGGACCCTG	0.672000														57			9		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119732141	119732141	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:119732141G>A	uc002tln.1	+	6	745	c.613_splice	c.e6+1	p.G205_splice	MARCO_uc010yyf.1_Splice_Site_p.G127_splice	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	205	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGAGAGGCGGGTGAGTAGGT	0.567000														19			6		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809607	31809607	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:31809607C>T	uc001ivs.4	+	6	1407	c.1344C>T	c.(1342-1344)ccC>ccT	p.P448P	ZEB1_uc001ivr.4_Silent_p.P230P|ZEB1_uc010qef.2_Silent_p.P230P|ZEB1_uc009xlj.1_Silent_p.P374P|ZEB1_uc010qeg.1_Silent_p.P307P|ZEB1_uc009xlk.1_Silent_p.P230P|ZEB1_uc001ivu.4_Silent_p.P449P|ZEB1_uc010qeh.2_Silent_p.P381P|ZEB1_uc001ivv.4_Silent_p.P428P|ZEB1_uc001ivt.4_Silent_p.P230P|ZEB1_uc009xlo.2_Silent_p.P431P|ZEB1_uc009xlp.3_Silent_p.P432P	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	448					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATGCTTCACCCATACAACAAG	0.393000														14			11		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47805766	47805766	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:47805766C>T	uc002zji.4	+	16	3439	c.3332C>T	c.(3331-3333)tCc>tTc	p.S1111F	PCNT_uc002zjj.3_Missense_Mutation_p.S993F	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1111					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGGTTTTATCCTTAAGTCAC	0.473000														82			47		0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57177497	57177497	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:57177497G>A	uc010rjr.2	-	11	1539	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	SLC43A3_uc001nke.3_Intron|SLC43A3_uc021qjf.1_5'Flank|SLC43A3_uc001nkg.3_Silent_p.P386P|SLC43A3_uc001nkh.3_Silent_p.P386P|SLC43A3_uc009yme.3_Silent_p.P386P|SLC43A3_uc001nki.3_Silent_p.P386P	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	386					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GAGGGAGGATGGGGACTGAGG	0.627000														11			9		0	0	1	0	0
RIMKLA	284716	broad.mit.edu	37	1	42865134	42865134	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:42865134C>T	uc001chi.2	+	1	361	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	75					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TGTACGGGTACCCACACCCTC	0.557000														10			11		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412631	105412631	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:105412631C>T	uc010axc.1	-	6	9277	c.9157G>A	c.(9157-9159)Gag>Aag	p.E3053K	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.E2953K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3053						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGCTCCCTCGGGAACGTGG	0.607000														122			34		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135622837	135622837	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:135622837C>T	uc003yup.3	-	3	696	c.510G>A	c.(508-510)tcG>tcA	p.S170S	ZFAT_uc003yun.3_Silent_p.S158S|ZFAT_uc003yuo.3_Silent_p.S158S|ZFAT_uc010meh.3_Silent_p.S158S|ZFAT_uc010mej.3_Intron|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.S158S|ZFAT_uc003yur.3_Silent_p.S158S	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGTCTTTTCGAGGCTTTTT	0.438000														84			5		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560927	32560927	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:32560927C>T	uc001wrl.3	+	1	1291	c.1052C>T	c.(1051-1053)cCa>cTa	p.P351L	ARHGAP5_uc001wrm.3_Missense_Mutation_p.P351L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.P351L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	351					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ACTCTTTTGCCAAATCTAGAA	0.313000														48			18		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197080702	197080702	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:197080702C>T	uc002utm.1	-	28	4678	c.4495_splice	c.e28-1	p.F1499_splice	HECW2_uc002utl.1_Splice_Site_p.F1143_splice	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1499	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGTAACAAACTGTCAACCCA	0.507000														20			7		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086466	56086466	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:56086466G>A	uc010rjf.2	+	0	684	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTCTCAGGATGAATTCTGCTG	0.413000														25			7		0	0	1	0	0
ASPA	443	broad.mit.edu	37	17	3392538	3392538	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:3392538T>C	uc010ckg.3	+	4	627	c.536T>C	c.(535-537)gTt>gCt	p.V179A	SPATA22_uc010vrg.2_Intron|ASPA_uc002fvq.3_Missense_Mutation_p.V179A	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	Homo sapiens aspartoacylase (ASPA), transcript variant 2, mRNA.	179					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	GGTATAGAAGTTGGTCCTCAG	0.303000														55			7		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394579	154394579	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:154394579C>T	uc010jih.1	+	0	1320	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	387					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATCTACAATCCCTGATGGAG	0.468000														36			41		0	0	1	0	0
FAHD2A	51011	broad.mit.edu	37	2	96072701	96072702	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:96072701_96072702CC>TT	uc002sur.3	+	2	437_438	c.258_259CC>TT	c.(256-261)gcccag>gcTTag	p.Q87*		NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2A (FAHD2A), mRNA.	87							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CCCTGGCTGCCCAGTTGCCAGT	0.599000														15			7		0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626495	49626495	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:49626495G>A	uc002xwa.4	-	1	676	c.381C>T	c.(379-381)atC>atT	p.I127I	KCNG1_uc002xwb.3_Silent_p.I127I	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	127						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGAAGGTCAGGATAGTGCCGA	0.637000														54			13		0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30535997	30535997	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:30535997G>A	uc002dyk.4	-	1	1640	c.1464C>T	c.(1462-1464)gcC>gcT	p.A488A	ZNF768_uc010vex.2_Silent_p.A457A|ZNF768_uc010vew.2_Silent_p.A457A	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	488			A -> S (in dbSNP:rs3751848).		regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGCCGCACACGGCGCACCTGT	0.657000														25			10		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806400	54806400	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:54806400C>T	uc003pck.3	+	4	2747	c.2631C>T	c.(2629-2631)ttC>ttT	p.F877F		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	877								p.F877L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAAGCAAGTTCTTGGAAAGGG	0.428000														35			26		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672824	141672824	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:141672824C>T	uc003vwx.1	-	0	750	c.666G>A	c.(664-666)agG>agA	p.R222R		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	222					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TCCTCATGTGCCTTCCCAGGG	0.463000														78			13		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11096946	11096946	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:11096946C>T	uc021tcy.1	+	10	1317	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	CLEC16A_uc002dan.4_Missense_Mutation_p.R361W|CLEC16A_uc002dao.3_Missense_Mutation_p.R361W	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	363										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCCAGCATTCGGTGCTTCAT	0.498000														12			18		0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91428653	91428653	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:91428653G>A	uc002bpv.3	+	2	344	c.225G>A	c.(223-225)gaG>gaA	p.E75E	FES_uc010uqj.2_Intron|FES_uc010uqk.2_Intron|FES_uc002bpx.3_Silent_p.E75E|FES_uc002bpy.3_Intron|FES_uc010bny.3_Intron	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	75	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTGGGCTGAGATCACCAGCC	0.637000														27			24		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592961	38592961	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:38592961G>A	uc021wvo.1	-	26	4954	c.4902C>T	c.(4900-4902)ctC>ctT	p.L1634L	SCN5A_uc021wvk.1_Silent_p.L1601L|SCN5A_uc021wvl.1_Silent_p.L1580L|SCN5A_uc021wvm.1_Silent_p.L1616L|SCN5A_uc021wvn.1_Silent_p.L1633L|SCN5A_uc021wvp.1_Silent_p.L1634L|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.L1446L|SCN5A_uc021wvi.1_Silent_p.L1500L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1634					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGATCAGTCTGAGGATGCGGC	0.597000														61			29		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41581128	41581128	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:41581128G>A	uc003xok.3	-	7	819	c.735C>T	c.(733-735)atC>atT	p.I245I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.I245I|ANK1_uc003xoj.3_Silent_p.I245I|ANK1_uc003xol.3_Silent_p.I245I|ANK1_uc003xom.3_Silent_p.I278I	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	245	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCGGGAGGCGATGTGCAGTG	0.632000														49			33		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759176	6759176	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:6759176C>A	uc002wmu.1	+	2	1416	c.631C>A	c.(631-633)Ccc>Acc	p.P211T		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	211					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	TGATGTCACCCCCGCTGTGAT	0.527000														21			18		3.32936e-07	3.37194e-07	1	1	0
APOB	338	broad.mit.edu	37	2	21234589	21234589	+	Missense_Mutation	SNP	C	T	T	rs148451559	by1000genomes	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:21234589C>T	uc002red.3	-	25	5279	c.5151G>A	c.(5149-5151)atG>atA	p.M1717I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1717					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACCCAGAATCATGGCCTGAT	0.443000														123			50		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228955	3228955	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:3228955G>A	uc004crg.4	-	6	7446	c.7289C>T	c.(7288-7290)aCg>aTg	p.T2430M		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2430	Ig-like C2-type 8.					extracellular region		p.T2430M(3)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AATCCACACCGTCTTCCTATC	0.562000														15			28		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588705	247588705	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:247588705G>A	uc001icr.3	+	4	2098	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	NLRP3_uc001ics.3_Missense_Mutation_p.E654K|NLRP3_uc001icu.3_Missense_Mutation_p.E654K|NLRP3_uc001icw.3_Missense_Mutation_p.E654K|NLRP3_uc001icv.3_Missense_Mutation_p.E654K|NLRP3_uc010pyw.2_Missense_Mutation_p.E652K|NLRP3_uc001ict.1_Missense_Mutation_p.E652K	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	654					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCCCAAGATTGAGATCAATCT	0.498000														32			11		0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43804559	43804559	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:43804559C>T	uc002xng.3	+	1	161	c.137C>T	c.(136-138)cCc>cTc	p.P46L		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	46	2 X tandem repeats of SVP-1 like motif.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GGACAAGATCCCGTTAAAGGA	0.453000														78			5		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666459	167666459	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:167666459G>A	uc001gem.3	+	5	785	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	RCSD1_uc010pli.2_Missense_Mutation_p.E170K	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	200										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CGGTGCTAAGGAAGAGGATGG	0.587000														51			10		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45293673	45293673	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:45293673C>T	uc010olf.2	-	13	1912	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	PTCH2_uc021omv.1_Missense_Mutation_p.E634K|PTCH2_uc010olg.2_Missense_Mutation_p.E332K	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	634					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGAAGAGCTCAGAGCCCAGT	0.632000									Basal Cell Nevus syndrome					67			35		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108652248	108652248	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:108652248T>A	uc022cch.1	-	7	2026	c.1941A>T	c.(1939-1941)aaA>aaT	p.K647N	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.K647N	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	647	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGAGTGATGATTTAAACATCC	0.373000														18			30		0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53715120	53715120	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:53715120C>A	uc001cvi.2	-	17	3022	c.2785G>T	c.(2785-2787)Gaa>Taa	p.E929*	LRP8_uc001cvh.2_Intron|LRP8_uc001cvj.2_Intron|LRP8_uc001cvk.2_Nonsense_Mutation_p.E759*|LRP8_uc001cvl.2_Intron	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	929					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GACCTTGgttcccccggcaag	0.592000														39			28		2.49675e-24	2.56145e-24	1	1	0
FAM123A	219287	broad.mit.edu	37	13	25745442	25745442	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:25745442G>A	uc001uqb.3	-	0	416	c.316C>T	c.(316-318)Cac>Tac	p.H106Y	FAM123A_uc001uqa.3_Missense_Mutation_p.H106Y|FAM123A_uc001uqc.3_Missense_Mutation_p.H106Y	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.	106	Gly-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGTCCGTCGTGGGTCCTGCTC	0.692000														29			8		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163072460	163072460	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:163072460G>A	uc002ucd.3	-	9	1022	c.814C>T	c.(814-816)Cct>Tct	p.P272S	FAP_uc010zct.2_Missense_Mutation_p.P247S|FAP_uc010fpe.1_Missense_Mutation_p.P239S	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	272					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ACATACGCAGGGTAAGTGGTA	0.423000														33			20		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98994258	98994258	+	Silent	SNP	C	T	T	rs145057274	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:98994258C>T	uc010fij.3	+	1	198	c.57C>T	c.(55-57)atC>atT	p.I19I	CNGA3_uc002syt.3_Silent_p.I70I|CNGA3_uc002syu.3_Silent_p.I70I			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	0					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCCAGGGGATCGCCAGGTAAC	0.607000														20			5		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156622	94156622	+	Silent	SNP	C	T	T	rs143380002	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:94156622C>T	uc001ybv.1	+	43	6980	c.6897C>T	c.(6895-6897)atC>atT	p.I2299I	UNC79_uc001ybs.1_Silent_p.I2277I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2454						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTATTGTTATCCTGATTGGAT	0.463000														29			27		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3102553	3102553	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:3102553G>A	uc002klp.3	-	22	3828	c.3494C>T	c.(3493-3495)cCa>cTa	p.P1165L	MYOM1_uc002klq.3_Missense_Mutation_p.P1069L	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1165	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTCGGACTTTGGAGTCATCTT	0.423000														57			34		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247719744	247719744	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:247719744G>A	uc001idf.3	+	1	212	c.65G>A	c.(64-66)gGa>gAa	p.G22E	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	22										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	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;0.0241)			CCCAAGAAAGGAAACCCAGAT	0.368000														13			8		0	0	1	0	0
TSPAN1	10103	broad.mit.edu	37	1	46650978	46650978	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:46650978G>A	uc001cpd.3	+	7	1150	c.676G>A	c.(676-678)Gag>Aag	p.E226K		NM_005727	NP_005718	O60635	TSN1_HUMAN	Homo sapiens tetraspanin 1 (TSPAN1), mRNA.	226						integral to membrane|lysosomal membrane				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				TGGGGGCCTCGAGGTAAGCAG	0.542000														102			58		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842640	4842640	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:4842640C>T	uc010qyn.2	+	0	25	c.25C>T	c.(25-27)Cag>Tag	p.Q9*		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTGTCTTCTCAGTGCTTCCC	0.423000														106			70		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237982396	237982396	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:237982396G>A	uc001hyl.1	+	100	14614	c.14494G>A	c.(14494-14496)Gaa>Aaa	p.E4832K	RYR2_uc010pyb.1_Missense_Mutation_p.E265K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4832					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.D4831H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGATGAAATCGAAGACCCAGC	0.408000														27			21		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814222	137814222	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:137814222C>T	uc002tva.1	+	1	279	c.279C>T	c.(277-279)gtC>gtT	p.V93V	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCGGTGAAGTCAAGCCTCGGA	0.537000														29			20		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142641808	142641808	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:142641808C>T	uc003wcb.3	-	11	1545	c.1335G>A	c.(1333-1335)gcG>gcA	p.A445A		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	445					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.A445A(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CATCCCGGATCGCAGTGAATA	0.602000														40			4		0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45868120	45868120	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:45868120G>A	uc002pbj.2	-	6	617	c.570C>T	c.(568-570)tgC>tgT	p.C190C	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Intron|ERCC2_uc002pbk.2_Silent_p.C166C|ERCC2_uc002pbl.4_Silent_p.C166C|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	190	Helicase ATP-binding.				UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGAAGTATGGGCACCAGCCCT	0.652000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					16			4		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35993880	35993880	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:35993880G>A	uc004ddj.3	+	14	2629	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	855										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATCTTCTAATGAGCTAGTATT	0.433000														29			45		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160784336	160784336	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:160784336C>T	uc001fwu.3	+	3	907	c.857C>T	c.(856-858)aCa>aTa	p.T286I	LY9_uc010pjs.1_Missense_Mutation_p.T286I|LY9_uc001fwv.3_Missense_Mutation_p.T286I|LY9_uc001fww.3_Missense_Mutation_p.T286I|LY9_uc001fwy.1_Missense_Mutation_p.T188I|LY9_uc001fwz.3_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	286	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.T286K(2)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTGTTTAACACATCCATCATT	0.552000														95			12		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612586	53612586	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:53612586G>A	uc002qax.3	-	6	1205	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	ZNF415_uc010yds.2_Missense_Mutation_p.H238Y|ZNF415_uc010ydt.2_Missense_Mutation_p.H238Y|ZNF415_uc002qau.3_Missense_Mutation_p.H225Y|ZNF415_uc002qav.3_Missense_Mutation_p.H250Y|ZNF415_uc002qaw.3_Missense_Mutation_p.H238Y|ZNF415_uc002qay.3_Missense_Mutation_p.H225Y|ZNF415_uc002qaz.3_Missense_Mutation_p.H286Y|ZNF415_uc002qba.3_Missense_Mutation_p.H8Y			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TCTCCAGAATGACTTACCTGA	0.408000														55			10		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47304072	47304072	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:47304072C>T	uc001ner.1	+	8	1801	c.1610C>T	c.(1609-1611)cCt>cTt	p.P537L	MADD_uc001neq.2_Missense_Mutation_p.P537L|MADD_uc001nev.1_Missense_Mutation_p.P537L|MADD_uc001nes.1_Missense_Mutation_p.P537L|MADD_uc001net.1_Missense_Mutation_p.P537L|MADD_uc009yln.1_Missense_Mutation_p.P537L|MADD_uc001neu.1_Missense_Mutation_p.P537L|MADD_uc001nez.2_Missense_Mutation_p.P537L|MADD_uc001new.2_Missense_Mutation_p.P537L|MADD_uc001nex.2_Missense_Mutation_p.P537L	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	537	dDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CGGCAGACTCCTTTTGCCGAG	0.542000														35			4		0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142637553	142637553	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:142637553T>C	uc003wca.2	+	1	364	c.323T>C	c.(322-324)gTt>gCt	p.V108A		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	83						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					ACGGCAGCTGTTCACAAGCAC	0.542000														222			8		0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77750178	77750178	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:77750178G>A	uc001xti.2	-	14	1816	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S	POMT2_uc001xth.1_Missense_Mutation_p.P237S	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	539					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AAGATCTCAGGAAAACTGGGC	0.473000														50			30		0	0	1	0	0
C3orf43	255798	broad.mit.edu	37	3	196236500	196236500	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:196236500C>T	uc003fws.3	-	1	248	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	C3orf43_uc003fwr.3_Missense_Mutation_p.E23K	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	Homo sapiens chromosome 3 open reading frame 43 (C3orf43), mRNA.	31						integral to membrane				NS(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	8	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)		AAGTCTAGTTCTTTGAACTGT	0.418000														45			35		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159493904	159493904	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:159493904G>A	uc003ipz.3	+	1	367	c.104G>A	c.(103-105)gGg>gAg	p.G35E	RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_5'UTR|RXFP1_uc010iqo.3_Missense_Mutation_p.G35E|RXFP1_uc011cjb.2_5'UTR|RXFP1_uc011cjc.2_5'UTR|RXFP1_uc011cjd.2_5'UTR|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Missense_Mutation_p.G35E|RXFP1_uc010iqm.3_Missense_Mutation_p.G35E|RXFP1_uc011cjf.2_5'UTR|RXFP1_uc010iqn.3_Intron	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	35	LDL-receptor class A.					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)		TTCCCCTGTGGGAACATCACA	0.527000														55			26		0	0	1	0	0
RNF166	115992	broad.mit.edu	37	16	88766109	88766109	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:88766109G>A	uc002flk.3	-	2	440	c.344C>T	c.(343-345)tCg>tTg	p.S115L	RNF166_uc021tmn.1_Missense_Mutation_p.S6L|RNF166_uc021tmo.1_Intron	NM_178841	NP_001165287	Q96A37	RN166_HUMAN	Homo sapiens ring finger protein 166 (RNF166), transcript variant 1, mRNA.	115						intracellular	zinc ion binding			endometrium(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CAGGCAGGACGAAATGTGCAC	0.632000														14			5		0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1578648	1578648	+	Silent	SNP	C	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:1578648C>A	uc001lts.2	-	6	1106	c.978G>T	c.(976-978)ggG>ggT	p.G326G	MOB2_uc001ltq.2_Intron	NM_004420	NP_004411	Q13202	DUS8_HUMAN	Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.	326	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GCAGCGGGGCCCCGGCGGCAG	0.766000														10			8		5.4927e-09	5.58243e-09	1	1	0
ADAMTS6	11174	broad.mit.edu	37	5	64595916	64595916	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:64595916C>T	uc003jtp.3	-	9	2080	c.1266G>A	c.(1264-1266)acG>acA	p.T422T	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.T43T	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	422	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CATGACCTTTCGTCCCACAAG	0.388000														29			6		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38647384	38647384	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:38647384C>T	uc010qex.1	+	1	255	c.180C>T	c.(178-180)gtC>gtT	p.V60V	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc010qew.1_Silent_p.V60V|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Silent_p.V60V					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCACCATTGTCCAGGTGGATG	0.493000														12			8		0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113212514	113212514	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:113212514G>A	uc001vse.1	-	4	731	c.544C>T	c.(544-546)Cca>Tca	p.P182S	TUBGCP3_uc010tjq.1_Missense_Mutation_p.P172S|TUBGCP3_uc001vsf.3_Missense_Mutation_p.P182S|TUBGCP3_uc001vsg.1_Missense_Mutation_p.P182S	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	182					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CCTTACCCTGGGAGGAGAGAT	0.577000														30			14		0	0	1	0	0
PPIA	5478	broad.mit.edu	37	7	44838999	44838999	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:44838999C>T	uc003tlw.3	+	2	192	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	PPIA_uc003tlx.3_Non-coding_Transcript|PPIA_uc010kyl.3_Non-coding_Transcript	NM_021130	NP_066953	P62937	PPIA_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A) (PPIA), mRNA.	37	PPIase cyclophilin-type.				RNA-dependent DNA replication|entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	AGAAAATTTTCGTGCTCTGAG	0.313000														69			21		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220809193	220809193	+	Missense_Mutation	SNP	C	T	T	rs145170499		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:220809193C>T	uc009xdw.3	+	12	1892	c.1295C>T	c.(1294-1296)cCt>cTt	p.P432L	MARK1_uc001hmn.4_Missense_Mutation_p.P432L|MARK1_uc010pun.2_Missense_Mutation_p.P432L|MARK1_uc001hmm.4_Missense_Mutation_p.P410L	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	432					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P432L(2)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TCCATTCCTCCTGCTGTATCA	0.383000														38			22		0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145608180	145608180	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:145608180G>A	uc001eog.3	-	3	599	c.556C>T	c.(556-558)Cca>Tca	p.P186S	RNF115_uc001eoj.3_5'Flank|POLR3C_uc001eoh.3_Missense_Mutation_p.P173S|POLR3C_uc009wix.3_Missense_Mutation_p.P173S	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.	173					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.K185N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GGTGGTGGTGGCCCAGGGTCT	0.483000														78			29		0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152818	151152818	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:151152818C>T	uc011eem.1	+	14	2836	c.2748C>T	c.(2746-2748)ctC>ctT	p.L916L	PLEKHG1_uc011eel.1_Silent_p.L897L|PLEKHG1_uc003qny.1_Silent_p.L857L|PLEKHG1_uc003qnz.2_Silent_p.L857L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	857					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGACCGTCTCCTGGCAGCGT	0.522000														43			13		0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60932705	60932705	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:60932705C>T	uc001xez.4	-	10	1074	c.964G>A	c.(964-966)Gat>Aat	p.D322N	C14orf39_uc010apo.3_Missense_Mutation_p.D33N	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	322										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ACCTGTGTATCATTTTCTTTT	0.313000														14			5		0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95560349	95560349	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:95560349G>A	uc001ydw.2	-	24	5452	c.5240C>T	c.(5239-5241)tCg>tTg	p.S1747L	DICER1_uc010avh.1_Missense_Mutation_p.S645L|DICER1_uc021sbc.1_Missense_Mutation_p.S1747L|DICER1_uc001ydv.2_Missense_Mutation_p.S1737L|DICER1_uc001ydx.2_Missense_Mutation_p.S1747L	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1747	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.S1747L(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TACAGCCAGCGATGCAAAGAT	0.507000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					37			28		0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999774	45999774	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:45999774T>C	uc002zfl.1	-	0	708	c.682A>G	c.(682-684)Ata>Gta	p.I228V	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	228	22 X 5 AA repeats of C-C-X(3).					keratin filament		p.I228V(2)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGCCTGCATATGGGGCGGCAG	0.682000														149			4		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508761	37508761	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:37508761T>C	uc021ppc.1	+	33	4052	c.3953T>C	c.(3952-3954)tTt>tCt	p.F1318S	ANKRD30A_uc001iza.1_Missense_Mutation_p.F1318S	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1374						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGGAGATATTTAATTACAAT	0.269000														5			6		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21689921	21689921	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:21689921C>T	uc001rfb.3	-	15	2334	c.2079G>A	c.(2077-2079)ggG>ggA	p.G693G		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	693					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTTTTTCTTCCCATGAGGAA	0.368000														34			21		0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27321460	27321460	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:27321460G>A	uc010lur.3	-	5	1109	c.500C>T	c.(499-501)tCc>tTc	p.S167F	CHRNA2_uc011lal.2_Missense_Mutation_p.S152F|CHRNA2_uc010lus.3_Intron	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	167						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	AGTGCCCGTGGAGAAGAGGTG	0.602000														49			22		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183651370	183651370	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:183651370G>A	uc003ivd.1	+	13	2678	c.2603G>A	c.(2602-2604)aGa>aAa	p.R868K	ODZ3_uc003ive.1_Missense_Mutation_p.R274K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	868					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TCTGTCATCAGAGGCCAAGTA	0.403000														43			21		0	0	1	0	0
LEP	3952	broad.mit.edu	37	7	127894505	127894505	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:127894505G>A	uc003vml.2	+	2	250	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	LEP_uc003vmm.2_Missense_Mutation_p.G64R	NM_000230	NP_000221	P41159	LEP_HUMAN	Homo sapiens leptin (LEP), mRNA.	65					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						CTTCATTCCTGGGCTCCACCC	0.512000														179			47		0	0	1	0	0
PEX2	5828	broad.mit.edu	37	8	77895944	77895944	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:77895944G>A	uc022awg.1	-	0	471	c.471C>T	c.(469-471)ttC>ttT	p.F157F	PEX2_uc003yax.3_Silent_p.F157F|PEX2_uc003yay.3_Silent_p.F157F|PEX2_uc022awe.1_Silent_p.F157F|PEX2_uc022awf.1_Silent_p.F157F	NM_001172087	NP_001165558	P28328	PEX2_HUMAN	Homo sapiens peroxisomal biogenesis factor 2 (PEX2), transcript variant 4, mRNA.	157					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CCCTCTGAAGGAAAATCAAAA	0.363000														44			19		0	0	1	0	0
SLC37A4	2542	broad.mit.edu	37	11	118898961	118898961	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:118898961G>A	uc010ryr.1	-	3	765	c.324C>T	c.(322-324)ttC>ttT	p.F108F	SLC37A4_uc009zan.2_Non-coding_Transcript|SLC37A4_uc010rys.1_Silent_p.F108F|SLC37A4_uc010ryt.1_Silent_p.F35F|SLC37A4_uc001pus.2_Silent_p.F108F	NM_001164278	NP_001157750	O43826	G6PT1_HUMAN	Homo sapiens solute carrier family 37 (glucose-6-phosphate transporter), member 4 (SLC37A4), transcript variant 2, mRNA.	108					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGCCATTAAGGAACCAGAGGG	0.577000														8			4		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102298	168102298	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:168102298G>A	uc002udx.3	+	8	4485	c.4396G>A	c.(4396-4398)Gga>Aga	p.G1466R	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G1291R|XIRP2_uc010fpq.3_Missense_Mutation_p.G1244R|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1291					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAACTGAGAGGAGAAGGGTT	0.368000														51			19		0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13645355	13645355	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:13645355G>A	uc004cvj.3	+	10	1801	c.1514G>A	c.(1513-1515)gGg>gAg	p.G505E	EGFL6_uc004cvi.3_Missense_Mutation_p.G504E	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	504	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGGAAGACAGGGAAAATTCAG	0.398000														19			42		0	0	1	0	0
RBP1	5947	broad.mit.edu	37	3	139237343	139237343	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:139237343C>T	uc003eti.2	-	2	571	c.460G>A	c.(460-462)Gac>Aac	p.D154N		NM_002899	NP_002890	P09455	RET1_HUMAN	Homo sapiens retinol binding protein 1, cellular (RBP1), transcript variant 1, mRNA.	92						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	TGGAGCTTGTCTCCGTCCCAG	0.607000														20			21		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7606535	7606535	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:7606535C>T	uc010xjq.2	+	10	1400	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	PNPLA6_uc002mgq.2_Missense_Mutation_p.P339L|PNPLA6_uc010xjp.2_Missense_Mutation_p.P339L|PNPLA6_uc002mgr.2_Missense_Mutation_p.P339L|PNPLA6_uc002mgs.3_Missense_Mutation_p.P378L	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	378					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGGCGGCCACCCGATCCCACC	0.711000														11			6		0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133595982	133595982	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:133595982C>T	uc003ytk.3	-	10	1259	c.1185G>A	c.(1183-1185)atG>atA	p.M395I	LRRC6_uc022bbp.1_Missense_Mutation_p.M395I|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	395	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGGTAGTTTTCATAGATTTGA	0.398000														41			20		0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3330465	3330465	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:3330465C>A	uc003zhr.3	-	4	580	c.268G>T	c.(268-270)Gga>Tga	p.G90*	RFX3_uc010mhd.3_Nonsense_Mutation_p.G90*|RFX3_uc003zhs.1_Nonsense_Mutation_p.G90*|RFX3_uc003zht.1_Nonsense_Mutation_p.G90*|RFX3_uc010mhe.1_Nonsense_Mutation_p.G90*	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	90					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TAATTCCCTCCAGTATTTTGG	0.448000														32			23		5.35356e-11	5.46013e-11	1	1	0
RASSF10	644943	broad.mit.edu	37	11	13032484	13032484	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:13032484C>T	uc021qdz.1	+	0	1515	c.1361C>T	c.(1360-1362)cCc>cTc	p.P454L		NM_001080521	NP_001073990	A6NK89	RASFA_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 (RASSF10), mRNA.	454					signal transduction										Epithelial(150;0.00399)		TCTGGCAGTCCCTCGCGGGAA	0.637000														34			7		0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627388	187627388	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:187627388G>T	uc002ups.3	+	7	2431	c.2319G>T	c.(2317-2319)gaG>gaT	p.E773D	FAM171B_uc002upr.1_Missense_Mutation_p.E740D|FAM171B_uc002upt.3_Missense_Mutation_p.E242D	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	773						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGATCATGGAGCACCCTGGAG	0.502000														27			17		1.45105e-14	1.48515e-14	1	1	0
LOC644936	644936	broad.mit.edu	37	5	79595799	79595799	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:79595799C>T	uc010jai.3	-	0	499	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		AAGGTAGTTTCGTGGATGCCA	0.522000														133			8		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600950	41600950	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:41600950C>T	uc002opt.3	+	7	1257	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	416					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CCCAGCACTTCCTGGATAAGA	0.567000														132			21		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026682	153026682	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:153026682C>T	uc011dcy.2	+	2	472	c.445C>T	c.(445-447)Cat>Tat	p.H149Y	GRIA1_uc003lva.4_Missense_Mutation_p.H139Y|GRIA1_uc003luy.4_Missense_Mutation_p.H139Y|GRIA1_uc003luz.4_Missense_Mutation_p.H44Y|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Missense_Mutation_p.H70Y|GRIA1_uc011dcz.2_Missense_Mutation_p.H149Y|GRIA1_uc010jia.1_Missense_Mutation_p.H119Y	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	139					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATCATTGACCATTACAAGTG	0.493000														27			31		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98380287	98380287	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:98380287C>T	uc001kmq.3	-	11	1891	c.1763G>A	c.(1762-1764)aGg>aAg	p.R588K	PIK3AP1_uc001kmo.3_Missense_Mutation_p.R187K|PIK3AP1_uc001kmp.3_Missense_Mutation_p.R410K	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	588						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CGACTGGGGCCTGTCCCTCCA	0.572000														32			9		0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211534	249211534	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:249211534C>T	uc001ifh.3	+	2	898	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	PGBD2_uc001ifg.3_5'UTR|PGBD2_uc009xhd.3_Missense_Mutation_p.R248W|PGBD2_uc021pmh.1_5'Flank	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	251										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTCATCATCCGGATGAACTG	0.458000														91			16		0	0	1	0	0
CTSS	1520	broad.mit.edu	37	1	150722617	150722617	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:150722617G>A	uc001evn.3	-	5	919	c.658C>T	c.(658-660)Cgt>Tgt	p.R220C	CTSS_uc010pcj.2_Missense_Mutation_p.R170C	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	220					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGCAGCACGATATTTTGAG	0.393000														14			14		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21965074	21965074	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:21965074C>T	uc001rfh.3	-	33	4140	c.4120G>A	c.(4120-4122)Ggg>Agg	p.G1374R	ABCC9_uc001rfi.1_Missense_Mutation_p.G1374R	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1374	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGTCTATCCCATCAATGACA	0.328000														44			18		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885559	29885559	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:29885559G>A	uc003afo.3	+	3	2001	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	KIAA0845_uc003afp.3_Intron	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	644	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCAACGAAGGAGGAAGCAAA	0.562000														24			18		0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208864	65208864	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:65208864C>T	uc001xhp.2	+	15	3031	c.2992C>T	c.(2992-2994)Ccg>Tcg	p.P998S	PLEKHG3_uc001xhn.1_Missense_Mutation_p.P821S|PLEKHG3_uc001xho.1_Missense_Mutation_p.P877S|PLEKHG3_uc010aqh.1_Missense_Mutation_p.P419S|PLEKHG3_uc001xhq.1_Missense_Mutation_p.P382S	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	877					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGGGCGCAGCCCGGCCCACCT	0.667000														28			12		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452913	138452913	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:138452913C>T	uc003ihe.4	-	0	717	c.330G>A	c.(328-330)gtG>gtA	p.V110V	PCDH18_uc003ihf.4_Silent_p.V103V|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	110	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D109Y(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTAGAGTGATCACATCAAACT	0.408000														81			50		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462708	5462708	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:5462708C>T	uc002gci.3	-	3	1863	c.1308G>A	c.(1306-1308)gcG>gcA	p.A436A	NLRP1_uc002gcg.1_Silent_p.A436A|NLRP1_uc002gch.4_Silent_p.A436A|NLRP1_uc002gck.3_Silent_p.A436A|NLRP1_uc002gcj.3_Silent_p.A436A|NLRP1_uc002gcl.3_Silent_p.A436A|NLRP1_uc010clh.3_Silent_p.A436A	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	436	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.A436A(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCAGTGCATCCGCCGGCTGTG	0.577000														11			6		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2160643	2160643	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:2160643C>T	uc002cos.1	-	14	4734	c.4525G>A	c.(4525-4527)Gag>Aag	p.E1509K	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.E1509K	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1509	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCGGACCCTCGAGCCACCCA	0.662000														61			15		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046766	175046766	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:175046766C>T	uc001gkl.1	+	1	325	c.212C>T	c.(211-213)tCg>tTg	p.S71L	TNN_uc010pmx.1_Missense_Mutation_p.S71L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	71					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GATGGGGCTTCGCTCTTGGCC	0.587000														38			17		0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891697	6891697	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:6891697T>A	uc001meu.1	+	0	712	c.712T>A	c.(712-714)Ttc>Atc	p.F238I		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGTCTCTCTTTTCTATATATC	0.423000														109			27		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924369	70924369	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:70924369G>A	uc021rvq.1	+	0	153	c.153G>A	c.(151-153)agG>agA	p.R51R	ADAM21_uc001xmd.3_Silent_p.R51R	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	51					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGATCAGCAGGGGCAGAAGTG	0.527000														107			24		0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51475452	51475452	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:51475452G>A	uc003dbe.2	-	7	1160	c.975C>T	c.(973-975)atC>atT	p.I325I	VPRBP_uc021wys.1_Silent_p.I324I|VPRBP_uc003dbg.2_Silent_p.I325I	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	325					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GTCGCTGCTCGATAGCAGGAG	0.433000														10			8		0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	T	T	rs113059833	by1000genomes	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:39261693A>T	uc010wfp.2	+	0	53	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	18						keratin filament		p.D18V(2)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000														31			4		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234846064	234846064	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:234846064G>A	uc002vvh.3	+	3	299	c.259G>A	c.(259-261)Gag>Aag	p.E87K	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Missense_Mutation_p.E37K|TRPM8_uc002vvj.3_Missense_Mutation_p.E10K	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	87						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CAACCAAAGTGAGAAATGGAA	0.493000														64			19		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124377610	124377610	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:124377610G>A	uc001lgk.1	+	37	4688	c.4582G>A	c.(4582-4584)Ggc>Agc	p.G1528S	DMBT1_uc001lgl.1_Missense_Mutation_p.G1518S|DMBT1_uc001lgm.1_Missense_Mutation_p.G900S|DMBT1_uc021qaf.1_Missense_Mutation_p.G1528S|DMBT1_uc021qag.1_Missense_Mutation_p.G1518S|DMBT1_uc021qah.1_Missense_Mutation_p.G900S|DMBT1_uc009xzz.1_Missense_Mutation_p.G1528S|DMBT1_uc010qtx.1_Missense_Mutation_p.G379S|DMBT1_uc009yab.1_Missense_Mutation_p.G231S|DMBT1_uc009yac.1_5'Flank	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1528	SRCR 12.				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	p.Q1527H(1)		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)				CCTATACCAAGGCTCCTGGGG	0.582000														313			53		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514189	157514189	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:157514189C>T	uc009wsm.3	-	4	865	c.707G>A	c.(706-708)gGa>gAa	p.G236E	FCRL5_uc001fqu.3_Missense_Mutation_p.G236E|FCRL5_uc010phv.1_Missense_Mutation_p.G236E|FCRL5_uc010phw.1_Missense_Mutation_p.G151E|FCRL5_uc001fqv.1_Missense_Mutation_p.G236E|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	236	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCAGCCTAATCCCAGGGTCTG	0.542000														131			71		0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21608287	21608287	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:21608287C>T	uc003wzu.1	-	3	1282	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	GFRA2_uc003wzv.1_Missense_Mutation_p.A98T|GFRA2_uc003wzw.1_Missense_Mutation_p.A70T|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.	203						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TGGCGCAGGGCCTTGTGGCAC	0.637000														78			12		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682549	100682549	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:100682549G>T	uc003uxp.1	+	2	7905	c.7852G>T	c.(7852-7854)Gca>Tca	p.A2618S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2618	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTACAACTGCAAAAGATAC	0.468000														333			109		1.44639e-49	1.48562e-49	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76022285	76022285	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:76022285G>A	uc010kbe.3	-	5	3802	c.3272C>T	c.(3271-3273)cCa>cTa	p.P1091L	FILIP1_uc003phy.1_Missense_Mutation_p.P1088L|FILIP1_uc003phz.3_Missense_Mutation_p.P989L|FILIP1_uc003pia.3_Missense_Mutation_p.P1088L|FILIP1_uc003pib.1_Missense_Mutation_p.P840L	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	1088										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGTAATAACTGGACTGACTCC	0.498000														62			42		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101302	80101302	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:80101302G>A	uc010ysh.2	+	4	691	c.686G>A	c.(685-687)cGc>cAc	p.R229H	CTNNA2_uc010yse.2_Missense_Mutation_p.R229H|CTNNA2_uc010ysf.2_Missense_Mutation_p.R229H|CTNNA2_uc010ysg.2_Missense_Mutation_p.R229H	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	229					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.R229H(3)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCATTTCTCCGCCACCCAGAT	0.572000														43			6		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524267	112524267	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:112524267G>A	uc001ebu.1	-	1	1562	c.1082C>T	c.(1081-1083)aCc>aTc	p.T361I	KCND3_uc001ebv.1_Missense_Mutation_p.T361I	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	361						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.Y360H(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGTGACAATGGTGTACCAAAA	0.542000														35			21		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36341986	36341986	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:36341986G>A	uc002oby.3	-	3	559	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	135					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCAGCTTGGGAGGAACTGGT	0.602000														38			13		0	0	1	0	0
FAM96B	51647	broad.mit.edu	37	16	66968234	66968234	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:66968234G>A	uc021tjy.1	-	0	87	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	CES2_uc002eqr.3_5'Flank|CES2_uc002eqq.3_5'Flank|CES2_uc002eqs.3_5'Flank	NM_016062	NP_057146	Q9Y3D0	MIP18_HUMAN	Homo sapiens family with sequence similarity 96, member B (FAM96B), transcript variant 1, mRNA.	12					chromosome segregation	MMXD complex|cytoplasm|nucleus	protein binding			kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCATTCTCCAGGAGGCCGCCG	0.692000														6			8		0	0	1	0	0
C5orf44	80006	broad.mit.edu	37	5	64946640	64946640	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:64946640G>A	uc003jua.4	+	5	762	c.432G>A	c.(430-432)ttG>ttA	p.L144L	C5orf44_uc003jtz.4_Silent_p.L144L|C5orf44_uc010iwv.3_Silent_p.L144L|C5orf44_uc003juc.4_Silent_p.L144L	NM_001093755	NP_001087224	A5PLN9	CE044_HUMAN	Homo sapiens chromosome 5 open reading frame 44 (C5orf44), transcript variant 1, mRNA.	144										kidney(4)|large_intestine(2)|lung(1)|ovary(1)	8						GTTTCAGCTTGGTATGTGCTG	0.294000														15			8		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	22078774	22078774	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:22078774C>T	uc010iuc.2	-	1	470	c.12G>A	c.(10-12)agG>agA	p.R4R	CDH12_uc011cno.1_Silent_p.R4R|CDH12_uc003jgk.2_Silent_p.R4R	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	4					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						ATAAACAGTTCCTTGTAAGCA	0.463000										HNSCC(59;0.17)				84			10		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40877407	40877407	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:40877407G>A	uc002xkg.3	-	13	2416	c.2232C>T	c.(2230-2232)acC>acT	p.T744T	PTPRT_uc010ggj.3_Silent_p.T763T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	744					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCATCTTCACGGTGTTGTCCA	0.532000														28			19		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31997559	31997559	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:31997559G>A	uc011dpd.2	+	28	3944	c.3893G>A	c.(3892-3894)gGa>gAa	p.G1298E	C4B_uc011dpe.2_Missense_Mutation_p.G1298E	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1298					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TTCCAAGGGGGATTCCGCAGT	0.652000														99			21		0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41657540	41657540	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:41657540G>A	uc003azs.3	-	4	1995	c.525C>T	c.(523-525)gcC>gcT	p.A175A	RANGAP1_uc003azt.3_Silent_p.A175A|RANGAP1_uc003azu.3_Silent_p.A175A|RANGAP1_uc011aoz.2_Intron	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	175					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTTGCCTTGGGCACTGGATT	0.602000														161			7		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409515	80409515	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:80409515C>T	uc003kha.2	+	14	2296	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	749	N-terminal Ras-GEF.|Regulates proteasomal degradation (By similarity).				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCTTTGACTTCTCCCTTGAAC	0.562000														49			130		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762788	176762788	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:176762788G>A	uc001gkz.3	+	19	6277	c.5113G>A	c.(5113-5115)Gaa>Aaa	p.E1705K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1705	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCACTGGATGGAACCTGTCAA	0.478000														40			11		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318664	48318664	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:48318664A>T	uc003toq.2	+	17	7897	c.7873A>T	c.(7873-7875)Atg>Ttg	p.M2625L	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2625					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACTCTCATATATGAACCAATC	0.358000														30			9		0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310597	124310597	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:124310597G>A	uc010sal.2	-	0	385	c.385C>T	c.(385-387)Cca>Tca	p.P129S		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TACAACAGTGGGTTACAGATG	0.507000														23			13		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18668982	18668982	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:18668982C>T	uc003sui.3	+	5	715	c.674C>T	c.(673-675)cCc>cTc	p.P225L	HDAC9_uc003sue.3_Missense_Mutation_p.P222L|HDAC9_uc011jyd.2_Missense_Mutation_p.P222L|HDAC9_uc003suh.3_Missense_Mutation_p.P222L|HDAC9_uc003suj.3_Intron|HDAC9_uc011jya.2_Intron|HDAC9_uc003sua.1_Intron|HDAC9_uc003sud.2_Missense_Mutation_p.P222L|HDAC9_uc011jyc.2_Intron|HDAC9_uc011jyb.2_Intron|HDAC9_uc003suf.2_Missense_Mutation_p.P253L|HDAC9_uc010kud.2_Missense_Mutation_p.P225L|HDAC9_uc011jye.2_Missense_Mutation_p.P194L|HDAC9_uc011jyf.2_Intron|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	222	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCCTCTGAGCCCAACTTGAAG	0.398000														8			5		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27726415	27726415	+	Nonsense_Mutation	SNP	C	T	T	rs149847328		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:27726415C>T	uc002rky.3	+	8	745	c.679C>T	c.(679-681)Cga>Tga	p.R227*	GCKR_uc010ezd.3_Nonsense_Mutation_p.R227*|GCKR_uc010ylu.2_Nonsense_Mutation_p.R37*	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	227	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTCAACATTCCGACAAGTAGC	0.493000														43			9		0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	617686	617686	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:617686C>T	uc001lql.3	-	14	2470	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N	IRF7_uc009ycb.3_5'Flank|IRF7_uc010qwf.2_5'Flank|IRF7_uc001lqf.3_5'Flank|IRF7_uc010qwg.2_5'Flank|IRF7_uc001lqg.3_5'Flank|IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.D735N|CDHR5_uc009ycd.3_Missense_Mutation_p.D729N|CDHR5_uc001lqk.3_Missense_Mutation_p.D541N|CDHR5_uc009ycc.3_Missense_Mutation_p.D569N	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	735					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGCTTGGGGTCGTGCGTGGGG	0.756000														2			4		0	0	1	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36764178	36764178	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:36764178C>T	uc010tei.2	-	10	1092	c.777G>A	c.(775-777)agG>agA	p.R259R	CCDC169-SOHLH2_uc001uvj.3_Silent_p.R182R	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	259					regulation of transcription, DNA-dependent	nucleus											CATTGCCATTCCTTAAAGATT	0.348000														23			16		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1217003	1217003	+	Silent	SNP	C	T	T	rs149388719		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:1217003C>T	uc003jbw.4	+	7	1172	c.1116C>T	c.(1114-1116)ccC>ccT	p.P372P		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	372					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.P372P(2)		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)			CCTCCGACCCCGCGGCCTACG	0.622000														179			43		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39716400	39716400	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:39716400C>T	uc001wux.3	+	3	816	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	MIA2_uc010amy.2_Missense_Mutation_p.R139C	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	208						extracellular region		p.R208C(4)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GGAACAGGATCGTATTCCAGA	0.443000														39			16		0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238727187	238727187	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:238727187G>A	uc002vxi.4	+	2	1760	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	542							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AAAGGATCAGGAAAATCTCTC	0.308000														9			5		0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33469570	33469571	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:33469570_33469571GG>AA	uc003zsz.3	-	4	754_755	c.653_654CC>TT	c.(652-654)ccc>cTT	p.P218L	NOL6_uc003zta.3_Missense_Mutation_p.P218L|NOL6_uc010mjv.3_Missense_Mutation_p.P218L|NOL6_uc011lob.2_Missense_Mutation_p.P158L|NOL6_uc003ztb.1_Missense_Mutation_p.P218L	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	218					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TGCCAAAGAGGGGGTCCTGGGC	0.609000														80			18		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33526684	33526684	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:33526684G>A	uc021vft.1	+	21	3477	c.3454G>A	c.(3454-3456)Gca>Aca	p.A1152T	LTBP1_uc002rou.3_Missense_Mutation_p.A826T|LTBP1_uc002rov.3_Missense_Mutation_p.A773T|LTBP1_uc010ymz.2_Missense_Mutation_p.A826T|LTBP1_uc010yna.2_Missense_Mutation_p.A773T|LTBP1_uc010ynb.2_Missense_Mutation_p.A92T	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1152	EGF-like 10; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGGTTACAGAGCATCTGGGCT	0.488000														29			14		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562619	179562619	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:179562619G>A	uc010pnp.2	+	2	775	c.257G>A	c.(256-258)gGa>gAa	p.G86E	TDRD5_uc021pfm.1_Missense_Mutation_p.G86E|TDRD5_uc001gnf.2_Missense_Mutation_p.G86E|TDRD5_uc021pfn.1_Missense_Mutation_p.G86E	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	86	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TCTACCAAAGGAATAGCAAGC	0.388000														35			6		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909235	123909235	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:123909235C>G	uc001pzq.1	-	0	474	c.474G>C	c.(472-474)caG>caC	p.Q158H		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCAATATGGTCTGGACAGCAG	0.572000														209			5		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381921	108381921	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:108381921G>A	uc001pkk.3	-	5	4424	c.4313C>T	c.(4312-4314)tCc>tTc	p.S1438F	EXPH5_uc010rvz.2_Missense_Mutation_p.S1282F|EXPH5_uc010rvy.2_Missense_Mutation_p.S1250F	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1438					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCTAGTTTGGGAATTTCCAAT	0.413000														34			6		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84055943	84055943	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:84055943C>T	uc003pjy.3	-	4	814	c.549G>A	c.(547-549)atG>atA	p.M183I	ME1_uc011dzb.2_Missense_Mutation_p.M108I|ME1_uc011dzc.2_Missense_Mutation_p.M17I	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	183					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CTTGAGGATTCATCCCTCCGC	0.443000														59			8		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34094912	34094912	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:34094912C>T	uc011kap.2	+	9	1298	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	308	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACAAGATTTTCCAGGTATGTC	0.468000														59			10		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409879	19409879	+	RNA	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:19409879C>T	uc010tcj.1	-	0		c.36231G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TGACTTTTTTCTGAGAGTATC	0.338000														39			10		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6265625	6265625	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:6265625C>T	uc001mco.3	+	5	1829	c.1714C>T	c.(1714-1716)Cca>Tca	p.P572S	CNGA4_uc010raa.2_3'UTR|CNGA4_uc001mcn.3_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	572					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGGACCCCCAGGTCCAGA	0.587000														9			4		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380724	56380724	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:56380724G>A	uc001nja.1	-	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F85F(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GTTCTGAGAGGAAATTGTGCA	0.448000														59			12		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36489156	36489156	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:36489156C>T	uc002hpz.3	-	9	2036	c.2015G>A	c.(2014-2016)aGc>aAc	p.S672N		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	672						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGGGTCCAGGCTGTGCTCACT	0.612000														38			3		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431584	117431584	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:117431584G>A	uc003vjf.3	-	3	1758	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	556	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGTGGAGAAGGAGTTTGGGAG	0.507000														152			5		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10392117	10392117	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:10392117C>T	uc003bvt.3	-	14	2720	c.2281G>A	c.(2281-2283)Gag>Aag	p.E761K	ATP2B2_uc003bvv.3_Missense_Mutation_p.E716K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E716K|ATP2B2_uc010hdo.3_Missense_Mutation_p.E466K	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	761					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGTTGAACTCCTTGCCCTCG	0.597000														57			5		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449759	61449759	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:61449759C>T	uc002ljl.3	+	1	249	c.153C>T	c.(151-153)ctC>ctT	p.L51L	SERPINB7_uc002ljm.3_Silent_p.L51L|SERPINB7_uc010xet.2_Silent_p.L51L|SERPINB7_uc010dqg.3_Silent_p.L51L	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	51					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				ATGACTCCCTCTCTCAGATTG	0.473000														49			12		0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59404997	59404997	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:59404997C>G	uc003xtm.4	-	4	1193	c.1130G>C	c.(1129-1131)gGt>gCt	p.G377A		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	377					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTTGTAGGAACCGTCCTCAAG	0.453000									Neonatal Giant Cell Hepatitis					49			25		0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98628987	98628987	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:98628987C>T	uc001vne.3	+	3	271	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	IPO5_uc001vnf.1_Silent_p.L13L|IPO5_uc010tik.1_Silent_p.L13L|IPO5_uc010til.1_5'Flank	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	13	Importin N-terminal.				NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ACAGTTCTACCTGCTCCTGGG	0.697000														10			4		0	0	1	0	0
TRH	7200	broad.mit.edu	37	3	129694683	129694683	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:129694683C>T	uc003enc.3	+	1	585	c.24C>T	c.(22-24)ctC>ctT	p.L8L		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	8			L -> V (in dbSNP:rs5658).		cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						GGTTGCTGCTCGCTCTGGCTT	0.701000														14			6		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276366	186276366	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:186276366G>A	uc001gru.4	+	6	1566	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.E464E|PRG4_uc009wyl.3_Silent_p.E412E|PRG4_uc009wym.3_Silent_p.E371E|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	505	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTCCCAAGGAGCCTGCACCCA	0.647000														227			5		0	0	1	0	0
RGPD5	84220	broad.mit.edu	37	2	113147112	113147112	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:113147112G>A	uc002ths.2	-	19	3602	c.3410C>T	c.(3409-3411)tCt>tTt	p.S1137F	RGPD5_uc010fkk.2_Missense_Mutation_p.S997F|RGPD5_uc002tht.1_Missense_Mutation_p.S388F	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1137	RanBD1 1.				intracellular transport	cytoplasm	binding			central_nervous_system(1)	1						ATCACCATCAGAGAAATCACT	0.453000														268			37		0	0	1	0	0
GZMH	2999	broad.mit.edu	37	14	25076889	25076889	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:25076889G>A	uc001wpr.1	-	2	313	c.268C>T	c.(268-270)Cct>Tct	p.P90S	GZMH_uc010aly.1_Missense_Mutation_p.P90S|GZMH_uc010alz.1_Intron	NM_033423	NP_219491	P20718	GRAH_HUMAN	Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA.	90	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	p.P90H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CTTTTCACAGGGATAAACTGC	0.532000														95			18		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671958	44671958	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:44671958C>T	uc010zxl.1	+	8	1378	c.1302C>T	c.(1300-1302)gtC>gtT	p.V434V	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.V411V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	434					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCCCTCAGTCACAGGTGAAG	0.527000														123			83		0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88416962	88416962	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:88416962C>T	uc010qmk.1	+	2	528	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	OPN4_uc001kdp.3_Missense_Mutation_p.R101C|OPN4_uc001kdq.3_Intron	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	97					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						agctgtgcttcgtggagtcac	0.547000														40			8		0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134280237	134280237	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:134280237C>T	uc003eqo.1	+	15	2421	c.1972C>T	c.(1972-1974)Ccc>Tcc	p.P658S	CEP63_uc003eql.1_Missense_Mutation_p.P450S|CEP63_uc003eqm.3_Intron|CEP63_uc003eqn.1_Missense_Mutation_p.P496S	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	658					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCCTGTATCTCCCCTTGGTTC	0.373000														55			21		0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139262604	139262604	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:139262604C>T	uc003qii.3	-	7	1582	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	REPS1_uc003qig.4_Missense_Mutation_p.D335N|REPS1_uc011edr.2_Missense_Mutation_p.D335N|REPS1_uc003qij.3_Missense_Mutation_p.D335N|REPS1_uc003qik.3_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	335	EF-hand.|EH 2.					coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AATGCACCATCTTTATCAAAG	0.358000														77			17		0	0	1	0	0
IP6K2	51447	broad.mit.edu	37	3	48726058	48726058	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:48726058T>C	uc003cuq.3	-	5	1390	c.929A>G	c.(928-930)aAg>aGg	p.K310R	NCKIPSD_uc003cun.3_5'Flank|NCKIPSD_uc003cum.3_5'Flank|NCKIPSD_uc010hkh.2_5'Flank|IP6K2_uc003cup.3_Missense_Mutation_p.K310R	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	310					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CTCAGTCAGCTTCTTGAGCAC	0.577000														34			21		0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108475939	108475939	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:108475939C>T	uc003dxh.2	-	0	192	c.94G>A	c.(94-96)Gat>Aat	p.D32N		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	32					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						ATCTTCTTATCCATAACGGAG	0.512000														20			9		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179296772	179296772	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:179296772G>A	uc003mlh.3	-	16	2823	c.2788C>T	c.(2788-2790)Cca>Tca	p.P930S	TBC1D9B_uc003mli.3_Missense_Mutation_p.P930S|TBC1D9B_uc003mlj.3_Missense_Mutation_p.P930S|TBC1D9B_uc003mlf.3_5'Flank|TBC1D9B_uc003mlg.3_Missense_Mutation_p.P106S|TBC1D9B_uc011dgv.2_Missense_Mutation_p.P106S|TBC1D9B_uc011dgw.1_Missense_Mutation_p.P106S|TBC1D9B_uc003mlk.1_Missense_Mutation_p.P88S	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	930						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTCACCTGGGGGAAGGTGT	0.622000														20			4		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6999988	6999988	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:6999988G>A	uc002knm.3	-	30	4485	c.4391C>T	c.(4390-4392)cCc>cTc	p.P1464L	LAMA1_uc010wzj.2_Missense_Mutation_p.P940L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1464	Laminin EGF-like 16.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACACAAGTGGGACTAAAACT	0.403000														25			11		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233477	168233477	+	Silent	SNP	G	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:168233477G>T	uc010jjg.3	-	8	1329	c.909C>A	c.(907-909)gcC>gcA	p.A303A	SLIT3_uc003mab.3_Silent_p.A303A|SLIT3_uc010jji.2_Silent_p.A303A|SLIT3_uc003mac.1_Silent_p.A100A	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	303	LRRNT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGGCAAGTTGGCAGGAATCT	0.577000														126			10		0.000442599	0.000445155	1	1	0
ALKBH8	91801	broad.mit.edu	37	11	107422633	107422633	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:107422633G>A	uc010rvr.2	-	5	676	c.601C>T	c.(601-603)Cct>Tct	p.P201S	ALKBH8_uc001pjk.3_5'UTR|ALKBH8_uc010rvq.2_Missense_Mutation_p.P64S|ALKBH8_uc009yxp.3_Missense_Mutation_p.P201S|ALKBH8_uc001pjl.3_Non-coding_Transcript	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	Homo sapiens alkB, alkylation repair homolog 8 (E. coli) (ALKBH8), mRNA.	201					response to DNA damage stimulus	cytosol|nucleus	RNA binding|metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|tRNA (uracil) methyltransferase activity	p.L200V(1)		breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		CAAATGTCAGGAAGACCTACA	0.318000														3			8		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31045476	31045476	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:31045476G>A	uc002yno.1	-	3	1017	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	GRIK1_uc002ynn.3_Missense_Mutation_p.R185C|GRIK1_uc011acs.2_Missense_Mutation_p.R185C|GRIK1_uc011act.2_Missense_Mutation_p.R129C|GRIK1_uc010glq.1_Missense_Mutation_p.R43C|GRIK1_uc002ynr.3_Missense_Mutation_p.R185C	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	185					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCTTGTAGACGAATTAGACCT	0.393000														26			9		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770472	112770472	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:112770472G>A	uc003kqm.2	-	0	257	c.65C>T	c.(64-66)tCc>tTc	p.S22F	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	22	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TTTTGCATAGGAGCCCTCTCC	0.537000														24			9		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383770	85383770	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:85383770G>A	uc002ble.3	+	4	2033	c.1866G>A	c.(1864-1866)ctG>ctA	p.L622L		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	622					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)			ACATGTACCTGGAGAACACCC	0.647000														40			21		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42224816	42224816	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:42224816G>A	uc003ose.2	-	10	2984	c.2421C>T	c.(2419-2421)ttC>ttT	p.F807F	TRERF1_uc011duq.1_Silent_p.F704F|TRERF1_uc003osb.2_Silent_p.F543F|TRERF1_uc003osc.2_Silent_p.F543F|TRERF1_uc003osd.2_Silent_p.F787F	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	787	ELM2.|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)			TTTCTGCTTGGAATCTCAAGC	0.473000														58			28		0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30739328	30739328	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:30739328C>T	uc001ivi.2	+	4	1258	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	MAP3K8_uc009xlf.2_Silent_p.L216L|MAP3K8_uc001ivj.2_Silent_p.L216L	NM_005204	NP_005195	P41279	M3K8_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 8 (MAP3K8), transcript variant 1, mRNA.	216	Protein kinase.				T cell costimulation|cell cycle	cytosol	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AGGGTCTGTTCTGGAGAAACT	0.483000														34			11		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121930123	121930123	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:121930123C>T	uc004bkc.2	-	7	1981	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	509					cell cycle arrest|cell death	cytoplasm	protein binding	p.E509D(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGGCGGATCTCGTTGCTGATG	0.552000														29			20		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39358849	39358849	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:39358849G>A	uc001uwv.3	+	5	6232	c.5923G>A	c.(5923-5925)Gaa>Aaa	p.E1975K	FREM2_uc001uww.3_Missense_Mutation_p.E61K	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1975	Calx-beta 2.				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)		CGAGGAGGAGGAAACCTTCCA	0.498000														44			14		0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148854073	148854073	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:148854073C>T	uc003qme.1	+	13	2180	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	SASH1_uc011eeb.1_Missense_Mutation_p.P330S|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	569	SH3.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CACCCCCAGTCCCTATGACAC	0.582000														131			23		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37291415	37291415	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:37291415C>T	uc001caz.2	-	10	1678	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	GRIK3_uc001cba.1_Missense_Mutation_p.A515T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	515					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.A515D(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGGGCCACGGCCAGATCTGCC	0.527000														31			23		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142099611	142099611	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:142099611A>C	uc003vyz.1	-	1	191	c.191T>G	c.(190-192)tTt>tGt	p.F64C	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.F64C					SubName: Full=Uncharacterized protein;																		ATAAGTCAGAAACTCTGGCCC	0.517000														54			56		0	0	1	0	0
SETD7	80854	broad.mit.edu	37	4	140468193	140468193	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:140468193G>C	uc003ihw.3	-	1	337	c.51C>G	c.(49-51)gaC>gaG	p.D17E	SETD7_uc003ihx.3_Missense_Mutation_p.D17E	NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 7 (SETD7), mRNA.	17					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					ATCCGTCATCGTCCAGGTGCC	0.527000														45			18		0	0	1	0	0
CYBA	1535	broad.mit.edu	37	16	88717414	88717414	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:88717414T>C	uc002flb.3	-	0	44	c.8A>G	c.(7-9)cAg>cGg	p.Q3R	CYBA_uc002fld.1_Missense_Mutation_p.Q3R|CYBA_uc010chx.1_Missense_Mutation_p.Q3R|CYBA_uc002fle.1_Missense_Mutation_p.Q3R	NM_000101	NP_000092	P13498	CY24A_HUMAN	Homo sapiens cytochrome b-245, alpha polypeptide (CYBA), mRNA.	3					cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	SH3 domain binding|electron carrier activity|heme binding|protein heterodimerization activity	p.Q3*(1)		endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCACTCGATCTGCCCCATGGC	0.736000														8			3		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394323	233394323	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:233394323G>A	uc001hvl.2	-	4	1520	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	429						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGATTACAGGAATTGAGATC	0.577000														84			44		0	0	1	0	0
LOC646813	646813	broad.mit.edu	37	11	50375243	50375243	+	RNA	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:50375243C>T	uc001nhe.2	+	2		c.134C>T			LOC646813_uc001nhf.1_Intron|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_5'Flank					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		AGACTGACTTCCTTTTGATAG	0.318000														13			7		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807842	8807842	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:8807842C>T	uc002mkl.2	-	0	1331	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	404						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTGTTCCTCGTACTGCTCC	0.637000														47			32		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56581523	56581523	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:56581523G>A	uc002iwj.2	-	13	1654	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	515	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.P515T(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGCTCACAGGGGTTGTTGGC	0.547000														68			50		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160789119	160789119	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:160789119C>T	uc001fwu.3	+	6	1503	c.1453C>T	c.(1453-1455)Cca>Tca	p.P485S	LY9_uc001fwv.3_Missense_Mutation_p.P485S|LY9_uc001fww.3_Missense_Mutation_p.P395S|LY9_uc001fwy.1_Missense_Mutation_p.P297S|LY9_uc001fwz.3_Missense_Mutation_p.P137S	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	485					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGTTCAGTCCCAGCCTTCTG	0.488000														73			13		0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49116588	49116589	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:49116588_49116589GG>AA	uc002pjn.2	-	0	106_107	c.41_42CC>TT	c.(40-42)tcc>tTT	p.S14F		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	14										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCTGGGACCGGAGTCCACTCC	0.698000														10			8		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39225968	39225968	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:39225968G>A	uc003cjk.2	-	1	5198	c.4969C>T	c.(4969-4971)Cct>Tct	p.P1657S	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.P340S|XIRP1_uc021wvz.1_Missense_Mutation_p.P1657S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1657							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAAACCCGAGGAGGGCACAAA	0.532000														37			21		0	0	1	0	0
GALK2	2585	broad.mit.edu	37	15	49584706	49584706	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:49584706C>T	uc001zxj.1	+	7	1037	c.939C>T	c.(937-939)acC>acT	p.T313T	GALK2_uc001zxi.1_Silent_p.T302T|GALK2_uc010ufb.1_Silent_p.T289T|GALK2_uc001zxk.2_Non-coding_Transcript|GALK2_uc010ufc.1_Silent_p.T289T	NM_002044	NP_002035	Q01415	GALK2_HUMAN	Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA.	313					galactose metabolic process	cytoplasm	ATP binding|N-acetylgalactosamine kinase activity|galactokinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		AACTCCGAACCCAAATCCTGA	0.458000														29			12		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104641567	104641567	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:104641567C>T	uc001yos.4	+	11	2442	c.2442C>T	c.(2440-2442)ttC>ttT	p.F814F		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	814					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGCCTGACTTCGTGCCCATCA	0.692000														18			7		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42237219	42237219	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:42237219C>T	uc003ose.2	-	4	673	c.110G>A	c.(109-111)gGg>gAg	p.G37E	TRERF1_uc011duq.1_Missense_Mutation_p.G37E|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.G37E	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	37					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)			AACTGCATTCCCATAGTTGTG	0.572000														61			27		0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51009660	51009660	+	Missense_Mutation	SNP	C	T	T	rs141885850		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:51009660C>T	uc003bmm.3	-	14	1901	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	CPT1B_uc003bmk.4_Missense_Mutation_p.R601Q|CPT1B_uc003bml.3_Missense_Mutation_p.R601Q|CPT1B_uc003bmo.3_Missense_Mutation_p.R601Q|CPT1B_uc011asa.2_Missense_Mutation_p.R567Q|CPT1B_uc003bmn.3_Missense_Mutation_p.R601Q|CPT1B_uc011asb.2_Missense_Mutation_p.R520Q|CPT1B_uc003bmp.3_Missense_Mutation_p.R396Q|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	601					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AGTCTCAGTCCGTCCCTCCCG	0.577000														73			24		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47680210	47680210	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:47680210C>T	uc003oyz.1	+	5	589	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	GPR115_uc003oza.1_Missense_Mutation_p.P140S|GPR115_uc003ozb.1_Missense_Mutation_p.P140S|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	140					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TAAGAACTGCCCCTTTGATTA	0.398000														93			13		0	0	1	0	0
IFNW1	3467	broad.mit.edu	37	9	21141427	21141427	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:21141427G>A	uc003zol.1	-	0	718	c.143C>T	c.(142-144)tCc>tTc	p.S48F		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	48					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAGAAAGGGGAGATTCTCCT	0.517000														92			58		0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995398	2995398	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:2995398C>T	uc010vrb.2	-	0	893	c.893G>A	c.(892-894)gGg>gAg	p.G298E		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	298					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TCCCAGAGCCCCATGCATGTC	0.468000														65			20		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160843705	160843705	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:160843705C>T	uc002ube.2	-	11	2211	c.1999G>A	c.(1999-2001)Gac>Aac	p.D667N	PLA2R1_uc010zcp.2_Missense_Mutation_p.D667N|PLA2R1_uc002ubf.3_Missense_Mutation_p.D667N	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	667					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						GACTCCCAGTCCAAATAGCAG	0.458000														30			23		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70925841	70925841	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:70925841G>A	uc001swb.4	-	29	5854	c.5824C>T	c.(5824-5826)Cac>Tac	p.H1942Y	BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Missense_Mutation_p.H1852Y|PTPRB_uc010stp.2_Missense_Mutation_p.H1852Y|PTPRB_uc001swc.4_Missense_Mutation_p.H2160Y|PTPRB_uc001swa.4_Missense_Mutation_p.H2072Y	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1942	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAACCCTGTGAAGTCTTAGG	0.478000														36			6		0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14852256	14852256	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:14852256A>G	uc001mln.3	+	7	2173	c.1820A>G	c.(1819-1821)aAc>aGc	p.N607S	PDE3B_uc010rcr.2_Missense_Mutation_p.N556S	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	607					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAAGAAGAAAACATTTTCTCG	0.284000														17			14		0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305209	121305209	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:121305209C>T	uc003eef.3	+	4	805	c.710C>T	c.(709-711)cCt>cTt	p.P237L		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	237						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L236I(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TACAATCTTCCTGATGAGAAT	0.463000														71			28		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763878	82763878	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:82763878C>T	uc003uhx.2	-	2	3277	c.2988G>A	c.(2986-2988)gtG>gtA	p.V996V	PCLO_uc003uhv.2_Silent_p.V996V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	942					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.V996V(6)|p.V942V(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCTTTTTCACAGGTATAC	0.468000														38			8		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319635	31319635	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:31319635C>T	uc010dmg.1	+	10	2322	c.2267C>T	c.(2266-2268)tCc>tTc	p.S756F	ASXL3_uc002kxq.2_Missense_Mutation_p.S463F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	756	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTCCAATTTCCAACTCTTCC	0.443000														98			52		0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95517909	95517909	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:95517909C>T	uc001kjc.4	+	0	344	c.8C>T	c.(7-9)tCa>tTa	p.S3L	LGI1_uc021pwk.1_Missense_Mutation_p.S3L|LGI1_uc010qnv.2_Missense_Mutation_p.S3L|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	3					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TGCATGGAATCAGAAAGAAGC	0.443000														15			10		0	0	1	0	0
AK309896	0	broad.mit.edu	37	9	66513833	66513833	+	RNA	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:66513833G>A	uc010mnh.1	-	5		c.915C>T								Homo sapiens cDNA FLJ20444 fis, clone KAT05128.																		TCTTCTACATGATCAACGCAG	0.488000														59			7		0	0	1	0	0
C6orf70	55780	broad.mit.edu	37	6	170160048	170160048	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:170160048C>T	uc003qxg.1	+	6	753	c.720C>T	c.(718-720)ctC>ctT	p.L240L	C6orf70_uc011ehb.1_Silent_p.L114L|C6orf70_uc003qxh.1_Silent_p.L240L|C6orf70_uc010kky.1_Silent_p.L114L	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	240						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		TTACAAACCTCGAGGATTTGA	0.378000														46			13		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40354296	40354296	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:40354296C>T	uc002omp.4	-	34	16181	c.16173G>A	c.(16171-16173)gcG>gcA	p.A5391A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5391	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATTTCTCCATCGCTGGCTTCT	0.542000														36			8		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32812098	32812098	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:32812098C>T	uc001utx.3	+	43	6889	c.6393C>T	c.(6391-6393)tcC>tcT	p.S2131S	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCAAAATATCCATGGTGGATG	0.498000														70			50		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390130	197390130	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:197390130G>A	uc001gtz.3	+	6	1381	c.1172_splice	c.e6-1	p.G391_splice	CRB1_uc010poz.2_Splice_Site_p.G322_splice|CRB1_uc009wza.3_Splice_Site_p.G279_splice|CRB1_uc010ppa.2_Splice_Site|CRB1_uc010ppb.2_Splice_Site_p.G391_splice|CRB1_uc010ppc.1_Splice_Site|CRB1_uc010ppd.2_Splice_Site|CRB1_uc001gub.1_Splice_Site_p.G40_splice	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	391	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TATTTAACAGGAATCCACTGC	0.348000														34			15		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35724284	35724284	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:35724284C>T	uc003zxt.2	-	5	913	c.559G>A	c.(559-561)Gag>Aag	p.E187K	TLN1_uc003zxu.4_Missense_Mutation_p.E187K	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	187	FERM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTCTCGTGCTCCTCTACACCC	0.577000														48			18		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107580750	107580750	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:107580750C>T	uc003vev.2	-	22	3678	c.3517G>A	c.(3517-3519)Ggc>Agc	p.G1173S	LAMB1_uc003vew.2_Missense_Mutation_p.G1149S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1149	Laminin EGF-like 13.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACACTGGCCCGTGGACTGG	0.572000														40			48		0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150781	247150781	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:247150781G>A	uc009xgu.3	-	3	1221	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	346					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCTCCAGTATGAATTCTTCTA	0.383000														6			9		0	0	1	0	0
ZCCHC3	85364	broad.mit.edu	37	20	278715	278715	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:278715A>G	uc002wdf.3	+	0	512	c.488A>G	c.(487-489)aAg>aGg	p.K163R		NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	Homo sapiens zinc finger, CCHC domain containing 3 (ZCCHC3), mRNA.	163							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			ggcccgggcAAGGGTCGCTTC	0.751000														2			3		0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130941272	130941272	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:130941272G>A	uc011mas.2	-	7	1469	c.1304C>T	c.(1303-1305)cCa>cTa	p.P435L	CIZ1_uc004btr.3_Missense_Mutation_p.P405L|CIZ1_uc004bts.3_Missense_Mutation_p.P376L|CIZ1_uc011maq.2_Intron|CIZ1_uc004btu.3_Intron|CIZ1_uc004btt.3_Missense_Mutation_p.P405L|CIZ1_uc011mar.2_Missense_Mutation_p.P304L|CIZ1_uc004btw.3_Intron|CIZ1_uc004btv.3_Missense_Mutation_p.P405L|CIZ1_uc004btx.2_Missense_Mutation_p.P381L	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	405	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						ctgcacctgtggctgcacctg	0.622000														44			15		0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36297373	36297373	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:36297373C>T	uc002obx.1	-	7	1206	c.1188G>A	c.(1186-1188)atG>atA	p.M396I		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	396					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGGTCTTCCATCCCATGGA	0.607000														67			25		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38117330	38117330	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:38117330G>A	uc003gtb.3	+	16	2916	c.2558_splice	c.e16-1	p.G853_splice	TBC1D1_uc011byd.2_Splice_Site_p.G947_splice|TBC1D1_uc010ifd.3_Splice_Site_p.G640_splice|TBC1D1_uc021xnh.1_Splice_Site|TBC1D1_uc021xni.1_Splice_Site	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	853	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCTTTTCACAGGGCGAACCTT	0.388000														25			10		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745178	50745178	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:50745178C>T	uc002egm.1	+	3	1461	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	NOD2_uc021tia.1_Silent_p.I284I|NOD2_uc010cbk.1_Silent_p.I425I|NOD2_uc002egl.1_Silent_p.I230I|NOD2_uc010cbl.1_Silent_p.I230I|NOD2_uc010cbm.1_Silent_p.I230I|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	452	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AACAGGGCATCGAGCTGTACC	0.642000														67			25		0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242285635	242285635	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:242285635C>T	uc002wbh.3	+	13	1389	c.927C>T	c.(925-927)ttC>ttT	p.F309F	SEPT2_uc002wbc.3_Silent_p.F299F|SEPT2_uc002wbd.3_Silent_p.F299F|SEPT2_uc002wbf.3_Silent_p.F299F|SEPT2_uc002wbg.3_Silent_p.F299F|SEPT2_uc010zop.2_Silent_p.F334F	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA.	299					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		ATGAAAACTTCCGTTCTGAGA	0.507000														30			10		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324950	31324950	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:31324950C>T	uc010dmg.1	+	11	5193	c.5138C>T	c.(5137-5139)tCa>tTa	p.S1713L	ASXL3_uc002kxq.2_Missense_Mutation_p.S1420L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1713					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCTTCCACCTCAAGTCCCATG	0.557000														51			26		0	0	1	0	0
C15orf23	90417	broad.mit.edu	37	15	40675132	40675132	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:40675132G>A	uc001zll.3	+	0	211	c.96G>A	c.(94-96)cgG>cgA	p.R32R	C15orf23_uc001zlo.3_Silent_p.R32R|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Silent_p.R32R	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	32						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CTAGCTACCGGAAGTTTCTAT	0.577000														20			39		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334142	108334142	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:108334142G>A	uc003ymn.3	-	3	1258	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F	ANGPT1_uc011lhv.2_Missense_Mutation_p.L64F|ANGPT1_uc003ymo.3_Missense_Mutation_p.L264F|ANGPT1_uc003ymp.4_Missense_Mutation_p.L64F	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	264					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTAGTGCAAAGATTGACAAGG	0.393000														51			9		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381226	147381226	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:147381226G>A	uc021ovm.1	+	0	1144	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	GJA8_uc001epu.2_Missense_Mutation_p.E382K	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	382					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TAAGGAGGGTGAAAAAGAAGA	0.572000														21			6		0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123513174	123513174	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:123513174G>A	uc001pza.1	-	3	832	c.425C>T	c.(424-426)cCc>cTc	p.P142L	SCN3B_uc001pzb.1_Missense_Mutation_p.P142L	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	142	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GACTCTTAGGGGGATCAGCCG	0.587000														38			19		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21098308	21098308	+	Silent	SNP	C	T	T	rs73542653	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:21098308C>T	uc010vbe.2	-	18	2739	c.2739G>A	c.(2737-2739)ctG>ctA	p.L913L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	913	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)		AGGTCTTGATCAGTTTATACG	0.453000														76			41		0	0	1	0	0
LOC283547	283547	broad.mit.edu	37	14	39304943	39304943	+	RNA	SNP	G	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:39304943G>T	uc010amw.2	-	0		c.3466C>A			LOC283547_uc021rsj.1_Non-coding_Transcript|LOC283547_uc001wun.3_Non-coding_Transcript|LOC283547_uc001wuo.3_Non-coding_Transcript					Homo sapiens uncharacterized LOC283547 (LOC283547), non-coding RNA.																		TCAAGTGTTAGCAGTGAGGGA	0.527000														13			3		0.115264	0.115396	1	1	0
OR10R2	343406	broad.mit.edu	37	1	158450255	158450255	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:158450255T>A	uc010pik.2	+	0	588	c.588T>A	c.(586-588)caT>caA	p.H196Q	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AAGTCAATCATTACTTCTGTG	0.418000														164			6		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10541402	10541402	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:10541402G>A	uc002gmq.2	-	26	3775	c.3687C>T	c.(3685-3687)atC>atT	p.I1229I		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1229					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGAGGTCATCGATCTCCAGCT	0.567000														85			22		0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39623734	39623734	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:39623734C>T	uc002lap.3	+	19	2199	c.2141C>T	c.(2140-2142)cCa>cTa	p.P714L	PIK3C3_uc010xcl.2_Missense_Mutation_p.P651L|PIK3C3_uc002laq.3_Missense_Mutation_p.P199L|PIK3C3_uc002lar.1_Missense_Mutation_p.P98L	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	714	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GAGAATGGGCCAAATGGGATT	0.348000										TSP Lung(28;0.18)				49			16		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070489	114070489	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:114070489C>G	uc003ebi.3	-	3	616	c.436G>C	c.(436-438)Gtg>Ctg	p.V146L	ZBTB20_uc003ebj.3_Missense_Mutation_p.V73L|ZBTB20_uc010hqp.3_Missense_Mutation_p.V73L|ZBTB20_uc003ebk.3_Missense_Mutation_p.V73L|ZBTB20_uc003ebl.3_Missense_Mutation_p.V73L|ZBTB20_uc003ebm.3_Missense_Mutation_p.V73L|ZBTB20_uc003ebn.3_Missense_Mutation_p.V73L|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	146	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGCACTGACACCACCGACGGG	0.612000														39			6		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33962640	33962640	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:33962640G>A	uc001zhi.3	+	37	5813	c.5743G>A	c.(5743-5745)Gaa>Aaa	p.E1915K	RYR3_uc010bar.3_Missense_Mutation_p.E1915K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1915	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ggaagaagaggaagaggagga	0.483000														27			8		0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:15323276A>T	uc002ktd.1	-	2		c.183T>A								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		ATCAACTGCAATTGCATTTGC	0.308000														9			6		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600589	29600589	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:29600589C>T	uc001usl.4	+	0	1842	c.1784C>T	c.(1783-1785)cCc>cTc	p.P595L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	585						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACACGTCCCCCAAAGTGCCT	0.537000														33			28		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53012211	53012211	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:53012211C>T	uc001sas.3	-	0	133	c.98G>A	c.(97-99)cGa>cAa	p.R33Q		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	33	Gly-rich.|Head.					keratin filament	structural molecule activity	p.R33*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCCCTGCTCGGTAGGAGGA	0.637000														97			21		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104083682	104083682	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:104083682C>T	uc001tjw.3	+	28	3290	c.3104C>T	c.(3103-3105)tCc>tTc	p.S1035F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1035	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTCGTGCCTTCCCAACAAGCT	0.438000														67			10		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837781	93837781	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:93837781G>A	uc001pep.2	+	15	2927	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	924	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CGTTGATTATGAATTTGCTCT	0.363000														31			18		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160668235	160668235	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:160668235G>T	uc003qtf.3	-	4	1112	c.938C>A	c.(937-939)tCt>tAt	p.S313Y		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	313					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	p.S313P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GGCGGGTAGAGATTTTCCATT	0.483000														24			12		0.00185496	0.00186137	1	1	0
MGAM	8972	broad.mit.edu	37	7	141736050	141736051	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:141736050_141736051CC>TT	uc003vwy.3	+	16	2095_2096	c.2041_2042CC>TT	c.(2041-2043)ccg>TTg	p.P681L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	681	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCATTTTATCCGTTTTCTAGA	0.475000														13			3		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844654	147844654	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:147844654C>T	uc003weu.2	+	16	3142	c.2626C>T	c.(2626-2628)Cct>Tct	p.P876S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	876	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTCACCAACCCCTCTCAACGA	0.552000										HNSCC(39;0.1)				73			87		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242511409	242511409	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:242511409G>A	uc001hzn.2	-	3	553	c.326_splice	c.e3+1	p.R109_splice	PLD5_uc021pll.1_Silent_p.V14V|PLD5_uc001hzl.4_Splice_Site_p.R47_splice|PLD5_uc001hzm.4_5'UTR|PLD5_uc001hzo.2_Silent_p.V14V	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	109						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ACCTCTTACCGACATTTATTT	0.433000														62			10		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196741396	196741396	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:196741396C>T	uc002utj.4	-	36	6090	c.5989G>A	c.(5989-5991)Gaa>Aaa	p.E1997K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1997	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTAGATTTCCTTATTTAGT	0.303000														28			8		0	0	1	0	0
NXPH3	11248	broad.mit.edu	37	17	47656328	47656328	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:47656328G>A	uc002ipa.3	+	1	709	c.425G>A	c.(424-426)gGa>gAa	p.G142E		NM_007225	NP_009156	O95157	NXPH3_HUMAN	Homo sapiens neurexophilin 3 (NXPH3), mRNA.	142	III.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					ACAGGCCAGGGAAACATCTCC	0.542000														49			10		0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149829872	149829872	+	Silent	SNP	A	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:149829872A>G	uc010zbu.2	+	11	1535	c.1140A>G	c.(1138-1140)gaA>gaG	p.E380E	KIF5C_uc002tws.1_Non-coding_Transcript	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	380	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGAGGATGAACAGATCAGTG	0.463000														20			15		0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66989016	66989016	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:66989016G>A	uc003xvs.1	+	3	532	c.241G>A	c.(241-243)Gac>Aac	p.D81N	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	81	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGCATATACGACAAGTACGG	0.468000														114			42		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:31323920C>T	uc010dmg.1	+	11	4163	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S	ASXL3_uc002kxq.2_Missense_Mutation_p.P1077S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		101			44		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	136031416	136031416	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:136031416G>A	uc011mcw.2	-	3	492	c.211C>T	c.(211-213)Cca>Tca	p.P71S	RALGDS_uc010nab.3_Silent_p.L58L|RALGDS_uc011mcx.2_Intron|RALGDS_uc004ccw.3_Silent_p.L58L|RALGDS_uc010nac.1_5'UTR|RALGDS_uc004ccy.1_Silent_p.L58L	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 2, mRNA.	0					Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCACGGGCTGGAGTGGCTTCT	0.552000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									35			14		0	0	1	0	0
FAM75D3	389762	broad.mit.edu	37	9	84562780	84562780	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:84562780G>A	uc010mpt.2	+	3	2698	c.2612G>A	c.(2611-2613)cGa>cAa	p.R871Q	AK097447_uc004ami.1_Intron|DQ577940_uc004amm.1_5'Flank	NM_207416	NP_997299	P0C874	YI039_HUMAN	Homo sapiens family with sequence similarity 75, member D3 (FAM75D3), mRNA.	871						integral to membrane											ATTAAACATCGAAATTTGGCA	0.458000														12			3		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383122	22383122	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:22383122C>T	uc001yuc.1	+	6	1631	c.650C>T	c.(649-651)tCc>tTc	p.S217F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.S217F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTCTGGCTTCCTATGCAGTC	0.502000														107			25		0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	100996217	100996217	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:100996217G>A	uc002bwa.3	-	12	1484	c.913C>T	c.(913-915)Cac>Tac	p.H305Y	CERS3_uc002bvz.3_Missense_Mutation_p.H294Y|CERS3_uc002bwb.3_Missense_Mutation_p.H294Y	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	294	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GGCTCGAGGTGATACATAGGC	0.378000														19			16		0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71646647	71646647	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:71646647C>T	uc003xyq.3	+	4	1644	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	XKR9_uc010lzd.3_Silent_p.F238F|XKR9_uc010lze.3_Silent_p.F370F	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	370						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGAGATATTTCCTAATGGAAT	0.294000														23			13		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141016188	141016188	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:141016188C>T	uc004cog.3	+	45	6896	c.6751C>T	c.(6751-6753)Cga>Tga	p.R2251*	CACNA1B_uc022bqn.1_Silent_p.L2188L|CACNA1B_uc004coi.3_Nonsense_Mutation_p.R1465*	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2253					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCTGGCTCTCGAATTGGCTC	0.662000														38			15		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107712861	107712861	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:107712861C>T	uc001tmk.1	+	0	665	c.144C>T	c.(142-144)ggC>ggT	p.G48G	BTBD11_uc009zut.1_Silent_p.G48G|BTBD11_uc001tmj.3_Silent_p.G48G	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	48						integral to membrane	DNA binding			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						CCCCGTATGGCGGGAGCTGCT	0.632000														6			4		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711644	155711644	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:155711644C>T	uc002tyv.1	+	2	1520	c.1325C>T	c.(1324-1326)tCa>tTa	p.S442L	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	442					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CGAATAAGTTCAGTTCCGGGC	0.428000														70			14		0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50813882	50813882	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:50813882C>T	uc021tib.1	+	6	1568	c.1445C>T	c.(1444-1446)cCt>cTt	p.P482L	CYLD_uc002ego.3_Missense_Mutation_p.P479L|CYLD_uc010cbs.1_Missense_Mutation_p.P479L|CYLD_uc002egp.1_Missense_Mutation_p.P479L|CYLD_uc002egq.1_Missense_Mutation_p.P479L|CYLD_uc002egr.1_Missense_Mutation_p.P479L|CYLD_uc002egs.1_Missense_Mutation_p.P479L	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	482	Interaction with IKBKG/NEMO.|Interaction with TRIP.				Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGGAGAACCCTCCTTTCTAT	0.502000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					25			11		0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101232520	101232520	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:101232520C>T	uc003yjh.2	+	12	1635	c.1549C>T	c.(1549-1551)Cat>Tat	p.H517Y	SPAG1_uc003yji.2_Missense_Mutation_p.H517Y	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	517					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TCTGGAACTTCATCCATTCTC	0.378000														54			29		0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136709565	136709565	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:136709565G>A	uc011edg.2	-	4	807	c.558C>T	c.(556-558)ggC>ggT	p.G186G	MAP7_uc011edf.2_Silent_p.G149G|MAP7_uc010kgu.3_Silent_p.G186G|MAP7_uc011edh.2_Silent_p.G186G|MAP7_uc010kgv.3_Silent_p.G186G|MAP7_uc010kgs.3_Silent_p.G18G|MAP7_uc011edi.2_Silent_p.G18G|MAP7_uc010kgq.2_Intron|MAP7_uc003qgz.3_Silent_p.G164G|MAP7_uc003qha.2_Silent_p.G164G|MAP7_uc010kgr.2_Silent_p.G18G|MAP7_uc010kgt.2_Silent_p.G186G	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	164					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CATGGAGAGAGCCTCCCCACG	0.473000														131			65		0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350637	51350637	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:51350637G>A	uc001zyy.3	-	2	420	c.320C>T	c.(319-321)cCt>cTt	p.P107L		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	107										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AAAAACATCAGGACCTATGGt	0.338000														14			9		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19574185	19574185	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:19574185G>A	uc001vuz.1	+	9	1295	c.1243_splice	c.e9-1	p.V415_splice	POTEG_uc001vva.1_Splice_Site|POTEG_uc010ahc.1_Splice_Site	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	415										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTTCATTCAAGGTTGAAGAAG	0.333000														63			14		0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23396824	23396824	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:23396824C>T	uc001whm.1	-	3	452	c.361G>A	c.(361-363)Gct>Act	p.A121T	PRMT5_uc001whl.1_Missense_Mutation_p.A104T|PRMT5_uc010tnf.1_Missense_Mutation_p.A15T|PRMT5_uc010tnh.1_Splice_Site_p.A77_splice|PRMT5_uc010tng.1_Splice_Site_p.A60_splice|PRMT5_uc001whn.1_Intron|TRNA_uc021rqs.1_5'Flank|TRNA_uc021rqt.1_5'Flank	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	121					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AGCAGGAAAGCTGGAAGACCC	0.458000														34			9		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84560104	84560104	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:84560104C>T	uc002bjz.4	+	11	1459	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P412L	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	412						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGATAATGCCCTATGACCAC	0.313000														49			20		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108477266	108477266	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:108477266G>A	uc010ywk.2	+	12	1885	c.1803G>A	c.(1801-1803)ggG>ggA	p.G601G	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	601					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AATACATAGGGAGAAGTGTTC	0.318000														70			34		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76446342	76446342	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:76446342G>A	uc010dhp.2	-	67	11159	c.11034C>T	c.(11032-11034)tcC>tcT	p.S3678S	DNAH17_uc002jvq.3_5'Flank|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCACCTTGAGGGAGAACTGGT	0.612000														29			6		0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100996221	100996221	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:100996221C>T	uc010avx.3	+	6	1571	c.1478C>T	c.(1477-1479)gCc>gTc	p.A493V	WDR25_uc001yhn.3_Missense_Mutation_p.A493V|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Missense_Mutation_p.A236V	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	493										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				ACGGGCAGCGCCGATGGCCGG	0.662000														38			27		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25004789	25004789	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:25004789C>T	uc001mqs.3	+	8	989	c.715C>T	c.(715-717)Cca>Tca	p.P239S	LUZP2_uc009yif.3_Missense_Mutation_p.P153S|LUZP2_uc009yig.3_Missense_Mutation_p.P197S	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	239						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GATGTTACTCCCACCCAGGAA	0.448000														74			21		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791169	51791169	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:51791169G>A	uc010ufy.2	-	17	4477	c.4252C>T	c.(4252-4254)Cga>Tga	p.R1418*	DMXL2_uc002abf.3_Nonsense_Mutation_p.R1418*|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1418						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.R1418R(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTATAATCTCGAGTACCATCT	0.408000														167			14		0	0	1	0	0
PPP1CC	5501	broad.mit.edu	37	12	111160329	111160329	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:111160329A>G	uc001tru.3	-	4	966	c.695T>C	c.(694-696)gTt>gCt	p.V232A	PPP1CC_uc021rdx.1_Missense_Mutation_p.V232A	NM_002710	NP_002701	P36873	PP1G_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, gamma isozyme (PPP1CC), transcript variant 1, mRNA.	232					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|nuclear speck|nucleolus	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						AAATTTTGCAACCACTTCTGC	0.408000														65			14		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104124864	104124864	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:104124864T>C	uc010mtd.3	-	3	1212	c.1103A>G	c.(1102-1104)tAt>tGt	p.Y368C	BAAT_uc004bbd.4_Missense_Mutation_p.Y368C	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	368					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity	p.P367S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CAGAGGAGAATAGGGAGGTTC	0.552000														24			21		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1443231	1443231	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:1443231C>A	uc003jck.3	-	1	208	c.82G>T	c.(82-84)Gag>Tag	p.E28*		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	28					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCTCCACCTCCTTCGGGCCC	0.632000														41			15		2.32078e-09	2.36145e-09	1	1	0
ALDH8A1	64577	broad.mit.edu	37	6	135265085	135265085	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:135265085G>A	uc003qew.3	-	1	227	c.158C>T	c.(157-159)gCc>gTc	p.A53V	ALDH8A1_uc011ecx.2_Missense_Mutation_p.A53V|ALDH8A1_uc003qex.3_Missense_Mutation_p.A53V|ALDH8A1_uc010kgh.3_5'UTR	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA.	53					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TTCTCTGGCGGCCTTGACCGC	0.587000														21			15		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288700	125288700	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:125288700C>T	uc004bmn.1	-	0	873	c.873G>A	c.(871-873)agG>agA	p.R291R		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTCCTTGTTCCTTAGGCTAT	0.463000														23			5		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	60034	60034	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:60034G>A	uc003fzv.1	+	2	370	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	ZNF718_uc003fzt.4_Missense_Mutation_p.A72T|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_Intron|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A72T(1)					all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TGAGACAGCAGCCAAACCCCC	0.473000														113			10		0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153184327	153184327	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:153184327G>A	uc004fjk.2	-	6	1049	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	ARHGAP4_uc011mzf.2_Missense_Mutation_p.P308S|ARHGAP4_uc004fjl.2_Missense_Mutation_p.P371S|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	331					Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCAGCGGGGGACAGAAGACG	0.617000														32			64		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933204	43933204	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:43933204C>T	uc002xnn.2	-	2	494	c.307G>A	c.(307-309)Gac>Aac	p.D103N	MATN4_uc002xnp.2_Missense_Mutation_p.D103N|MATN4_uc002xno.2_Missense_Mutation_p.D103N|MATN4_uc010zwr.1_Missense_Mutation_p.D51N|MATN4_uc002xnr.1_Missense_Mutation_p.D103N|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	103	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GGCACCAGGTCGCGGATGGCG	0.662000														29			11		0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401099	11401099	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:11401099G>A	uc003gmq.3	-	1	854	c.531C>T	c.(529-531)ttC>ttT	p.F177F	HS3ST1_uc021xmg.1_Silent_p.F177F	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	177						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CGCGCACCAGGAACTCCTCGA	0.592000														36			6		0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551373	100551373	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:100551373C>T	uc001tgs.3	-	3	667	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	GOLGA2P5_uc001tgt.3_Non-coding_Transcript|GOLGA2P5_uc021rcm.1_Non-coding_Transcript|DQ579681_uc001tgx.3_5'Flank					Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA.																		ACCCCCAGTTCTTGGGGCTGG	0.642000														45			20		0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094843	139094843	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:139094843G>A	uc003qie.3	+	0	187	c.32G>A	c.(31-33)gGg>gAg	p.G11E	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	11										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GCGACACTGGGGGAGCAGGAA	0.602000														133			49		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103207112	103207112	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:103207112G>A	uc022ajr.1	-	31	4843	c.4683C>T	c.(4681-4683)tcC>tcT	p.S1561S	RELN_uc022ajq.1_Silent_p.S1561S|RELN_uc010liz.3_Silent_p.S1561S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1561					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.I1560L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCAGGTCAATGGAAATGATCT	0.478000														46			47		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534686	55534686	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:55534686C>A	uc003xsd.1	+	2	773	c.625C>A	c.(625-627)Ctc>Atc	p.L209I	RP1_uc011ldy.1_Missense_Mutation_p.L209I	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	209	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.L209R(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTTCCCAGCCTCCAGGCAGT	0.433000														24			3		0.150653	0.150653	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26239861	26239861	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:26239861G>A	uc003abz.1	+	18	3618	c.3368_splice	c.e18+1	p.R1123_splice	MYO18B_uc003aca.1_Splice_Site_p.R1004_splice|MYO18B_uc010guy.1_Splice_Site_p.R1005_splice|MYO18B_uc010guz.1_Splice_Site_p.R1004_splice|MYO18B_uc011aka.1_Splice_Site_p.R277_splice|MYO18B_uc011akb.1_Splice_Site_p.R636_splice	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1123	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						CAGTCAAAAAGGTGAGTTGGG	0.602000														26			23		0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1545587	1545587	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:1545587C>T	uc002cly.3	+	2	867	c.576C>T	c.(574-576)gtC>gtT	p.V192V	TELO2_uc010uvg.1_Silent_p.V192V	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	192						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCGAGGAGGTCGTCCGGGTGC	0.667000														52			45		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197397107	197397107	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:197397107C>T	uc001gtz.3	+	6	2861	c.2652C>T	c.(2650-2652)ggC>ggT	p.G884G	CRB1_uc010poz.2_Silent_p.G815G|CRB1_uc009wza.3_Silent_p.G772G|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.G365G|CRB1_uc001gub.1_Silent_p.G533G	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	884	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAACCCAAGGCTGTGCTGGAG	0.333000														27			12		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542517	28542517	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:28542517C>T	uc003nlo.3	-	2	2583	c.1965G>A	c.(1963-1965)agG>agA	p.R655R		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	655					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CATCATGTTTCCTCTTCATTG	0.438000														67			54		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71653716	71653716	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:71653716C>T	uc002shx.3	+	23	5040	c.4717C>T	c.(4717-4719)Cct>Tct	p.P1573S	ZNF638_uc002shz.3_Missense_Mutation_p.P1573S|ZNF638_uc002shy.3_Missense_Mutation_p.P1573S|ZNF638_uc002sia.3_Missense_Mutation_p.P1573S|ZNF638_uc002sib.1_3'UTR|ZNF638_uc002sic.3_Missense_Mutation_p.P670S|ZNF638_uc002sid.3_5'UTR	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1573					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAAAAATGTTCCTTTCTCTGA	0.393000														27			16		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997435	19997435	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:19997435C>T	uc002ktv.1	-	0	444	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	114						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CAGAGTATTTCATGCACAAGT	0.378000														87			47		0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49226329	49226329	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:49226329G>A	uc001rsm.3	-	13	1922	c.1831C>T	c.(1831-1833)Cca>Tca	p.P611S		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	611	Helicase ATP-binding.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCCACCGCTGGGGGCATGGTG	0.582000														34			8		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42273300	42273300	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:42273300G>A	uc001uyj.3	-	28	3541	c.3471C>T	c.(3469-3471)ttC>ttT	p.F1157F		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1157						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CTGTTCTTGGGAAGATATCAA	0.458000														81			12		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128452053	128452053	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:128452053C>T	uc003vnv.2	+	12	2644	c.2228C>T	c.(2227-2229)tCc>tTc	p.S743F	CCDC136_uc003vnu.2_Intron|CCDC136_uc003vnx.2_Missense_Mutation_p.S559F|CCDC136_uc010llq.2_Missense_Mutation_p.S112F|CCDC136_uc003vny.2_Missense_Mutation_p.S353F	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	743						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGCCTTGAGTCCTACGGGAAG	0.493000														103			38		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43808936	43808936	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:43808936G>A	uc002rsw.4	-	7	1017	c.665C>T	c.(664-666)cCc>cTc	p.P222L	THADA_uc002rsx.4_Missense_Mutation_p.P222L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.P222L|THADA_uc002rtc.4_Missense_Mutation_p.P222L|THADA_uc002rtd.3_Missense_Mutation_p.P222L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	222							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTGCCATATGGGAGAATCGGA	0.338000														46			24		0	0	1	0	0
SAAL1	113174	broad.mit.edu	37	11	18118329	18118329	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:18118329G>A	uc001mnq.3	-	2	372	c.322C>T	c.(322-324)Cct>Tct	p.P108S	SAAL1_uc001mnr.3_Missense_Mutation_p.P108S	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA.	108					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						CTTAATCGAGGACACTTGGAC	0.343000														15			7		0	0	1	0	0
OR2A1	346528	broad.mit.edu	37	7	144015523	144015523	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:144015523C>T	uc011kud.2	+	0	306	c.306C>T	c.(304-306)ctC>ctT	p.L102L	OR2A9P_uc003wec.1_Intron	NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					AGACCTTTCTCTGTTTGAGTT	0.562000														307			15		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62728911	62728911	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:62728911C>T	uc001dah.4	-	6	2769	c.2392G>A	c.(2392-2394)Gtg>Atg	p.V798M	KANK4_uc001dai.4_Missense_Mutation_p.V170M|KANK4_uc001daf.4_5'UTR|KANK4_uc001dag.4_Missense_Mutation_p.V154M	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	798								p.V797M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TAGGAGGCCACCACGGCGGGG	0.562000														34			8		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133759902	133759903	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:133759902_133759903CC>TT	uc004bzw.3	+	10	2228_2229	c.2225_2226CC>TT	c.(2224-2226)tcc>tTT	p.S742F	ABL1_uc004bzv.3_Missense_Mutation_p.S761F	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	742					DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GACTTGCAGTCCACGGGAAGAC	0.614000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									29			10		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55222181	55222181	+	RNA	SNP	C	T	T	rs115666951	by1000genomes	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:55222181C>T	uc002qgs.1	+	0		c.2581C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CCCTGGAGCTCGTGGTCTCAG	0.627000														46			26		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101590171	101590171	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:101590171C>T	uc001kqf.2	+	19	2867	c.2728C>T	c.(2728-2730)Cgt>Tgt	p.R910C		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	910						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAACAGCTTTCGTCGAACACT	0.478000														63			24		0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102568940	102568940	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:102568940A>G	uc001krk.4	+	7	1485	c.935A>G	c.(934-936)aAc>aGc	p.N312S	PAX2_uc001krm.4_Missense_Mutation_p.N312S|PAX2_uc001krn.4_Missense_Mutation_p.N289S|PAX2_uc001kro.4_Missense_Mutation_p.N289S|PAX2_uc010qps.2_Missense_Mutation_p.N288S|PAX2_uc001krl.4_Missense_Mutation_p.N289S|PAX2_uc001krp.1_Missense_Mutation_p.N285S	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	312					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	p.A311A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GCATCCACCAACCCTGAGCTG	0.587000														42			28		0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463561	241463561	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:241463561G>A	uc010fzd.1	-	7	1698	c.1573C>T	c.(1573-1575)Ccg>Tcg	p.P525S	ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.P295S|ANKMY1_uc002vyz.1_Missense_Mutation_p.P436S|ANKMY1_uc002vza.1_Missense_Mutation_p.P295S|ANKMY1_uc002vzd.1_Missense_Mutation_p.P295S|ANKMY1_uc010fze.2_Missense_Mutation_p.P105S|ANKMY1_uc002vze.3_Missense_Mutation_p.P197S	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	436							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TTCACCAACGGGGAGTCCCCC	0.627000														47			18		0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71646537	71646537	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:71646537C>T	uc003xyq.3	+	4	1534	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	XKR9_uc010lzd.3_Missense_Mutation_p.L202F|XKR9_uc010lze.3_Missense_Mutation_p.L334F	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	334						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TCTTGGAATTCTTTTTCTTAT	0.323000														13			5		0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507231	64507231	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:64507231G>A	uc009ypu.3	-	6	800	c.573C>T	c.(571-573)ccC>ccT	p.P191P	RASGRP2_uc001oat.3_Silent_p.P93P|RASGRP2_uc001oau.3_Silent_p.P46P|RASGRP2_uc009ypv.3_Silent_p.P191P|RASGRP2_uc009ypw.3_Silent_p.P191P	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	191	Ras-GEF.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTCCAGGACGGGGTTGTCCA	0.597000														42			29		0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698197	195698197	+	RNA	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:195698197C>T	uc003fvx.3	-	10		c.1676G>A			SDHAP1_uc011btp.1_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		CTCTTACCTTCTGCATGCTGA	0.473000														18			4		0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171733	4171733	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:4171733C>T	uc002lzl.3	+	9	1269	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	CREB3L3_uc002lzm.3_Nonsense_Mutation_p.R375*|CREB3L3_uc010xib.2_Nonsense_Mutation_p.R374*|CREB3L3_uc010xic.2_3'UTR	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	385					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGACCCCGACCCGAGGC	0.642000														178			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764026	82764026	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:82764026G>A	uc003uhx.2	-	2	3129	c.2840C>T	c.(2839-2841)tCc>tTc	p.S947F	PCLO_uc003uhv.2_Missense_Mutation_p.S947F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	893	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCTGCAGTGGAAATTAAATT	0.532000														27			3		0	0	1	0	0
MTX2	10651	broad.mit.edu	37	2	177195314	177195314	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:177195314C>T	uc002ukx.3	+	8	781	c.546C>T	c.(544-546)gtC>gtT	p.V182V	MTX2_uc002ukw.3_Silent_p.V172V	NM_006554	NP_006545	O75431	MTX2_HUMAN	Homo sapiens metaxin 2 (MTX2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	182					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGTGTTAGGTCTTAGAGGATG	0.328000														194			75		0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244662343	244662343	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:244662343C>T	uc001iam.3	+	6	450	c.391C>T	c.(391-393)Cct>Tct	p.P131S	C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.3_Missense_Mutation_p.P131S|C1orf101_uc010pym.2_Intron|C1orf101_uc010pyn.2_Intron	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	131						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAGTGCAGATCCTGATGAGTT	0.363000														37			12		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398403	10398403	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:10398403C>T	uc002gmo.3	-	36	5405	c.5311G>A	c.(5311-5313)Gag>Aag	p.E1771K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1771						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCAGCTCCTCAGCCATCATG	0.493000														89			58		0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17271887	17271887	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:17271887G>A	uc001iou.2	+	1	879	c.466G>A	c.(466-468)Gag>Aag	p.E156K	BC078172_uc001iot.1_Non-coding_Transcript	NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	156	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGATGCGGGAGCTGCGCCG	0.642000														14			3		0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76280818	76280818	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:76280818C>T	uc001dhd.2	+	4	927	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	271					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GAGGTTCAGTCCAAGTAAGtt	0.313000								Mismatch excision repair (MMR)						35			23		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53089622	53089622	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:53089622C>T	uc001saw.3	-	3	878	c.849G>A	c.(847-849)gtG>gtA	p.V283V	KRT77_uc009zmi.3_Silent_p.V41V	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	283	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACTCCAGGTCCACTTTGCTCA	0.468000														32			10		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142120318	142120318	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:142120318C>T	uc022anf.1	-	0	33	c.4G>A	c.(4-6)Ggt>Agt	p.G2S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Missense_Mutation_p.G2S					SubName: Full=V_segment translation product; Flags: Fragment;																		AGACTGGTACCCATGACAGTG	0.512000														133			47		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21178651	21178651	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:21178651G>C	uc002zsz.4	-	3	506	c.245C>G	c.(244-246)tCt>tGt	p.S82C	PI4KA_uc010gsq.2_Missense_Mutation_p.S168C	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	82					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGCCACATCAGACAGCAGAGT	0.443000														123			4		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177073070	177073070	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:177073070A>T	uc003iuj.3	+	17	2787	c.2484A>T	c.(2482-2484)agA>agT	p.R828S	WDR17_uc003ium.4_Missense_Mutation_p.R804S|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.R47S	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	828										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCCACTTGAGATTAGGACAAA	0.373000														33			26		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61542785	61542785	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:61542785G>A	uc002ydr.2	-	2	492	c.180C>T	c.(178-180)tcC>tcT	p.S60S	DIDO1_uc002yds.2_Silent_p.S60S|DIDO1_uc002ydt.2_Silent_p.S60S|DIDO1_uc002ydu.2_Silent_p.S60S|DIDO1_uc002ydv.2_Silent_p.S60S|DIDO1_uc002ydw.2_Silent_p.S60S|DIDO1_uc002ydx.2_Silent_p.S60S|DIDO1_uc011aao.1_Silent_p.S60S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	60					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCGCCGCAGGGACAGGCCCA	0.701000														13			9		0	0	1	0	0
PLAC1L	219990	broad.mit.edu	37	11	59812156	59812156	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:59812156G>A	uc001nol.3	+	2	441	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	86						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AGTTTCTGAGGAAACTCTCCT	0.403000														28			16		0	0	1	0	0
PSMD9	5715	broad.mit.edu	37	12	122340959	122340959	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:122340959C>T	uc001ubl.3	+	3	618	c.501C>T	c.(499-501)acC>acT	p.T167T	PSMD9_uc009zxj.3_Non-coding_Transcript	NM_002813	NP_002804	O00233	PSMD9_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 (PSMD9), mRNA.	167	PDZ.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CTGTGAACACCCAGAACTTCC	0.517000														30			15		0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91146847	91146847	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:91146847G>A	uc001xyp.3	-	7	1105	c.983C>T	c.(982-984)gCc>gTc	p.A328V	TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	328							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TAACAACAGGGCTTCTTCCGT	0.368000														17			12		0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707272	96707272	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:96707272G>A	uc010avm.1	+	2	803	c.607G>A	c.(607-609)Gat>Aat	p.D203N	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.D176N|BDKRB2_uc001yfg.2_Missense_Mutation_p.D203N	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	203					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GGAGTACAGCGATGAGGGCCA	0.592000														50			12		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221954	55221954	+	RNA	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:55221954G>A	uc002qgs.1	+	0		c.2354G>A			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		AGGAGAGAACGTGACCCTGCT	0.632000														49			12		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57649922	57649922	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:57649922C>T	uc002qnz.1	-	2	446	c.60G>A	c.(58-60)ggG>ggA	p.G20G		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTGCCACTCCCCCTGGGTGA	0.517000														63			15		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21973894	21973894	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:21973894G>A	uc003xas.3	-	17	4091	c.3426C>T	c.(3424-3426)tcC>tcT	p.S1142S	HR_uc003xat.3_Silent_p.S1087S	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	1142	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGTCTCAGGGGAGAGGAAGT	0.622000														13			10		0	0	1	0	0
GXYLT1	283464	broad.mit.edu	37	12	42491381	42491381	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:42491381G>A	uc001rms.4	-	6	1249	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	GXYLT1_uc001rmt.4_Nonsense_Mutation_p.R311*	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	342					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	p.R342L(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TGATCTGGTCGATAATTCCAT	0.368000														69			13		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42446602	42446602	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:42446602C>T	uc003gwr.2	-	31	3240	c.3008G>A	c.(3007-3009)tGg>tAg	p.W1003*	ATP8A1_uc003gwq.2_Nonsense_Mutation_p.W229*|ATP8A1_uc003gws.2_Nonsense_Mutation_p.W988*	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1003					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.W1003*(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TACCCATGTCCAATATGATGT	0.358000														12			6		0	0	1	0	0
RCL1	10171	broad.mit.edu	37	9	4834165	4834165	+	Missense_Mutation	SNP	G	A	A	rs148074533	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:4834165G>A	uc003zis.2	+	4	742	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_005772	NP_005763	Q9Y2P8	RCL1_HUMAN	Homo sapiens RNA terminal phosphate cyclase-like 1 (RCL1), mRNA.	162					RNA processing|ribosome biogenesis	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		AATGCCTCCCGGAGGAGGAGG	0.512000														31			6		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28662223	28662223	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:28662223C>T	uc002kwl.4	-	8	1698	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	DSC2_uc002kwk.4_Missense_Mutation_p.G415E	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	415	Cadherin 3.				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)			ACAAAGAACTCCTTCATTGGT	0.294000														34			9		0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802773	124802773	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:124802773G>A	uc003ehw.4	-	13	2263	c.2193C>T	c.(2191-2193)tcC>tcT	p.S731S	SLC12A8_uc003ehv.4_Silent_p.S702S|SLC12A8_uc003eht.4_Silent_p.S503S|SLC12A8_uc010hry.3_3'UTR	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	702					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TCACGAGGGAGGAGTGGTGGT	0.572000														18			6		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643314	156643314	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:156643314G>A	uc003iov.3	+	9	2377	c.1841G>A	c.(1840-1842)cGa>cAa	p.R614Q	GUCY1A3_uc010iqc.2_Missense_Mutation_p.R614Q|GUCY1A3_uc010iqd.3_Missense_Mutation_p.R613Q|GUCY1A3_uc003iow.3_Missense_Mutation_p.R614Q|GUCY1A3_uc003iox.3_Missense_Mutation_p.R614Q|GUCY1A3_uc010iqe.3_Missense_Mutation_p.R379Q|GUCY1A3_uc003ioy.3_Missense_Mutation_p.R614Q|GUCY1A3_uc003ioz.3_Missense_Mutation_p.R379Q|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.R614Q	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	614					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGTGTACCACGAAAAATCAAT	0.378000														69			18		0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40853555	40853555	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:40853555C>T	uc002law.3	-	1	1208	c.839G>A	c.(838-840)aGa>aAa	p.R280K	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.R262K	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	280	Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CCTAACATTTCTCTTGATGAT	0.289000														13			6		0	0	1	0	0
CFL1	1072	broad.mit.edu	37	11	65623154	65623154	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:65623154G>A	uc001ofs.3	-	2	890	c.359C>T	c.(358-360)tCc>tTc	p.S120F	CFL1_uc001oft.3_Missense_Mutation_p.S120F	NM_005507	NP_005498	P23528	COF1_HUMAN	Homo sapiens cofilin 1 (non-muscle) (CFL1), mRNA.	120	ADF-H.				Rho protein signal transduction|actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		GGCGTCCTTGGAGCTGGCATA	0.582000														11			9		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128495294	128495294	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:128495294C>T	uc003vnz.4	+	42	7386	c.7177C>T	c.(7177-7179)Cca>Tca	p.P2393S	FLNC_uc003voa.4_Missense_Mutation_p.P2360S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2393					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGAGCACATCCCAGACAGCCC	0.617000														93			82		0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99697345	99697345	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:99697345A>G	uc003usw.1	-	2	653	c.143T>C	c.(142-144)cTg>cCg	p.L48P	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.	48					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)	GTCCACATACAGAGCCACCTG	0.537000														102			34		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891500	18891500	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:18891500C>T	uc001rdy.3	+	0	456	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	100					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GCTTCAAAATCAGCTGAAAGA	0.398000														36			21		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420926	11420926	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:11420926C>T	uc001qzs.3	-	2	295	c.257G>A	c.(256-258)gGa>gAa	p.G86E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	86	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACTGGTTTCCTCCTTGTGG	0.627000														298			143		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901443	160901443	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:160901443G>A	uc002ube.2	-	1	547	c.335C>T	c.(334-336)tCc>tTc	p.S112F	PLA2R1_uc010zcp.2_Missense_Mutation_p.S112F|PLA2R1_uc002ubf.3_Missense_Mutation_p.S112F	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	112	Ricin B-type lectin.				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						CCACCGTAAGGAAACGAGGGT	0.532000														57			7		0	0	1	0	0
RBM15B	29890	broad.mit.edu	37	3	51431476	51431476	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:51431476G>A	uc003dbd.3	+	0	2778	c.2646G>A	c.(2644-2646)gtG>gtA	p.V882V		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	882	Interaction with Epstein-Barr virus BMLF1.|SPOC.				RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AACACATGGTGATAGTCATCG	0.498000														59			11		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28966657	28966657	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:28966657G>A	uc002kwr.2	+	2	226	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	DSG4_uc002kwq.2_Missense_Mutation_p.E31K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	31					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAAGGTGAAGGAATTTGACAT	0.383000														61			7		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27668295	27668295	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:27668295G>A	uc002rku.3	-	45	4987	c.4936C>T	c.(4936-4938)Cga>Tga	p.R1646*	KRTCAP3_uc021vfd.1_Intron|IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1646					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACCCAGTCTCGAACCTCTTCT	0.617000														16			3		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84290301	84290301	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:84290301C>T	uc021zcf.1	-	22	2197	c.2167G>A	c.(2167-2169)Gat>Aat	p.D723N	SNAP91_uc011dzd.2_Missense_Mutation_p.D221N|SNAP91_uc003pka.3_Missense_Mutation_p.D721N|SNAP91_uc011dze.2_Missense_Mutation_p.D721N|SNAP91_uc003pkc.3_Missense_Mutation_p.D693N|SNAP91_uc003pkd.3_Missense_Mutation_p.D416N|SNAP91_uc003pkb.3_Missense_Mutation_p.D632N	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	723					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATCAAAAGATCACCTAGACCA	0.428000														32			17		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439539	150439540	+	Silent	DNP	CC	TT	TT			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:150439539_150439540CC>TT	uc022apw.1	+	5	1064_1065	c.924_925CC>TT	c.(922-927)tacctg>taTTtg	p.308_309YL>YL	GIMAP1-GIMAP5_uc003whr.2_Silent_p.104_105YL>YL	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GGGACTGCTACCTGCTCTCTGC	0.579000														70			58		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20792848	20792848	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:20792848G>A	uc001reh.2	+	9	2248	c.2208G>A	c.(2206-2208)atG>atA	p.M736I	PDE3A_uc021qwa.1_Missense_Mutation_p.M414I	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	736	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGGAATTTATGAATTATTTTC	0.313000														18			10		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133661546	133661546	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:133661546G>A	uc003eqa.4	-	10	1802	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	SLCO2A1_uc011blv.2_Missense_Mutation_p.P329S	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	510					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TGGGCACAGGGGACAGGGCAC	0.562000														46			26		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113599321	113599321	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:113599321G>A	uc003ynu.3	-	22	4018	c.3859C>T	c.(3859-3861)Cat>Tat	p.H1287Y	CSMD3_uc003yns.3_Missense_Mutation_p.H559Y|CSMD3_uc003ynt.3_Missense_Mutation_p.H1247Y|CSMD3_uc011lhx.2_Missense_Mutation_p.H1183Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1287	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGCTAAATGAAATGTTCTG	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				39			19		0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122643372	122643372	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:122643372C>T	uc021pzt.1	+	13	2066	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	WDR11_uc010qte.2_Missense_Mutation_p.S209F|WDR11_uc001lfd.1_Missense_Mutation_p.S125F	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	607						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AGAGAGATGTCCAAAAACTTC	0.338000														22			4		0	0	1	0	0
MNX1	3110	broad.mit.edu	37	7	156802446	156802446	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:156802446G>A	uc003wnd.1	-	0	902	c.599C>T	c.(598-600)cCc>cTc	p.P200L	MNX1_uc003wmz.3_5'Flank|MNX1_uc003wna.3_Missense_Mutation_p.P200L|MNX1_uc003wnc.1_5'Flank|MNX1_uc022aqk.1_5'Flank|MNX1_uc010lqr.1_5'Flank|LOC645249_uc003wne.2_5'Flank	NM_005515	NP_005506	P50219	MNX1_HUMAN	Homo sapiens motor neuron and pancreas homeobox 1 (MNX1), transcript variant 1, mRNA.	200					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCTTGATGGGGTCGGCGGG	0.726000														17			21		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994858	143994858	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:143994858G>A	uc003yxk.1	-	5	967	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	322					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.P322T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ATCAGCAAGGGAAACGCTGTC	0.632000									Familial Hyperaldosteronism type I					97			19		0	0	1	0	0
PANK2	80025	broad.mit.edu	37	20	3891386	3891386	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:3891386C>T	uc002wkc.3	+	2	1150	c.1144C>T	c.(1144-1146)Ccg>Tcg	p.P382S	PANK2_uc002wkb.3_Missense_Mutation_p.P91S|PANK2_uc010gbd.1_Non-coding_Transcript|PANK2_uc002wkd.3_Non-coding_Transcript|PANK2_uc002wke.3_Missense_Mutation_p.P91S|PANK2_uc002wkf.3_5'UTR	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	Homo sapiens pantothenate kinase 2 (PANK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	382					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	p.P382L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTTGAAAAATCCGTATCCTCT	0.408000														45			28		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37157832	37157832	+	Silent	SNP	A	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:37157832A>G	uc011cpa.1	-	39	8128	c.7897T>C	c.(7897-7899)Tta>Cta	p.L2633L	C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Silent_p.L1151L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.L1726L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2633										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATATAATGTAACTCTGCAGAC	0.338000														35			5		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686190	100686190	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:100686190G>A	uc003uxp.1	+	2	11546	c.11493G>A	c.(11491-11493)gaG>gaA	p.E3831E	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3831	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCCTTCTGAGGCCAGCACAC	0.483000														58			19		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2594141	2594141	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:2594141G>A	uc001lwn.3	+	5	954	c.846G>A	c.(844-846)ctG>ctA	p.L282L	KCNQ1_uc009ydp.1_Silent_p.L66L|KCNQ1_uc001lwo.3_Silent_p.L155L	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	282					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTGTGTACCTGGCTGAGAAGG	0.587000														24			18		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38768436	38768436	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:38768436C>T	uc003ciq.3	-	15	2748	c.2748G>A	c.(2746-2748)cgG>cgA	p.R916R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	916			R -> W (found in a renal cell carcinoma sample; somatic mutation).		sensory perception	voltage-gated sodium channel complex		p.R916W(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGACCTGGATCCGTGCCAGGG	0.587000														89			51		0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140386854	140386855	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:140386854_140386855AC>TT	uc003vvy.1	+	4	1548_1549	c.1370_1371AC>TT	c.(1369-1371)aac>aTT	p.N457I	ADCK2_uc003vvz.3_Missense_Mutation_p.N457I	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	457	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CAGGGTGCCAACGGCCTGTCCT	0.579000														42			39		0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21698135	21698135	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:21698135C>T	uc002kuw.3	+	7	1577	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	TTC39C_uc002kuu.3_Silent_p.S314S	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	375							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CATTTGATTCCTTTGAGAGGC	0.458000														57			16		0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948536	2948537	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:2948536_2948537GG>AA	uc003muk.3	-	5	3121_3122	c.1126_1127CC>TT	c.(1126-1128)ccg>TTg	p.P376L	SERPINB6_uc003mui.3_Missense_Mutation_p.P259L|SERPINB6_uc003muj.3_Non-coding_Transcript|SERPINB6_uc003mul.3_Missense_Mutation_p.P376L|SERPINB6_uc003mum.3_Missense_Mutation_p.P376L|SERPINB6_uc003mun.3_Missense_Mutation_p.P376L|SERPINB6_uc003muo.3_Missense_Mutation_p.P376L	NM_004568	NP_004559	P35237	SPB6_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6), transcript variant 1, mRNA.	376					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CTGTCCTCACGGAGAGGAAAAG	0.599000														48			35		0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107169997	107169997	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:107169997C>T	uc004enl.3	+	9	2475	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	MID2_uc004enk.3_Silent_p.F604F	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	634	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ATAGTAACTTCGTGGTGAGAC	0.473000														35			18		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955867	51955867	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:51955867C>T	uc002pwt.3	-	6	1333	c.1266G>A	c.(1264-1266)tgG>tgA	p.W422*	SIGLEC8_uc010yda.2_Nonsense_Mutation_p.W313*|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.W329*	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	422					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.W422C(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGCCATCTTTCCAGGATTCAG	0.587000														31			14		0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715388	165715388	+	Silent	SNP	A	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:165715388A>G	uc003qum.4	-	1	459	c.423T>C	c.(421-423)acT>acC	p.T141T	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	141										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTCCTCTGAAGTGTGGGAAA	0.632000														65			42		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140201380	140201380	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:140201380G>A	uc003lhl.2	+	0	20	c.20G>A	c.(19-21)gGa>gAa	p.G7E	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_uc003lhk.1_Missense_Mutation_p.G7E|PCDHAC2_uc003lhj.1_Missense_Mutation_p.G7E	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	0					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)			TCCCGGAGAGGAAGTCTGGGA	0.483000														34			12		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20868116	20868116	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:20868116C>T	uc010sii.2	+	6	928	c.573C>T	c.(571-573)ttC>ttT	p.F191F	SLCO1C1_uc010sij.2_Intron|SLCO1C1_uc009zip.3_Silent_p.F25F|SLCO1C1_uc001rei.3_Silent_p.F191F|SLCO1C1_uc010sik.2_Silent_p.F73F	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	191					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TTTATGTTTTCCTGGGCAATC	0.398000														125			4		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234887	21234887	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:21234887G>A	uc002red.3	-	25	4981	c.4853C>T	c.(4852-4854)tCa>tTa	p.S1618L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1618					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAATTTAGTGATCCAGAAAG	0.428000														22			14		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228479769	228479769	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:228479769G>A	uc009xez.1	+	38	10554	c.10510G>A	c.(10510-10512)Gag>Aag	p.E3504K	OBSCN_uc001hsn.3_Missense_Mutation_p.E3504K|OBSCN_uc001hsq.1_Missense_Mutation_p.E760K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3504	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACCAGGTGTGAGCTGCAGAT	0.622000														78			32		0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133014436	133014436	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:133014436C>T	uc003qdo.3	-	3	573	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	185	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		AATTGATTTTCACCCATGAAA	0.358000														19			11		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382676	22382676	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:22382676C>T	uc001yuc.1	+	6	1185	c.204C>T	c.(202-204)ttC>ttT	p.F68F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.F68F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACTTGGCCTTCCTGGATGCAT	0.483000														251			54		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063268	9063268	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:9063268C>T	uc002mkp.3	-	2	24382	c.24178G>A	c.(24178-24180)Gat>Aat	p.D8060N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8062	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						GTCCCCACATCGGTCACTGTT	0.463000														59			27		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46815496	46815496	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:46815496C>T	uc002peh.3	+	6	880	c.849C>T	c.(847-849)tcC>tcT	p.S283S	HIF3A_uc002pef.2_Silent_p.S283S|HIF3A_uc002peg.4_Silent_p.S283S|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Silent_p.S227S|HIF3A_uc002pej.2_Silent_p.S214S|HIF3A_uc010xxy.2_Silent_p.S214S|HIF3A_uc002pel.3_Silent_p.S281S|HIF3A_uc010xxz.2_Silent_p.S232S	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	283	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.A283T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CGCTGGACTCCGATGCGGTCA	0.627000														77			44		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117582	117582	+	RNA	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrGL000205.1:117582C>T	uc002kgk.4	+	0		c.960C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGAGACAGCCGACTCCACCA	0.612000														33			6		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51192500	51192500	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:51192500C>T	uc002psx.1	-	14	2020	c.2001G>A	c.(1999-2001)caG>caA	p.Q667Q	SHANK1_uc002psw.1_Silent_p.Q51Q	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	667	PDZ.				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)		TGTCCTTCTTCTGCAGCAAGA	0.597000														107			37		0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88888279	88888279	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:88888279G>A	uc002stc.4	-	7	1608	c.1306_splice	c.e7+1	p.H436_splice		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	436					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATTCACTTACGAATTAAGGGT	0.348000														41			23		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451522	38451522	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:38451522C>T	uc003jlc.2	+	19	3019	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	EGFLAM_uc003jlb.2_Silent_p.F883F|EGFLAM_uc003jle.2_Silent_p.F649F|EGFLAM_uc003jlf.2_Silent_p.F249F|EGFLAM_uc003jlg.2_Silent_p.F26F	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	891	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACAGCGACTTCATTTCCTTGG	0.512000														85			5		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123255694	123255694	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:123255694C>T	uc003ieh.3	+	66	11887	c.11842C>T	c.(11842-11844)Cct>Tct	p.P3948S	KIAA1109_uc003iem.3_Intron	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3948					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCCACCTATTCCTGCAGGTAT	0.383000														46			37		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886755	123886755	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:123886755G>C	uc010sac.2	+	0	474	c.474G>C	c.(472-474)caG>caC	p.Q158H		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGCTGTCCAGACCATATTGA	0.572000														109			23		0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48523033	48523033	+	Missense_Mutation	SNP	A	T	T	rs144418346		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:48523033A>T	uc002pht.3	+	4	591	c.413A>T	c.(412-414)aAt>aTt	p.N138I		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	138	Fibronectin type-II 3.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TACAGAAATAATGTGGTCTCT	0.473000														31			16		0	0	1	0	0
MEST	4232	broad.mit.edu	37	7	130135278	130135278	+	Silent	SNP	A	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:130135278A>G	uc003vqg.3	+	1	352	c.96A>G	c.(94-96)ccA>ccG	p.P32P	MEST_uc003vqc.3_Silent_p.P23P|MEST_uc003vqd.3_Silent_p.P23P|MEST_uc022alp.1_Silent_p.P23P|MEST_uc003vqf.3_Silent_p.P23P|MEST_uc011kph.2_Silent_p.P32P|MIR335_uc011kpi.2_5'Flank	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	32					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TGCACATCCCACCCCCTCAGC	0.557000														55			24		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4725386	4725386	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:4725386C>T	uc003bqc.3	+	26	3707	c.3357C>T	c.(3355-3357)tcC>tcT	p.S1119S	ITPR1_uc021wsi.1_Silent_p.S1125S|ITPR1_uc021wsj.1_Silent_p.S1110S|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1134					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACTGAGGTCCATCGTGGAAA	0.468000														89			19		0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130460862	130460862	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:130460862C>T	uc003qbt.3	+	22	2483	c.2307C>T	c.(2305-2307)ttC>ttT	p.F769F	L3MBTL3_uc003qbu.3_Silent_p.F744F	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	769	SAM.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCCTGATGTTCAAAGCTGCAG	0.353000														23			3		0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1718140	1718140	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:1718140C>T	uc004cqa.3	+	3	1163	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	AKAP17A_uc010ncx.1_Missense_Mutation_p.R323C|AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	323					B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						AGAGAAGCTTCGCAAGAGGGA	0.582000														28			18		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218712777	218712777	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:218712777G>A	uc002vgt.2	-	16	2486	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F	TNS1_uc002vgr.2_Silent_p.F696F|TNS1_uc002vgs.2_Silent_p.F696F|TNS1_uc010zjv.1_Silent_p.F696F|TNS1_uc010fvj.1_Silent_p.F764F|TNS1_uc010fvk.1_Silent_p.F821F|TNS1_uc010fvi.1_Silent_p.F383F	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	696						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTGCTCGCGGGAACTCAGGGA	0.607000														45			16		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5076244	5076244	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:5076244G>A	uc002gau.1	+	37	6422	c.4192G>A	c.(4192-4194)Gat>Aat	p.D1398N	USP6_uc002gav.1_Missense_Mutation_p.D1398N|USP6_uc010ckz.1_Missense_Mutation_p.D1081N	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1398					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTCTGAGTCTGATTACGAAAA	0.453000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									28			8		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038034	62038034	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:62038034G>A	uc002yey.1	-	16	2759	c.2582C>T	c.(2581-2583)cCc>cTc	p.P861L	KCNQ2_uc002yez.1_Missense_Mutation_p.P830L|KCNQ2_uc002yfa.1_Missense_Mutation_p.P843L|KCNQ2_uc002yfb.1_Missense_Mutation_p.P833L	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	861					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTCACCAAAGGGACCCTCGCC	0.711000														12			4		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092751	151092751	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:151092751C>T	uc022cgv.1	+	0	615	c.615C>T	c.(613-615)atC>atT	p.I205I	MAGEA4_uc004fez.3_Silent_p.I205I|MAGEA4_uc004ffa.3_Silent_p.I205I|MAGEA4_uc004ffb.3_Silent_p.I205I|MAGEA4_uc022cgu.1_Silent_p.I233I|MAGEA4_uc004ffc.3_Silent_p.I205I|MAGEA4_uc004ffd.3_Silent_p.I205I	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	205	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGATAATCGTCCTGGGCA	0.562000														30			66		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266210	100266210	+	RNA	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:100266210C>T	uc021xqi.1	-	4		c.461G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTGGTGCCATCCTGCAGGGTC	0.552000														37			19		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57233610	57233610	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:57233610G>A	uc001cym.4	-	5	1360	c.954_splice	c.e5-1	p.R318_splice	C1orf168_uc009vzu.1_Splice_Site	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	318										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCATTGAAAAGCCTGGAGAAA	0.318000														36			4		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224759	3224759	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:3224759C>T	uc022aqr.1	-	19	3300	c.2910G>A	c.(2908-2910)atG>atA	p.M970I	CSMD1_uc011kwj.2_Missense_Mutation_p.M363I|CSMD1_uc003wqe.3_Missense_Mutation_p.M127I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	971	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTGAAAGATCATTTGAACTC	0.557000														10			5		0	0	1	0	0
NMD3	51068	broad.mit.edu	37	3	160968655	160968655	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:160968655C>T	uc003feb.1	+	15	1588	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	NMD3_uc003fec.3_Missense_Mutation_p.S490F|NMD3_uc003fed.1_Missense_Mutation_p.S490F	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	490	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CTTCATATTTCCCAAGATGCC	0.428000														53			14		0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203420956	203420956	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:203420956C>T	uc002uzf.4	+	11	3716	c.2568C>T	c.(2566-2568)acC>acT	p.T856T	BMPR2_uc010ftr.3_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	856					BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GTGAGGACACCCGGCTGAATA	0.468000														98			20		0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67451240	67451240	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:67451240G>A	uc021xae.1	-	9	1126	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	SUCLG2_uc010hob.3_Silent_p.I113I|SUCLG2_uc003dna.4_Silent_p.I366I	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	366					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CACAGTTGACGATACCACCAA	0.453000														34			15		0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96697813	96697813	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:96697813G>A	uc002svf.3	-	2	368	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	GPAT2_uc002svg.3_5'UTR|GPAT2_uc010yuh.2_Missense_Mutation_p.R49C|GPAT2_uc002svh.3_Missense_Mutation_p.R49C	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	49					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TGGCAACAGCGACCCACAAAG	0.607000														25			6		0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605957	116605957	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:116605957C>T	uc001lcb.3	+	9	1564	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	FAM160B1_uc001lcc.3_Missense_Mutation_p.S410F	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	410										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ATTCTCACATCCACTGCTCTG	0.428000														110			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262045	140262045	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:140262045C>T	uc003lif.2	+	0	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.F64F|PCDHAC2_uc003lid.3_Silent_p.F64F	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	77	Cadherin 1.				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)			CGCGCCTGTTCCGGGTGGCGT	0.612000														53			58		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155532400	155532400	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:155532400G>A	uc003qqb.3	+	16	4400	c.3127G>A	c.(3127-3129)Gat>Aat	p.D1043N	TIAM2_uc003qqe.3_Missense_Mutation_p.D1043N|TIAM2_uc010kjj.3_Missense_Mutation_p.D576N|TIAM2_uc003qqf.3_Missense_Mutation_p.D419N|TIAM2_uc011efl.1_Missense_Mutation_p.D379N|TIAM2_uc003qqg.3_Missense_Mutation_p.D355N	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1043					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGGCACTCTGGATCAGGTTTC	0.463000														34			20		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110866326	110866326	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:110866326C>T	uc001vqw.4	-	2	303	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	61					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGGAAACCCAATGACACCT	0.542000														94			49		0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9729454	9729455	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:9729454_9729455CC>TT	uc002gmd.1	+	0	74_75	c.74_75CC>TT	c.(73-75)ccc>cTT	p.P25L	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	25					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CACGAGCTGCCCATGGGCATCC	0.658000														11			12		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138657008	138657008	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:138657008C>T	uc011mdq.2	+	11	1241	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	KCNT1_uc011mdr.2_Silent_p.F216F|KCNT1_uc010nbf.3_Silent_p.F344F|KCNT1_uc004cgo.1_Silent_p.F138F	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	389						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCATGGACTTCCTGAACGAGT	0.647000														85			18		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124377707	124377707	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:124377707G>A	uc001lgk.1	+	37	4785	c.4679G>A	c.(4678-4680)gGa>gAa	p.G1560E	DMBT1_uc001lgl.1_Missense_Mutation_p.G1550E|DMBT1_uc001lgm.1_Missense_Mutation_p.G932E|DMBT1_uc021qaf.1_Missense_Mutation_p.G1560E|DMBT1_uc021qag.1_Missense_Mutation_p.G1550E|DMBT1_uc021qah.1_Missense_Mutation_p.G932E|DMBT1_uc009xzz.1_Missense_Mutation_p.G1560E|DMBT1_uc010qtx.1_Missense_Mutation_p.G411E|DMBT1_uc009yab.1_Missense_Mutation_p.G263E|DMBT1_uc009yac.1_5'Flank	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1560	SRCR 12.				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)				TCAGCCCCAGGAAATGCCCAG	0.612000														222			42		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964913	48964913	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:48964913C>T	uc010kyv.1	+	0	757	c.645C>T	c.(643-645)ccC>ccT	p.P215P						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		AACATTCTCCCGAGACTTATA	0.383000														18			8		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241660412	241660412	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:241660412G>T	uc010fzk.3	-	44	5034	c.4787C>A	c.(4786-4788)tCc>tAc	p.S1596Y	KIF1A_uc002vzy.3_Missense_Mutation_p.S1495Y|KIF1A_uc002vzw.3_Missense_Mutation_p.S156Y|KIF1A_uc002vzx.3_Missense_Mutation_p.S222Y	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1495	PH.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCCTAGAGGGGACATCGACGG	0.647000														14			6		2.0095e-06	2.02578e-06	1	1	0
TET2	54790	broad.mit.edu	37	4	106155754	106155754	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:106155754G>A	uc011cez.2	+	2	1123	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	TET2_uc003hxk.3_Missense_Mutation_p.E219K|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.E219K|TET2_uc010ilp.2_Missense_Mutation_p.E219K|TET2_uc021xql.1_Missense_Mutation_p.E219K	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	219					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTCTTCCGTGGAACACACACA	0.413000			"""Mis N, F"""		MDS									53			13		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656046	46656046	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:46656046G>A	uc003bhh.3	-	0	3174	c.3174C>T	c.(3172-3174)ctC>ctT	p.L1058L		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1058					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGGACACAGGGAGGCAGACTA	0.557000														14			8		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620266	7620266	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:7620266T>A	uc003bqm.2	+	7	1947	c.1673T>A	c.(1672-1674)aTg>aAg	p.M558K	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.M558K|GRM7_uc003bql.2_Missense_Mutation_p.M558K|GRM7_uc003bqn.1_Missense_Mutation_p.M141K|GRM7_uc010hch.1_Missense_Mutation_p.M69K	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	558					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTTGATGAGATGACATGCCAG	0.512000														64			35		0	0	1	0	0
CASP7	840	broad.mit.edu	37	10	115480834	115480834	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:115480834C>T	uc001lan.3	+	2	328	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	CASP7_uc001lam.3_Missense_Mutation_p.R52W|CASP7_uc001lao.3_Missense_Mutation_p.R85W|CASP7_uc001lap.3_Missense_Mutation_p.R52W|CASP7_uc001laq.3_Missense_Mutation_p.R52W|CASP7_uc010qsa.2_Missense_Mutation_p.R137W|CASP7_uc010qsb.2_Missense_Mutation_p.R27W	NM_033339	NP_203125	P55210	CASP7_HUMAN	Homo sapiens caspase 7, apoptosis-related cysteine peptidase (CASP7), transcript variant gamma, mRNA.	52					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding	p.E52G(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		CAAGACCACCCGGGACCGAGT	0.418000														50			33		0	0	1	0	0
LEMD2	221496	broad.mit.edu	37	6	33744925	33744925	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:33744925C>T	uc011drm.2	-	6	1261	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	LEMD2_uc010jvg.3_Silent_p.K125K|LEMD2_uc011drl.2_Silent_p.K114K	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	416						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CTATAATCTTCTTCACCATCT	0.527000														203			63		0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91454696	91454697	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:91454696_91454697CC>TT	uc010bnz.2	+	13	2140_2141	c.2025_2026CC>TT	c.(2023-2028)gtcctt>gtTTtt	p.L676F	MAN2A2_uc002bqc.3_Missense_Mutation_p.L676F|MAN2A2_uc010uql.2_Missense_Mutation_p.L338F|MAN2A2_uc010uqm.2_Missense_Mutation_p.L255F|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	676					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCGTGCGTGTCCTTTCGGAGGA	0.619000														68			37		0	0	1	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802820	31802820	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:31802820C>T	uc011acw.2	+	0	227	c.227C>T	c.(226-228)cCc>cTc	p.P76L		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	Homo sapiens keratin associated protein 13-4 (KRTAP13-4), mRNA.	76	4 X 10 AA approximate repeats.					intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTCTGCTGTCCCTGTCAGACG	0.597000														37			29		0	0	1	0	0
EGLN1	54583	broad.mit.edu	37	1	231509749	231509749	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:231509749G>A	uc001huv.2	-	1	4144	c.988C>T	c.(988-990)Ctt>Ttt	p.L330F	EGLN1_uc001huu.3_Missense_Mutation_p.L32F	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA.	330	Fe2OG dioxygenase.				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	TCTTTATTAAGATAATATATA	0.363000														25			8		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13885101	13885101	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:13885101G>A	uc003jfd.2	-	18	3022	c.2980C>T	c.(2980-2982)Cgg>Tgg	p.R994W		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	994	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R994Q(1)		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)					TTATTACCCCGGAAGTTAATT	0.438000									Kartagener syndrome					52			26		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430082	135430082	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:135430082C>A	uc004ezu.1	+	5	4508	c.4217C>A	c.(4216-4218)tCt>tAt	p.S1406Y	GPR112_uc010nsb.1_Missense_Mutation_p.S1201Y|GPR112_uc010nsc.1_Missense_Mutation_p.S1173Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1406					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGACTCACTCTGTCTCATAT	0.418000														12			45		1.03325e-14	1.05877e-14	1	1	0
AQP8	343	broad.mit.edu	37	16	25238413	25238413	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:25238413G>A	uc002doc.3	+	4	709	c.627G>A	c.(625-627)atG>atA	p.M209I		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	209					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GAGGCTGCATGAATCCCGCCC	0.612000														40			17		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42470756	42470756	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:42470756G>A	uc001zpd.3	-	9	915	c.764C>T	c.(763-765)cCc>cTc	p.P255L	VPS39_uc001zpc.3_Missense_Mutation_p.P244L	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	255	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		AATGATGTAGGGAGGCTGGTG	0.458000														51			27		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724787	113724787	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:113724787C>T	uc003eax.3	-	9	1583	c.1436G>A	c.(1435-1437)tGg>tAg	p.W479*	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Nonsense_Mutation_p.W457*|KIAA1407_uc011bip.1_Nonsense_Mutation_p.W466*	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	479										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGGCTTTTCCCACAAAGGGGG	0.473000														70			15		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342985	29342985	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:29342985C>T	uc003nme.3	-	0	84	c.80G>A	c.(79-81)gGg>gAg	p.G27E		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TAAGAAAATCCCAAAGAAGAA	0.383000														25			12		0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63256392	63256392	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:63256392G>A	uc001nwy.2	-	2	500	c.326C>T	c.(325-327)tCa>tTa	p.S109L	HRASLS5_uc001nwz.2_Missense_Mutation_p.S99L|HRASLS5_uc010rmq.1_Missense_Mutation_p.S109L|HRASLS5_uc009yos.2_Intron	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	109										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTTTGGAATTGAACTCCAGTC	0.408000														34			6		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673448	186673448	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:186673448C>T	uc002upl.3	+	16	19682	c.19682C>T	c.(19681-19683)tCa>tTa	p.S6561L	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACAATTAACTCAACAATTTCA	0.308000														18			19		0	0	1	0	0
SERHL2	253190	broad.mit.edu	37	22	42956231	42956231	+	Silent	SNP	G	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:42956231G>T	uc003bcr.3	+	7	675	c.573G>T	c.(571-573)ggG>ggT	p.G191G	SERHL2_uc011apn.1_Silent_p.G177G|SERHL2_uc010gyz.3_Silent_p.G127G|SERHL2_uc010gyy.3_Non-coding_Transcript|SERHL2_uc011apo.2_Non-coding_Transcript|RRP7B_uc003bcs.3_Intron	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN	Homo sapiens serine hydrolase-like 2 (SERHL2), mRNA.	191						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						AGGAGTGCGGGGAGCTTCTCC	0.502000														446			13		7.93312e-07	8.01595e-07	1	1	0
PPIG	9360	broad.mit.edu	37	2	170493279	170493279	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:170493279C>T	uc002uez.3	+	13	1731	c.1511C>T	c.(1510-1512)tCt>tTt	p.S504F	PPIG_uc010fpx.3_Missense_Mutation_p.S489F|PPIG_uc010fpy.3_Missense_Mutation_p.S497F|PPIG_uc002ufb.3_Missense_Mutation_p.S504F|PPIG_uc002ufd.3_Missense_Mutation_p.S501F	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	504					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GAAAAGCAGTCTGATTCTAAA	0.323000														15			7		0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188242550	188242550	+	Missense_Mutation	SNP	C	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:188242550C>A	uc003frs.2	+	4	650	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	LPP_uc011bsg.2_Missense_Mutation_p.S135Y|LPP_uc011bsi.2_Missense_Mutation_p.S135Y|LPP_uc003frt.3_Missense_Mutation_p.S135Y	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	135	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GAGTGCAGCTCCCCCTATAAG	0.547000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""									90			14		1.5739e-10	1.60335e-10	1	1	0
RANBP3	8498	broad.mit.edu	37	19	5918540	5918540	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:5918540G>A	uc002mdw.3	-	14	1667	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	RANBP3_uc002mdv.3_Silent_p.T199T|RANBP3_uc002mdx.3_Silent_p.T475T|RANBP3_uc002mdy.3_Silent_p.T412T|RANBP3_uc002mdz.3_Silent_p.T407T|RANBP3_uc010duq.3_Silent_p.T385T|RANBP3_uc010xix.2_Silent_p.T352T	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	Homo sapiens RAN binding protein 3 (RANBP3), transcript variant RANBP3-d, mRNA.	480	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CCTGGTCCTCGGTGTCCATGG	0.637000														31			15		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038255	62038255	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:62038255G>A	uc002yey.1	-	16	2538	c.2361C>T	c.(2359-2361)tcC>tcT	p.S787S	KCNQ2_uc002yez.1_Silent_p.S756S|KCNQ2_uc002yfa.1_Silent_p.S769S|KCNQ2_uc002yfb.1_Silent_p.S759S	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	787					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGATGGAGATGGACGTGTCGC	0.667000														9			7		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14823185	14823185	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:14823185G>A	uc003zlm.3	-	13	3126	c.2310C>T	c.(2308-2310)atC>atT	p.I770I	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	770					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCACTGGGAGGATTGTAATGT	0.418000														46			12		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21728868	21728868	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:21728868G>A	uc001rfb.3	-	2	682	c.427C>T	c.(427-429)Cct>Tct	p.P143S		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	143					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCATGATAAGGAATGCCGACA	0.428000														72			37		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54913090	54913091	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:54913090_54913091GG>AA	uc001sgc.4	+	15	1678_1679	c.1599_1600GG>AA	c.(1597-1602)gtggaa>gtAAaa	p.E534K	NCKAP1L_uc010sox.2_Missense_Mutation_p.E76K|NCKAP1L_uc010soy.2_Missense_Mutation_p.E484K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	534					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AATTGCTGGTGGAAACTTCTGA	0.426000														36			27		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091330	17091330	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:17091330C>T	uc002nfb.3	-	13	1735	c.1703G>A	c.(1702-1704)cGt>cAt	p.R568H		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	521						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTGTTAAACGAATCGGTTT	0.587000														61			13		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137622106	137622106	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:137622106G>A	uc004cfe.3	+	6	1331	c.949G>A	c.(949-951)Gct>Act	p.A317T		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	317	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCACGGAAGCTGCTCCCAT	0.642000														84			48		0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18604259	18604259	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:18604259C>T	uc002znw.1	+	0	386	c.89C>T	c.(88-90)tCa>tTa	p.S30L	TUBA8_uc002znv.2_Missense_Mutation_p.S6L|TUBA8_uc021wkt.1_5'UTR	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	6					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GAATGCATATCAGTCCACGTG	0.577000														105			5		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432549	104432549	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:104432549G>A	uc004bbp.2	-	2	2746	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S	GRIN3A_uc004bbq.1_Silent_p.S715S	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	715					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTGAAGAAAAGGAGAAGACTT	0.448000														105			15		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31320648	31320648	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:31320648C>T	uc021sia.1	-	23	3545	c.3231G>A	c.(3229-3231)gaG>gaA	p.E1077E	TRPM1_uc010azy.3_Silent_p.E945E|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.E1060E|TRPM1_uc001zfm.3_Silent_p.E1038E	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1038					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCCGCTTGCCCTCCTCATCAT	0.458000														56			12		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42298225	42298225	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:42298225C>T	uc021sjp.1	-	3	488	c.488G>A	c.(487-489)cGa>cAa	p.R163Q		NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	145					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GGTTTTCTTTCGGAAACAGAG	0.507000														31			16		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43048456	43048456	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:43048456G>A	uc002xma.3	+	6	921	c.832G>A	c.(832-834)Gag>Aag	p.E278K	HNF4A_uc002xlt.3_Missense_Mutation_p.E256K|HNF4A_uc002xlu.3_Missense_Mutation_p.E256K|HNF4A_uc002xlv.3_Missense_Mutation_p.E256K|HNF4A_uc002xly.3_Missense_Mutation_p.E278K|HNF4A_uc010ggq.3_Missense_Mutation_p.E271K|HNF4A_uc002xlz.3_Missense_Mutation_p.E278K	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	278					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCCTTCCAGGAGCTGCAGAT	0.562000														56			32		0	0	1	0	0
ALKBH4	54784	broad.mit.edu	37	7	102100168	102100168	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:102100168G>T	uc003uzl.3	-	1	242	c.204C>A	c.(202-204)ttC>ttA	p.F68L	ALKBH4_uc003uzm.3_Intron	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	Homo sapiens alkB, alkylation repair homolog 4 (E. coli) (ALKBH4), mRNA.	68						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						CTGGGAAGGGGAAGGCCCAGC	0.572000														164			17		1.67942e-08	1.70486e-08	1	1	0
POTEF	728378	broad.mit.edu	37	2	130877893	130877893	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:130877893G>A	uc010fmh.2	-	2	596	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	66						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGCAGTGGCGGCACCACTTG	0.602000														341			5		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116335243	116335243	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:116335243C>T	uc021pyx.1	-	2	594	c.495G>A	c.(493-495)gtG>gtA	p.V165V	ABLIM1_uc021pyw.1_Silent_p.V165V|ABLIM1_uc021pyy.1_Silent_p.V105V|ABLIM1_uc021pyz.1_Silent_p.V99V|ABLIM1_uc021pza.1_Silent_p.V105V|ABLIM1_uc021pze.1_Silent_p.V89V|ABLIM1_uc021pzf.1_Silent_p.V99V|ABLIM1_uc021pzd.1_Silent_p.V13V	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	165	LIM zinc-binding 2.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTCGCCCTCCACGAACTCCC	0.537000														62			10		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33566662	33566662	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:33566662C>T	uc021qfs.1	+	1	2356	c.2232C>T	c.(2230-2232)ctC>ctT	p.L744L	C11orf41_uc001mun.1_Silent_p.L750L	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	744						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						CAACTTACCTCCCCAGGAAAC	0.572000														190			37		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50413426	50413426	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:50413426C>T	uc003daq.3	-	18	1779	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	CACNA2D2_uc003dap.3_Missense_Mutation_p.D581N	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	581					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	AGCTCCGCATCCAGGAAGTCC	0.592000														48			24		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542712	14542712	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:14542712C>T	uc010dln.3	-	0	888	c.434G>A	c.(433-435)aGa>aAa	p.R145K	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	145										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCAGGCAGCTCTGTGGAGCTT	0.582000														145			25		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101612647	101612647	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:101612647C>T	uc003yjr.3	-	8	855	c.704G>A	c.(703-705)gGa>gAa	p.G235E	SNX31_uc011lha.2_Missense_Mutation_p.G30E|SNX31_uc011lhb.2_Missense_Mutation_p.G136E	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	235					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTTGGCCCATCCTTTTTCAAT	0.358000														46			24		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71577257	71577257	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:71577257C>T	uc002shx.3	+	1	1496	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	ZNF638_uc010fec.2_Silent_p.S497S|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Silent_p.S391S|ZNF638_uc002shz.3_Silent_p.S391S|ZNF638_uc002shy.3_Silent_p.S391S|ZNF638_uc002sia.3_Silent_p.S391S|ZNF638_uc002sib.1_Silent_p.S391S	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	391					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGAAAGCATCCTGGCTACCAA	0.403000														71			45		0	0	1	0	0
LRR1	122769	broad.mit.edu	37	14	50074322	50074322	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:50074322T>A	uc001wwn.3	+	2	811	c.487T>A	c.(487-489)Tac>Aac	p.Y163N	NEMF_uc010anj.1_Intron|LRR1_uc010ank.3_Missense_Mutation_p.Y104N|LRR1_uc001wwp.3_Non-coding_Transcript|LRR1_uc001wwo.3_Intron	NM_152329	NP_689542	Q96L50	LLR1_HUMAN	Homo sapiens leucine rich repeat protein 1 (LRR1), transcript variant 1, mRNA.	163										kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCAGACTTCTTACTGTGGGCT	0.338000														25			3		0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	88325	88325	+	Silent	SNP	G	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrGL000219.1:88325G>T	uc022brb.1	-	2	319	c.6C>A	c.(4-6)gtC>gtA	p.V2V	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		AGGGTAAAAAGACCATTGTCG	0.413000														75			4		2.0095e-06	2.02578e-06	1	1	0
TNFRSF13B	23495	broad.mit.edu	37	17	16842985	16842985	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:16842985G>A	uc002gqs.1	-	4	771	c.758C>T	c.(757-759)cCc>cTc	p.P253L	TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.P207L	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	253					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						AGCACAAGTGGGGTCGGGGGT	0.657000									IgA Deficiency, Selective					29			11		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902461	40902461	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:40902461G>C	uc002onr.3	-	6	2067	c.1798C>G	c.(1798-1800)Ctc>Gtc	p.L600V	PRX_uc002onq.3_Missense_Mutation_p.L461V|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	600	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTTCAGGGAGTTTCATCTCA	0.557000														155			101		0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20940614	20940614	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:20940614C>T	uc001vxo.4	+	1	305	c.159C>T	c.(157-159)atC>atT	p.I53I	PNP_uc010ahm.2_Silent_p.I53I|PNP_uc010ahn.3_Silent_p.I53I|PNP_uc021rns.1_5'Flank	NM_000270	NP_000261	P00491	PNPH_HUMAN	Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.	53					NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	ACGGTGAAATCCCCAACTTTC	0.478000														25			6		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58135710	58135710	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:58135710C>T	uc003djj.2	+	36	6390	c.6225C>T	c.(6223-6225)ttC>ttT	p.F2075F	FLNB_uc010hne.2_Silent_p.F2106F|FLNB_uc003djk.2_Silent_p.F2064F|FLNB_uc010hnf.2_Silent_p.F2051F|FLNB_uc003djl.2_Silent_p.F1895F|FLNB_uc003djm.2_Silent_p.F1882F|FLNB_uc010hng.1_Non-coding_Transcript	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2075	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCACCAAATTCGCTGACGAGC	0.552000														126			75		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52825903	52825903	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:52825903T>A	uc003dfs.3	+	21	2742	c.2712T>A	c.(2710-2712)gaT>gaA	p.D904E	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.D762E|ITIH1_uc021wzg.1_Missense_Mutation_p.D616E|ITIH1_uc021wzh.1_Missense_Mutation_p.D616E|ITIH1_uc003dft.3_3'UTR|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	904	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCTACACTGATTATATCGTCC	0.592000														35			7		0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351978	132351978	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:132351978C>T	uc004exb.1	-	0	399	c.310G>A	c.(310-312)Gga>Aga	p.G104R		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	104						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R103S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TTCTTCTCTCCTTTCCTGTTG	0.587000														48			27		0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433833	73433833	+	Silent	SNP	G	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:73433833G>C	uc003dpl.1	-	9	1980	c.1884C>G	c.(1882-1884)gcC>gcG	p.A628A	PDZRN3_uc011bgh.1_Silent_p.A285A|PDZRN3_uc010hoe.1_Silent_p.A326A|PDZRN3_uc021xaq.1_5'UTR|PDZRN3_uc011bgf.1_Silent_p.A345A|PDZRN3_uc011bgg.1_Silent_p.A348A	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	628							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCGTGCAGTCGGCCGAAATGA	0.657000														137			11		0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573279	64573279	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:64573279C>T	uc010qio.2	-	2	1178	c.1158G>A	c.(1156-1158)cgG>cgA	p.R386R	EGR2_uc010qim.2_Silent_p.R373R|EGR2_uc010qin.2_Silent_p.R323R|EGR2_uc001jmi.3_Silent_p.R373R|EGR2_uc009xph.3_Silent_p.R373R	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	373					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.R373Q(1)|p.R373R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCATGCAGATCCGACACTGGA	0.617000														68			50		0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178981099	178981099	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:178981099G>A	uc002ulv.3	+	1	503	c.411G>A	c.(409-411)cgG>cgA	p.R137R		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	137	RRM 2.				cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AAGATCTGCGGGAAAAATTTA	0.368000														94			4		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37771307	37771307	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:37771307C>T	uc003asq.4	-	2	1054	c.268G>A	c.(268-270)Gag>Aag	p.E90K	ELFN2_uc021wph.1_Missense_Mutation_p.E90K	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	90						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TAGGAGATCTCGTTCTTGGTG	0.597000														24			26		0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26721946	26721946	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:26721946C>T	uc003xfc.1	-	0	977	c.541G>A	c.(541-543)Gag>Aag	p.E181K	ADRA1A_uc010lul.1_Missense_Mutation_p.E181K|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.E181K|ADRA1A_uc010lum.1_Missense_Mutation_p.E181K|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.E181K|ADRA1A_uc003xfh.1_Missense_Mutation_p.E181K|ADRA1A_uc022atd.1_Missense_Mutation_p.E181K	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	181					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TAGCCCGGCTCCTCGTTGATC	0.632000														35			14		0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24952547	24952547	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:24952547C>G	uc002rfk.3	+	14	3323	c.3064C>G	c.(3064-3066)Cct>Gct	p.P1022A	NCOA1_uc010eye.3_Missense_Mutation_p.P1022A|NCOA1_uc002rfi.3_Missense_Mutation_p.P871A|NCOA1_uc002rfj.3_Missense_Mutation_p.P1022A|NCOA1_uc002rfl.3_Missense_Mutation_p.P1022A	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1022									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGACGATGCCTGTTCAAGT	0.537000			T	PAX3	alveolar rhadomyosarcoma									69			44		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68619031	68619031	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:68619031G>A	uc010bib.3	-	16	2259	c.2172C>T	c.(2170-2172)tcC>tcT	p.S724S	ITGA11_uc002ari.3_Silent_p.S724S	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	724					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GCTCCTGGCCGGAGGAGAGCA	0.612000														8			3		0	0	1	0	0
APOM	55937	broad.mit.edu	37	6	31624330	31624330	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:31624330G>A	uc003nvl.3	+	1	269	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	APOM_uc003nvk.3_5'UTR	NM_019101	NP_061974	O95445	APOM_HUMAN	Homo sapiens apolipoprotein M (APOM), transcript variant 1, mRNA.	66					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						TTTTGACCCTGTGGACAACAT	0.552000														145			4		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849580	73849580	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:73849580G>A	uc003xzb.3	+	2	2578	c.1990G>A	c.(1990-1992)Gat>Aat	p.D664N		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	664					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGCTGCCAGGGATGGCACGCT	0.557000														64			17		0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36435631	36435631	+	Missense_Mutation	SNP	C	T	T	rs115982229	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:36435631C>T	uc002oco.3	+	2	2049	c.1597C>T	c.(1597-1599)Ccc>Tcc	p.P533S		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	533					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCGCACGCTCCCTTCCTGGG	0.682000														16			10		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130833124	130833124	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:130833124C>T	uc010fmh.2	-	16	2321	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	641						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATGTCTTTTTCTTTCTTACAA	0.338000														24			7		0	0	1	0	0
TAF5	6877	broad.mit.edu	37	10	105145100	105145100	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:105145100C>T	uc001kwv.3	+	7	1705	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F	TAF5_uc010qqq.2_Intron	NM_006951	NP_008882	Q15542	TAF5_HUMAN	Homo sapiens TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa (TAF5), mRNA.	561					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CTGCTTTCCTCTTCAGAGGAC	0.393000														28			7		0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135694410	135694410	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:135694410G>A	uc002tuc.2	+	3	274	c.241_splice	c.e3-1	p.I81_splice	CCNT2_uc010zbf.2_Splice_Site|CCNT2_uc002tub.2_Splice_Site_p.I81_splice|CCNT2_uc002tud.2_Splice_Site	NM_058241	NP_490595	O60583	CCNT2_HUMAN	Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA.	81					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CTTTTCTGCAGATAATATCGT	0.343000														25			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	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						TCATGGAAAAAGGGATAGCTG	0.522000														68			3		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50530596	50530596	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:50530596G>A	uc021pqb.1	+	0	6	c.6G>A	c.(4-6)atG>atA	p.M2I	C10orf71_uc021pqa.1_Missense_Mutation_p.M1I|C10orf71_uc021pqc.1_Missense_Mutation_p.M2I	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	2										endometrium(1)	1						AACAGATGATGCAAGGAAATA	0.532000														8			6		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205548882	205548882	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:205548882G>A	uc001hcv.4	+	1	320	c.234G>A	c.(232-234)ctG>ctA	p.L78L	MFSD4_uc010prk.2_Silent_p.L78L|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Silent_p.L23L	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	78					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CCTGCAGCCTGGCCCAGTCAC	0.617000														147			19		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128478361	128478361	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:128478361C>T	uc003vnz.4	+	6	1297	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L	FLNC_uc003voa.4_Missense_Mutation_p.P363L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	363					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAACGCAGTCCCTTTGAGGTG	0.597000														144			39		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101775562	101775562	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:101775562C>T	uc001pgl.3	-	4	1018	c.422G>A	c.(421-423)aGa>aAa	p.R141K		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	141	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CTGAACAGGTCTGTGAGGAAA	0.363000														37			8		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092434	30092434	+	RNA	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:30092434C>T	uc010dmc.3	+	0		c.809C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		TCCACCCCCTCCTCAAGTCGT	0.537000														76			21		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407704	105407704	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:105407704A>T	uc010axc.1	-	6	14204	c.14084T>A	c.(14083-14085)aTg>aAg	p.M4695K	AHNAK2_uc021sen.1_Missense_Mutation_p.M92K|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.M4595K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4695						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTCGAATCCATTCCAACTTC	0.408000														17			15		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238234251	238234251	+	Missense_Mutation	SNP	C	T	T	rs138694883		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:238234251C>T	uc002vwl.2	-	42	9730	c.9445G>A	c.(9445-9447)Gaa>Aaa	p.E3149K	COL6A3_uc002vwo.2_Missense_Mutation_p.E2943K|COL6A3_uc010znj.1_Missense_Mutation_p.E2542K|COL6A3_uc002vwj.2_Missense_Mutation_p.E530K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	3149	BPTI/Kunitz inhibitor.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AATTTGTTTTCGTTTCCACCA	0.398000														78			56		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187172969	187172969	+	Silent	SNP	G	A	A	rs139190582		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:187172969G>A	uc003iyy.3	+	9	1169	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	KLKB1_uc011clc.2_Silent_p.G164G|KLKB1_uc011cld.2_Silent_p.G328G	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	366	Apple 4.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGACACAAGGGAGCTCTGGTT	0.428000														78			38		0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31974673	31974673	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:31974673G>A	uc021yve.1	+	2	1120	c.558G>A	c.(556-558)gtG>gtA	p.V186V				Q5ST44	Q5ST44_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA.	182							electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										TTGTGGACGTGATTCCCTTTC	0.542000														6			3		0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754081	167754081	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:167754081C>T	uc003qvs.1	+	2	781	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	231	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTAAAGACTTCATCTTTGATG	0.403000														50			14		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53994476	53994476	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:53994476G>A	uc002acj.2	-	11	1466	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L	WDR72_uc010bfi.1_Missense_Mutation_p.S475L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	475										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTCTAATTTCGAAGAGAGACC	0.383000														60			22		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030010	79030010	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:79030010G>A	uc003kgc.3	+	1	5494	c.5422G>A	c.(5422-5424)Gaa>Aaa	p.E1808K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1808						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGTATAACAGAACCATCAAA	0.383000														46			69		0	0	1	0	0
TK2	7084	broad.mit.edu	37	16	66547653	66547653	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:66547653G>A	uc002eos.3	-	8	1031	c.680C>T	c.(679-681)cCc>cTc	p.P227L	TK2_uc021tjp.1_Non-coding_Transcript|TK2_uc010vip.2_Missense_Mutation_p.P130L|TK2_uc002eor.3_Missense_Mutation_p.P196L|TK2_uc010cdq.3_Missense_Mutation_p.P140S|TK2_uc010viq.2_Missense_Mutation_p.P209L|TK2_uc010vir.2_Missense_Mutation_p.P202L|TK2_uc010cdr.3_Missense_Mutation_p.P178L	NM_004614	NP_004605	O00142	KITM_HUMAN	Homo sapiens thymidine kinase 2, mitochondrial (TK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	227					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		GGCTGCCATGGGGAAAAGGCT	0.537000														15			5		0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	7968728	7968728	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:7968728G>A	uc003gko.3	-	19	1968	c.1825C>T	c.(1825-1827)Ctt>Ttt	p.L609F	ABLIM2_uc003gkk.3_Missense_Mutation_p.L234F|ABLIM2_uc003gkl.3_Missense_Mutation_p.L337F|ABLIM2_uc003gkm.4_Missense_Mutation_p.L557F|ABLIM2_uc003gkp.3_Missense_Mutation_p.L529F|ABLIM2_uc003gkq.3_Missense_Mutation_p.L570F|ABLIM2_uc003gkr.3_Missense_Mutation_p.L519F|ABLIM2_uc003gkj.4_Missense_Mutation_p.L643F|ABLIM2_uc003gki.3_Non-coding_Transcript	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	609	HP.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CAGAACAAAAGGGCTTTCTTC	0.617000														245			9		0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2936597	2936597	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:2936597G>A	uc002lws.4	-	2	367	c.236C>T	c.(235-237)tCc>tTc	p.S79F		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AATAGACCAGGAATCACTTCC	0.428000														23			15		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38153722	38153722	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:38153722C>T	uc003chp.1	+	24	3557	c.3536C>T	c.(3535-3537)tCc>tTc	p.S1179F	DLEC1_uc003cho.1_Missense_Mutation_p.S1179F|DLEC1_uc010hgv.1_Missense_Mutation_p.S1182F|DLEC1_uc003chr.1_Intron|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1179					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGCATGCTATCCCACGGGAAA	0.567000														71			38		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468611	66468611	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:66468611G>A	uc001ojd.3	-	15	3031	c.2959C>T	c.(2959-2961)Cta>Tta	p.L987L		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	987					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCGTTGCCTAGGCCCTGGGTG	0.647000														46			15		0	0	1	0	0
DQ586822	0	broad.mit.edu	37	15	84945188	84945188	+	RNA	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:84945188G>A	uc002bke.2	-	0		c.2062C>T								Homo sapiens cDNA FLJ34196 fis, clone FCBBF3019437.																		GTATCTACGGGGAGGGCCGTG	0.587000														13			4		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175567	51175567	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:51175567G>A	uc021tif.1	-	1	597	c.275C>T	c.(274-276)tCc>tTc	p.S92F	SALL1_uc021tid.1_Missense_Mutation_p.S92F|SALL1_uc021tie.1_Missense_Mutation_p.S189F|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	189					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P91L(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTTGATTACGGAGAAGTTGCC	0.632000														37			25		0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111901496	111901496	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:111901496G>A	uc011ebc.2	-	3	1541	c.926C>T	c.(925-927)cCt>cTt	p.P309L	TRAF3IP2-AS1_uc021zdu.1_Intron|TRAF3IP2-AS1_uc021zdv.1_Intron|TRAF3IP2_uc003pvg.3_Missense_Mutation_p.P309L|TRAF3IP2_uc003pvf.3_Missense_Mutation_p.P309L|TRAF3IP2_uc010kdw.3_Missense_Mutation_p.P309L|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.P309L	NM_147686	NP_679211	O43734	CIKS_HUMAN	Homo sapiens TRAF3 interacting protein 2 (TRAF3IP2), transcript variant 2, mRNA.	318					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CTTCTGCACAGGGTGCAGGCC	0.612000														57			15		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432314	20432314	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:20432314C>T	uc001iqg.1	+	4	1269	c.632C>T	c.(631-633)tCc>tTc	p.S211F	PLXDC2_uc001iqh.1_Missense_Mutation_p.S162F|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	211						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CCCAGTGTATCCAGAAATTCA	0.358000														33			23		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103234250	103234250	+	Missense_Mutation	SNP	C	T	T	rs62644499		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:103234250C>T	uc001tjq.1	-	11	1716	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	415			D -> N (in non-PKU HPA; haplotype 1).		L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GTGTATGGGTCGTAGCGAACT	0.463000														63			16		0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80739555	80739555	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:80739555C>T	uc002kfy.1	+	6	859	c.729C>T	c.(727-729)acC>acT	p.T243T	TBCD_uc002kfx.1_Silent_p.T226T|TBCD_uc002kfz.3_Silent_p.T243T	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	243					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CCTTCCAGACCATGCAGGGGG	0.577000											OREG0024827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			12		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5047024	5047024	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:5047024G>A	uc002cye.2	+	7	1129	c.949G>A	c.(949-951)Ggc>Agc	p.G317S		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	317	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CTATGCAGGGGGCTGGCATTA	0.537000														12			17		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48762114	48762114	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:48762114C>T	uc002isl.3	+	28	4238	c.4158C>T	c.(4156-4158)ccC>ccT	p.P1386P	ABCC3_uc002isn.3_Silent_p.P140P	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1386	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ACCTGGACCCCTTCGGCAGCT	0.612000														38			19		0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219562282	219562282	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:219562282C>T	uc002viu.3	+	23	3137	c.2858C>T	c.(2857-2859)tCc>tTc	p.S953F	STK36_uc002viv.3_Missense_Mutation_p.S932F|STK36_uc002vix.3_Silent_p.V14V	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	953					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		ATCCTCATGTCCATCCTGAAG	0.587000														58			11		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040243	107040243	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:107040243G>A	uc010ywi.1	-	19	4237	c.4180C>T	c.(4180-4182)Cgt>Tgt	p.R1394C		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1394	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATCAGTATACGAACGTGCTTA	0.358000														200			92		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49395274	49395274	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:49395274C>T	uc001jgi.3	-	16	2558	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	FRMPD2_uc001jgh.3_Missense_Mutation_p.D711N|FRMPD2_uc001jgj.3_Missense_Mutation_p.D712N	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	743					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GAGAGAGAGTCCCAGGTCATT	0.577000														25			6		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100232742	100232742	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:100232742C>T	uc003hus.4	-	6	984	c.900G>A	c.(898-900)caG>caA	p.Q300Q	ADH1B_uc003hut.4_Silent_p.Q260Q|ADH1B_uc011ceh.2_Silent_p.Q145Q|ADH1B_uc011cei.1_Silent_p.Q260Q	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	300					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTGAGAGGTTCTGGGAAGCAG	0.473000														121			71		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39341762	39341762	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:39341762C>T	uc003jlv.4	-	2	313	c.224G>A	c.(223-225)gGg>gAg	p.G75E		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	75	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCATCTTTTCCCATTAAATTG	0.443000														41			8		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50955123	50955123	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:50955123C>T	uc009xog.3	-	7	1234	c.1200G>A	c.(1198-1200)ggG>ggA	p.G400G	OGDHL_uc001jie.3_Silent_p.G373G|OGDHL_uc010qgt.2_Silent_p.G316G|OGDHL_uc010qgu.2_Silent_p.G164G|OGDHL_uc009xoh.2_Silent_p.G164G	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	373					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.A400T(3)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCTTTGTCTTCCCCTGCACCA	0.617000														67			20		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67508502	67508502	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:67508502G>A	uc002lkl.3	+	7	1076	c.879G>A	c.(877-879)aaG>aaA	p.K293K		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	293							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GTTCGTCAAAGATGTCTCGTG	0.483000														87			19		0	0	1	0	0
RPL38	6169	broad.mit.edu	37	17	72205447	72205447	+	Splice_Site	SNP	C	T	T	rs139896940	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:72205447C>T	uc002jjz.3	+	4	315	c.187_splice	c.e4+1	p.G63_splice	RPL38_uc002jka.3_Splice_Site_p.G63_splice	NM_000999	NP_001030335	P63173	RL38_HUMAN	Homo sapiens ribosomal protein L38 (RPL38), transcript variant 1, mRNA.	63					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome	p.P62P(1)		large_intestine(1)|pancreas(1)	2						CCCTGCCCCCCGGTGAGTGAG	0.502000														45			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179416689	179416689	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:179416689G>A	uc021vsy.1	-	283	83459	c.83234C>T	c.(83233-83235)tCa>tTa	p.S27745L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S21440L|TTN_uc021vta.1_Missense_Mutation_p.S21373L|TTN_uc021vtb.1_Missense_Mutation_p.S21248L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28672	Fibronectin type-III 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATAATGCTTGAGACAAGTGG	0.443000														73			11		0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90026361	90026361	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:90026361G>A	uc002bnz.2	-	2	483	c.459C>T	c.(457-459)atC>atT	p.I153I	RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_Silent_p.I37I	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN	Homo sapiens Rh family, C glycoprotein (RHCG), mRNA.	153					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AGAAAGTCATGATGAGCAGCT	0.547000														16			4		0	0	1	0	0
CEP170P1	645455	broad.mit.edu	37	4	119461477	119461477	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:119461477G>A	uc003icb.3	+	3	374	c.290G>A	c.(289-291)aGa>aAa	p.R97K						Homo sapiens centrosomal protein 170kDa pseudogene 1 (CEP170P1), non-coding RNA.																		GGTGATCCAAGACCTCAAGCA	0.433000														24			11		0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99797129	99797129	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:99797129C>T	uc003ppj.4	-	0	403	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	Homo sapiens chromosome 6 open reading frame 168 (C6orf168), mRNA.	40																	CGATGATGTCCCCATAAAAGG	0.587000														42			28		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69434069	69434069	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:69434069C>T	uc010lyz.3	+	5	1092	c.801C>T	c.(799-801)ccC>ccT	p.P267P	C8orf34_uc010lyy.2_Silent_p.P267P|C8orf34_uc003xyb.3_Silent_p.P156P	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	181					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TTCTGAGGCCCCGTGTGATTG	0.403000														27			16		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676141	11676141	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:11676141C>T	uc021zzo.1	-	1	890	c.638G>A	c.(637-639)gGg>gAg	p.G213E	THSD7A_uc021zzn.1_Missense_Mutation_p.G213E	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	213	TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTGCTGGAGCCCGCTGCCGCA	0.607000										HNSCC(18;0.044)				24			16		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48143406	48143406	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:48143406C>T	uc003gxz.3	-	14	1592	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	501	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TTTACAACTCCCGCCTCACTT	0.348000														54			10		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147027	26147027	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:26147027A>C	uc002dof.3	+	1	1221	c.829A>C	c.(829-831)Atg>Ctg	p.M277L		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	277					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.S276S(1)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CATTCACTCCATGGCCAAGGA	0.498000														58			36		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140266997	140266997	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:140266997G>A	uc010lnk.3	-	8	2188	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.L556L|DENND2A_uc003vvw.3_Silent_p.L556L|DENND2A_uc003vvx.3_Silent_p.L556L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	556										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGTACTCGATGAGTTCCCGGG	0.592000														21			5		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22259580	22259580	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:22259580C>T	uc003svg.3	-	8	755	c.442G>A	c.(442-444)Gat>Aat	p.D148N		NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CCGATTTCATCTCTTTCCTGG	0.438000														23			12		0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:4619828A>C	uc010vsg.2	+	4	510	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_uc002fyj.3_Silent_p.P94P|ARRB2_uc002fyk.3_Silent_p.P79P|ARRB2_uc002fyl.3_Silent_p.P94P|ARRB2_uc002fym.3_Silent_p.P79P|ARRB2_uc002fyn.3_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	94					G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667000														21			9		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94079205	94079205	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:94079205G>A	uc001ybv.1	+	24	3435	c.3352G>A	c.(3352-3354)Gac>Aac	p.D1118N	UNC79_uc001ybs.1_Missense_Mutation_p.D1096N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1273						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CGCTGGGATCGACCACCAGAC	0.512000														28			20		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885774	24885774	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:24885774C>T	uc001wpf.4	+	8	5137	c.4819C>T	c.(4819-4821)Ccc>Tcc	p.P1607S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1607					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTCCCCATGGCCCCTCAGGTC	0.557000														23			10		0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102516350	102516350	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:102516350G>A	uc002cdi.3	+	10	2096	c.676G>A	c.(676-678)Gga>Aga	p.G226R	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G425R(2)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTCTGGGAAAGGACCTGGGGC	0.622000														19			3		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119957997	119957997	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:119957997G>A	uc001txe.3	+	9	1505	c.1040_splice	c.e9+1	p.S347_splice	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	347										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTCAAATCAAGGTAGGAAAGC	0.507000														76			25		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582084	82582084	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:82582084C>T	uc003uhx.2	-	4	8474	c.8185G>A	c.(8185-8187)Gat>Aat	p.D2729N	PCLO_uc003uhv.2_Missense_Mutation_p.D2729N|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2660					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTACGCAAATCAATTACATCA	0.358000														12			10		0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52841704	52841704	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:52841704C>T	uc001sak.3	-	6	1330	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	428	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCCAGCCCTTCCAGCTTGTTC	0.592000														83			30		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81056323	81056323	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:81056323C>T	uc001kaf.2	+	12	1898	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	ZMIZ1_uc001kag.2_Silent_p.S318S|ZMIZ1_uc001kah.1_3'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	442	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)			CACTCACCTCCCCCAACTACC	0.637000														89			19		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127323764	127323764	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:127323764C>T	uc003ejp.3	+	3	495	c.438C>T	c.(436-438)cgC>cgT	p.R146R	MCM2_uc011bkm.2_Silent_p.R16R|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.R30R	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	146	Interaction with MYST2 (By similarity).				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|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						ACGAGGAGCGCCCTGCCCGCA	0.652000														18			6		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540549	28540549	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:28540549G>A	uc003nlo.3	-	3	3735	c.3117C>T	c.(3115-3117)ttC>ttT	p.F1039F		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1039					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ataataaagagaataatcttg	0.299000														49			4		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579419	82579419	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:82579419C>T	uc003uhx.2	-	5	10774	c.10485G>A	c.(10483-10485)ggG>ggA	p.G3495G	PCLO_uc003uhv.2_Silent_p.G3495G|PCLO_uc010lec.3_Silent_p.G460G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3426					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACCATATTTCCCTACACGAG	0.458000														36			49		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310107	56310107	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:56310107G>A	uc010rjl.2	-	0	627	c.627C>T	c.(625-627)tcC>tcT	p.S209S	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CGATGGTGAGGGAGCTGGAGA	0.507000														21			16		0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119736203	119736203	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:119736203G>A	uc003ici.4	-	5	1053	c.781C>T	c.(781-783)Cct>Tct	p.P261S	SEC24D_uc003icj.4_Missense_Mutation_p.P262S|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	261	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATAGAGTCAGGATCCAGCTTC	0.522000														78			40		0	0	1	0	0
ODF3L1	161753	broad.mit.edu	37	15	76016645	76016645	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:76016645G>A	uc002bax.1	+	0	327	c.105G>A	c.(103-105)atG>atA	p.M35I		NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN	Homo sapiens outer dense fiber of sperm tails 3-like 1 (ODF3L1), mRNA.	35										kidney(1)|lung(1)	2						CTGTCATCATGGCCAAGATCA	0.602000														54			29		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228168582	228168582	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:228168582G>A	uc002vom.2	+	44	4125	c.3963G>A	c.(3961-3963)aaG>aaA	p.K1321K	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1321	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TAGGAGAAAAGGGTAATCCTG	0.408000														28			10		0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53804996	53804996	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:53804996C>T	uc001scw.3	+	5	2427	c.2330C>T	c.(2329-2331)tCc>tTc	p.S777F	SP1_uc021qyf.1_Missense_Mutation_p.S729F|SP1_uc010sog.2_Missense_Mutation_p.S770F	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	777	Domain D.|VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GATCTGCAGTCCATTAATATC	0.547000														65			9		0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58806071	58806071	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:58806071C>T	uc002qry.1	+	3	1027	c.897C>T	c.(895-897)tcC>tcT	p.S299S	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		AGAACTCCTCCCTCGTCCAGC	0.517000														30			15		0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306476	27306476	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:27306476G>A	uc002rii.4	+	3	2536	c.2037G>A	c.(2035-2037)ggG>ggA	p.G679G	EMILIN1_uc002rik.4_5'UTR	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	679					cell adhesion	collagen		p.L678V(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACCTGGGGGCAACCAAGG	0.562000														59			37		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6470231	6470231	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:6470231C>T	uc001iji.1	-	16	2242	c.2158G>A	c.(2158-2160)Gac>Aac	p.D720N	PRKCQ_uc001ijj.2_Missense_Mutation_p.D687N|PRKCQ_uc009xim.2_Missense_Mutation_p.D624N|PRKCQ_uc009xin.2_Missense_Mutation_p.D651N|PRKCQ_uc010qax.2_Missense_Mutation_p.D562N	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	687					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ATATTCTGGTCCATGCTGTTG	0.468000														99			55		0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076823	93076823	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:93076823G>A	uc003kkl.1	-	0	487	c.447C>T	c.(445-447)atC>atT	p.I149I	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	149	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTCCCACAGCGATCCCCACAT	0.582000														12			12		0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183514226	183514226	+	Missense_Mutation	SNP	C	T	T	rs145036438		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:183514226C>T	uc001gqg.3	+	15	2399	c.2149C>T	c.(2149-2151)Cct>Tct	p.P717S	SMG7_uc010pob.2_Missense_Mutation_p.P700S|SMG7_uc021pga.1_Missense_Mutation_p.P629S|SMG7_uc001gqf.3_Missense_Mutation_p.P671S|SMG7_uc001gqh.3_Missense_Mutation_p.P671S|SMG7_uc010poc.2_Missense_Mutation_p.P675S	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	717	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GTCCCACATTCCTTACAGCCA	0.552000														106			106		0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57524951	57524951	+	Silent	SNP	G	A	A	rs138618347		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:57524951G>A	uc002aec.3	+	10	1151	c.867G>A	c.(865-867)acG>acA	p.T289T	TCF12_uc010ugm.1_Silent_p.T341T|TCF12_uc010ugn.1_Silent_p.T285T|TCF12_uc002aea.3_Silent_p.T289T|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Silent_p.T289T|TCF12_uc002aed.3_Silent_p.T289T|TCF12_uc010ugo.2_Silent_p.T53T|TCF12_uc002aee.3_Silent_p.T119T|TCF12_uc010bft.3_Silent_p.T119T	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	289					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACATAAACACGAGTCTTCCAC	0.408000			T	TEC	extraskeletal myxoid chondrosarcoma									44			15		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004086	75004086	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:75004086C>T	uc004ecj.2	-	0	994	c.801G>A	c.(799-801)ctG>ctA	p.L267L		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	267	MAGE 1.							p.L267V(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACACAAACTTCAGGGCTTCCA	0.488000														10			26		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176018433	176018433	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:176018433A>C	uc021yie.1	+	29	3956	c.3682A>C	c.(3682-3684)Aaa>Caa	p.K1228Q	CDHR2_uc003mem.2_Missense_Mutation_p.K1228Q|CDHR2_uc003men.1_Missense_Mutation_p.K1228Q	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1228					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCTCCCCAACAAAGACCTGGG	0.602000														167			7		0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44792335	44792335	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:44792335A>C	uc002oza.4	-	4	1356	c.1253T>G	c.(1252-1254)cTt>cGt	p.L418R	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.L414R	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ATGGGCCTGAAGATGTGATCT	0.423000														39			17		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419024	55419024	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:55419024C>T	uc001nhs.1	+	0	645	c.645C>T	c.(643-645)tcC>tcT	p.S215S		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGCTAATCTCCTACAGCATCA	0.478000														51			39		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542972	14542972	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:14542972C>T	uc010dln.3	-	0	628	c.174G>A	c.(172-174)agG>agA	p.R58R	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	58										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCATCTTGCTCCTGAGCATCT	0.577000														418			46		0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36793129	36793129	+	Silent	SNP	T	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:36793129T>C	uc010lvw.3	+	26	3228	c.3141T>C	c.(3139-3141)aaT>aaC	p.N1047N		NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	1047						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATAAAAGGAATGAAGAGTTCT	0.418000														57			40		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73461949	73461949	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:73461949C>T	uc001jrx.4	+	21	2952	c.2562C>T	c.(2560-2562)atC>atT	p.I854I	CDH23_uc001jry.3_Silent_p.I854I|CDH23_uc001jrz.3_Silent_p.I854I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	856	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGCGCAAAATCGTCGTCTCTG	0.642000														89			25		0	0	1	0	0
IL22	50616	broad.mit.edu	37	12	68647045	68647045	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:68647045C>T	uc001sty.1	-	0	237	c.184G>A	c.(184-186)Gag>Aag	p.E62K	IL22_uc010stb.1_Missense_Mutation_p.E62K	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Homo sapiens interleukin 22 (IL22), mRNA.	62					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ATGTATACCTCCTTAGCCAGC	0.488000														31			13		0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160328083	160328083	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:160328083C>T	uc003qsz.3	+	0	110	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_002377	NP_002368	P04201	MAS_HUMAN	Homo sapiens MAS1 oncogene (MAS1), mRNA.	32					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		ATCGGCAAATCCCCATCGTGC	0.512000														58			33		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769747	57769747	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:57769747C>T	uc002yan.3	+	0	3673	c.3673C>T	c.(3673-3675)Cct>Tct	p.P1225S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1225						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAATGGCCCTCCTGGGAGCAA	0.632000														23			15		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131521549	131521549	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:131521549C>T	uc021voy.1	+	0	1904	c.1904C>T	c.(1903-1905)cCt>cTt	p.P635L	FAM123C_uc002trw.2_Missense_Mutation_p.P635L|FAM123C_uc010fmv.2_Missense_Mutation_p.P635L|FAM123C_uc010fms.1_Missense_Mutation_p.P635L|FAM123C_uc010fmt.1_Missense_Mutation_p.P635L|FAM123C_uc010fmu.1_Missense_Mutation_p.P635L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	635										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCCCCAGTTCCTTCTACCTGG	0.582000														30			4		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45717935	45717935	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:45717935G>A	uc002xsm.3	+	7	1093	c.719G>A	c.(718-720)aGg>aAg	p.R240K	EYA2_uc010ghp.3_Missense_Mutation_p.R240K|EYA2_uc002xsq.3_Missense_Mutation_p.R240K	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	240					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GACACAGACAGGCCGCACCGG	0.572000														72			31		0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12474403	12474403	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:12474403G>A	uc002mtr.1	-	2	654	c.43C>T	c.(43-45)Cct>Tct	p.P15S	ZNF442_uc010xmk.1_Intron	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TGAGAGTCAGGAAGGAAGAGA	0.478000														76			30		0	0	1	0	0
GDE1	51573	broad.mit.edu	37	16	19514870	19514870	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:19514870T>G	uc002dgh.3	-	5	1082	c.918A>C	c.(916-918)gaA>gaC	p.E306D	GDE1_uc002dgi.3_Missense_Mutation_p.E196D	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase 1 (GDE1), mRNA.	306	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						AGTAACTCTTTTCATCAAAGG	0.458000											OREG0023659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			21		0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890745	2890745	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:2890745C>T	uc003mug.3	-	6	904	c.783G>A	c.(781-783)aaG>aaA	p.K261K	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_Silent_p.K64K	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	261					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCTCAGTACTCTTCATACAGT	0.413000														53			39		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106357629	106357629	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:106357629C>T	uc021ser.1	-	3794		c.57337_splice	c.e3794-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron					Parts of antibodies, mostly variable regions.																		GGGAGCCTTCCCTTGCTGGGG	0.587000														6			8		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22591956	22591956	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:22591956G>A	uc001wdd.2	+	2	188	c.41_splice	c.e2-1	p.G14_splice	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Splice_Site_p.G14_splice|TCRA_uc001wde.1_Splice_Site|TCRA_uc010aji.1_Splice_Site_p.G14_splice					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		GACCCCTTAGGAACTATAATT	0.438000														62			42		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31571214	31571214	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:31571214G>A	uc002rnv.1	-	27	3146	c.3067C>T	c.(3067-3069)Cat>Tat	p.H1023Y		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1023					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTGTACACATGAAGTAGGGCT	0.522000														17			4		0	0	1	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176072467	176072467	+	Silent	SNP	C	T	T	rs115095188	by1000genomes	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:176072467C>T	uc010jkf.1	+	7	1148	c.564C>T	c.(562-564)atC>atT	p.I188I	TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.3_5'Flank|TSPAN17_uc003meu.3_5'Flank|TSPAN17_uc003mew.3_5'Flank	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 1B (EIF4E1B), mRNA.	188					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGACAAGATCGCTGTGTGGA	0.622000														87			8		0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7132918	7132919	+	Missense_Mutation	DNP	GG	AA	AA	rs151191814		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:7132918_7132919GG>AA	uc002gez.1	-	5	1017_1018	c.735_736CC>TT	c.(733-738)ccccgc>ccTTgc	p.R246C	DVL2_uc010vtr.1_Missense_Mutation_p.R240C|DVL2_uc010vts.1_Missense_Mutation_p.R148C|DVL2_uc010clz.1_3'UTR	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	246					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	p.R246H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTCTCCAGGCGGGGTGGCCTCT	0.663000														78			24		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651410	142651410	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:142651410C>T	uc003wcb.3	-	7	995	c.785G>A	c.(784-786)gGa>gAa	p.G262E		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	262					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)					TGGGTCTCCTCCCAGCAAGGT	0.547000														56			28		0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74585419	74585419	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:74585419G>A	uc003xzm.3	-	5	674	c.333C>T	c.(331-333)gcC>gcT	p.A111A	STAU2_uc011lfh.2_Silent_p.A7A|STAU2_uc003xzn.3_Silent_p.A79A|STAU2_uc011lfg.2_Intron|STAU2_uc003xzo.3_Silent_p.A111A|STAU2_uc003xzq.3_Intron|STAU2_uc003xzp.3_Silent_p.A79A|STAU2_uc011lfi.2_Silent_p.A73A|STAU2_uc010lzk.3_Silent_p.A79A|STAU2_uc010lzl.1_Intron|STAU2_uc003xzs.3_Silent_p.A79A|STAU2_uc003xzr.3_Silent_p.A73A	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	111	DRBM 2.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GCCTGTAGATGGCAGGCTCTC	0.388000														35			15		0	0	1	0	0
FAM55B	120406	broad.mit.edu	37	11	114568808	114568808	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:114568808G>A	uc009yyy.2	+	2	272	c.174G>A	c.(172-174)ggG>ggA	p.G58G		NM_182495	NP_872301	Q96DL1	FA55B_HUMAN	Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA.	58						integral to membrane		p.G58R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1)	14						TGAACCAAGGGAACATCTTCA	0.358000														9			3		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48761313	48761313	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:48761313G>A	uc002isl.3	+	27	4038	c.3958G>A	c.(3958-3960)Ggg>Agg	p.G1320R	ABCC3_uc002isn.3_Missense_Mutation_p.G74R	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1320	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CGCCCAGGTGGGGATCGTGGG	0.612000														13			19		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823556	38823556	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:38823556C>T	uc003avs.1	-	1	679	c.582G>A	c.(580-582)tcG>tcA	p.S194S	KCNJ4_uc003avt.1_Silent_p.S194S|KCNJ4_uc021wpp.1_Silent_p.S194S	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	194					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGTCGCGCACCGAAATGACCG	0.632000														68			18		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101011649	101011649	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:101011649C>T	uc003yjb.1	-	19	2986	c.2791_splice	c.e19-1	p.V931_splice	RGS22_uc003yja.1_Splice_Site_p.V750_splice|RGS22_uc003yjc.1_Splice_Site_p.V919_splice|RGS22_uc022azf.1_Splice_Site_p.V320_splice	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	931	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AATGCATTACCTAAGAAAATT	0.368000														39			11		0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367835	99367835	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:99367835C>T	uc003urv.2	-	4	449	c.342G>A	c.(340-342)atG>atA	p.M114I	CYP3A4_uc003urw.2_Missense_Mutation_p.M114I|CYP3A4_uc011kiz.2_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	114					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TGGCACTTTTCATAAATCCCA	0.408000														60			13		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306001	54306001	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:54306001G>A	uc021smr.1	+	0	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	UNC13C_uc021sms.1_Missense_Mutation_p.E301K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	301					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTCTCGGAGGGAAACTAGAGA	0.428000														104			42		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50779290	50779290	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:50779290C>T	uc010enu.1	+	27	3557	c.3510C>T	c.(3508-3510)tcC>tcT	p.S1170S	MYH14_uc002prq.1_Silent_p.S1137S|MYH14_uc002prr.1_Silent_p.S1129S|MYH14_uc010ycb.2_5'Flank	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1129					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGCTGAAATCCCTGCGGGAGG	0.672000														22			8		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887856	25887856	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:25887856G>A	uc001isj.3	+	10	3361	c.3301G>A	c.(3301-3303)Gag>Aag	p.E1101K	GPR158_uc001isk.3_Missense_Mutation_p.E476K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1101						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGGGCAAAAGAGGAGAACGG	0.498000														60			5		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39103760	39103760	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:39103760G>A	uc004abi.3	-	15	2756	c.2517C>T	c.(2515-2517)ttC>ttT	p.F839F	CNTNAP3_uc004abj.3_Silent_p.F838F|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.F839F	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	839	Laminin G-like 3.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAATCCTGATGAAATCTGTGA	0.448000														23			10		0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137488311	137488311	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:137488311C>T	uc003lcf.1	-	20	2771	c.2716G>A	c.(2716-2718)Gat>Aat	p.D906N		NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	906					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCCTCTGGATCCTCAGTTTCC	0.537000														545			18		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47602344	47602344	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:47602344C>T	uc003gxm.3	-	20	2926	c.2833G>A	c.(2833-2835)Gga>Aga	p.G945R	CORIN_uc011bzf.2_Missense_Mutation_p.G806R|CORIN_uc011bzg.2_Missense_Mutation_p.G878R	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	945	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CGGACCTCTCCCTCTTGCAGC	0.393000														24			15		0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66210331	66210331	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:66210331C>T	uc002apm.2	-	15	2200	c.2059G>A	c.(2059-2061)Gga>Aga	p.G687R	MEGF11_uc002apl.2_Missense_Mutation_p.G612R|MEGF11_uc002apn.1_Missense_Mutation_p.G687R	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	687	EGF-like 11.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CCAATCCATCCAGGAAAGCAC	0.582000														24			13		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99012752	99012752	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:99012752G>A	uc010fij.3	+	7	1272	c.1131G>A	c.(1129-1131)gtG>gtA	p.V377V	CNGA3_uc002syt.3_Silent_p.V373V|CNGA3_uc002syu.3_Silent_p.V355V			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	373					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CACCCCCCGTGAAAGATGAGG	0.507000														61			15		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540465	55540465	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:55540465C>T	uc003xsd.1	+	3	4171	c.4023C>T	c.(4021-4023)acC>acT	p.T1341T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1341					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCTGCAATACCATTGACTTTT	0.373000														58			14		0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18604238	18604238	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:18604238C>T	uc002znw.1	+	0	365	c.68C>T	c.(67-69)tCc>tTc	p.S23F	TUBA8_uc002znv.2_Intron|TUBA8_uc021wkt.1_Intron	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	0					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.L23L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GCTTCCCTCTCCCCACAGCGG	0.617000														83			5		0	0	1	0	0
MRPL1	65008	broad.mit.edu	37	4	78873669	78873669	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:78873669C>T	uc003hku.2	+	8	1084	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	296							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TGCTTTCCTTCGTAGTTCAAC	0.363000														33			10		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4824843	4824843	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:4824843G>A	uc021qcs.1	-	0	768	c.768C>T	c.(766-768)atC>atT	p.I256I		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGGCTGGGATATAAAGAG	0.483000														113			5		0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136681016	136681016	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:136681016C>T	uc011edg.2	-	15	2194	c.1945_splice	c.e15-1	p.K649_splice	MAP7_uc011edf.2_Splice_Site_p.K604_splice|MAP7_uc010kgu.3_Splice_Site_p.K641_splice|MAP7_uc011edh.2_Splice_Site_p.K604_splice|MAP7_uc010kgv.3_Splice_Site_p.K641_splice|MAP7_uc010kgs.3_Splice_Site_p.K473_splice|MAP7_uc011edi.2_Splice_Site_p.K473_splice|MAP7_uc010kgq.2_Splice_Site_p.K525_splice|MAP7_uc003qgz.3_Splice_Site_p.K619_splice|MAP7_uc003qha.2_Splice_Site_p.K582_splice	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	619					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CACTGGTTTTCTACGAAGAAG	0.333000														86			36		0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149557878	149557878	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:149557878C>T	uc010lpn.3	+	6	1821	c.1629C>T	c.(1627-1629)ctC>ctT	p.L543L		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						ACACTGCCCTCGTTCCAGAGA	0.488000														91			10		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81422151	81422151	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:81422151G>A	uc001xvd.1	+	0	283	c.127G>A	c.(127-129)Gat>Aat	p.D43N	CEP128_uc001xva.1_Intron|TSHR_uc001xvb.1_Missense_Mutation_p.D43N|TSHR_uc001xvc.3_Missense_Mutation_p.D43N|TSHR_uc010tvs.2_Missense_Mutation_p.D43N	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	43					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CACCTGCAAGGATATTCAACG	0.602000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							77			53		0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106157936	106157936	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:106157936C>T	uc011cez.2	+	2	3305	c.2900C>T	c.(2899-2901)aCt>aTt	p.T967I	TET2_uc003hxk.3_Missense_Mutation_p.T946I|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.T946I|TET2_uc010ilp.2_Missense_Mutation_p.T946I|TET2_uc021xql.1_Missense_Mutation_p.T946I	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	946	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.Q966fs*5(1)|p.Q966*(1)|p.Q966fs*42(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAGAAGGACACTCAAAAGCAT	0.488000			"""Mis N, F"""		MDS									35			14		0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160328409	160328409	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:160328409G>A	uc003qsz.3	+	0	436	c.422G>A	c.(421-423)cGa>cAa	p.R141Q		NM_002377	NP_002368	P04201	MAS_HUMAN	Homo sapiens MAS1 oncogene (MAS1), mRNA.	141					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		ATCTGGTACCGATGCCATCGC	0.527000														79			42		0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101483841	101483841	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:101483841C>T	uc001kqb.4	-	4	1239	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	COX15_uc001kqc.4_Missense_Mutation_p.E208K|COX15_uc010qpj.2_Missense_Mutation_p.E29K	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	Homo sapiens COX15 homolog, cytochrome c oxidase assembly protein (yeast) (COX15), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	208					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TCTGATTTTTCTTCTAGTCCA	0.473000														34			18		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352422	168352422	+	Missense_Mutation	SNP	C	T	T	rs117682852	by1000genomes	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:168352422C>T	uc021zik.1	+	28	4563	c.4244C>T	c.(4243-4245)cCc>cTc	p.P1415L	MLLT4_uc003qwb.1_Missense_Mutation_p.P1440L|MLLT4_uc003qwc.2_Missense_Mutation_p.P1456L|MLLT4_uc021zij.1_Missense_Mutation_p.P1439L|MLLT4_uc021zim.1_Missense_Mutation_p.P1002L|MLLT4_uc003qwg.1_Missense_Mutation_p.P765L	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1456					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCGTTTTCTCCCCTGACTGCA	0.617000			T	MLL	AL									105			48		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73636140	73636140	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:73636140C>T	uc002avp.3	-	1	1789	c.795G>A	c.(793-795)tgG>tgA	p.W265*		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	265					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)		TGGTCAGGTCCCAGTAAAATC	0.517000														47			23		0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156731	26156731	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:26156731C>T	uc003ngq.3	+	0	173	c.113C>T	c.(112-114)cCc>cTc	p.P38L	HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.	38	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCGTCTGGGCCCCCGGTGTCC	0.662000														66			19		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94248558	94248558	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:94248558C>T	uc003kkx.2	-	8	1474	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	MCTP1_uc003kkv.2_Missense_Mutation_p.D271N|MCTP1_uc003kkw.2_Missense_Mutation_p.D225N|MCTP1_uc003kkz.2_Missense_Mutation_p.D153N|MCTP1_uc003kku.2_Missense_Mutation_p.D8N	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	492	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.S491S(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ACGTAGGGATCGCTCAACCCG	0.468000														45			12		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148927001	148927001	+	Missense_Mutation	SNP	A	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:148927001A>G	uc003ewy.4	-	3	1031	c.778T>C	c.(778-780)Tat>Cat	p.Y260H	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.Y41H|CP_uc003ewz.3_Missense_Mutation_p.Y260H|CP_uc010hvf.1_5'Flank	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	260	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATCTTACAATACATTCTGTTA	0.358000														47			24		0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118971734	118971734	+	Nonsense_Mutation	SNP	G	A	A	rs122468181		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:118971734G>A	uc004erz.2	-	9	1388	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	UPF3B_uc004esa.2_Nonsense_Mutation_p.R417*	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	430	Necessary for interaction with RBM8A and for activating NMD.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTCTTATTCGATCTCTCTTG	0.373000														34			11		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10433157	10433157	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:10433157C>T	uc010coi.3	-	22	3060	c.2932G>A	c.(2932-2934)Gaa>Aaa	p.E978K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E978K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	978					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACCTTGTTTTCTGTGGCATGT	0.418000														85			22		0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8010816	8010816	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:8010816C>T	uc003gko.3	-	13	1481	c.1338G>A	c.(1336-1338)tcG>tcA	p.S446S	ABLIM2_uc003gkk.3_Silent_p.S109S|ABLIM2_uc003gkl.3_Silent_p.S173S|ABLIM2_uc003gkm.4_Silent_p.S394S|ABLIM2_uc003gkp.3_Silent_p.S405S|ABLIM2_uc003gkq.3_Silent_p.S446S|ABLIM2_uc003gkr.3_Silent_p.S394S|ABLIM2_uc003gkj.4_Silent_p.S479S|ABLIM2_uc003gks.3_Silent_p.S405S	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	446					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCTCCCCATCCGATCGCCTGG	0.493000														59			39		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146570	70146570	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:70146570G>A	uc003hej.3	+	0	354	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	UGT2B28_uc010ihr.3_Missense_Mutation_p.E118K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	118					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AATCCTGTGGGAATTTCATGA	0.299000														58			21		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2942185	2942185	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:2942185G>A	uc011mhj.2	+	5	1025	c.1025G>A	c.(1024-1026)gGg>gAg	p.G342E		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	342						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGCTGGAACGGGATCTACAAA	0.527000														12			15		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159560442	159560442	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:159560442C>T	uc003ipz.3	+	13	1337	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	RXFP1_uc010iqj.2_Silent_p.I187I|RXFP1_uc010iqk.3_Silent_p.I226I|RXFP1_uc011cja.2_Silent_p.I253I|RXFP1_uc010iqo.3_Silent_p.I310I|RXFP1_uc011cjb.2_Silent_p.I256I|RXFP1_uc011cjc.2_Silent_p.I277I|RXFP1_uc011cjd.2_Silent_p.I277I|RXFP1_uc010iql.3_Silent_p.I202I|RXFP1_uc011cje.2_Silent_p.I385I|RXFP1_uc010iqm.3_Silent_p.I325I|RXFP1_uc011cjf.2_Silent_p.I227I|RXFP1_uc010iqn.3_Silent_p.I303I	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	358						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)		TTTCAAATATCCAACAAAGGA	0.274000														20			6		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173385	57173385	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:57173385G>A	uc001cyk.4	+	8	1729	c.1658G>A	c.(1657-1659)tGa>tAa	p.*553*		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	0					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TTAGCCCGTTGATCTGTCTCT	0.363000														55			25		0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737555	248737555	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:248737555G>A	uc001iep.1	-	0	504	c.504C>T	c.(502-504)acC>acT	p.T168T		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAAGCTCATGGTAATGGGGG	0.517000														48			14		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102824954	102824954	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:102824954G>A	uc001phl.3	-	3	597	c.568C>T	c.(568-570)Cct>Tct	p.P190S		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	190					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GGCCCAGGAGGAAAAGCATGA	0.443000														14			10		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43860578	43860578	+	Missense_Mutation	SNP	T	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:43860578T>G	uc010skx.2	-	8	1244	c.1244A>C	c.(1243-1245)gAt>gCt	p.D415A		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	415	Peptidase M12B.					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)		TCTAGGATTATCATCATGTTG	0.323000														22			8		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577332	9577332	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:9577332C>T	uc002mlp.1	-	9	2501	c.2291G>A	c.(2290-2292)gGa>gAa	p.G764E	ZNF560_uc010dwr.1_Missense_Mutation_p.G658E	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GGGTTTCTCTCCCATATGAGT	0.448000														64			6		0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117869813	117869813	+	Missense_Mutation	SNP	G	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:117869813G>T	uc001prv.3	+	6	1271	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	IL10RA_uc010rxl.2_Missense_Mutation_p.Q378H|IL10RA_uc010rxm.2_Missense_Mutation_p.Q378H|IL10RA_uc010rxn.2_Missense_Mutation_p.Q249H|IL10RA_uc001prw.3_Missense_Mutation_p.Q249H	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	398						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GCAGGGGCCAGGATGACAGTG	0.652000														31			10		7.48243e-07	7.56933e-07	1	1	0
SLC1A5	6510	broad.mit.edu	37	19	47281944	47281945	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:47281944_47281945CC>TT	uc002pfs.3	-	4	1665_1666	c.1045_1046GG>AA	c.(1045-1047)ggg>AAg	p.G349K	SLC1A5_uc010xyh.2_Missense_Mutation_p.G147K|SLC1A5_uc002pfq.3_Missense_Mutation_p.G173K|SLC1A5_uc002pfr.3_Missense_Mutation_p.G121K	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	349					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GGAAGAGGTCCCAAAGGCAGTG	0.584000														17			6		0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90794788	90794788	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:90794788C>T	uc002bpd.1	+	2	548	c.260C>T	c.(259-261)tCa>tTa	p.S87L	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	87	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CATTCCAGATCACTGGCCATC	0.478000														268			96		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2048778	2048778	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:2048778C>T	uc003wpx.4	+	19	2691	c.2553C>T	c.(2551-2553)ttC>ttT	p.F851F	MYOM2_uc011kwi.2_Silent_p.F276F	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	851	Fibronectin type-III 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)		TCGTGGACTTCAGGGAGGAGG	0.537000														41			23		0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27277853	27277853	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:27277853C>T	uc001bni.2	-	1	1112	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	340										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GAGACCTGAGCCCACCATGGT	0.657000														10			4		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101606314	101606314	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:101606314C>T	uc002bwr.3	+	31	5991	c.5672C>T	c.(5671-5673)tCt>tTt	p.S1891F	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1891					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCGACAGGTCTGAGCATGAC	0.617000														134			63		0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19504138	19504138	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:19504138C>T	uc011aha.2	+	16	1703	c.1625C>T	c.(1624-1626)cCc>cTc	p.P542L	CDC45_uc002zpr.3_Missense_Mutation_p.P510L|CDC45_uc002zpt.3_Missense_Mutation_p.P464L	NM_001178010	NP_001171481	O75419	CDC45_HUMAN	Homo sapiens cell division cycle 45 homolog (S. cerevisiae) (CDC45), transcript variant 1, mRNA.	510					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTGGGCATCCCCCCAGAGACC	0.617000														37			26		0	0	1	0	0
TIMM50	92609	broad.mit.edu	37	19	39971456	39971456	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:39971456G>A	uc002olu.1	+	0	405	c.272G>A	c.(271-273)aGg>aAg	p.R91K	TIMM50_uc002olt.1_Non-coding_Transcript	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	65					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGGCGAAGAGGGAGCGAGTG	0.731000														10			8		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125289062	125289062	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:125289062C>T	uc004bmn.1	-	0	511	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGAGCAATTTCCCCAGTCACA	0.502000														20			8		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133814214	133814214	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:133814214G>A	uc001qgx.4	-	2	541	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	IGSF9B_uc001qgz.2_Non-coding_Transcript	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	104	Ig-like 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCCTCAGAGCGAACTTGTTCC	0.567000														19			3		0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096883	107096883	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:107096883C>T	uc003dwi.1	+	0	696	c.449C>T	c.(448-450)tCc>tTc	p.S150F		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	150										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AATTCCTGCTCCACGATACAT	0.398000														29			22		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108051333	108051333	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:108051333C>T	uc001tmk.1	+	16	3674	c.3153C>T	c.(3151-3153)ctC>ctT	p.L1051L	BTBD11_uc001tml.1_Silent_p.L588L|BTBD11_uc001tmm.1_Silent_p.L130L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	1051						integral to membrane	DNA binding			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						GCTACTTTCTCAAAAACATGA	0.473000														29			22		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77425737	77425737	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:77425737C>T	uc004ajl.1	-	12	1729	c.1491G>A	c.(1489-1491)gtG>gtA	p.V497V	TRPM6_uc004ajk.1_Silent_p.V492V|TRPM6_uc022bib.1_Silent_p.V492V|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.V497V|TRPM6_uc010mpd.1_Silent_p.V497V|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	497					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTACCTGTTTCACATCTTGGA	0.368000														17			13		0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112102354	112102354	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:112102354C>T	uc003vgh.3	+	8	1297	c.827C>T	c.(826-828)tCt>tTt	p.S276F	IFRD1_uc011kmn.2_Missense_Mutation_p.S226F|IFRD1_uc003vgj.3_Missense_Mutation_p.S276F|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Missense_Mutation_p.S226F	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	276					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AGCCTCCTCTCTTGTGATGAT	0.363000														22			15		0	0	1	0	0
HEYL	26508	broad.mit.edu	37	1	40092586	40092586	+	Missense_Mutation	SNP	C	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:40092586C>G	uc001cdp.3	-	4	631	c.580G>C	c.(580-582)Gcc>Ccc	p.A194P	HEYL_uc010oiw.2_Missense_Mutation_p.A166P	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.	194	Pro-rich.				Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCCAGGATGGCGAGCTGGTTG	0.667000														20			3		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66946031	66946031	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:66946031C>T	uc002eql.3	-	12	1755	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	CDH16_uc010cdy.3_Missense_Mutation_p.E521K|CDH16_uc021tjx.1_Missense_Mutation_p.E521K|CDH16_uc002eqm.3_Missense_Mutation_p.E424K	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	521	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGAGCTGCCTCATAACTGAGG	0.637000														34			19		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1532654	1532654	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:1532654G>A	uc003skn.2	-	15	2258	c.2157C>T	c.(2155-2157)ctC>ctT	p.L719L	INTS1_uc003skp.1_Silent_p.L66L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	719					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACCCCGGTGGGAGCTGGATGT	0.672000														36			15		0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48081953	48081953	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:48081953C>T	uc003gxx.4	-	10	1235	c.1149G>A	c.(1147-1149)agG>agA	p.R383R	TXK_uc010igj.3_Non-coding_Transcript|TXK_uc011bzj.2_Silent_p.R70R	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	383	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TATAGCCATTCCTCTCCAGAT	0.353000														109			54		0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65088297	65088297	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:65088297C>T	uc003juf.3	+	8	1520	c.1342C>T	c.(1342-1344)Cat>Tat	p.H448Y	NLN_uc003jue.3_Missense_Mutation_p.H448Y|NLN_uc010iww.3_Missense_Mutation_p.H143Y	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA.	448					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AAAATACAATCATGCGGCCTG	0.547000														66			79		0	0	1	0	0
OXCT2	64064	broad.mit.edu	37	1	40236095	40236095	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:40236095C>T	uc001ceb.1	-	0	926	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	278					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	GCGCTCAATTCGTTTCTCGTA	0.517000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		83			30		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554679	140554679	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:140554679G>A	uc003lit.3	+	0	2437	c.2263G>A	c.(2263-2265)Gga>Aga	p.G755R	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	755					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCCTGACTGGAGGCTCCGG	0.562000														98			4		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73128179	73128179	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:73128179C>T	uc010izf.3	+	9	1217	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	RGNEF_uc011csq.2_Silent_p.I347I|RGNEF_uc003kcy.1_Silent_p.I347I|RGNEF_uc021yam.1_Silent_p.I347I|RGNEF_uc011csr.2_Silent_p.I34I	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	347					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CCTTCGATATCCTAAAAAAAT	0.433000														8			11		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14964645	14964645	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:14964645G>A	uc003bzc.3	+	15	4010	c.3900G>A	c.(3898-3900)ctG>ctA	p.L1300L	FGD5_uc011avk.2_Silent_p.L1300L|FGD5_uc003bzd.3_Silent_p.L378L	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1300					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCGGGGAGCTGAAGAAGCGGG	0.627000														18			14		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400774	89400774	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:89400774C>T	uc010upo.1	+	11	5332	c.4958C>T	c.(4957-4959)cCa>cTa	p.P1653L	ACAN_uc010upp.1_Missense_Mutation_p.P1653L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1653					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTGGACTTCCATCTGGATTC	0.527000														146			26		0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802771	124802771	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:124802771G>A	uc003ehw.4	-	13	2265	c.2195C>T	c.(2194-2196)tCc>tTc	p.S732F	SLC12A8_uc003ehv.4_Missense_Mutation_p.S703F|SLC12A8_uc003eht.4_Missense_Mutation_p.S504F|SLC12A8_uc010hry.3_3'UTR	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	703					potassium ion transport	integral to membrane	symporter activity	p.A732S(1)		endometrium(2)|kidney(2)|lung(12)	16						GTTCACGAGGGAGGAGTGGTG	0.572000														18			4		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	TT	TT	rs121913377		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:140453136_140453137AC>TT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AA	c.(1798-1800)gtg>AAg	p.V600K		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					48			38		0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50112638	50112638	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:50112638C>T	uc003cyc.3	+	19	3369	c.3121C>T	c.(3121-3123)Cgt>Tgt	p.R1041C	RBM6_uc003cyd.3_Missense_Mutation_p.R519C|RBM6_uc011bdi.2_Missense_Mutation_p.R383C|RBM6_uc003cye.3_Missense_Mutation_p.R519C|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	1041					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TTGCAGTGATCGTAAACTTGT	0.468000														29			9		0	0	1	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36764118	36764118	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:36764118G>A	uc010tei.2	-	10	1152	c.837C>T	c.(835-837)atC>atT	p.I279I	CCDC169-SOHLH2_uc001uvj.3_Silent_p.I202I	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	279					regulation of transcription, DNA-dependent	nucleus		p.I202I(1)									GAAGAAGAGAGATCTTTTTGT	0.313000														35			16		0	0	1	0	0
MAPRE3	22924	broad.mit.edu	37	2	27245162	27245162	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:27245162G>A	uc002rhw.3	+	1	229	c.76G>A	c.(76-78)Gac>Aac	p.D26N	MAPRE3_uc010yld.2_Missense_Mutation_p.D26N	NM_012326	NP_036458	Q9UPY8	MARE3_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 3 (MAPRE3), mRNA.	26	CH.				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGGTCAACGACTCCCTGCA	0.488000														74			28		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87772372	87772372	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:87772372A>C	uc003ujn.3	+	14	1467	c.1252A>C	c.(1252-1254)Aat>Cat	p.N418H	ADAM22_uc003ujk.2_Missense_Mutation_p.N418H|ADAM22_uc003ujl.2_Missense_Mutation_p.N418H|ADAM22_uc003ujm.3_Missense_Mutation_p.N418H|ADAM22_uc003ujo.3_Missense_Mutation_p.N418H|ADAM22_uc003ujp.1_Missense_Mutation_p.N470H	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	418	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CACCCAGTGTAATATTGAAGA	0.348000														70			26		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46262244	46262244	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:46262244G>A	uc002xtk.3	+	8	1089	c.828G>A	c.(826-828)aaG>aaA	p.K276K	NCOA3_uc002xtl.3_Silent_p.K276K|NCOA3_uc002xtn.3_Silent_p.K276K|NCOA3_uc010ght.2_Silent_p.K276K|NCOA3_uc002xtm.3_Silent_p.K276K|NCOA3_uc010zyc.2_Silent_p.K78K	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	276					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TAATAGGAAAGGTTGTCAATA	0.353000														26			18		0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7345135	7345135	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:7345135C>T	uc010vtw.1	+	4	424	c.280C>T	c.(280-282)Cat>Tat	p.H94Y	FGF11_uc010cmh.1_Non-coding_Transcript|FGF11_uc010cmi.3_5'UTR|FGF11_uc002ggz.3_Silent_p.T115T|FGF11_uc010vtx.2_Silent_p.T56T			Q8N4L4	SPEM1_HUMAN	Homo sapiens fibroblast growth factor 11 (FGF11), mRNA.	219					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GTGTGGTCACCATCCAGAGCG	0.592000														16			6		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18292236	18292236	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:18292236G>A	uc001ipo.2	+	11	2169	c.1896G>A	c.(1894-1896)tgG>tgA	p.W632*	SLC39A12_uc001ipn.2_Nonsense_Mutation_p.W595*|SLC39A12_uc001ipp.2_Nonsense_Mutation_p.W631*|SLC39A12_uc010qck.1_Nonsense_Mutation_p.W498*|LOC100129213_uc001ipq.1_Non-coding_Transcript	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	632					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTCAAGACTGGATCTTCACAG	0.398000														84			5		0	0	1	0	0
LOC643802	643802	broad.mit.edu	37	16	53404747	53404747	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:53404747C>T	uc021tik.1	-	0	295	c.155G>A	c.(154-156)gGa>gAa	p.G52E		NM_001207030	NP_001193959			Homo sapiens u3 small nucleolar ribonucleoprotein protein MPP10-like (LOC643802), mRNA.																		TCTTGGTTTTCCATGTCCTGT	0.398000														19			8		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44053082	44053082	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:44053082G>A	uc001jaw.4	-	1	1099	c.446C>T	c.(445-447)cCc>cTc	p.P149L	ZNF239_uc001jax.4_Missense_Mutation_p.P149L|ZNF239_uc009xmj.3_Missense_Mutation_p.P149L|ZNF239_uc009xmk.3_Missense_Mutation_p.P149L|ZNF239_uc021pph.1_Missense_Mutation_p.P149L	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACAGTCAATGGGATCCAAAGA	0.443000														28			15		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34077940	34077940	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:34077940G>A	uc001zhi.3	+	65	9416	c.9346G>A	c.(9346-9348)Gac>Aac	p.D3116N	RYR3_uc010bar.3_Missense_Mutation_p.D3116N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3116					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAATCAACGACCTGGCCGA	0.552000														44			27		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141093334	141093334	+	Missense_Mutation	SNP	G	A	A	rs139868893	byFrequency	TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:141093334G>A	uc002tvj.1	-	77	12938	c.11966C>T	c.(11965-11967)tCt>tTt	p.S3989F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3989					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGCATTCTAGAATGATCAGT	0.463000										TSP Lung(27;0.18)				65			12		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1090784	1090784	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:1090784A>T	uc001lsx.1	+	27	3706	c.3679A>T	c.(3679-3681)Aag>Tag	p.K1227*		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1227						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCCCCAGGAAAGATTCTTAA	0.557000														22			15		0	0	1	0	0
ABHD4	63874	broad.mit.edu	37	14	23072594	23072595	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:23072594_23072595CC>AT	uc001wgm.3	+	2	481_482	c.412_413CC>AT	c.(412-414)ccc>ATc	p.P138I	ABHD4_uc010tmz.1_Missense_Mutation_p.P138I|ABHD4_uc010tna.1_Missense_Mutation_p.P138I|ABHD4_uc010tnb.2_Non-coding_Transcript	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA.	138					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CATGGGGATCCCCAGCATGATC	0.559000														24			32		0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43748520	43748520	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:43748520C>T	uc003owh.3	+	5	1512	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	VEGFA_uc003owd.3_Intron|VEGFA_uc010jyx.3_Intron|VEGFA_uc003owf.3_Silent_p.S338S|VEGFA_uc003owg.3_Silent_p.S338S|VEGFA_uc003owe.3_Intron|VEGFA_uc021yzu.1_Silent_p.S337S|VEGFA_uc003owj.3_Intron|VEGFA_uc003owi.3_Intron|VEGFA_uc003owk.3_Intron	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	158					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GCAAGAAATCCCGGTATAAGT	0.552000														105			23		0	0	1	0	0
C1QTNF4	114900	broad.mit.edu	37	11	47612288	47612288	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:47612288G>A	uc021qit.1	-	0	75	c.75C>T	c.(73-75)tcC>tcT	p.S25S	C1QTNF4_uc001ngc.2_Silent_p.S25S	NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 4 (C1QTNF4), mRNA.	25	C1q 1.					extracellular region				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GCAGCTCAGAGGATCCCGGGC	0.731000														9			7		0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399237	46399237	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:46399237G>A	uc003cpn.4	+	1	704	c.219G>A	c.(217-219)ctG>ctA	p.L73L	CCR2_uc003cpm.4_Silent_p.L73L|CCR2_uc021wxa.1_Silent_p.L73L	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	73					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GCAAAAAGCTGAAGTGCTTGA	0.488000														71			34		0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97482409	97482409	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:97482409G>A	uc003uot.4	-	11	1945	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	ASNS_uc011kin.2_Missense_Mutation_p.S397F|ASNS_uc011kio.2_Missense_Mutation_p.S459F|ASNS_uc003uou.4_Missense_Mutation_p.S480F|ASNS_uc003uov.4_Missense_Mutation_p.S480F|ASNS_uc003uox.4_Missense_Mutation_p.S397F	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	480	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTAAACCAGGAATTCTTAAC	0.388000														10			15		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071976	197071976	+	Silent	SNP	A	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:197071976A>G	uc001gtu.3	-	17	6662	c.6405T>C	c.(6403-6405)agT>agC	p.S2135S	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2135	IQ 17.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTATGGTAACTTATTCTTG	0.338000														57			31		0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24545621	24545621	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr14:24545621G>A	uc010tnv.2	+	12	1422	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	CPNE6_uc001wlm.3_Missense_Mutation_p.E196K|CPNE6_uc001wll.3_Missense_Mutation_p.E371K|CPNE6_uc001wln.3_5'UTR	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	371	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCCCAACTTCGAGGTAGGCTA	0.597000														103			29		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921266	24921266	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:24921266C>T	uc001ywo.3	+	0	726	c.252C>T	c.(250-252)gtC>gtT	p.V84V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	84					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTCTGGGGGTCCTGCCGGCTG	0.687000														26			10		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40033984	40033984	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:40033984G>A	uc002xka.1	-	36	7575	c.7397C>T	c.(7396-7398)cCa>cTa	p.P2466L	CHD6_uc002xjz.1_Missense_Mutation_p.P3L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2466					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CATGAACAGTGGCCCCATTCC	0.587000														40			30		0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35862349	35862349	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:35862349C>T	uc021usn.1	+	0	93	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S		NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	30						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.L29L(2)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGTGGGGCTCCCCCTCAACCT	0.642000														41			26		0	0	1	0	0
LSP1	4046	broad.mit.edu	37	11	1904749	1904749	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:1904749G>A	uc001lui.3	+	3	632	c.457G>A	c.(457-459)Gac>Aac	p.D153N	LSP1_uc001luj.3_Missense_Mutation_p.D281N|LSP1_uc001luk.3_Missense_Mutation_p.D91N|LSP1_uc001lul.3_Missense_Mutation_p.D91N|LSP1_uc001lum.3_Missense_Mutation_p.D91N	NM_002339	NP_001013273	P33241	LSP1_HUMAN	Homo sapiens lymphocyte-specific protein 1 (LSP1), transcript variant 1, mRNA.	153					cellular component movement|cellular defense response	Golgi apparatus|actin cytoskeleton|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		CACTGTCCAGGACAACCTGGG	0.632000														24			5		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39883631	39883631	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:39883631C>T	uc003axv.4	+	1	518	c.279C>T	c.(277-279)ctC>ctT	p.L93L	MGAT3_uc010gxy.3_Silent_p.L93L	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	93					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.E92E(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCGAGGAGCTCCACCGGGTGG	0.687000														46			17		0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102762446	102762446	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:102762446C>T	uc001ksj.3	+	1	321	c.151C>T	c.(151-153)Cct>Tct	p.P51S	LZTS2_uc010qpw.2_Missense_Mutation_p.P51S|LZTS2_uc001ksk.3_Missense_Mutation_p.P51S|LZTS2_uc001ksl.3_Missense_Mutation_p.P51S|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	51	Required for centrosomal localization (By similarity).				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CCACGGCCCTCCTGGGCCCAC	0.687000														54			17		0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88259733	88259733	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:88259733C>T	uc001kdn.3	-	3	1405	c.1396G>A	c.(1396-1398)Gat>Aat	p.D466N	WAPAL_uc001kdo.3_Missense_Mutation_p.D423N|WAPAL_uc009xsw.3_Missense_Mutation_p.D423N	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	423	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AGTTTAACATCCTTTTTGGAT	0.353000														17			11		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538995	56538995	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:56538995G>A	uc002qmj.3	+	6	1396	c.1396G>A	c.(1396-1398)Gac>Aac	p.D466N	NLRP5_uc002qmi.3_Missense_Mutation_p.D447N	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	466	NACHT.					mitochondrion|nucleolus	ATP binding	p.D466G(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGCTGCTCGACCAGTGCCA	0.617000														31			15		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117735	117735	+	RNA	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrGL000205.1:117735C>T	uc002kgk.4	+	0		c.1113C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TGGGCCTCATCGGCTTCGGTC	0.612000														65			4		0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120929178	120929178	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:120929178C>T	uc001pxo.3	+	5	1042	c.837C>T	c.(835-837)gcC>gcT	p.A279A	TBCEL_uc009zay.3_Silent_p.A279A|TBCEL_uc001pxp.3_Silent_p.A135A|TBCEL_uc001pxq.3_Non-coding_Transcript	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	279	LRRCT.					cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TGGTAATAGCCAGGTCTGTTG	0.378000														79			14		0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44851076	44851076	+	Missense_Mutation	SNP	T	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:44851076T>A	uc002ikv.2	-	1	399	c.280A>T	c.(280-282)Ata>Tta	p.I94L		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	94					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CTGTCATCTATGGTGGTGCAG	0.652000														36			22		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42227313	42227313	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:42227313G>A	uc003ose.2	-	8	2656	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	TRERF1_uc011duq.1_Missense_Mutation_p.S595L|TRERF1_uc003osb.2_Missense_Mutation_p.S434L|TRERF1_uc003osc.2_Missense_Mutation_p.S434L|TRERF1_uc003osd.2_Missense_Mutation_p.S678L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	678	Interacts with CREBBP.|Pro-rich.				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)			GGTGGCGCCCGAGTAGGAGGC	0.687000														81			14		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754627	49754627	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:49754627C>T	uc003ozu.3	-	0	427	c.274G>A	c.(274-276)Gat>Aat	p.D92N		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	92					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AACAGAACATCCTTGCCCAGC	0.512000														64			64		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5021084	5021084	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:5021084C>T	uc010qyu.2	+	0	872	c.872C>T	c.(871-873)cCt>cTt	p.P291L		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCCTTAACCCTATTGTCTAT	0.458000														42			18		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89245904	89245905	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:89245904_89245905CC>TT	uc002fmt.3	+	1	200_201	c.123_124CC>TT	c.(121-126)agccgc>agTTgc	p.R42C	CDH15_uc010cij.1_Missense_Mutation_p.R42C	NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	42					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CTGCCCTGAGCCGCGTGCGGAG	0.668000														69			18		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438016	204438016	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:204438016G>A	uc001haw.3	-	2	1394	c.915C>T	c.(913-915)cgC>cgT	p.R305R	PIK3C2B_uc010pqv.2_Silent_p.R305R|PIK3C2B_uc001hax.1_Silent_p.R305R|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	305					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CAGAAATCCGGCGGTTCTTGC	0.577000														42			20		0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701065	8701065	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:8701065G>A	uc002glp.2	-	0	1603	c.1374C>T	c.(1372-1374)ctC>ctT	p.L458L		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	458						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TCTGAATGGGGAGGACGGACC	0.612000														98			7		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321427	52321427	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:52321427G>A	uc003xqu.4	-	16	2858	c.2757C>T	c.(2755-2757)ctC>ctT	p.L919L	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	919					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.L919L(1)|p.L118L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGTCTTCAGGAGACCCCGAG	0.607000														30			9		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150703561	150703561	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:150703561C>T	uc003wif.3	+	14	2095	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	NOS3_uc011kuy.2_Missense_Mutation_p.S394F	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	600	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TACAACAGCTCCCCTCGGCCG	0.532000														185			30		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812708	141812708	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:141812708C>T	uc002tvj.1	-	9	2501	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	510					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCATCACTTCCCAAGTTGAA	0.433000										TSP Lung(27;0.18)				41			7		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39044448	39044448	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:39044448G>A	uc003xmt.4	+	10	1181	c.936G>A	c.(934-936)ctG>ctA	p.L312L	ADAM32_uc011lch.2_Intron|ADAM32_uc003xmu.4_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	312	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGATAACTCTGGAGGCATTTG	0.348000														28			11		0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35469240	35469240	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:35469240C>T	uc021wir.1	+	0	1743	c.1743C>T	c.(1741-1743)acC>acT	p.T581T	SLC5A3_uc002yto.3_Silent_p.T581T|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	581						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATAATGAGACCATCAACCACA	0.463000														68			30		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768734	88768734	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:88768734C>T	uc001kee.2	+	11	1929	c.725C>T	c.(724-726)tCc>tTc	p.S242F	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	242	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTGCCCCCCTCCCCTCATGCC	0.493000														55			11		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42259355	42259355	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:42259355C>T	uc001uyj.3	-	34	4225	c.4155G>A	c.(4153-4155)tgG>tgA	p.W1385*		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1385						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		ATGGTCTCTTCCAAGAATAAA	0.383000														21			8		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376369	117376369	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:117376369G>A	uc001prh.1	-	8	2044	c.2042C>T	c.(2041-2043)tCg>tTg	p.S681L		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	621	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CATGTCCCCCGAGGACACCAC	0.612000														27			17		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40337903	40337903	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:40337903T>C	uc003gva.1	+	1	140	c.124T>C	c.(124-126)Tat>Cat	p.Y42H		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	42					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TTTTGAAGATTATTCTAATGC	0.408000														55			10		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960522	73960522	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:73960522G>A	uc004eby.3	-	2	4487	c.3870C>T	c.(3868-3870)agC>agT	p.S1290S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1290					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCCAGCCTGGGCTGCTCTCCT	0.507000														5			24		0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985307	240985307	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:240985307G>A	uc010zoe.2	-	0	183	c.183C>T	c.(181-183)taC>taT	p.Y61Y	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y61Y(2)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGCTCAGAAAGTAGTACATGG	0.552000														107			6		0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4731692	4731692	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:4731692C>T	uc002cxa.3	+	12	1410	c.1273C>T	c.(1273-1275)Cag>Tag	p.Q425*	MGRN1_uc002cwz.3_Nonsense_Mutation_p.Q425*|MGRN1_uc010uxo.2_Nonsense_Mutation_p.Q403*|MGRN1_uc010uxp.2_Nonsense_Mutation_p.Q403*|MGRN1_uc010btw.3_Nonsense_Mutation_p.Q404*|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	425					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CGGCCTGTCCCAGGCCAGCTG	0.667000														78			17		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012878	29012878	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:29012878C>T	uc003nlw.2	-	0	75	c.75G>A	c.(73-75)atG>atA	p.M25I	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTGACAGGATCATCTCCATTT	0.408000														87			11		0	0	1	0	0
INPP4A	3631	broad.mit.edu	37	2	99169312	99169312	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:99169312C>T	uc002syy.3	+	14	1635	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	INPP4A_uc010yvj.1_Silent_p.I414I|INPP4A_uc010yvk.2_Silent_p.I414I|INPP4A_uc002syx.3_Silent_p.I409I|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	414					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCAAGGAGATCATCGCCCAGA	0.512000														11			10		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439597	43439597	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:43439597C>T	uc002ovl.4	-	2	488	c.386G>A	c.(385-387)gGg>gAg	p.G129E	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	130	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				TCCTCCAGTCCCATCACCTCG	0.493000														319			6		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115624483	115624483	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:115624483G>A	uc003vhj.2	-	1	266	c.13C>T	c.(13-15)Cat>Tat	p.H5Y	TFEC_uc003vhk.2_Missense_Mutation_p.H5Y|TFEC_uc003vhl.4_Missense_Mutation_p.H5Y|TFEC_uc011kmw.2_Missense_Mutation_p.H95Y	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	5	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ATGATCTGATGATCAAGGGTC	0.478000														121			10		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307144	162307144	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:162307144G>A	uc003iqh.3	-	15	2735	c.2299C>T	c.(2299-2301)Ctc>Ttc	p.L767F	FSTL5_uc003iqi.3_Missense_Mutation_p.L766F|FSTL5_uc010iqv.3_Missense_Mutation_p.L757F	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	767						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCCACAAAGAGCACATCAGTT	0.433000														46			29		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34049299	34049299	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:34049299G>A	uc001bxm.1	-	46	7360	c.7183C>T	c.(7183-7185)Ctc>Ttc	p.L2395F	CSMD2_uc001bxn.1_Missense_Mutation_p.L2397F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2397	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCACTGTGAGGGAGATGTTA	0.507000														94			21		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791323	51791323	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:51791323G>A	uc010ufy.2	-	17	4323	c.4098C>T	c.(4096-4098)gcC>gcT	p.A1366A	DMXL2_uc002abf.3_Silent_p.A1366A|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1366						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GAGAGAGAATGGCTTTAGCCC	0.408000														129			9		0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58314181	58314181	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:58314181C>T	uc002enf.3	-	6	1530	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	PRSS54_uc002eng.3_Missense_Mutation_p.E379K|PRSS54_uc010vie.2_Missense_Mutation_p.E280K|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	379					proteolysis	extracellular region	serine-type endopeptidase activity	p.E379K(2)|p.P378P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGATTTCTTCGGGCTGATAC	0.473000														27			7		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186015882	186015882	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:186015882C>T	uc003fqa.3	-	3	818	c.281G>A	c.(280-282)gGa>gAa	p.G94E	DGKG_uc003fqb.3_Missense_Mutation_p.G94E|DGKG_uc003fqc.3_Missense_Mutation_p.G94E|DGKG_uc011brx.2_Missense_Mutation_p.G94E	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	94					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GTTGCTGGCTCCCTCCGTCGG	0.617000														57			30		0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121586293	121586293	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:121586293C>T	uc001leo.3	+	19	2616	c.2400C>T	c.(2398-2400)ctC>ctT	p.L800L	INPP5F_uc001lep.3_Silent_p.L190L	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	800							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTGGCAACCTCCGAAAGCTAG	0.323000														35			21		0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43739022	43739022	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:43739022C>T	uc003owh.3	+	0	1077	c.579C>T	c.(577-579)gcC>gcT	p.A193A	VEGFA_uc003owb.3_Silent_p.A13A|VEGFA_uc003owd.3_Silent_p.A193A|VEGFA_uc010jyx.3_Silent_p.A193A|VEGFA_uc003owf.3_Silent_p.A193A|VEGFA_uc003owg.3_Silent_p.A193A|VEGFA_uc003owe.3_Silent_p.A193A|VEGFA_uc021yzu.1_Silent_p.A192A|VEGFA_uc003owj.3_Silent_p.A193A|VEGFA_uc003owi.3_Silent_p.A193A	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	13					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GGAGCCTTGCCTTGCTGCTCT	0.706000														33			41		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27228299	27228299	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:27228299G>A	uc011lno.2	+	20	3609	c.3167G>A	c.(3166-3168)cGa>cAa	p.R1056Q	TEK_uc003zqi.4_Missense_Mutation_p.R1099Q|TEK_uc011lnp.2_Missense_Mutation_p.R951Q	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	1099	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTAGAGGAGCGAAAGGTAAGT	0.408000														24			11		0	0	1	0	0
ZDHHC16	84287	broad.mit.edu	37	10	99211590	99211590	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:99211590C>T	uc001knj.3	+	2	524	c.158C>T	c.(157-159)tCc>tTc	p.S53F	ZDHHC16_uc001knk.3_Missense_Mutation_p.S53F|ZDHHC16_uc001knl.3_Missense_Mutation_p.S53F|ZDHHC16_uc001knm.3_Missense_Mutation_p.S53F|ZDHHC16_uc001knn.3_Missense_Mutation_p.S53F|ZDHHC16_uc010qow.2_Missense_Mutation_p.S53F	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Homo sapiens zinc finger, DHHC-type containing 16 (ZDHHC16), transcript variant 5, mRNA.	53					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CTCTACAACTCCTTTGGGGGC	0.602000														29			21		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57406584	57406584	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:57406584C>T	uc001cyp.3	-	8	1403	c.1336G>A	c.(1336-1338)Gcg>Acg	p.A446T	C8B_uc010oon.2_Missense_Mutation_p.A384T|C8B_uc010ooo.2_Missense_Mutation_p.A394T	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	446	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.A446A(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						ATCAGGTCCGCCGTCGGCAGC	0.577000														26			25		0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42907175	42907175	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:42907175G>A	uc002otr.3	-	8	2828	c.2551C>T	c.(2551-2553)Cgc>Tgc	p.R851C	AK311181_uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	851					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				ACACTGCGGCGCATCGGCTCT	0.622000														30			8		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698678	187698678	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:187698678G>A	uc002upu.1	-	5	863	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	275					apoptosis		zinc ion binding	p.R275C(4)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGTACCTCACGAAATGTAAAC	0.363000														24			9		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6933619	6933619	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:6933619C>T	uc001qqw.1	+	1	1090	c.555C>T	c.(553-555)ctC>ctT	p.L185L	GPR162_uc010sfn.1_Silent_p.L185L|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	185						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GCTTCAGCCTCTTGCTACTTG	0.622000														75			25		0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33703487	33703487	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:33703487C>T	uc001uuw.3	-	4	1453	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	STARD13_uc001uuu.3_Missense_Mutation_p.E435K|STARD13_uc001uuv.3_Missense_Mutation_p.E325K|STARD13_uc001uux.3_Missense_Mutation_p.E408K|STARD13_uc010abh.1_Missense_Mutation_p.E428K|STARD13_uc021rhz.1_Missense_Mutation_p.E435K|STARD13_uc021ria.1_Missense_Mutation_p.E325K	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	443					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGCCGGGGCTCCCTGGCACCA	0.557000														52			21		0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140245817	140245817	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:140245817G>A	uc004cmp.2	-	12	1533	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	EXD3_uc010ncf.1_Missense_Mutation_p.S126F|EXD3_uc004cmq.1_Non-coding_Transcript	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	446					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CACCAGCCGGGAAAAGGCCTG	0.672000														16			6		0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978701	58978701	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:58978701G>A	uc001nnu.4	-	0	1794	c.1638C>T	c.(1636-1638)tcC>tcT	p.S546S		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	546						integral to membrane		p.I545T(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTAAATCTCTGGATATAGCAG	0.547000														52			11		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388792	4388792	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr11:4388792G>A	uc010qye.2	-	0	825	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGACATGGGAGCCAAATGT	0.453000														31			21		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167805696	167805696	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:167805696G>A	uc001ger.3	-	22	3458	c.3160C>T	c.(3160-3162)Cct>Tct	p.P1054S	ADCY10_uc009wvj.3_5'Flank|ADCY10_uc010plj.2_Missense_Mutation_p.P901S|ADCY10_uc009wvk.3_Missense_Mutation_p.P962S	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1054					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GATTCCAGAGGGATAATGTCT	0.383000														54			9		0	0	1	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48828002	48828002	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:48828002A>T	uc010hki.1	-	3	651	c.410T>A	c.(409-411)aTt>aAt	p.I137N	PRKAR2A_uc003cux.1_Missense_Mutation_p.I137N|PRKAR2A_uc003cuy.1_Missense_Mutation_p.I137N	NM_004157	NP_004148	P13861	KAP2_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, alpha (PRKAR2A), mRNA.	137	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GAAAAGGAGAATATCTTTGCA	0.308000														66			23		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262407	45262407	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:45262407C>T	uc003jok.3	-	7	2314	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	763						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCATTTTTCGGCGTGGAGC	0.652000														48			13		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921501	24921501	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:24921501G>A	uc001ywo.3	+	0	961	c.487G>A	c.(487-489)Gat>Aat	p.D163N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	163					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGTGAAGAAGGATGAGGATCC	0.627000														36			5		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834785	125834785	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:125834785G>A	uc001uhe.1	+	1	848	c.840G>A	c.(838-840)gaG>gaA	p.E280E	TMEM132B_uc021rgl.1_Silent_p.E170E	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	280						integral to membrane		p.D279H(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCTTGGACGAGAATGTGGTCA	0.562000														158			6		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36899254	36899254	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:36899254C>T	uc003cgj.3	-	11	2075	c.1827G>A	c.(1825-1827)agG>agA	p.R609R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	609					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						GGCTCCTCCTCCTGTTCTCCA	0.537000														89			43		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688754	26688754	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:26688754C>T	uc003acb.3	+	1	673	c.477C>T	c.(475-477)tcC>tcT	p.S159S	SEZ6L_uc003acd.3_Silent_p.S159S|SEZ6L_uc011akd.2_Silent_p.S159S|SEZ6L_uc003ace.3_Silent_p.S159S|SEZ6L_uc011akc.2_Silent_p.S159S|SEZ6L_uc003acc.3_Silent_p.S159S|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	159						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCCTCTCCTCCTCCACGGAGA	0.672000														86			17		0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31331242	31331242	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:31331242G>A	uc003aje.1	-	18	2983	c.1619C>T	c.(1618-1620)tCc>tTc	p.S540F		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	602							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CACCTCAGTGGAAGGTCTGGT	0.512000														3			7		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33491828	33491828	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:33491828G>A	uc001iwx.4	-	10	2378	c.1855C>T	c.(1855-1857)Cag>Tag	p.Q619*	NRP1_uc001iwv.4_Nonsense_Mutation_p.Q619*|NRP1_uc001iwy.4_Intron|NRP1_uc009xlz.3_Intron|NRP1_uc001iww.4_Intron|NRP1_uc001iwz.2_Nonsense_Mutation_p.Q619*|NRP1_uc001ixa.2_Intron|NRP1_uc001ixb.2_Nonsense_Mutation_p.Q619*	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	619					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCTGTGAGCTGGAAGTCATCA	0.522000														28			19		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766120	77766120	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:77766120C>T	uc003yau.2	+	9	7350	c.6963C>T	c.(6961-6963)ttC>ttT	p.F2321F	ZFHX4_uc003yaw.1_Silent_p.F2276F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2276						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)			ATGTGGTTTTCCCCAGGATCT	0.393000										HNSCC(33;0.089)				53			30		0	0	1	0	0
SPTSSB	165679	broad.mit.edu	37	3	161064020	161064020	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:161064020C>T	uc003fee.3	-	2	866	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	SPTSSB_uc021xgx.1_Missense_Mutation_p.R31Q	NM_001040100	NP_001035189	Q8NFR3	SSPTB_HUMAN	Homo sapiens serine palmitoyltransferase, small subunit B (SPTSSB), mRNA.	31					sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding										AAACATAGATCGCTCCCAGGG	0.428000														40			18		0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6098690	6098690	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:6098690G>A	uc003spp.3	-	0	171	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	EIF2AK1_uc003spq.3_Missense_Mutation_p.R9C|EIF2AK1_uc011jwm.1_5'UTR	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA.	9					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TCGCGCTTGCGGACCCCGGAG	0.756000														4			3		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716881	222716881	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:222716881C>T	uc001hnh.1	-	1	1030	c.972G>A	c.(970-972)gaG>gaA	p.E324E		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	324					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCTCTCACCTCTCTGATTTCA	0.443000														482			59		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26761387	26761387	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:26761387C>T	uc003acb.3	+	12	2845	c.2649C>T	c.(2647-2649)taC>taT	p.Y883Y	SEZ6L_uc003acd.3_Silent_p.Y819Y|SEZ6L_uc011akd.2_Silent_p.Y883Y|SEZ6L_uc003ace.3_Intron|SEZ6L_uc011akc.2_Silent_p.Y883Y|SEZ6L_uc003acc.3_Silent_p.Y883Y|SEZ6L_uc003acf.1_Silent_p.Y656Y|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	883	Sushi 5.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AAAATGGATACCAAATCCTGT	0.532000														152			51		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580516	7580516	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:7580516C>T	uc003mxp.1	+	22	4372	c.4093C>T	c.(4093-4095)Cag>Tag	p.Q1365*	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1365	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTTAAAAAATCAGTTTGAGAC	0.458000														49			50		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33954745	33954745	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:33954745C>T	uc001bxj.4	+	3	802	c.635C>T	c.(634-636)cCa>cTa	p.P212L	ZSCAN20_uc001bxk.2_Intron|ZSCAN20_uc009vui.3_Missense_Mutation_p.P212L	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	212					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P212L(4)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTACTCTCCCAAAGATGGGG	0.517000														16			6		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704146	56704146	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:56704146G>A	uc010ygh.2	-	0	276	c.276C>T	c.(274-276)ttC>ttT	p.F92F		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	92	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGGAGATCATGAACTGCTCCA	0.552000														25			10		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38530743	38530743	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:38530743C>T	uc010ive.1	-	1	339	c.7G>A	c.(7-9)Gat>Aat	p.D3N	LIFR_uc003jli.2_Missense_Mutation_p.D3N	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	3					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACGTAAATATCCATCATCTGT	0.408000			T	PLAG1	salivary adenoma									36			19		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124044942	124044942	+	Missense_Mutation	SNP	A	T	T	rs142370141		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:124044942A>T	uc003ehg.3	+	6	1329	c.1202A>T	c.(1201-1203)aAg>aTg	p.K401M	KALRN_uc010hrv.1_Missense_Mutation_p.K401M|KALRN_uc003ehf.1_Missense_Mutation_p.K401M|KALRN_uc011bjy.1_Missense_Mutation_p.K401M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	401					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGGAGTGGAAGAGCTTCGCT	0.572000														62			19		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53217736	53217736	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:53217736C>T	uc001sbb.3	-	5	1114	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	KRT79_uc001sba.3_Missense_Mutation_p.E132K	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	361	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCAGCAATCTCGTTCTTGGTG	0.602000														18			21		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133235967	133235967	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:133235967G>A	uc001uks.1	-	25	3233	c.3189C>T	c.(3187-3189)ttC>ttT	p.F1063F	POLE_uc001ukr.1_5'Flank|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.F1036F	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1063					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGTCTCCCAGGAACTCGGCCA	0.602000								DNA polymerases (catalytic subunits)						27			4		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32072297	32072297	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:32072297C>T	uc003jhl.3	+	16	2987	c.2599C>T	c.(2599-2601)Cag>Tag	p.Q867*	PDZD2_uc003jhm.3_Nonsense_Mutation_p.Q867*|PDZD2_uc011cnx.1_Nonsense_Mutation_p.Q693*	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	867					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAACTCTCCCAGTACTTTGC	0.507000														67			17		0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50387813	50387813	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:50387813C>T	uc002pqo.3	+	11	1640	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	TBC1D17_uc010ybg.2_Silent_p.L414L|TBC1D17_uc002pqp.3_Silent_p.L98L|TBC1D17_uc002pqr.3_Silent_p.L98L	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	447	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCATGGAGCTCGTGGTGAGGC	0.587000														53			23		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149482603	149482603	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:149482603G>A	uc010lpk.3	+	21	3019	c.3019G>A	c.(3019-3021)Ggc>Agc	p.G1007S	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1007					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCACTGCACAGGCCAGCGGCG	0.662000														6			11		0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45733536	45733536	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:45733536C>T	uc002zek.3	+	8	1151	c.750C>T	c.(748-750)ttC>ttT	p.F250F	PFKL_uc002zel.3_Silent_p.F203F			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	203					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		AGAGGACCTTCGTGCTGGAAG	0.672000														14			13		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008498	11008498	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:11008498C>T	uc010oao.2	-	11	1694	c.1694G>A	c.(1693-1695)gGc>gAc	p.G565D	C1orf127_uc001ars.2_Missense_Mutation_p.G400D|C1orf127_uc001arr.2_Missense_Mutation_p.G408D	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	416										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GCTTGACAAGCCTCTCAGCAG	0.632000														37			17		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080748	148080748	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:148080748G>A	uc003weu.2	+	21	3999	c.3483G>A	c.(3481-3483)ggG>ggA	p.G1161G	CNTNAP2_uc003wev.2_5'UTR	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1161	Laminin G-like 4.				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)			TAGAAACAGGGAAAATTGACC	0.433000										HNSCC(39;0.1)				41			19		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2886862	2886862	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:2886862C>T	uc022aqr.1	-	50	8224	c.7834G>A	c.(7834-7836)Gat>Aat	p.D2612N	CSMD1_uc011kwj.2_Missense_Mutation_p.D1942N|CSMD1_uc010lrg.3_Missense_Mutation_p.D681N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2613	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCCTCTCATCTCCTATGTTC	0.527000														18			9		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39874463	39874463	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:39874463G>A	uc003opb.3	-	9	1719	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	MOCS1_uc003opa.3_3'UTR|MOCS1_uc003opd.3_3'UTR|MOCS1_uc003ope.3_Silent_p.L424L	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	527	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTCCTTTCTTGAGCTGGTTCT	0.627000														57			21		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791004	51791004	+	Missense_Mutation	SNP	G	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:51791004G>C	uc010ufy.2	-	17	4642	c.4417C>G	c.(4417-4419)Caa>Gaa	p.Q1473E	DMXL2_uc002abf.3_Missense_Mutation_p.Q1473E|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1473						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCTGGATTTGAAACAGCTCT	0.353000														141			10		0	0	1	0	0
C2orf51	200523	broad.mit.edu	37	2	88828792	88828792	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:88828792G>A	uc002stb.2	+	3	485	c.343G>A	c.(343-345)Gat>Aat	p.D115N		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.	115						nucleus				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						AGCTTCCCACGATCTGCACCT	0.602000														90			20		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77246593	77246593	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:77246593C>T	uc010xfg.2	+	8	2891	c.2438C>T	c.(2437-2439)tCg>tTg	p.S813L	NFATC1_uc002lnd.3_Missense_Mutation_p.S813L|NFATC1_uc002lne.3_Missense_Mutation_p.S341L|NFATC1_uc010xfh.2_Intron|NFATC1_uc010xfj.2_Missense_Mutation_p.S341L|NFATC1_uc002lnf.3_Missense_Mutation_p.S800L|NFATC1_uc002lng.3_Missense_Mutation_p.S800L|NFATC1_uc010xfk.2_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	813	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CACCCCGGCTCGCCCGGGCAG	0.746000														19			5		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23810687	23810687	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:23810687C>T	uc003sws.4	+	13	1844	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	STK31_uc003swt.4_Missense_Mutation_p.H570Y|STK31_uc011jze.2_Missense_Mutation_p.H593Y|STK31_uc010kuq.3_Missense_Mutation_p.H570Y	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	593							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCAAAAGATTCATTCAGAGGA	0.338000														58			30		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088178	9088178	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:9088178C>T	uc002mkp.3	-	0	3841	c.3637G>A	c.(3637-3639)Gga>Aga	p.G1213R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1213	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						GTGCTTTTTCCTATGGCACCA	0.493000														192			43		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197122612	197122612	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:197122612G>A	uc002utm.1	-	17	3537	c.3354C>T	c.(3352-3354)atC>atT	p.I1118I	HECW2_uc002utl.1_Silent_p.I762I|BC062769_uc002utn.1_5'Flank	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1118					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTTCAGTTCGGATAAATTGGA	0.398000														26			17		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060509	46060509	+	Silent	SNP	C	T	T	rs139933358		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:46060509C>T	uc003gxb.3	-	5	908	c.756G>A	c.(754-756)acG>acA	p.T252T		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	252					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.T252M(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TACCAGAGATCGTGTGAGTGA	0.328000														32			14		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027662	161027662	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:161027662G>A	uc003qtl.3	-	17	2752	c.2632C>T	c.(2632-2634)Cca>Tca	p.P878S		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3386	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACAGGATCTGGATTCCTGCAG	0.522000														172			33		0	0	1	0	0
DHFRL1	200895	broad.mit.edu	37	3	93780086	93780086	+	Silent	SNP	A	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:93780086A>T	uc003dri.3	-	1	607	c.270T>A	c.(268-270)ctT>ctA	p.L90L	DHFRL1_uc003drj.3_Silent_p.L90L|DHFRL1_uc021xbk.1_Silent_p.L90L|NSUN3_uc003drk.3_5'Flank|NSUN3_uc003drl.1_5'Flank	NM_176815	NP_789785	Q86XF0	DYRL1_HUMAN	Homo sapiens dihydrofolate reductase-like 1 (DHFRL1), transcript variant 2, mRNA.	90	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		NADP binding|dihydrofolate reductase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						AACTTCTGGCAAGAAAATGAG	0.393000														82			28		0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78417063	78417063	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:78417063C>T	uc003kfu.4	+	4	605	c.500C>T	c.(499-501)gCt>gTt	p.A167V	BHMT_uc011cti.2_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	167	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GTTGAAGAAGCTGTGTGGGCA	0.443000														125			43		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7476893	7476893	+	Missense_Mutation	SNP	A	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:7476893A>C	uc001qsx.1	+	9	1333	c.1333A>C	c.(1333-1335)Acg>Ccg	p.T445P		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	445					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.A444S(1)		endometrium(6)|kidney(1)|lung(14)	21						AACTGCTGCCACGATAAGAGG	0.453000														10			12		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236736124	236736124	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:236736124G>A	uc001hyd.2	-	24	3616	c.3464C>T	c.(3463-3465)tCc>tTc	p.S1155F	HEATR1_uc009xgh.2_Missense_Mutation_p.S317F	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1155					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCATTAACGGAAATCTGAAA	0.368000														136			5		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572572	140572572	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:140572572G>A	uc003lix.3	+	0	621	c.447G>A	c.(445-447)ggG>ggA	p.G149G		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	149	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCTGAAGGGACAGCATTTA	0.408000														51			45		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45750237	45750237	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr7:45750237C>T	uc003tne.4	+	18	3061	c.3043C>T	c.(3043-3045)Cag>Tag	p.Q1015*		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	1015					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CACAGGGGTCCAGGGCAGAAT	0.587000														35			14		0	0	1	0	0
AGAP4	119016	broad.mit.edu	37	10	46321432	46321432	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:46321432G>A	uc001jcx.4	-	6	2049	c.1923C>T	c.(1921-1923)gcC>gcT	p.A641A	AGAP4_uc021pps.1_Silent_p.A641A|AGAP4_uc010qfl.2_Silent_p.A664A|AGAP4_uc001jcy.4_Silent_p.A556A|DQ588224_uc010qfm.1_5'Flank	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA.	641					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						AGGCCTGCCGGGCGTAGGTCA	0.607000														73			22		0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61287908	61287908	+	Silent	SNP	C	G	G			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:61287908C>G	uc002ydb.1	+	1	307	c.102C>G	c.(100-102)tcC>tcG	p.S34S		NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	34					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GGAGGGCATCCCCGGGCACAC	0.687000														7			6		0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32239170	32239170	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:32239170C>T	uc003jhq.3	-	12	1451	c.1281G>A	c.(1279-1281)tgG>tgA	p.W427*	MTMR12_uc010iuk.3_Nonsense_Mutation_p.W427*|MTMR12_uc010iul.3_Nonsense_Mutation_p.W427*	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	427	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CACCCATGACCCACTCCTTTT	0.537000														19			14		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72828274	72828274	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:72828274G>A	uc002fck.3	-	8	8980	c.8307C>T	c.(8305-8307)agC>agT	p.S2769S	ZFHX3_uc002fcl.3_Silent_p.S1855S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2769					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTGGGAAAAGCTAGTTCCGT	0.493000														40			17		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15296429	15296429	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:15296429G>A	uc002nan.3	-	12	2089	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S	NOTCH3_uc002nao.1_Silent_p.S671S	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	671	EGF-like 17; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATCCACACAGGAACCTCCCT	0.607000														55			28		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116975592	116975592	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:116975592G>A	uc001lcg.3	+	8	1872	c.1486G>A	c.(1486-1488)Gga>Aga	p.G496R		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	496						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GAACAAATATGGATTGGTTGA	0.318000														16			14		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46299167	46299167	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:46299167T>C	uc002pdm.3	-	5	2285	c.2114A>G	c.(2113-2115)gAg>gGg	p.E705G	RSPH6A_uc002pdl.3_Missense_Mutation_p.E441G	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ctcctcgccctcctcctcctc	0.592000														117			4		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645563	45645563	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:45645563G>A	uc003jok.3	-	1	598	c.573C>T	c.(571-573)atC>atT	p.I191I		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	191						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TAAAATTCATGATCAGGTCCA	0.378000														36			21		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898819	37898819	+	Splice_Site	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:37898819G>A	uc002hsr.3	+	3	431	c.156_splice	c.e3-1	p.R52_splice	GRB7_uc002hss.3_Splice_Site_p.R52_splice|GRB7_uc021twu.1_Splice_Site_p.R75_splice|GRB7_uc010cwc.3_Splice_Site_p.R52_splice|GRB7_uc002hst.3_Splice_Site_p.R52_splice	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	52					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTTGCCACAGGAAACTTCGAG	0.607000														95			23		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13356975	13356975	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr8:13356975T>C	uc003wwm.2	-	1	1050	c.606A>G	c.(604-606)atA>atG	p.I202M	DLC1_uc003wwn.3_Missense_Mutation_p.I202M|DLC1_uc011kxy.2_Missense_Mutation_p.I202M	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	202					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GTGCATCTTTTATTTCACTTA	0.368000														86			40		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34276436	34276436	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:34276436G>A	uc001bxm.1	-	9	1531	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	CSMD2_uc001bxn.1_Missense_Mutation_p.P412S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	412	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGCCCGAGGGGCCTCGAAGG	0.537000														86			32		0	0	1	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744370	31744370	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr21:31744370C>T	uc002ynz.4	-	0	188	c.162G>A	c.(160-162)agG>agA	p.R54R		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	Homo sapiens keratin associated protein 13-2 (KRTAP13-2), nuclear gene encoding mitochondrial protein, mRNA.	54	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CCTGACAGCCCCTATAGAGAG	0.612000														50			26		0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147227162	147227162	+	Splice_Site	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:147227162C>T	uc010ioz.2	-	7	726	c.472_splice	c.e7-1	p.L158_splice	SLC10A7_uc003ikr.2_Splice_Site_p.L158_splice|SLC10A7_uc010ipa.2_Splice_Site_p.L145_splice|SLC10A7_uc003iks.2_Splice_Site	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 7 (SLC10A7), transcript variant 2, mRNA.	158						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					ATGAACCAAGCTGTAAAACAA	0.348000														17			8		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701141	192701141	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:192701141G>A	uc002utb.3	-	1	1141	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	262						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTACAGATACGATCTTTGTCC	0.418000														131			71		0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42422929	42422929	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:42422929G>A	uc003bbt.3	+	5	768	c.674G>A	c.(673-675)gGa>gAa	p.G225E	WBP2NL_uc011apk.2_Missense_Mutation_p.G97E|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA.	225	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CTTGGATACGGAGCCCCACCT	0.597000														773			145		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759677	6759677	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:6759677G>A	uc002wmu.1	+	2	1917	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	378					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	TGACGAGAATGAAAAGGTTGT	0.383000														31			15		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156883785	156883785	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr1:156883785G>A	uc001fqj.1	+	21	2971	c.2855G>A	c.(2854-2856)gGa>gAa	p.G952E	PEAR1_uc001fqk.1_Missense_Mutation_p.G577E	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	952	Pro-rich.					integral to membrane		p.G952E(2)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCCCTCAGGATCTCCCCCC	0.662000														18			10		0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137488356	137488356	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:137488356C>T	uc003lcf.1	-	20	2726	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N		NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	891					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGACTGGAGTCCCATGAGCTG	0.512000														386			8		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6093246	6093246	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr20:6093246G>A	uc002wmr.3	-	3	1199	c.410C>T	c.(409-411)tCc>tTc	p.S137F	FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Missense_Mutation_p.S137F	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	137	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTTTAACAAGGAAAGCTCTTC	0.299000														31			10		0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26465589	26465589	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:26465589C>T	uc003nib.2	+	4	1137	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	BTN2A1_uc021yni.1_Silent_p.L297L|BTN2A1_uc003nic.2_Silent_p.L297L|BTN2A1_uc011dko.2_Silent_p.L236L	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	297					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TCTAAAGGAACTGGAGAAAGA	0.428000														89			27		0	0	1	0	0
WDR82	80335	broad.mit.edu	37	3	52292613	52292614	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:52292613_52292614GG>AA	uc003ddl.2	-	7	1132_1133	c.850_851CC>TT	c.(850-852)ccg>TTg	p.P284L	WDR82_uc003ddk.2_Missense_Mutation_p.P209L	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	Homo sapiens WD repeat domain 82 (WDR82), mRNA.	284					histone H3-K4 methylation	PTW/PP1 phosphatase complex|Set1C/COMPASS complex|chromatin	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		ACAGGTAATCGGGCCTGTGTGT	0.465000														88			40		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119501481	119501481	+	Missense_Mutation	SNP	A	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:119501481A>T	uc003pym.1	-	11	2273	c.1831T>A	c.(1831-1833)Ttg>Atg	p.L611M		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	611					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACCTACTTCAATGTCTCTGCC	0.388000														21			18		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129861391	129861391	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:129861391G>A	uc009yat.3	+	10	1120	c.703G>A	c.(703-705)Gag>Aag	p.E235K	PTPRE_uc001lkb.3_Missense_Mutation_p.E224K|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Missense_Mutation_p.E224K|PTPRE_uc001lkd.3_Missense_Mutation_p.E166K|PTPRE_uc010quq.1_Missense_Mutation_p.E125K	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	224	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AATGGTCTGGGAGCAAAAGTC	0.488000														18			6		0	0	1	0	0
FKBP8	23770	broad.mit.edu	37	19	18652761	18652761	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:18652761G>A	uc002njk.1	-	1	133	c.20C>T	c.(19-21)cCc>cTc	p.P7L	FKBP8_uc010xqi.1_Missense_Mutation_p.P36L|FKBP8_uc002njj.1_Missense_Mutation_p.P7L|FKBP8_uc021uqp.1_Missense_Mutation_p.P7L	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	7					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GGGCTCAGAGGGTTCAGCACA	0.627000														27			5		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137025	126137025	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:126137025G>A	uc001uhe.1	+	7	1946	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	TMEM132B_uc001uhf.1_Silent_p.K158K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	646						integral to membrane		p.K646Q(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGGCTGAGAAGACGGTGATTG	0.557000														21			19		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52406053	52406053	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:52406053C>T	uc011bef.2	+	41	6878	c.6617C>T	c.(6616-6618)aCc>aTc	p.T2206I		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2206	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCATGGACACCGTGCAGATG	0.562000														71			31		0	0	1	0	0
FRRS1L	23732	broad.mit.edu	37	9	111903728	111903728	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr9:111903728C>T	uc004bdw.1	-	3	757	c.757G>A	c.(757-759)Gtc>Atc	p.V253I		NM_014334	NP_055149	Q9P0K9	CI004_HUMAN	Homo sapiens chromosome 9 open reading frame 4 (C9orf4), mRNA.	253	DOMON.					integral to membrane											CTGCAGGTGACGCGATTGTTC	0.458000														86			16		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1730378	1730378	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:1730378C>T	uc003gdo.3	+	3	1404	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S	TACC3_uc010ibz.3_Missense_Mutation_p.P417S|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	417						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAACTTCATCCCGTTCGGAGG	0.622000														75			40		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	30143027	30143027	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:30143027G>A	uc002rmy.3	-	0	1451	c.499C>T	c.(499-501)Cag>Tag	p.Q167*		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	167					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGATTGAACTGGAGCAGCCCC	0.657000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					47			8		0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580618	580618	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:580618G>A	uc002kko.1	+	0	250	c.210G>A	c.(208-210)aaG>aaA	p.K70K		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	70	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AAGAGATGAAGAAAATGATCT	0.557000														15			12		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923366	24923366	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr15:24923366C>T	uc001ywo.3	+	0	2826	c.2352C>T	c.(2350-2352)acC>acT	p.T784T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	784					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGCAGAAAACCTCTCTCCCCA	0.547000														140			45		0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48248379	48248379	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr18:48248379G>A	uc002lev.3	+	3	1763	c.763G>A	c.(763-765)Gag>Aag	p.E255K	MAPK4_uc010xdm.2_Missense_Mutation_p.E44K|MAPK4_uc010doz.3_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	255	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGACAAGGACGAGCTGCTCAG	0.577000														32			5		0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20797527	20797527	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr13:20797527G>A	uc001und.4	-	2	480	c.93C>T	c.(91-93)ttC>ttT	p.F31F	GJB6_uc001umz.4_Silent_p.F31F|GJB6_uc001unb.4_Silent_p.F31F|GJB6_uc001unc.4_Silent_p.F31F|GJB6_uc001una.4_Silent_p.F31F|GJB6_uc021rhb.1_Silent_p.F31F	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	31					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TCATGACTCGGAAAATAAAGA	0.542000														84			42		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657008	40657008	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr2:40657008G>A	uc002rrx.3	-	0	437	c.413C>T	c.(412-414)aCc>aTc	p.T138I	SLC8A1_uc002rry.3_Missense_Mutation_p.T138I|SLC8A1_uc002rsb.2_Missense_Mutation_p.T138I|SLC8A1_uc002rrz.3_Missense_Mutation_p.T138I|SLC8A1_uc002rsa.3_Missense_Mutation_p.T138I|SLC8A1_uc002rsd.4_Missense_Mutation_p.T138I|SLC8A1_uc010fan.1_Missense_Mutation_p.T138I|SLC8A1_uc002rsc.1_Missense_Mutation_p.T138I	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	138					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGCCATCAAGGTCAGGTTAGA	0.453000														55			31		0	0	1	0	0
NARFL	64428	broad.mit.edu	37	16	787312	787312	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:787312C>T	uc002cjr.3	-	2	192	c.180G>A	c.(178-180)agG>agA	p.R60R	NARFL_uc002cjp.3_5'UTR|NARFL_uc002cjq.3_5'UTR|NARFL_uc021tab.1_Non-coding_Transcript|NARFL_uc010brc.1_Silent_p.R60R|NARFL_uc010uur.1_Silent_p.R60R	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA.	60					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				CCTTCTCCAGCCTCCGGGTCC	0.627000														92			17		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7633767	7633767	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:7633767C>T	uc001qsz.3	-	14	3461	c.3333G>A	c.(3331-3333)atG>atA	p.M1111I	CD163_uc001qta.3_Missense_Mutation_p.M1111I|CD163_uc009zfw.2_Missense_Mutation_p.M1144I	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1111					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						CTGAGGAATTCATTAGGTCCA	0.448000														58			25		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991267	35991267	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr5:35991267G>A	uc003jjv.2	-	0	269	c.76C>T	c.(76-78)Ctg>Ttg	p.L26L	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.L26L|UGT3A1_uc011cor.2_Silent_p.L26L|UGT3A1_uc003jjy.2_Intron	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	26						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)			GATATTGTCAGGATTTTGGCA	0.592000														82			50		0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170102423	170102423	+	Silent	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr3:170102423C>T	uc003fgu.3	+	3	2011	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	SKIL_uc011bps.2_Silent_p.S413S|SKIL_uc003fgv.3_Intron|SKIL_uc003fgw.3_Silent_p.S433S	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	433					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAAGTAAGTCCATATCAAGAC	0.403000														84			21		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7671530	7671530	+	Missense_Mutation	SNP	T	C	C			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr17:7671530T>C	uc002giu.1	+	22	3900	c.3886T>C	c.(3886-3888)Ttc>Ctc	p.F1296L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1296	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATAGAGCAGTTCAAGAGGAC	0.557000														86			61		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46230641	46230641	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:46230641C>T	uc001ros.1	+	7	890	c.890C>T	c.(889-891)tCc>tTc	p.S297F	ARID2_uc001ror.3_Missense_Mutation_p.S297F|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAAATCTTTCCTTTGAGGAG	0.398000			"""N, S, F"""		hepatocellular carcinoma									55			16		0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58983452	58983452	+	Silent	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr19:58983452G>A	uc002qsw.2	+	3	1738	c.1593G>A	c.(1591-1593)gcG>gcA	p.A531A		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAGAAGGTGCGCCAGCGAAGG	0.677000														66			4		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757505	116757505	+	Missense_Mutation	SNP	G	A	A			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr6:116757505G>A	uc011ebg.2	+	5	2030	c.1931G>A	c.(1930-1932)aGc>aAc	p.S644N	DSE_uc003pws.3_Missense_Mutation_p.S625N|DSE_uc003pwt.3_Missense_Mutation_p.S625N|DSE_uc003pwu.3_Missense_Mutation_p.S292N	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	625					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ACTGGCTACAGCGAGAAAGCA	0.493000														52			32		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69100279	69100279	+	Missense_Mutation	SNP	C	T	T			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:69100279C>T	uc003hdw.4	-	4	507	c.371G>A	c.(370-372)gGa>gAa	p.G124E		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	124	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CATGCTAACTCCTTCTGCTGG	0.388000														48			18		0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2901108	2901108	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr4:2901108delG	uc003gfq.3	+	8	1295	c.1107delG	c.(1105-1107)aagfs	p.K369fs	ADD1_uc010ico.1_Frame_Shift_Del_p.K369fs|ADD1_uc003gfo.3_Frame_Shift_Del_p.K369fs|ADD1_uc003gfp.3_Frame_Shift_Del_p.K369fs|ADD1_uc003gfr.3_Frame_Shift_Del_p.K369fs|ADD1_uc003gfs.3_Frame_Shift_Del_p.K369fs|ADD1_uc003gft.3_Frame_Shift_Del_p.K369fs|ADD1_uc003gfu.3_3'UTR	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	369					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGCCTCCCAAGTGGCAGATTG	0.507													---	37	---	---	13	---					
SIRT1	23411	broad.mit.edu	37	10	69644881	69644883	+	In_Frame_Del	DEL	GGC	-	-	rs36062014		TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr10:69644881_69644883delGGC	uc001jnd.3	+	0	455_457	c.402_404delGGC	c.(400-405)gaggcg>gag	p.A139del	SIRT1_uc010qis.2_5'Flank|SIRT1_uc009xpp.3_5'Flank	NM_012238	NP_001135970	Q96EB6	SIRT1_HUMAN	Homo sapiens sirtuin 1 (SIRT1), transcript variant 1, mRNA.	139	Interaction with HIST1H1E.				DNA repair|DNA replication|apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of DNA repair|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|rRNA processing|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	PML body|chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|rDNA heterochromatin	HLH domain binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|bHLH transcription factor binding|histone binding|identical protein binding|mitogen-activated protein kinase binding|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						aggaggaagaggcggcggcggcg	0.700													---	4	---	---	2	---					
PHC1	1911	broad.mit.edu	37	12	9085271	9085272	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:9085271_9085272delGT	uc001qvd.3	+	7	1374_1375	c.1218_1219delGT	c.(1216-1221)cagttcfs	p.Q406fs	PHC1_uc001qvc.1_Frame_Shift_Del_p.Q361fs|PHC1_uc010sgn.1_Frame_Shift_Del_p.Q406fs|PHC1_uc001qve.3_Frame_Shift_Del_p.Q406fs	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	406					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACCAGCAGCAGTTCCAGCACCG	0.574													---	102	---	---	21	---					
SFSWAP	6433	broad.mit.edu	37	12	132211599	132211599	+	Splice_Site	DEL	T	-	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr12:132211599delT	uc001uja.1	+	6	1085	c.945_splice	c.e6+2	p.K315_splice	SFSWAP_uc010tbn.1_Splice_Site_p.K315_splice|SFSWAP_uc001ujb.1_Splice_Site_p.K108_splice|SFSWAP_uc001uiz.1_Splice_Site_p.K189_splice	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	315					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTGATGAAGGTTTTTATCTCA	0.368													---	16	---	---	8	---					
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	-	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr16:20370700_20370702delCCA	uc002dhc.1	-	11	1917_1919	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	565					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478													---	183	---	---	7	---					
TCF20	6942	broad.mit.edu	37	22	42605990	42605992	+	In_Frame_Del	DEL	CTG	-	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:42605990_42605992delCTG	uc003bcj.1	-	0	5454_5456	c.5320_5322delCAG	c.(5320-5322)cagdel	p.Q1774del	TCF20_uc003bck.1_In_Frame_Del_p.Q1774del	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTGCTCCTTCTGCTGCTGCTGC	0.601													---	561	---	---	7	---					
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	-	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chr22:42610573_42610575delAGG	uc003bcj.1	-	0	871_873	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_uc003bck.1_In_Frame_Del_p.S246del	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	246	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507													---	366	---	---	7	---					
ZFX	7543	broad.mit.edu	37	X	24228894	24228894	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BF-A5EQ-01A-21D-A27K-08	TCGA-BF-A5EQ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4330b5ee-2768-4a70-bd3d-fb56621c6789	f02eb59b-4658-445e-a886-a9b8e40d630c	g.chrX:24228894delT	uc011mjv.2	+	9	2185	c.1936delT	c.(1936-1938)tgtfs	p.C646fs	ZFX_uc004dbd.2_Frame_Shift_Del_p.C607fs|ZFX_uc004dbf.3_Frame_Shift_Del_p.C607fs|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Frame_Shift_Del_p.C607fs|ZFX_uc010nfx.2_Frame_Shift_Del_p.C378fs|ZFX_uc010nfz.3_Frame_Shift_Del_p.C263fs	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GCCATTCAAGTGTGACATTTG	0.433													---	17	---	---	23	---					
