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
SLC23A1	9963	broad.mit.edu	37	5	138714356	138714356	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:138714356C>T	uc003leg.3	-	9	1200	c.1103G>A	c.(1102-1104)gGc>gAc	p.G368D	SLC23A1_uc003leh.3_Missense_Mutation_p.G364D	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	364					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	L-ascorbate:sodium symporter activity|dehydroascorbic acid transporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GCAGCAAATGCCTTCGGTGAA	0.592000														2			6		0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76118725	76118725	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:76118725G>A	uc002juj.1	-	8	1314	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	TMC6_uc002jui.1_Silent_p.A35A|TMC6_uc010dhf.1_Silent_p.A229A|TMC6_uc002juk.2_Silent_p.A396A|TMC6_uc010dhg.1_Silent_p.A396A|TMC6_uc002jul.1_Silent_p.A396A|TMC6_uc002jum.4_Silent_p.A187A|TMC6_uc002jun.4_Silent_p.A396A|TMC6_uc002juo.2_Silent_p.A169A	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	396						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGAGGCGGGAGGCCCGCTTCT	0.662000														13			10		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91801768	91801768	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:91801768C>T	uc002bqv.3	+	5	1793	c.902C>T	c.(901-903)cCa>cTa	p.P301L	SV2B_uc002bqt.3_Missense_Mutation_p.P301L|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.P150L	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	301					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCAGAGAGCCCAAGGTTTCTG	0.552000														33			16		0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5831597	5831597	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:5831597G>A	uc002mdf.1	-	3	1508	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	FUT6_uc021unl.1_Missense_Mutation_p.R328C|FUT6_uc002mdg.1_Missense_Mutation_p.R328C|FUT6_uc002mdh.1_Missense_Mutation_p.R328C|FUT6_uc021unm.1_Missense_Mutation_p.R328C	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	328					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CTGAAGGAGCGAGGCCGCAGC	0.632000														13			39		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871120	8871120	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:8871120G>A	uc002qzc.2	-	29	5228	c.5046C>T	c.(5044-5046)acC>acT	p.T1682T	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.T1583T|KIDINS220_uc002qzb.2_Silent_p.T536T	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1682					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCAGAGTCACGGTGCTGGGAG	0.488000														21			22		0	0	1	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874919	117874919	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:117874919G>A	uc003vji.3	+	2	632	c.459G>A	c.(457-459)gcG>gcA	p.A153A		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.	153					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						ATCTTGAAGCGAAAAATAAGG	0.299000														13			9		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825484	196825484	+	Silent	SNP	T	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:196825484T>C	uc002utj.4	-	17	2492	c.2391A>G	c.(2389-2391)gaA>gaG	p.E797E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	797	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAATATCTGCTTCTACTTGGT	0.373000														84			44		0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2881908	2881908	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:2881908C>T	uc002cru.3	+	3	451	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	125						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TCTTTGTCGCCTTCCAAGCTT	0.532000														19			18		0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917301	65917301	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:65917301C>T	uc010ujf.2	+	1	1170	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S	SLC24A1_uc010ujd.1_Missense_Mutation_p.P295S|SLC24A1_uc010uje.1_Missense_Mutation_p.P295S|SLC24A1_uc010ujg.2_Missense_Mutation_p.P295S|SLC24A1_uc010ujh.2_Missense_Mutation_p.P295S	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	295					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTCAGCCCATCCCTGGGGGTT	0.527000														60			46		0	0	1	0	0
OSTBETA	123264	broad.mit.edu	37	15	65343882	65343882	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:65343882C>T	uc002aog.3	+	2	448	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_178859	NP_849190	Q86UW2	OSTB_HUMAN	Homo sapiens organic solute transporter beta (OSTBETA), mRNA.	43						integral to membrane|plasma membrane											CATCCTTGCCCTGGCAGCTGT	0.597000														61			35		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38936095	38936095	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:38936095C>T	uc021wvy.1	-	14	2963	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	SCN11A_uc010hhn.1_Missense_Mutation_p.E38K	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	922					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCATCTTCCTCCTCCGCAAGT	0.498000														73			45		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769071	57769071	+	Silent	SNP	T	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:57769071T>G	uc002yan.3	+	0	2997	c.2997T>G	c.(2995-2997)ggT>ggG	p.G999G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	999						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)					CCTCCCCAGGTGAGGCGGACA	0.637000														28			8		0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41148137	41148137	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:41148137C>T	uc001zna.3	+	8	1417	c.1213C>T	c.(1213-1215)Ccg>Tcg	p.P405S	SPINT1_uc001znb.3_Missense_Mutation_p.P389S|SPINT1_uc001znc.3_Missense_Mutation_p.P389S|SPINT1_uc010ucs.2_Missense_Mutation_p.P396S	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	405	BPTI/Kunitz inhibitor 2.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	p.P405Q(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGAGAGCATCCCGCGCTGGTA	0.592000														57			44		0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151774170	151774170	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:151774170C>T	uc001ezf.1	-	1	1201	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	LINGO4_uc021oyu.1_Silent_p.Q337Q	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	337						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTCTAGTGTCTGAAGGGCGT	0.582000														13			65		0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76827314	76827314	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:76827314G>A	uc009yup.3	+	7	1241	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	CAPN5_uc001oxx.3_Silent_p.K312K|CAPN5_uc009yuq.3_Silent_p.K348K|CAPN5_uc001oxy.3_Silent_p.K352K	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	312	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AGCGGGAGAAGATGGGTGTGA	0.652000														1			3		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74347548	74347548	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:74347548C>T	uc003hhb.3	+	0	87	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	19					vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGACTGAATCCCTAACCCTG	0.308000														26			17		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354649	10354649	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:10354649C>T	uc002gmn.3	-	27	3970	c.3859G>A	c.(3859-3861)Gaa>Aaa	p.E1287K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1287					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGACCTGATTCTGTGTGTAAA	0.413000														13			23		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776440	38776440	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:38776440C>T	uc003gtj.3	-	3	1410	c.772G>A	c.(772-774)Gac>Aac	p.D258N	TLR10_uc021xnk.1_Missense_Mutation_p.D244N|TLR10_uc003gti.3_Missense_Mutation_p.D258N|TLR10_uc021xnl.1_Missense_Mutation_p.D258N|TLR10_uc003gtk.3_Missense_Mutation_p.D258N|TLR10_uc021xnm.1_Missense_Mutation_p.D258N	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	258					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AGGAAAAGGTCGTCCCAGAGT	0.353000														27			20		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15121771	15121771	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:15121771C>T	uc002nae.2	+	0	233	c.134C>T	c.(133-135)aCc>aTc	p.T45I	SLC1A6_uc010xod.1_5'Flank	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	45					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GAGGCGGTGACCATGTGGCAG	0.697000														3			8		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237176	5237176	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:5237176G>A	uc003jdl.3	+	13	2256	c.2118G>A	c.(2116-2118)gaG>gaA	p.E706E	ADAMTS16_uc003jdk.1_Silent_p.E706E|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	706	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S705*(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CATGCTCGGAGGATAGCCGTA	0.388000														9			16		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49597954	49597954	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:49597954C>T	uc010rhy.2	+	1	545	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	LOC440040_uc009ymb.3_Missense_Mutation_p.H23Y					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		GGACGAAGTTCATGAGAGGAA	0.517000														8			7		0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39760948	39760948	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:39760948A>C	uc001rly.3	-	4	1039	c.619T>G	c.(619-621)Ttg>Gtg	p.L207V	KIF21A_uc001rlx.3_Missense_Mutation_p.L207V|KIF21A_uc001rlz.3_Missense_Mutation_p.L207V|KIF21A_uc010skl.2_Missense_Mutation_p.L207V	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	207	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAAGCACCCAACTTCAAACAC	0.408000														19			14		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698442	96698442	+	Missense_Mutation	SNP	G	A	A	rs150891702		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:96698442G>A	uc001kka.4	+	0	28	c.3G>A	c.(1-3)atG>atA	p.M1I	CYP2C9_uc009xut.3_Missense_Mutation_p.M1I|CYP2C9_uc001kjz.3_Missense_Mutation_p.M1I	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	1					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.M1I(2)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGGCTTCAATGGATTCTCTTG	0.473000														37			81		0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17897484	17897484	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:17897484T>C	uc002rco.3	-	14	1690	c.1394A>G	c.(1393-1395)cAa>cGa	p.Q465R	SMC6_uc010exo.3_Missense_Mutation_p.Q465R|SMC6_uc002rcn.3_Missense_Mutation_p.Q465R|SMC6_uc002rcp.1_Missense_Mutation_p.Q491R|SMC6_uc002rcq.2_Missense_Mutation_p.Q491R	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	465	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCTTTCAGTTGCCTCTGATT	0.358000														56			28		0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11187687	11187687	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:11187687C>T	uc004cup.1	-	8	2620	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.E583K|ARHGAP6_uc004cum.1_Missense_Mutation_p.E380K|ARHGAP6_uc004cun.1_Missense_Mutation_p.E403K|ARHGAP6_uc010neb.1_Missense_Mutation_p.E405K|ARHGAP6_uc011mif.1_Missense_Mutation_p.E380K	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	583	Rho-GAP.				Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCCGTGCTCTCCTCAGCCCGG	0.483000														11			26		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974046	49974046	+	Silent	SNP	C	T	T	rs146933611	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:49974046C>T	uc010rhz.2	+	0	104	c.72C>T	c.(70-72)atC>atT	p.I24I		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCAGAAAATCATATTTGTTG	0.388000														58			35		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884218	228884218	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:228884218A>T	uc002vpq.2	-	6	1399	c.1352T>A	c.(1351-1353)gTc>gAc	p.V451D	SPHKAP_uc002vpp.2_Missense_Mutation_p.V451D|SPHKAP_uc010zlx.1_Missense_Mutation_p.V451D	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	451						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGAACAACGACGATTTTGGG	0.502000														35			19		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15383878	15383878	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:15383878C>A	uc002nar.3	-	1	255	c.33G>T	c.(31-33)ttG>ttT	p.L11F	BRD4_uc002nas.3_Missense_Mutation_p.L11F|BRD4_uc002nat.3_Missense_Mutation_p.L11F|BRD4_uc002nau.4_Missense_Mutation_p.L11F	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	11					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCAGATTTCTCAATCTCGTCC	0.552000			T	C15orf55	lethal midline carcinoma of young people									45			28		8.88839e-20	9.04098e-20	1	1	0
C8orf46	254778	broad.mit.edu	37	8	67428287	67428287	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:67428287C>T	uc003xwg.3	+	5	993	c.600C>T	c.(598-600)acC>acT	p.T200T	C8orf46_uc003xwh.3_Non-coding_Transcript|C8orf46_uc011let.2_3'UTR|C8orf46_uc003xwi.3_Silent_p.T65T	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	Homo sapiens chromosome 8 open reading frame 46 (C8orf46), mRNA.	200										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGGGAGCCACCAACAGCGCCT	0.547000														11			5		0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42146071	42146071	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:42146071G>A	uc003orx.3	+	3	900	c.255G>A	c.(253-255)aaG>aaA	p.K85K	GUCA1A_uc011duo.2_Non-coding_Transcript|GUCA1A_uc010jxt.3_Silent_p.K85K	NM_000409	NP_000400	P43080	GUC1A_HUMAN	Homo sapiens guanylate cyclase activator 1A (retina) (GUCA1A), mRNA.	85	EF-hand 2.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGTCCTCAAGGGGAAGGTGG	0.612000														74			57		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34383841	34383841	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:34383841G>A	uc001bxm.1	-	4	951	c.774C>T	c.(772-774)ttC>ttT	p.F258F	CSMD2_uc001bxn.1_Silent_p.F218F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	218	CUB 2.					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)				ACTCCGAGGGGAAGTGGGGGC	0.582000														20			10		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42041780	42041780	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:42041780A>C	uc010ucy.2	+	16	6156	c.5975A>C	c.(5974-5976)aAg>aCg	p.K1992T	MGA_uc010ucz.2_Missense_Mutation_p.K1783T|MGA_uc010uda.1_Missense_Mutation_p.K608T|MGA_uc001zoi.3_Missense_Mutation_p.K206T	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1953						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GAAACGAAGAAGGTTCTACAG	0.408000														30			20		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373172	24373172	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:24373172C>T	uc002dmf.3	+	3	2138	c.936C>T	c.(934-936)acC>acT	p.T312T		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	312					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R311H(1)|p.R311P(1)|p.R311R(1)|p.R311C(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACAGGCGCACCACGCCCGTCT	0.552000														19			13		0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627173	187627173	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:187627173G>A	uc002ups.3	+	7	2216	c.2104G>A	c.(2104-2106)Gac>Aac	p.D702N	FAM171B_uc002upr.1_Missense_Mutation_p.D669N|FAM171B_uc002upt.3_Missense_Mutation_p.D171N	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	702						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						CCAGAGCAATGACACCAGTCT	0.483000														13			16		0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180335889	180335889	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:180335889C>T	uc003mmp.3	+	1	587	c.353C>T	c.(352-354)tCc>tTc	p.S118F	BTNL8_uc003mmq.3_Missense_Mutation_p.S118F|BTNL8_uc010jll.3_Missense_Mutation_p.S118F|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	118	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGATTAGTTCCCAGTCTTAC	0.463000														25			61		0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126916150	126916150	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:126916150C>T	uc003eji.1	+	1	862	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TTCAGAGCTCCGCCCTCTGCC	0.637000														17			11		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32193052	32193052	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:32193052G>A	uc001btn.3	-	32	5081	c.4727C>T	c.(4726-4728)cCa>cTa	p.P1576L	BAI2_uc010ogn.2_Missense_Mutation_p.P546L|BAI2_uc010ogo.2_Missense_Mutation_p.P1166L|BAI2_uc010ogp.2_Missense_Mutation_p.P1509L|BAI2_uc010ogq.2_Missense_Mutation_p.P1542L|BAI2_uc001bto.3_Missense_Mutation_p.P1575L|BAI2_uc001btp.1_3'UTR	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	1576					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACCATCCGGTGGTTCTGTGGG	0.552000														5			20		0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491516	30491516	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:30491516G>A	uc003tav.3	-	5	2040	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	506	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GTCACCCCCGGGGCCCAGCTC	0.622000														40			14		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221457	59221457	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:59221457C>T	uc010dps.1	+	10	2087	c.1935C>T	c.(1933-1935)caC>caT	p.H645H	CDH20_uc002lif.2_Silent_p.H639H	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	645					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGAGGCGGCACCGGAAACAAC	0.562000														69			47		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578414	58578414	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:58578414C>T	uc002qrg.3	+	3	637	c.634C>T	c.(634-636)Cac>Tac	p.H212Y	ZNF135_uc002qre.3_Missense_Mutation_p.H188Y|ZNF135_uc002qrf.3_Missense_Mutation_p.H146Y|ZNF135_uc010yhq.2_Missense_Mutation_p.H200Y|ZNF135_uc010yhr.2_Missense_Mutation_p.H9Y|ZNF135_uc002qrd.2_Missense_Mutation_p.H200Y|ZNF135_uc021vcu.1_Intron	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	200					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACAAAGCCCCCACACATGGGG	0.468000														8			37		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18668108	18668108	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:18668108G>A	uc002gul.3	+	6	1806	c.1574G>A	c.(1573-1575)gGg>gAg	p.G525E	FBXW10_uc002guj.3_Missense_Mutation_p.G496E|FBXW10_uc002guk.3_Missense_Mutation_p.G496E|FBXW10_uc010cqh.2_Missense_Mutation_p.G496E	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	496										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGTCACCAGGGGACTATCACT	0.468000														7			22		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130485459	130485459	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:130485459C>T	uc004brq.1	+	6	786	c.719C>T	c.(718-720)gCc>gTc	p.A240V	PTRH1_uc011mah.2_Intron|TTC16_uc011mai.1_Missense_Mutation_p.A227V|TTC16_uc004brr.1_Missense_Mutation_p.A185V|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	240							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CACCCGCAGGCCAGGATGCTG	0.667000														29			23		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599885	29599885	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:29599885G>A	uc001usl.4	+	0	1138	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	350						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						ATCCATGTGGGGAAGCACACC	0.572000														17			18		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28345419	28345419	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:28345419T>C	uc001iua.1	-	17	1945	c.1541A>G	c.(1540-1542)aAa>aGa	p.K514R	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.K514R|MPP7_uc009xla.2_Missense_Mutation_p.K514R|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	514	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TGTGAAGGGTTTTGCAGCACC	0.453000														74			47		0	0	1	0	0
SET	6418	broad.mit.edu	37	9	131455201	131455201	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:131455201C>T	uc004bvt.4	+	4	713	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	SET_uc022bol.1_Silent_p.L136L|SET_uc004bvu.4_Silent_p.L145L|SET_uc011mbj.2_Silent_p.L134L	NM_001122821	NP_001116293	Q01105	SET_HUMAN	Homo sapiens SET nuclear oncogene (SET), transcript variant 1, mRNA.	158					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AGAATTTCATCTGAATGAGAG	0.313000			T	NUP214	AML									13			8		0	0	1	0	0
TCRGV	0	broad.mit.edu	37	7	38402650	38402650	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:38402650G>A	uc003tgs.1	-	1	359	c.169C>T	c.(169-171)Cag>Tag	p.Q57*	LOC100506776_uc003tgp.2_Intron					Homo sapiens cDNA clone IMAGE:5227869, **** WARNING: chimeric clone ****.																		TTCCCCTCCTGGTGTAGGTAC	0.498000														33			25		0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40091939	40091939	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:40091939C>T	uc002hyj.4	+	2	423	c.334C>T	c.(334-336)Cct>Tct	p.P112S	TTC25_uc021txp.1_Missense_Mutation_p.P112S	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	112						cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CAAGCTGAGGCCTGATCGGGA	0.507000														2			5		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52031437	52031437	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:52031437G>A	uc002pwy.3	-	5	1291	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	SIGLEC6_uc002pwz.3_Silent_p.F345F|SIGLEC6_uc010ydb.2_Silent_p.F309F|SIGLEC6_uc010ydc.2_Silent_p.F372F|SIGLEC6_uc002pxa.3_Intron|SIGLEC6_uc010eoz.2_Intron	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	361					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AAACACAGAGGAAAACCAGGG	0.507000														7			24		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10116265	10116265	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:10116265C>T	uc002mmq.1	-	3	649	c.563G>A	c.(562-564)gGg>gAg	p.G188E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	188	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GTCCTGGGTCCCCAGCACAGT	0.562000														7			19		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103322324	103322324	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:103322324G>A	uc002tca.3	+	10	2139	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	666						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.S665F(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCAACCTCCCGATATTTATCC	0.303000														20			8		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188211	152188211	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:152188211C>T	uc001ezt.1	-	2	5970	c.5894G>A	c.(5893-5895)gGc>gAc	p.G1965D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1965					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATATGGGCCGTAGCTGGA	0.612000														771			101		0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20940083	20940084	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:20940083_20940084CC>TT	uc002zsp.3	+	16	2280_2281	c.2200_2201CC>TT	c.(2200-2202)ccg>TTg	p.P734L	MED15_uc002zsq.3_Missense_Mutation_p.P694L|MED15_uc010gso.3_Missense_Mutation_p.P677L|MED15_uc002zsr.3_Missense_Mutation_p.P668L|MED15_uc011ahs.2_Missense_Mutation_p.P668L|MED15_uc002zss.3_Missense_Mutation_p.P613L|MED15_uc011ahu.2_Missense_Mutation_p.P444L|MED15_uc002zst.3_Missense_Mutation_p.P350L|MED15_uc002zsu.3_Missense_Mutation_p.P339L	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	734					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TGCCCAAAGCCCGCTGTGGATA	0.589000														25			15		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092777	30092777	+	RNA	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:30092777C>T	uc010dmc.3	+	0		c.1152C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GAACTGACTCCTCTTCAAGCC	0.438000														32			9		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37533707	37533707	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:37533707C>T	uc003aqv.1	-	5	588	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	153	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	p.W152*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TGGGAGATTTCCCAGCTTATG	0.597000														30			24		0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26918129	26918129	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:26918129A>G	uc001wqa.3	-	5	980	c.194T>C	c.(193-195)aTa>aCa	p.I65T	NOVA1_uc001wpy.3_Missense_Mutation_p.I187T|NOVA1_uc001wpz.3_Missense_Mutation_p.I163T	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	190	KH 1.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TCCCTTCCCTATTATCAGACC	0.403000														23			35		0	0	1	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136554976	136554976	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:136554976C>T	uc003yuv.3	+	2	681	c.287C>T	c.(286-288)tCc>tTc	p.S96F	KHDRBS3_uc003yuw.3_Missense_Mutation_p.S96F	NM_006558	NP_006549	O75525	KHDR3_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA.	96	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ACAAAAATGTCCATCCTTGGG	0.363000														48			17		0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52551593	52551593	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:52551593G>A	uc002lfr.3	+	3	512	c.269G>A	c.(268-270)aGa>aAa	p.R90K		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	90					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		GCATTTTTCAGAGACGCCATG	0.423000														29			17		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023348	18023348	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:18023348C>T	uc021trm.1	+	0	1453	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	MYO15A_uc021trl.1_Missense_Mutation_p.P412S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	412	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTTGTGTACCCCTGGGTACC	0.657000														12			24		0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17787503	17787503	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:17787503G>A	uc003zna.3	+	4	745	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	SH3GL2_uc011lmx.1_Missense_Mutation_p.E118K|SH3GL2_uc011lmy.2_Missense_Mutation_p.E106K	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	153	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGATCTTAGGGAAATTCAAGT	0.403000														6			15		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540585	94540585	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:94540585C>T	uc003unp.3	+	1	1442	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	PPP1R9A_uc010lfj.3_Missense_Mutation_p.S387L|PPP1R9A_uc011kif.2_Missense_Mutation_p.S387L|PPP1R9A_uc003unq.3_Missense_Mutation_p.S387L|PPP1R9A_uc011kig.2_Missense_Mutation_p.S387L	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	387						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CCTGAAGATTCAAATAATTTT	0.448000										HNSCC(28;0.073)				20			15		0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113885249	113885249	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:113885249C>T	uc002tjb.3	+	0	112	c.48C>T	c.(46-48)ctC>ctT	p.L16L	IL1RN_uc002tix.1_Intron|IL1RN_uc002tiz.3_Intron|IL1RN_uc002tiy.3_Intron|IL1RN_uc002tja.3_Intron	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	16					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	CTCTCCTCCTCTTCCTGTTCC	0.552000									Lichen Sclerosis et Atrophicus, Familial Clustering of					17			20		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109629475	109629475	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:109629475G>A	uc001tob.3	+	13	2321	c.2202G>A	c.(2200-2202)gtG>gtA	p.V734V	ACACB_uc001toc.3_Silent_p.V734V	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	734	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.T733T(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGACTACCGTGGAATACCTCA	0.498000														47			11		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124265679	124265679	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:124265679G>A	uc001uft.4	+	5	516	c.491G>A	c.(490-492)gGa>gAa	p.G164E		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	164	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G164E(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACAACCGTGGGAGTCACATCT	0.423000														57			40		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334178	37334178	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:37334178C>T	uc003aqa.4	+	13	2545	c.2328C>T	c.(2326-2328)tcC>tcT	p.S776S	CSF2RB_uc003aqc.4_Silent_p.S782S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	776					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.R775R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGGGCCGGTCCCCCAGGTCAC	0.637000														38			23		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171240255	171240255	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:171240255C>T	uc002ufy.3	+	11	1364	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	MYO3B_uc002ufv.3_Silent_p.S394S|MYO3B_uc010fqb.1_Silent_p.S407S|MYO3B_uc002ufz.3_Silent_p.S407S|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	407	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity	p.S397_A406del(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AACGCGCCTCCAATCCCCCCC	0.468000														31			20		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141731546	141731546	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:141731546G>A	uc003vwy.3	+	12	1591	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	513	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.E513*(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGGACAAAGGAATTTGAGCT	0.368000														32			17		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123202732	123202732	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:123202732C>T	uc003ieh.3	+	49	8885	c.8840C>T	c.(8839-8841)tCt>tTt	p.S2947F	KIAA1109_uc003iel.1_Missense_Mutation_p.S882F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2947					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						CCACTACCTTCTGAAAAAACC	0.343000														24			15		0	0	1	0	0
ASF1B	55723	broad.mit.edu	37	19	14247206	14247206	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:14247206G>A	uc002mye.3	-	0	235	c.63C>T	c.(61-63)ccC>ccT	p.P21P	LOC100507373_uc002myf.3_5'Flank	NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	Homo sapiens ASF1 anti-silencing function 1 homolog B (S. cerevisiae) (ASF1B), mRNA.	21	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CGAACCGGAAGGGGCTGTGGA	0.726000														11			36		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32046827	32046827	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:32046827G>A	uc003nzl.2	-	10	4560	c.4358C>T	c.(4357-4359)tCc>tTc	p.S1453F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1540					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCACGGCGGACACCGGGCC	0.667000														28			11		0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944371	55944371	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:55944371C>T	uc010rjb.2	+	0	278	c.278C>T	c.(277-279)tCt>tTt	p.S93F		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCAACAATTTCTTTCTCTGCT	0.448000														14			28		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219290484	219290485	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:219290484_219290485CC>TT	uc002vib.3	+	2	319_320	c.297_298CC>TT	c.(295-300)gtccag>gtTTag	p.Q100*	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Nonsense_Mutation_p.Q100*|VIL1_uc002vic.1_Nonsense_Mutation_p.Q100*	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	100	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCGCGAGGTCCAGGGCAACGA	0.619000														41			19		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366895	10366896	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:10366895_10366896GG>AA	uc002gmn.3	-	7	824_825	c.713_714CC>TT	c.(712-714)acc>aTT	p.T238I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	238	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CATTCCTCACGGTCTTGGCATT	0.421000														11			24		0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152272	149152272	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:149152272G>A	uc003wfv.3	-	1	1005	c.842C>T	c.(841-843)cCc>cTc	p.P281L		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P281S(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCTTACCTTGGGAACTTCTCC	0.502000														81			39		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25259905	25259905	+	Missense_Mutation	SNP	G	A	A	rs141572576		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:25259905G>A	uc001rgh.3	+	19	2271	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	LRMP_uc010sja.2_Missense_Mutation_p.E393K|LRMP_uc010sjc.2_Missense_Mutation_p.E393K|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.E340K|LRMP_uc010sjd.2_Missense_Mutation_p.E340K	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	449					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GCCATCTGGAGAAGAAACAGT	0.303000														18			6		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50255423	50255423	+	Silent	SNP	C	T	T	rs140222807	by1000genomes	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:50255423C>T	uc003cyn.4	+	10	1068	c.927C>T	c.(925-927)ctC>ctT	p.L309L	SLC38A3_uc011bdl.2_Silent_p.L285L|SLC38A3_uc011bdm.2_Silent_p.L241L	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	310					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	ATACTGAGCTCAAGGAGTAGG	0.592000														17			12		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375244	8375244	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:8375244C>G	uc001qui.2	-	6	1128	c.569G>C	c.(568-570)aGt>aCt	p.S190T	FAM90A1_uc001quh.2_Missense_Mutation_p.S190T	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	190							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GGAGCTCAGACTGGCTTTTCT	0.597000														26			23		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554584	20554584	+	Splice_Site	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:20554584C>T	uc002dhj.4	-	12	1492	c.1282_splice	c.e12-1	p.E428_splice	ACSM2B_uc002dhk.4_Splice_Site_p.E428_splice|ACSM2B_uc010bwf.1_Splice_Site_p.E428_splice	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	428					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCGGGATTTTCCTGGTGACCA	0.483000														68			41		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228157962	228157962	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:228157962G>A	uc002vom.2	+	37	3428	c.3266G>A	c.(3265-3267)gGc>gAc	p.G1089D	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.	1089	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)		GGGCAACCTGGCCCACCTGGA	0.502000														17			11		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122004029	122004029	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:122004029G>A	uc003eew.4	+	6	3696	c.3258G>A	c.(3256-3258)gtG>gtA	p.V1086V	CASR_uc003eev.4_Silent_p.V1076V	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	1076					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AAAACGTAGTGAATTCATAAA	0.512000														35			23		0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79651110	79651110	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:79651110G>T	uc002kbg.3	+	0	149	c.14G>T	c.(13-15)aGc>aTc	p.S5I	ARL16_uc002kbf.3_5'Flank|ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_Missense_Mutation_p.S5I	NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	5					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GGGCGAGGCAGCGGCACCTTC	0.736000														5			3		0.115264	0.115426	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158617450	158617450	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:158617450C>T	uc001fst.1	-	26	3974	c.3775G>A	c.(3775-3777)Gac>Aac	p.D1259N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1259					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D1259D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCTGCAGGTCCTCAGTGGCA	0.532000														11			50		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76511081	76511081	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:76511081C>T	uc010dhp.2	-	25	4013	c.3888G>A	c.(3886-3888)tgG>tgA	p.W1296*		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)			TGGTGGTCTTCCAGTCCTCGA	0.438000														32			20		0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22397579	22397579	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:22397579G>A	uc001mqk.3	+	9	1639	c.1226G>A	c.(1225-1227)aGa>aAa	p.R409K		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	409					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCTCATACTAGAGGGGTAGCA	0.378000														60			30		0	0	1	0	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184302	26184302	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:26184302G>A	uc003ngt.3	+	0	279	c.279G>A	c.(277-279)agG>agA	p.R93R		NM_003523	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2be (HIST1H2BE), mRNA.	93					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						TCACCTCCAGGGAGATCCAGA	0.612000														72			35		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994959	11994959	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:11994959C>T	uc003wvc.1	-	0	1311	c.1311G>A	c.(1309-1311)tgG>tgA	p.W437*	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	437					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GGGGGAATTTCCAGTGGTCTA	0.522000														77			26		0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149357477	149357477	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:149357477G>A	uc003ilj.4	-	1	899	c.536C>T	c.(535-537)gCc>gTc	p.A179V	NR3C2_uc003ilk.4_Missense_Mutation_p.A179V|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	179	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.A179V(2)|p.R178C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTTAACAACGGCGCGCATGAC	0.507000														45			36		0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27938590	27938590	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr21:27938590G>A	uc002yme.3	-	1	493	c.171C>T	c.(169-171)atC>atT	p.I57I	CYYR1_uc002ymd.3_Silent_p.I57I|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	57						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						CTCACGAGAGGATATTCCCAA	0.428000														17			9		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121170430	121170430	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:121170430G>A	uc003yox.3	+	2	415	c.150G>A	c.(148-150)tgG>tgA	p.W50*		NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	50	Fibronectin type-III 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGATTTCATGGAAGGCTCCAA	0.353000														24			9		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377994	77377994	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:77377994T>C	uc004ajl.1	-	25	3831	c.3593A>G	c.(3592-3594)aAg>aGg	p.K1198R	TRPM6_uc004ajk.1_Missense_Mutation_p.K1193R|TRPM6_uc022bib.1_Missense_Mutation_p.K1193R|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.K154R	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1198					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						TAAGGAGTCCTTTATAAAAGA	0.458000														13			13		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8689338	8689338	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:8689338G>A	uc002wnb.3	+	11	1192	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	PLCB1_uc010zrb.1_Missense_Mutation_p.E296K|PLCB1_uc002wna.3_Missense_Mutation_p.E397K|PLCB1_uc002wnc.1_Missense_Mutation_p.E296K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	397	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCAATTGCGGAGTGTGCATT	0.343000														26			10		0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42735229	42735229	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:42735229G>A	uc003clw.3	-	10	1275	c.1128C>T	c.(1126-1128)acC>acT	p.T376T	HHATL_uc003clx.3_Silent_p.T376T	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	376					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCCACAGTGTGGTGATGGCAA	0.517000														12			14		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016144	38016144	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:38016144C>T	uc003gtb.3	+	2	790	c.432C>T	c.(430-432)atC>atT	p.I144I	TBC1D1_uc011byd.2_Silent_p.I144I|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Silent_p.I15I	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	144						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						CTGAGATCATCAGCTCCATCC	0.577000														40			38		0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40836130	40836131	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:40836130_40836131CC>GT	uc002iay.3	+	2	462_463	c.246_247CC>GT	c.(244-249)atccgg>atGTgg	p.82_83IR>MW	CCR10_uc002iax.4_5'Flank|CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	82	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGCACCGGATCCGGGCCGTGGC	0.545000														41			52		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50204796	50204796	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:50204796G>A	uc010eng.3	+	6	914	c.598G>A	c.(598-600)Gac>Aac	p.D200N	CPT1C_uc002ppl.4_Missense_Mutation_p.D166N|CPT1C_uc002ppi.3_Missense_Mutation_p.D117N|CPT1C_uc002ppk.3_Missense_Mutation_p.D200N|CPT1C_uc010enh.3_Missense_Mutation_p.D200N|CPT1C_uc002ppj.3_Missense_Mutation_p.D200N|CPT1C_uc010ybc.1_Missense_Mutation_p.D38N	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	200					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CGAGGACTTCGACTGGACCGC	0.677000														2			28		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28378660	28378660	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:28378660C>T	uc001iua.1	-	13	1467	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E355K|MPP7_uc009xla.2_Missense_Mutation_p.E355K|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	355					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTCACTTCTTCGTATGTGGGT	0.378000														71			41		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100348394	100348394	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:100348394G>A	uc003uwj.3	+	11	1561	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	ZAN_uc003uwk.3_Missense_Mutation_p.E466K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	466	MAM 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TACTATGCTCGAACTCCTCCT	0.622000														9			7		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10998270	10998270	+	RNA	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr21:10998270C>T	uc002yis.1	-	10		c.1983G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCCTTAGTTTCATCATTCACA	0.388000														50			27		0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138395565	138395565	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:138395565C>T	uc004cfv.4	+	3	551	c.477C>T	c.(475-477)gcC>gcT	p.A159A	BC015688_uc004cfy.3_Intron	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), nuclear gene encoding mitochondrial protein, mRNA.	159					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		AGAACATGGCCCGTGACTGTG	0.612000														25			13		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38951638	38951638	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:38951638C>T	uc021wvy.1	-	7	1219	c.1020G>A	c.(1018-1020)acG>acA	p.T340T		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	340					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T340T(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTCAAAATTCGTATAATTAT	0.368000														34			14		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164901	139164901	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:139164901G>A	uc003yuy.3	-	12	1988	c.1817C>T	c.(1816-1818)tCt>tTt	p.S606F	FAM135B_uc003yux.3_Missense_Mutation_p.S507F|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S168F|FAM135B_uc003yvb.3_Missense_Mutation_p.S168F	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	606										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTGTCTGAAGAGATGGCATT	0.453000										HNSCC(54;0.14)				62			49		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181727944	181727944	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:181727944C>T	uc009wxt.3	+	31	4740	c.4545C>T	c.(4543-4545)atC>atT	p.I1515I	CACNA1E_uc001gow.3_Silent_p.I1515I|CACNA1E_uc009wxs.3_Silent_p.I1496I|CACNA1E_uc001gox.1_Silent_p.I741I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1515					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCTGAATATCGCCTTCACCA	0.458000														11			45		0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25201907	25201907	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:25201907C>T	uc002wuj.2	+	10	1163	c.983C>T	c.(982-984)cCc>cTc	p.P328L	ENTPD6_uc010zsy.1_Missense_Mutation_p.P328L|ENTPD6_uc010gdj.1_Missense_Mutation_p.P300L|ENTPD6_uc002wum.2_Missense_Mutation_p.P311L|ENTPD6_uc010zta.1_Missense_Mutation_p.P328L|ENTPD6_uc002wuk.2_Missense_Mutation_p.P327L|ENTPD6_uc002wul.2_Missense_Mutation_p.P327L|ENTPD6_uc010ztb.1_Missense_Mutation_p.P300L|ENTPD6_uc010ztc.1_Missense_Mutation_p.P300L|ENTPD6_uc002wuo.2_Missense_Mutation_p.P80L|ENTPD6_uc010zsz.1_Missense_Mutation_p.P110L|ENTPD6_uc010ztd.1_Intron|ENTPD6_uc010gdl.1_5'Flank|ENTPD6_uc010gdk.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	328						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						TGCTTGTCTCCCAGTTTCAAA	0.512000														19			13		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31538298	31538298	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:31538298C>T	uc010dmi.3	-	6	1439	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R	NOL4_uc010xbs.2_Missense_Mutation_p.G96R|NOL4_uc002kxr.4_Missense_Mutation_p.G217R|NOL4_uc010xbt.2_Missense_Mutation_p.G307R|NOL4_uc010dmh.3_Missense_Mutation_p.G307R|NOL4_uc010xbu.2_Missense_Mutation_p.G381R|NOL4_uc002kxt.4_Missense_Mutation_p.G381R|NOL4_uc010xbv.1_Missense_Mutation_p.G130R	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	381						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCCTCATCTCCCCTGTTTAGT	0.493000														70			34		0	0	1	0	0
TRADD	8717	broad.mit.edu	37	16	67188614	67188614	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:67188614C>T	uc002eri.1	-	4	957	c.877G>A	c.(877-879)Gag>Aag	p.E293K	TRADD_uc002erh.1_Missense_Mutation_p.E233K	NM_003789	NP_003780	Q15628	TRADD_HUMAN	Homo sapiens TNFRSF1A-associated via death domain (TRADD), mRNA.	293					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CTGGTGAGCTCGTTCTCCTCG	0.682000														0			3		0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73952133	73952133	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:73952133G>A	uc003pgo.3	-	2	828	c.327C>T	c.(325-327)atC>atT	p.I109I	KHDC1_uc011dyl.1_Non-coding_Transcript|KHDC1_uc003pgn.4_Silent_p.I36I	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	109	KH; atypical.					integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						ACTCACCGAAGATGAGCTCCT	0.522000														6			6		0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58840674	58840674	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:58840674G>A	uc010bga.2	+	7	1562	c.954G>A	c.(952-954)aaG>aaA	p.K318K	LIPC_uc010bfz.1_Silent_p.K318K|LIPC_uc002afa.2_Silent_p.K318K|LIPC_uc010bgb.1_Silent_p.K216K|LIPC_uc010ugy.2_Silent_p.K257K	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	318					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCTGCAAGAAGGGCCGCTGCA	0.627000														9			10		0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007278	56007278	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:56007278A>G	uc003tra.2	+	6	1718	c.911A>G	c.(910-912)cAt>cGt	p.H304R	ZNF713_uc003trc.1_Missense_Mutation_p.H291R	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCATTCAACATCAGAGAATT	0.418000														29			18		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75886364	75886364	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:75886364G>A	uc003kek.3	+	7	994	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	258					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATATCAGAAAGAACTCTGGGA	0.363000														10			17		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7615505	7615505	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:7615505C>T	uc010xjq.2	+	17	2316	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G	PNPLA6_uc002mgq.2_Silent_p.G644G|PNPLA6_uc010xjp.2_Silent_p.G618G|PNPLA6_uc002mgr.2_Silent_p.G644G|PNPLA6_uc002mgs.3_Silent_p.G683G	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	683					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						GCGAGTACGGCCGCGGCGACC	0.647000														4			41		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164899	139164899	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:139164899A>T	uc003yuy.3	-	12	1990	c.1819T>A	c.(1819-1821)Tca>Aca	p.S607T	FAM135B_uc003yux.3_Missense_Mutation_p.S508T|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.S169T|FAM135B_uc003yvb.3_Missense_Mutation_p.S169T	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	607										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTTTTGTCTGAAGAGATGGCA	0.463000										HNSCC(54;0.14)				61			48		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348079	140348080	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:140348079_140348080CC>AT	uc003lii.3	+	0	2333_2334	c.1728_1729CC>AT	c.(1726-1731)gcccct>gcATct	p.P577S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.P577S	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	577	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACCATGCCCCTCACATTCT	0.550000														20			18		0	0	1	0	0
TFAM	7019	broad.mit.edu	37	10	60150558	60150558	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:60150558C>T	uc001jkf.3	+	4	607	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C	TFAM_uc001jkg.3_Non-coding_Transcript	NM_003201	NP_003192	Q00059	TFAM_HUMAN	Homo sapiens transcription factor A, mitochondrial (TFAM), nuclear gene encoding mitochondrial protein, mRNA.	159					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAAAAGACCTCGTTCAGCTTA	0.328000														12			14		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677862	3677862	+	Silent	SNP	C	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:3677862C>G	uc002wja.3	-	8	2250	c.2250G>C	c.(2248-2250)ctG>ctC	p.L750L	SIGLEC1_uc002wiz.4_Silent_p.L750L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	750	Ig-like C2-type 7.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCTGGGCCCACAGCACCCCAT	0.622000														35			16		0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235498	127235498	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:127235498C>T	uc003vmd.2	+	1	501	c.282C>T	c.(280-282)tgC>tgT	p.C94C	FSCN3_uc003vmc.1_Silent_p.C49C|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.2_Silent_p.C94C	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	94						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ACCATGGGTGCTTTCTACTGC	0.567000														16			15		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135042377	135042377	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:135042377G>A	uc004cbh.2	+	1	935	c.159G>A	c.(157-159)aaG>aaA	p.K53K		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	53	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TCAAGGTGAAGGTGGAGCCCT	0.577000														32			17		0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76916807	76916807	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:76916807C>T	uc003uga.3	+	16	2455	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	CCDC146_uc010ldp.3_Silent_p.F490F|CCDC146_uc003ugc.3_Silent_p.F113F	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	776										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGAAGGATTTCATCTATGAGC	0.473000														20			18		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404428	20404428	+	Silent	SNP	G	A	A	rs149331677	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:20404428G>A	uc001vwj.2	+	0	662	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACCCTAACGAACAGTGGCC	0.448000														65			16		0	0	1	0	0
AIP	9049	broad.mit.edu	37	11	67256877	67256877	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:67256877C>T	uc001olv.3	+	2	544	c.419C>T	c.(418-420)gCc>gTc	p.A140V		NM_003977	NP_003968	O00170	AIP_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein (AIP), mRNA.	140					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						GACCTGGACGCCCTGCAGCAG	0.667000									Familial Isolated Pituitary Adenoma					12			34		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10541402	10541402	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	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														9			31		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2158925	2158925	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:2158925G>A	uc002cos.1	-	14	6452	c.6243C>T	c.(6241-6243)gcC>gcT	p.A2081A	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.A2081A	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2081	PKD 17.				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						GGCTGGTGGCGGCCTCAAACT	0.682000														7			6		0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	67976655	67976655	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:67976655G>A	uc003xxi.3	+	0	53	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	CSPP1_uc003xxg.1_Missense_Mutation_p.A8T|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.A8T|COPS5_uc003xxd.3_5'Flank|COPS5_uc003xxe.3_5'Flank|COPS5_uc003xxf.3_5'Flank|COPS5_uc010lyv.1_5'Flank	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	8						centrosome|microtubule|spindle		p.A8A(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCTCCAGGTGGCCGCTGTAAC	0.706000											OREG0018811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			15		0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88924452	88924452	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:88924452C>T	uc001pcs.3	+	1	984	c.902C>T	c.(901-903)cCt>cTt	p.P301L		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	301					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CGGCGTAATCCTGGAAACCAT	0.468000														21			30		0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1950370	1950370	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:1950370G>A	uc001luu.4	+	6	315	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.4_Intron|TNNT3_uc001luo.4_Intron|TNNT3_uc001lup.4_Intron|TNNT3_uc001luq.4_Intron|TNNT3_uc001lur.3_Intron|TNNT3_uc010qxf.2_Intron|TNNT3_uc010qxg.2_Intron|TNNT3_uc001lus.1_Intron|TNNT3_uc001lut.1_Non-coding_Transcript	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	46					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		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;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GGAGGACGCGGAAGGTAAGGG	0.662000														65			54		0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108302523	108302523	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:108302523T>C	uc001pkh.3	-	2	194	c.124A>G	c.(124-126)Aga>Gga	p.R42G	C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	42										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		CCTTGTCTTCTTAAATCAATC	0.308000														9			31		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41015864	41015864	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:41015864G>A	uc003gvn.3	-	5	1201	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	APBB2_uc003gvl.3_Nonsense_Mutation_p.Q191*|APBB2_uc003gvm.3_Nonsense_Mutation_p.Q191*|APBB2_uc011byt.1_Nonsense_Mutation_p.Q174*	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	191					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.S190P(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TGGACTGGCTGGGATTTCTCT	0.532000														123			76		0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89762196	89762197	+	Splice_Site	DNP	CC	TT	TT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:89762196_89762197CC>TT	uc002bnl.3	-	3	392	c.12_splice	c.e3+1	p.G4_splice		NM_000326	NP_000317	P12271	RLBP1_HUMAN	Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA.	4					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GGTACTTACCCCTTCTGACATG	0.550000														13			8		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87969757	87969757	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:87969757C>T	uc003plm.4	+	7	6451	c.6410C>T	c.(6409-6411)gCt>gTt	p.A2137V		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATTACCAGGCTGTACACAAA	0.403000														3			28		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12315147	12315147	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:12315147G>A	uc001rah.4	-	9	2401	c.2259C>T	c.(2257-2259)ctC>ctT	p.L753L	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.L753L	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	753	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTCCAACGCGAGAGCTCTGG	0.478000														47			39		0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157689089	157689089	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:157689089G>A	uc003iph.2	-	4	1248	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	PDGFC_uc003ipi.2_Missense_Mutation_p.R90C|PDGFC_uc011cis.2_Missense_Mutation_p.R90C|PDGFC_uc011cir.2_Missense_Mutation_p.R97C	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	253					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GAGAAGTTACGAGGTGTGCAG	0.428000														53			37		0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68118697	68118697	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:68118697G>A	uc002aqy.1	+	1	504	c.504G>A	c.(502-504)gaG>gaA	p.E168E		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.	177					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	SMAD binding|nucleotide binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						AGCTGCCCGAGAACTTCGCCT	0.622000														42			32		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878832	5878832	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:5878832C>T	uc010qzr.2	-	0	101	c.101G>A	c.(100-102)gGa>gAa	p.G34E	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAGGGACTCCAATCCAAAT	0.463000														48			30		0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121771	73121772	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:73121771_73121772GG>AA	uc001jrr.4	+	5	891_892	c.834_835GG>AA	c.(832-837)caggac>caAAac	p.D279N	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Missense_Mutation_p.D133N|SLC29A3_uc001jrt.4_Missense_Mutation_p.D73N	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	279					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						AGCTTCCCCAGGACTCCCTCAG	0.589000														13			21		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155232632	155232633	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:155232632_155232633CC>TT	uc021xge.1	-	10	1752_1753	c.1475_1476GG>AA	c.(1474-1476)agg>aAA	p.R492K	PLCH1_uc021xgd.1_Missense_Mutation_p.R492K|PLCH1_uc021xgf.1_Missense_Mutation_p.R474K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	492					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCAGTTTTTTCCTTATGAAAGA	0.391000														10			14		0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10273826	10273826	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:10273826G>A	uc002wnq.2	+	4	393	c.181G>A	c.(181-183)Gag>Aag	p.E61K	SNAP25_uc002wnr.2_Intron|SNAP25_uc002wns.2_5'UTR|SNAP25_uc010gca.2_Intron	NM_130811	NP_570824	P60880	SNP25_HUMAN	Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 2, mRNA.	61	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GGAACGCATTGAGGAAGGGAT	0.393000														45			23		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	144918732	144918732	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:144918732C>T	uc003ijn.2	-	4	443	c.327G>A	c.(325-327)acG>acA	p.T109T	GYPA_uc010ioo.1_Intron|GYPA_uc010iop.2_Non-coding_Transcript|GYPA_uc011chv.1_Non-coding_Transcript|GYPA_uc011chw.1_Intron|GYPA_uc011chx.1_Non-coding_Transcript|GYPA_uc003ijm.1_Silent_p.T77T|GYPA_uc011chy.1_Non-coding_Transcript|GYPA_uc011chs.1_Intron|GYPA_uc011cht.1_Non-coding_Transcript|GYPA_uc011chu.1_Non-coding_Transcript|GYPA_uc011chz.2_Intron			P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	106					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTAAGAGGATCGTTCCAATAA	0.358000														22			7		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238296739	238296739	+	Silent	SNP	T	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:238296739T>C	uc002vwl.2	-	3	1083	c.798A>G	c.(796-798)gtA>gtG	p.V266V	COL6A3_uc002vwo.2_Silent_p.V60V|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Silent_p.V60V|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Silent_p.V266V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	266	Nonhelical region.|VWFA 2.				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)		CAAGGAGATTTACAAGGAAGT	0.443000														33			29		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69344587	69344587	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:69344587C>T	uc003hdz.4	+	8	1052	c.988C>T	c.(988-990)Cga>Tga	p.R330*		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	330	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AAATCATCTTCGACAAGCACA	0.343000														11			36		0	0	1	0	0
TMEM82	388595	broad.mit.edu	37	1	16070999	16070999	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:16070999C>T	uc001axc.3	+	3	819	c.681C>T	c.(679-681)ttC>ttT	p.F227F		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	Homo sapiens transmembrane protein 82 (TMEM82), mRNA.	227	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGGACTTCCTGACCACCT	0.652000														2			10		0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124998088	124998088	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:124998088G>A	uc003ehx.4	-	5	949	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F	SLC12A8_uc003ehw.4_5'UTR|ZNF148_uc003ehz.4_Missense_Mutation_p.L155F|ZNF148_uc010hsa.3_Missense_Mutation_p.L155F|ZNF148_uc003eia.4_Missense_Mutation_p.L155F|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	155					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTTATTGTAAGGATCTAGTTC	0.308000														28			14		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141590897	141590897	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:141590897G>A	uc010ioj.3	-	7	1600	c.1328C>T	c.(1327-1329)gCt>gTt	p.A443V		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	443						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCTCCATCAGCATCAGAGCT	0.572000														22			11		0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36776397	36776397	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:36776397C>T	uc010lvw.3	+	22	2665	c.2578C>T	c.(2578-2580)Cct>Tct	p.P860S	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	860						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)		CCGAAAAGTCCCTATCCTTAC	0.363000														23			23		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429471	48429471	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:48429471G>A	uc001jfb.3	-	1	843	c.415C>T	c.(415-417)Ccg>Tcg	p.P139S	GDF10_uc009xnp.3_Missense_Mutation_p.P138S|GDF10_uc009xnq.2_Missense_Mutation_p.P139S	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	139					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CACCGAGGCGGCTCTGAGTAG	0.617000														27			16		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1921109	1921109	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:1921109G>A	uc002qxe.3	-	10	2313	c.1486C>T	c.(1486-1488)Ccc>Tcc	p.P496S	MYT1L_uc002qxd.3_Missense_Mutation_p.P494S|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	496					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTTCTTGAGGGATCTAAAAGC	0.453000														53			33		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785386	111785386	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:111785386C>T	uc001tsa.2	+	21	3872	c.3718C>T	c.(3718-3720)Cca>Tca	p.P1240S		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGACCTTGATCCAAGCGGGGG	0.667000														56			35		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831617	7831617	+	Missense_Mutation	SNP	G	A	A	rs138729831	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:7831617G>A	uc010dvt.3	+	4	978	c.860G>A	c.(859-861)cGg>cAg	p.R287Q	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Missense_Mutation_p.R264Q|CLEC4M_uc010xjw.2_Missense_Mutation_p.R220Q|CLEC4M_uc010dvs.3_Missense_Mutation_p.R263Q|CLEC4M_uc010xjx.2_Missense_Mutation_p.R236Q|CLEC4M_uc002mhz.3_Missense_Mutation_p.R195Q|CLEC4M_uc002mic.3_Missense_Mutation_p.R259Q|CLEC4M_uc002mia.3_Missense_Mutation_p.R151Q	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	287	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AACTCCCAGCGGAACTGGCAC	0.592000														16			108		0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	152991508	152991509	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:152991508_152991509CC>TT	uc004fif.2	+	0	1186_1187	c.787_788CC>TT	c.(787-789)ccc>TTc	p.P263F	BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	263	ABC transmembrane type-1.		P -> L (in X-ALD; CALD, AMN and AD- types).		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTTCTCGCCCAAGTTCGGG	0.703000														8			3		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28250559	28250559	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:28250559C>T	uc009xky.3	-	9	1422	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_Missense_Mutation_p.E134K|ARMC4_uc001itz.3_Missense_Mutation_p.E442K|ARMC4_uc010qdu.1_Missense_Mutation_p.E134K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	442							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCACTTGCTTCCTGACGATGG	0.393000														32			13		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7503379	7503379	+	Silent	SNP	C	T	T	rs150784421	by1000genomes	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:7503379C>T	uc003bqm.2	+	6	1759	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	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_Silent_p.I495I|GRM7_uc003bql.2_Silent_p.I495I|GRM7_uc003bqn.1_Silent_p.I78I|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	495			I -> V (in dbSNP:rs7634846).		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)	ACCGTCTGATCGGGCAGTGGA	0.468000														46			25		0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72691364	72691364	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:72691364G>A	uc002jlg.3	-	6	847	c.744C>T	c.(742-744)tcC>tcT	p.S248S	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Silent_p.S251S|CD300LF_uc010dfw.3_Non-coding_Transcript|CD300LF_uc002jlh.3_3'UTR|CD300LF_uc002jli.3_3'UTR|CD300LF_uc010wra.2_Silent_p.S263S	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA.	248						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GAGATGCATAGGAAATGTCCT	0.632000														31			21		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288700	125288700	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	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														19			11		0	0	1	0	0
S1PR4	8698	broad.mit.edu	37	19	3179172	3179172	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:3179172G>T	uc002lxg.3	+	0	437	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S		NM_003775	NP_003766	O95977	S1PR4_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 4 (S1PR4), mRNA.	128					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GCTCTTCACCGCCCTGGCCGC	0.721000														18			23		3.28513e-13	3.31779e-13	1	1	0
AFF3	3899	broad.mit.edu	37	2	100209921	100209921	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:100209921G>A	uc002taf.3	-	13	2421	c.2277C>T	c.(2275-2277)atC>atT	p.I759I	AFF3_uc002tag.3_Silent_p.I734I|AFF3_uc010fiq.1_Silent_p.I734I|AFF3_uc010yvr.1_Silent_p.I887I|AFF3_uc002tah.1_Silent_p.I759I	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	734					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCTCCTTGGCGATGTCACTGG	0.602000														44			29		0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056369	26056369	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:26056369C>T	uc003nfw.3	-	0	331	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	96	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGGTGCCTTTCGTTTGCACCA	0.532000														86			47		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21329711	21329711	+	Splice_Site	SNP	T	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:21329711T>C	uc001req.4	+	5	464	c.360_splice	c.e5-1	p.Y120_splice		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	120					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTCTTACAGTTACAGGTATTC	0.284000														19			12		0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763731	110763731	+	Missense_Mutation	SNP	C	T	T	rs140000057	by1000genomes	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:110763731C>T	uc003puf.3	-	3	966	c.899G>A	c.(898-900)cGa>cAa	p.R300Q	SLC22A16_uc003pue.3_Missense_Mutation_p.R281Q	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	300					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TTCTTCATATCGTCCCTCTGA	0.478000														5			14		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102902	22102902	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:22102902G>A	uc010tmc.2	-	0	97	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AAGAAGACCAGGAAGAGGAGG	0.507000														11			22		0	0	1	0	0
LOC285501	285501	broad.mit.edu	37	4	178882004	178882004	+	RNA	SNP	A	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:178882004A>C	uc010iru.3	+	2		c.463A>C								Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA.														all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)		CCACATCAACATGAAAGATGA	0.348000														40			24		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012589	29012589	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:29012589G>A	uc003nlw.2	-	0	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122G(2)|p.R122S(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCTGTAAAACGATCATAGGAC	0.398000														24			10		0	0	1	0	0
SRRM3	222183	broad.mit.edu	37	7	75877519	75877519	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:75877519G>A	uc010ldi.2	+	2	456	c.247G>A	c.(247-249)Gag>Aag	p.E83K		NM_001110199	NP_001103669			Homo sapiens serine/arginine repetitive matrix 3 (SRRM3), mRNA.											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						TTCGGAGGAGGAGATTCGGCA	0.622000														11			3		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760569	92760569	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:92760569G>A	uc003umh.1	-	4	5932	c.4716C>T	c.(4714-4716)tcC>tcT	p.S1572S	SAMD9L_uc003umj.1_Silent_p.S1572S|SAMD9L_uc003umi.1_Silent_p.S1572S|SAMD9L_uc010lfb.1_Silent_p.S1572S|SAMD9L_uc003umk.1_Silent_p.S1572S|SAMD9L_uc010lfc.1_Silent_p.S1572S|SAMD9L_uc010lfd.1_Silent_p.S1572S|SAMD9L_uc022ahh.1_Silent_p.S1572S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1572										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGCCTTCAATGGAAAATCCTA	0.323000														17			12		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841889	8841890	+	Missense_Mutation	DNP	CC	TT	TT	rs143214344		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:8841889_8841890CC>TT	uc010xkg.2	+	0	499_500	c.499_500CC>TT	c.(499-501)ccc>TTc	p.P167F		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGCATTTTCCCTACTGTGCC	0.554000														31			75		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138606540	138606540	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:138606540C>T	uc011mdq.2	+	1	302	c.228C>T	c.(226-228)ggC>ggT	p.G76G	KCNT1_uc011mdr.2_5'UTR|KCNT1_uc010nbf.3_Intron	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	76						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)		TGCTGCTGGGCGACCCGTCCT	0.746000														9			4		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21513888	21513888	+	Missense_Mutation	SNP	C	T	T	rs61752346	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:21513888C>T	uc002kuq.3	+	66	8937	c.8851C>T	c.(8851-8853)Cgt>Tgt	p.R2951C	LAMA3_uc002kur.3_Missense_Mutation_p.R2895C|LAMA3_uc002kus.4_Missense_Mutation_p.R1342C|LAMA3_uc002kut.4_Missense_Mutation_p.R1286C	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2951					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAGACTTTTCGTATCAACCA	0.483000														38			30		0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55038502	55038502	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:55038502G>A	uc001sgj.3	-	4	390	c.328C>T	c.(328-330)Cta>Tta	p.L110L	DCD_uc009znt.3_3'UTR|DCD_uc009znu.3_Non-coding_Transcript	NM_053283	NP_444513	P81605	DCD_HUMAN	Homo sapiens dermcidin (DCD), mRNA.	110					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				TACAGCTATAGTACTGAGTCA	0.393000														10			4		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932868	32932868	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:32932868C>T	uc003cff.3	+	3	2235	c.2172C>T	c.(2170-2172)atC>atT	p.I724I		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	724					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCACCGGATCCAGCTGTTTG	0.547000														15			8		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267114	107267114	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:107267114G>A	uc011lvm.2	+	0	571	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTTTGTGTGGACACCTCCCT	0.443000														59			49		0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11405611	11405611	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:11405611G>A	uc003wty.3	+	3	827	c.246G>A	c.(244-246)ggG>ggA	p.G82G		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	82	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TGCTGAAGGGGGAGAAGCTAC	0.552000														19			7		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36276361	36276361	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:36276361C>T	uc002obs.2	+	18	2062	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	ARHGAP33_uc002obr.2_Silent_p.L640L|ARHGAP33_uc002obt.2_Silent_p.L504L|ARHGAP33_uc002obv.1_Silent_p.L228L	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	640					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CGAGGAGTCTCTGTCATCGCA	0.657000														16			64		0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15519684	15519684	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:15519684C>T	uc003wwt.3	+	4	931	c.587C>T	c.(586-588)cCc>cTc	p.P196L	TUSC3_uc003wwu.3_Missense_Mutation_p.P196L	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	196					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TTCAGACCACCCAACTACTCT	0.343000														48			35		0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81555290	81555290	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:81555290G>A	uc003yby.2	-	7	1339	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	369						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CTGTGCCTCTGGGTGGGGAGG	0.507000														21			5		0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11600048	11600048	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:11600048G>A	uc010hdx.1	-	4	1279	c.873C>T	c.(871-873)tcC>tcT	p.S291S	VGLL4_uc003bwf.2_Silent_p.S285S|VGLL4_uc003bwg.2_Silent_p.S290S|VGLL4_uc010hdv.1_Silent_p.S201S|VGLL4_uc010hdw.1_Silent_p.S205S|VGLL4_uc011aun.1_Silent_p.S226S	NM_001128219	NP_001121691	Q14135	VGLL4_HUMAN	Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		CCACAGAGGGGGAGTGACTGT	0.577000														26			16		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724638	7724638	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:7724638C>T	uc001aoi.3	+	8	2238	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	677					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCATGCAGTTCCAGGCCAACT	0.642000			T	WWTR1	epitheliod hemangioendothelioma									21			87		0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045296	40045296	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:40045296C>T	uc011byr.1	-	2	854	c.360G>A	c.(358-360)aaG>aaA	p.K120K						Homo sapiens acyl-CoA thioesterase 7 pseudogene (LOC344967), non-coding RNA.																		TGCGCTCCAGCTTCTGGGTTT	0.587000														16			7		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691442	49691442	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:49691442C>T	uc003cxe.4	+	4	4567	c.4453C>T	c.(4453-4455)Ccc>Tcc	p.P1485S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1485					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCGTCTTCCCCCTCAGAGAG	0.612000														48			31		0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956562	42956562	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:42956562G>A	uc003cmk.2	+	3	1261	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	ZNF662_uc003cmi.2_Missense_Mutation_p.E333K|ZNF662_uc003cmj.2_Missense_Mutation_p.E225K	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GAAGCCTTACGAATGTAAGGA	0.493000														22			10		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108004000	108004001	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:108004000_108004001GG>AA	uc001tmk.1	+	4	2198_2199	c.1677_1678GG>AA	c.(1675-1680)ctggat>ctAAat	p.D560N	BTBD11_uc009zut.1_Missense_Mutation_p.D560N|BTBD11_uc001tmj.3_Missense_Mutation_p.D560N|BTBD11_uc001tml.1_Missense_Mutation_p.D97N	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	560						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						CTCGAAAGCTGGATGCGGTGGC	0.579000											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			49		0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78163600	78163600	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:78163600C>T	uc002jxw.1	+	5	1086	c.892C>T	c.(892-894)Cga>Tga	p.R298*	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Nonsense_Mutation_p.R298*|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Nonsense_Mutation_p.R61*|CARD14_uc010dhu.1_Nonsense_Mutation_p.R96*	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	298					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	p.R298Q(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCGGGGGAGCCGACAGGAGCT	0.697000														29			13		0	0	1	0	0
C20orf196	149840	broad.mit.edu	37	20	5843778	5843778	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:5843778G>A	uc002wmf.3	+	2	374	c.287G>A	c.(286-288)cGg>cAg	p.R96Q		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	Homo sapiens chromosome 20 open reading frame 196 (C20orf196), mRNA.	96										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GATGGCCTTCGGAAATCCCTG	0.463000														23			16		0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48153021	48153021	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:48153021C>T	uc010dbm.3	+	11	2060	c.1596C>T	c.(1594-1596)gcC>gcT	p.A532A	ITGA3_uc010dbl.3_Silent_p.A532A	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	532					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCCGCTTTGCCGGCAGTGAGT	0.657000														45			27		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62593688	62593688	+	Silent	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:62593688A>G	uc001dab.3	+	39	5202	c.5088A>G	c.(5086-5088)ggA>ggG	p.G1696G	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc009wag.3_Silent_p.G480G	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1696	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAGGAAGAGGAAGTCCCTTAG	0.428000														9			30		0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24437486	24437486	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:24437486C>T	uc003ned.1	-	20	2163	c.2052G>A	c.(2050-2052)gtG>gtA	p.V684V		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	684						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GGTGTAGGGTCACGGTCAGGA	0.577000														22			15		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196718129	196718129	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:196718129C>T	uc002utj.4	-	45	8820	c.8719G>A	c.(8719-8721)Gat>Aat	p.D2907N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2907					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						ATGAGGATATCCCCAGTCAAG	0.517000														20			7		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324318	24324318	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:24324318C>T	uc003xeb.3	+	5	509	c.396C>T	c.(394-396)ttC>ttT	p.F132F	ADAM7_uc003xea.1_Silent_p.F132F	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	132					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACAGGGGATTCTTCAGAATAA	0.373000														31			19		0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960609	7960609	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:7960609G>A	uc010rbi.2	-	0	459	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGCCACCATGATCCCTGAGA	0.428000														32			23		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107340565	107340565	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:107340565C>T	uc003vep.3	+	14	1876	c.1652C>T	c.(1651-1653)tCc>tTc	p.S551F	SLC26A4_uc011kmb.2_Missense_Mutation_p.S138F|SLC26A4_uc011kmc.2_Missense_Mutation_p.S112F|SLC26A4_uc011kmd.2_Missense_Mutation_p.S120F	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	551	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTAGATTTTCCAGTCCTATT	0.308000									Pendred syndrome					21			13		0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103949903	103949903	+	Splice_Site	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:103949903C>T	uc003hwx.4	-	11	2264	c.1392_splice	c.e11+1	p.Q464_splice	SLC9B2_uc010iln.2_Intron|SLC9B2_uc003hwy.3_Splice_Site_p.Q464_splice|SLC9B2_uc011cew.2_Splice_Site_p.Q407_splice|SLC9B2_uc011cex.1_Intron	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 (SLC9B2), nuclear gene encoding mitochondrial protein, mRNA.	464					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										ATCCATCATACCTGAACTGTG	0.323000														25			11		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50863200	50863200	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:50863200G>A	uc001jhz.2	+	11	1847	c.1694G>A	c.(1693-1695)gGa>gAa	p.G565E	CHAT_uc001jhv.1_Missense_Mutation_p.G447E|CHAT_uc001jhx.1_Missense_Mutation_p.G447E|CHAT_uc001jhy.1_Missense_Mutation_p.G447E|CHAT_uc001jia.2_Missense_Mutation_p.G483E|CHAT_uc010qgs.1_Missense_Mutation_p.G447E|JA429001_uc021pqf.1_5'Flank	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	565					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TTCCAGGAGGGACGCGTGGAC	0.587000														35			27		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705405	112705405	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:112705405G>A	uc004bei.2	+	6	1128	c.936G>A	c.(934-936)atG>atA	p.M312I	PALM2-AKAP2_uc004beg.3_Missense_Mutation_p.M280I|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.M312I|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding	p.E311*(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCGTCACCATGATTTTTATGG	0.512000														34			15		0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414226	68414226	+	RNA	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:68414226C>T	uc004aex.3	+	0		c.781C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		AGGGTGACACCCACCAGGGGT	0.547000														1			2		0	0	1	0	0
SNX29	92017	broad.mit.edu	37	16	12618688	12618688	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:12618688C>T	uc002dby.4	+	19	2370	c.1153C>T	c.(1153-1155)Ccc>Tcc	p.P385S		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	385	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CCAGCTGATGCCCTTCTTCGT	0.577000														62			31		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49422858	49422858	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:49422858C>T	uc001rta.4	-	43	14237	c.14237G>A	c.(14236-14238)cGg>cAg	p.R4746Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4746					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GATGCTGGCCCGAGGAATGAG	0.627000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				16			26		0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401503	11401503	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:11401503C>T	uc003gmq.3	-	1	450	c.127G>A	c.(127-129)Gat>Aat	p.D43N	HS3ST1_uc021xmg.1_Missense_Mutation_p.D43N	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	43						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						GCCACGCCATCGCGGACGTCA	0.692000														21			14		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94128992	94128992	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:94128992C>T	uc001ybv.1	+	38	6303	c.6220C>T	c.(6220-6222)Cag>Tag	p.Q2074*	UNC79_uc001ybs.1_Nonsense_Mutation_p.Q2052*	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2229						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						CTTTGTAATTCAGAATGCCGT	0.418000														3			10		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506566	11506566	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:11506566C>T	uc001qzw.1	-	3	505	c.468G>A	c.(466-468)aaG>aaA	p.K156K	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	157	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.597000														64			4		0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15563124	15563124	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:15563124G>A	uc003bzx.3	-	0	135	c.9C>T	c.(7-9)gtC>gtT	p.V3V	HACL1_uc011avr.1_Intron|COLQ_uc010heo.3_Silent_p.V3V|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_5'UTR	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	3					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TTGGATTCAGGACAACCATGC	0.493000														12			13		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858402	43858402	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:43858402G>A	uc010skx.2	-	9	1501	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	501	Disintegrin.					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)		ACTATATGGGGACACATTTGT	0.338000														30			11		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45706903	45706903	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr21:45706903C>T	uc002zei.2	+	2	477	c.350C>T	c.(349-351)gCc>gTc	p.A117V		NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	117					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		AAGCCCCCGGCCGTCCCCAAG	0.672000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					50			22		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677047	73677048	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:73677047_73677048CC>TT	uc002sje.1	+	7	3501_3502	c.3390_3391CC>TT	c.(3388-3393)gaccag>gaTTag	p.Q1131*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.Q1089*|ALMS1_uc002sjg.3_Nonsense_Mutation_p.Q519*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.Q519*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1131	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GACTAGCAGACCAGAAGACTGG	0.475000														87			54		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				25			48		2.29192e-23	2.33795e-23	1	1	0
HCRTR2	3062	broad.mit.edu	37	6	55113565	55113565	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:55113565G>A	uc003pcl.3	+	1	667	c.352G>A	c.(352-354)Gag>Aag	p.E118K	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.E53K	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	118					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.E118Q(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGATATCACTGAGACCTGGTT	0.428000														96			68		0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96374447	96374447	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:96374447C>T	uc001tem.1	-	16	1703	c.1406G>A	c.(1405-1407)aGa>aAa	p.R469K	HAL_uc010sux.1_Missense_Mutation_p.R469K|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.R261K	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	469					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CTCGATTCTTCTCTCACTGAT	0.517000														24			23		0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53509210	53509210	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:53509210C>T	uc001sbv.3	+	5	568	c.480C>T	c.(478-480)ttC>ttT	p.F160F	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	160					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TCTTCAGCTTCGGACAGCTGC	0.587000														26			14		0	0	1	0	0
C7orf44	55744	broad.mit.edu	37	7	43680234	43680234	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:43680234G>A	uc003tin.1	-	4	373	c.279C>T	c.(277-279)gtC>gtT	p.V93V	C7orf44_uc003tij.3_Non-coding_Transcript|C7orf44_uc010kxu.2_Non-coding_Transcript|C7orf44_uc003tio.1_Silent_p.V93V|C7orf44_uc003tip.1_Silent_p.V93V	NM_018224	NP_060694	Q9GZY4	CG044_HUMAN	Homo sapiens chromosome 7 open reading frame 44 (C7orf44), mRNA.	93						integral to membrane				large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGATCCAGAGACAGGAATCT	0.478000														17			10		0	0	1	0	0
IFNA6	3443	broad.mit.edu	37	9	21350502	21350502	+	Missense_Mutation	SNP	C	T	T	rs137921767		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:21350502C>T	uc011lni.2	-	0	385	c.385G>A	c.(385-387)Gtg>Atg	p.V129M		NM_021002	NP_066282	P05013	IFNA6_HUMAN	Homo sapiens interferon, alpha 6 (IFNA6), mRNA.	129					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GTCCCTCCCACCCACACCTCC	0.488000														37			78		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110447419	110447419	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:110447419C>T	uc003hzk.3	+	16	2884	c.2829C>T	c.(2827-2829)gtC>gtT	p.V943V	SEC24B_uc003hzl.3_Silent_p.V908V|SEC24B_uc011cfp.2_Silent_p.V973V|SEC24B_uc011cfq.2_Silent_p.V942V|SEC24B_uc011cfr.2_Silent_p.V907V	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	943					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	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACTTCTTTGTCCGTTCTACTG	0.353000														44			26		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57103219	57103219	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:57103219A>T	uc002lib.3	-	10	1212	c.1142T>A	c.(1141-1143)aTg>aAg	p.M381K	CCBE1_uc010dpq.3_Missense_Mutation_p.M110K|CCBE1_uc002lia.3_Missense_Mutation_p.M234K	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	381					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GCCCAGGTCCATGGCTTCTGG	0.542000														94			63		0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47461025	47461025	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:47461025G>A	uc003crh.1	-	12	1988	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	SCAP_uc011baz.1_Missense_Mutation_p.S323F|SCAP_uc003crg.2_Missense_Mutation_p.S186F	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	578					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGGGAAGATGGAGAAGGCAGG	0.647000														39			20		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44737297	44737297	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:44737297C>T	uc003tln.3	+	16	2433	c.2274C>T	c.(2272-2274)atC>atT	p.I758I	OGDH_uc011kbx.2_Silent_p.I754I|OGDH_uc011kby.2_Silent_p.I608I|OGDH_uc003tlp.3_Silent_p.I769I|OGDH_uc011kbz.2_Silent_p.I553I	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	758					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGTGTATCATCGACCAGTTCA	0.592000														47			34		0	0	1	0	0
UGCG	7357	broad.mit.edu	37	9	114695129	114695129	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:114695129A>G	uc004bft.3	+	8	1327	c.1037A>G	c.(1036-1038)aAa>aGa	p.K346R		NM_003358	NP_003349	Q16739	CEGT_HUMAN	Homo sapiens UDP-glucose ceramide glucosyltransferase (UGCG), mRNA.	346					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TGTTTTTCAAAACTTGATTAT	0.363000														61			32		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994738	11994738	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:11994738C>T	uc003wvc.1	-	0	1532	c.1532G>A	c.(1531-1533)aGg>aAg	p.R511K	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	511					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCTCCTGGTCCTCCCTTGCAG	0.562000														48			23		0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121989456	121989456	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:121989456G>A	uc002tmx.3	-	12	1380	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	TFCP2L1_uc010flr.3_Intron|TFCP2L1_uc010flq.3_Intron	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	429					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					AGACTCGGTGGATGTGCTGGG	0.632000														41			20		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45127279	45127279	+	Silent	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:45127279A>G	uc003com.3	-	8	2497	c.2362T>C	c.(2362-2364)Ttg>Ctg	p.L788L		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	788						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCAGTGGCCAACTTTGCAGTT	0.617000														33			25		0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970272	118970272	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:118970272C>T	uc003ksm.2	+	2	1039	c.829C>T	c.(829-831)Caa>Taa	p.Q277*	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Nonsense_Mutation_p.Q277*|FAM170A_uc003kso.3_Nonsense_Mutation_p.Q230*	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	277	Glu-rich.					intracellular	zinc ion binding	p.Q277E(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						AGAGAGCACCCaagatgagca	0.537000														21			44		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106641848	106641848	+	RNA	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:106641848C>T	uc021ser.1	-	1493		c.29537G>A								Parts of antibodies, mostly variable regions.																		ACTGCACCAGCTGAACCTGGG	0.582000														14			37		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119510976	119510976	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:119510976G>A	uc003pym.1	-	9	1841	c.1399C>T	c.(1399-1401)Ctg>Ttg	p.L467L		NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	467					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)		TTGTGCTCCAGGAGGCCCCCT	0.527000														5			10		0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234529414	234529414	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:234529414G>A	uc001hwd.3	-	26	4413	c.4413C>T	c.(4411-4413)atC>atT	p.I1471I		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1471					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCGGTTTGTCGATGAGCGAGG	0.463000														13			40		0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125772784	125772784	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:125772784C>T	uc011lzh.2	+	10	1660	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	RABGAP1_uc004bnl.4_Non-coding_Transcript	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	509					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATACCTTCTCCTCCAGAAGAT	0.438000														28			14		0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133370305	133370305	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:133370305C>T	uc010mza.3	+	13	1758	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F	ASS1_uc004bzm.3_Missense_Mutation_p.S341F|ASS1_uc004bzn.3_Missense_Mutation_p.S341F	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	341					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ATCGCCAAGTCCCAGGAGCGA	0.592000														19			12		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962444	69962444	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:69962444C>T	uc003heg.4	+	0	252	c.206C>T	c.(205-207)tCa>tTa	p.S69L	UGT2B7_uc010ihq.3_Missense_Mutation_p.S69L	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	69					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAACAACTCATCCGCTCTT	0.378000														48			25		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128445940	128445941	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:128445940_128445941CC>TT	uc003vnv.2	+	6	1490_1491	c.1074_1075CC>TT	c.(1072-1077)tcccac>tcTTac	p.H359Y	CCDC136_uc003vnu.2_Missense_Mutation_p.H397Y|CCDC136_uc003vnx.2_Missense_Mutation_p.H175Y|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_5'Flank	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	359						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TTCAGACCTCCCACAGTGTCAC	0.609000														17			14		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32772969	32772969	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:32772969A>T	uc010ezu.3	+	63	12997	c.12863A>T	c.(12862-12864)tAt>tTt	p.Y4288F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4288					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAACAGTTATATTGGGCCAAA	0.408000														13			10		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40914977	40914977	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:40914977C>T	uc010bbs.1	+	10	2754	c.2593C>T	c.(2593-2595)Cca>Tca	p.P865S	CASC5_uc010ucq.1_Missense_Mutation_p.P689S|CASC5_uc001zme.3_Missense_Mutation_p.P839S|CASC5_uc010bbt.1_Missense_Mutation_p.P839S	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	865	2 X 104 AA approximate repeats.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.P865>L(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACCTAAATTTCCAAAGGAAAA	0.328000														29			19		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85594031	85594031	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:85594031C>T	uc003hpd.3	-	67	10979	c.10571G>A	c.(10570-10572)cGa>cAa	p.R3524Q	WDFY3_uc003hpc.3_Missense_Mutation_p.R279Q	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3524						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R3524Q(2)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCAACAATTTCGAGGCCCATC	0.458000														48			33		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897274	153897274	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:153897274C>T	uc003inf.2	+	10	2906	c.2831C>T	c.(2830-2832)tCc>tTc	p.S944F		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	944					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CGCCAGAACTCCGTGCGGAGG	0.711000														19			13		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209179989	209179989	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:209179989G>A	uc002vcz.3	+	14	2057	c.1899G>A	c.(1897-1899)tgG>tgA	p.W633*	PIKFYVE_uc010fun.1_Nonsense_Mutation_p.W314*|PIKFYVE_uc002vcy.1_Nonsense_Mutation_p.W577*	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	633					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CATCATCTTGGAGGGACATCA	0.433000														20			16		0	0	1	0	0
DHDDS	79947	broad.mit.edu	37	1	26795609	26795609	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:26795609C>A	uc001bmk.3	+	8	1142	c.992C>A	c.(991-993)aCt>aAt	p.T331N	DHDDS_uc001bml.3_Missense_Mutation_p.T330N|DHDDS_uc001bmn.3_Missense_Mutation_p.T291N|DHDDS_uc010ofd.2_Missense_Mutation_p.T296N|DHDDS_uc001bmm.3_Missense_Mutation_p.T237N|AL050085_uc001bmo.1_5'Flank	NM_024887	NP_079163	Q86SQ9	DHDDS_HUMAN	Homo sapiens dehydrodolichyl diphosphate synthase (DHDDS), transcript variant 2, mRNA.	330							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		CGTCTGGGCACTGCATCAGCC	0.607000														11			49		6.3237e-29	6.45999e-29	1	1	0
LDLR	3949	broad.mit.edu	37	19	11234012	11234012	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:11234012C>T	uc002mqk.4	+	14	2490	c.2303C>T	c.(2302-2304)tCt>tTt	p.S768F	LDLR_uc010xlk.2_Missense_Mutation_p.S768F|LDLR_uc010xll.2_Missense_Mutation_p.S727F|LDLR_uc021upc.1_Missense_Mutation_p.S647F|LDLR_uc010xln.2_Missense_Mutation_p.S590F|LDLR_uc010xlo.2_Missense_Mutation_p.S600F|LDLR_uc010xlm.2_Missense_Mutation_p.S621F|LDLR_uc021upd.1_Missense_Mutation_p.S505F	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	768	Clustered O-linked oligosaccharides.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GTGACAATGTCTCACCAAGGT	0.612000														15			27		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34080639	34080639	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:34080639C>T	uc001zhi.3	+	66	9880	c.9810C>T	c.(9808-9810)atC>atT	p.I3270I	RYR3_uc010bar.3_Silent_p.I3270I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3270					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)		CCATGCTGATCCGCTACGTGG	0.547000														25			17		0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673691	125673691	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:125673691G>A	uc004bnh.3	-	1	750	c.661C>T	c.(661-663)Cat>Tat	p.H221Y	ZBTB6_uc022bnb.1_Missense_Mutation_p.H221Y	NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	Homo sapiens zinc finger and BTB domain containing 6 (ZBTB6), mRNA.	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						GATTCTACATGAAGGATACAA	0.403000														15			12		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902734	22902734	+	Missense_Mutation	SNP	G	A	A	rs142067038		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:22902734G>A	uc001bfx.1	+	2	309	c.184G>A	c.(184-186)Gag>Aag	p.E62K	EPHA8_uc001bfw.3_Missense_Mutation_p.E62K	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	62						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGAGGTGGACGAGTCCTTCCA	0.602000														25			78		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79393421	79393421	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:79393421C>T	uc003hlb.2	+	51	7899	c.7459C>T	c.(7459-7461)Cct>Tct	p.P2487S		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2486					cell communication	integral to membrane|plasma membrane	metal ion binding	p.T2486R(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AACGACGGGCCCTAAGCATGG	0.537000														11			7		0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27187309	27187309	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:27187309G>A	uc003syo.2	-	0	85	c.60C>T	c.(58-60)tcC>tcT	p.S20S	HOXA-AS3_uc003syr.2_Intron|HOXA-AS3_uc003syp.2_Intron|HOXA6_uc003syq.1_Intron	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	20						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GGCCCAAGAAGGAGTCCTGGC	0.602000														28			13		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111317014	111317014	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:111317014C>T	uc003dxw.3	+	6	1073	c.903C>T	c.(901-903)atC>atT	p.I301I	CD96_uc003dxv.3_Silent_p.I285I|CD96_uc003dxx.3_Silent_p.I285I|CD96_uc010hpy.1_Silent_p.I285I|ZBED2_uc003dxy.3_5'Flank	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	301	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AAGCAAATATCACATGGTTTA	0.318000									Opitz Trigonocephaly syndrome					47			30		0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14720310	14720310	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:14720310A>C	uc003zlj.3	-	1	627	c.582T>G	c.(580-582)caT>caG	p.H194Q		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	194	CTCK.				BMP signaling pathway	extracellular space	cytokine activity	p.H194R(1)		endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CTCCAGGAAAATGAACAGACC	0.473000														6			12		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19483659	19483659	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:19483659T>C	uc003jgd.3	-	11	2167	c.1633A>G	c.(1633-1635)Aac>Gac	p.N545D	CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Missense_Mutation_p.N545D|CDH18_uc021xwu.1_Intron	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	545	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGGCTGTGTTATCTATGATA	0.398000														1			13		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119028986	119028986	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:119028986C>T	uc001pvs.3	+	9	1447	c.1111C>T	c.(1111-1113)Ctc>Ttc	p.L371F	ABCG4_uc009zar.3_Missense_Mutation_p.L371F	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	371					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CACCAGCACCCTCACACAGTT	0.572000														61			132		0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47563740	47563740	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:47563740C>T	uc003oyw.3	+	11	1708	c.1252C>T	c.(1252-1254)Cct>Tct	p.P418S		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	418	Pro-rich.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAAACCAGTTCCTCCACCACC	0.413000														73			43		0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96129891	96129891	+	RNA	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:96129891C>T	uc001yep.1	+	5		c.1429C>T			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Intron|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Non-coding_Transcript|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CATGCTATCTCAGTTCACCTT	0.537000			T	TRA@	T-ALL									5			10		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679236	87679236	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:87679236C>T	uc003ydx.3	-	5	817	c.769G>A	c.(769-771)Gac>Aac	p.D257N	CNGB3_uc010maj.3_Missense_Mutation_p.D119N	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	257					signal transduction|visual perception	integral to membrane	cGMP binding	p.A256A(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CATATGATGTCCGCAATAAGC	0.438000														28			12		0	0	1	0	0
TPM2	7169	broad.mit.edu	37	9	35689733	35689733	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:35689733C>T	uc003zxq.3	-	0	321	c.82G>A	c.(82-84)Gac>Aac	p.D28N	TPM2_uc003zxs.3_Missense_Mutation_p.D28N|TPM2_uc010mkz.3_Missense_Mutation_p.D28N|TPM2_uc011lpa.2_Missense_Mutation_p.D28N	NM_213674	NP_998839	P07951	TPM2_HUMAN	Homo sapiens tropomyosin 2 (beta) (TPM2), transcript variant 2, mRNA.	28					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTTCTTGTCGGCTTCGGCC	0.662000														37			74		0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77021078	77021078	+	Splice_Site	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:77021078C>T	uc002bby.3	-	16	2082	c.2023_splice	c.e16-1	p.E675_splice	SCAPER_uc010bkr.3_Splice_Site|SCAPER_uc002bbx.3_Splice_Site_p.E429_splice|SCAPER_uc002bbz.1_Splice_Site_p.E546_splice|SCAPER_uc002bca.1_Splice_Site_p.E540_splice|SCAPER_uc002bcb.1_Splice_Site_p.E681_splice	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	674	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTCTTGCGTTCCTAATGTTAG	0.368000														21			8		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41076933	41076933	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:41076933C>T	uc002xkg.3	-	8	1671	c.1487G>A	c.(1486-1488)gGg>gAg	p.G496E	PTPRT_uc010ggj.3_Missense_Mutation_p.G496E	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	496	Fibronectin type-III 3.				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)				CTCAAAGGGCCCCCCTTGGAT	0.507000														58			47		0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8161740	8161740	+	Splice_Site	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:8161740C>T	uc010rbm.1	-	2	179	c.125_splice	c.e2-1	p.G42_splice	RIC3_uc001mgb.2_5'Flank|RIC3_uc010rbl.1_Splice_Site|RIC3_uc001mgd.2_Splice_Site_p.G42_splice|RIC3_uc001mgc.2_Splice_Site_p.G42_splice|RIC3_uc009yfm.2_Splice_Site_p.G42_splice|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.4_Splice_Site_p.G42_splice	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	42						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GCCCAATTTTCCTGAGAAAAT	0.428000														7			8		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2593905	2593905	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:2593905C>T	uc002wgf.1	+	13	1824	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	TMC2_uc002wgg.1_Silent_p.F587F|TMC2_uc010zpw.1_Silent_p.F435F|TMC2_uc010zpx.1_Silent_p.F434F	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	603						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGGGGGACTTCCTACGGGCTT	0.532000														24			18		0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41782115	41782115	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:41782115C>T	uc002oqb.4	+	4	987	c.698C>T	c.(697-699)cCg>cTg	p.P233L	HNRNPUL1_uc002opz.4_Missense_Mutation_p.P133L|HNRNPUL1_uc002oqa.4_Missense_Mutation_p.P133L|HNRNPUL1_uc010ehm.3_Missense_Mutation_p.P233L|HNRNPUL1_uc002oqc.4_Missense_Mutation_p.P190L|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Missense_Mutation_p.P133L|HNRNPUL1_uc010ehn.3_Missense_Mutation_p.P133L|HNRNPUL1_uc010xvy.2_Missense_Mutation_p.P133L|HNRNPUL1_uc010ehp.3_Missense_Mutation_p.P89L|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.P133L	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	233	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGTGGCTATCCGCTCACAATT	0.517000														21			90		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040854	103040854	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:103040854C>T	uc002tbx.3	+	4	1043	c.559C>T	c.(559-561)Cca>Tca	p.P187S	IL18RAP_uc010fiz.3_Missense_Mutation_p.P45S	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	187	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGCACAAAGTCCAGCGGTAAC	0.423000														49			20		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21156549	21156549	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:21156549G>A	uc010vbe.2	-	2	401	c.401C>T	c.(400-402)aCc>aTc	p.T134I	DNAH3_uc002die.2_Missense_Mutation_p.T105I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	134	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)		GACACTGATGGTGGCCGGTTG	0.547000														12			6		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72339511	72339511	+	RNA	SNP	A	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:72339511A>C	uc010lal.1	-	0		c.145T>G								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		CCACCACTCCATCTTCCTTTT	0.582000														26			3		0	0	1	0	0
AK1	203	broad.mit.edu	37	9	130630752	130630752	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:130630752G>A	uc004bsm.4	-	5	517	c.364C>T	c.(364-366)Cct>Tct	p.P122S		NM_000476	NP_000467	P00568	KAD1_HUMAN	Homo sapiens adenylate kinase 1 (AK1), mRNA.	122					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|adenylate kinase activity|protein binding			endometrium(1)|prostate(1)	2						ATGGTCTCAGGGCCTGCGTCC	0.602000														4			4		0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182853510	182853510	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:182853510C>T	uc003flh.4	-	4	1336	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	371					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CTTACCATTTCCAAAGTGGTC	0.473000														73			59		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115590950	115590950	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:115590950G>A	uc003vhj.2	-	5	746	c.493C>T	c.(493-495)Ctt>Ttt	p.L165F	TFEC_uc003vhm.2_Missense_Mutation_p.L98F|TFEC_uc003vhk.2_Missense_Mutation_p.L136F|TFEC_uc003vhl.4_Missense_Mutation_p.L136F|TFEC_uc011kmw.2_Missense_Mutation_p.L255F	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	165	Helix-loop-helix motif.					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)			TTTGGAATAAGAGTGCCAAGC	0.323000														16			11		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43372489	43372489	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:43372489C>T	uc002ovd.1	-	4	1145	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Missense_Mutation_p.R243K|PSG3_uc002ova.2_Missense_Mutation_p.R243K|PSG3_uc002ouz.2_Missense_Mutation_p.R336K|PSG3_uc002ovb.3_Missense_Mutation_p.R336K	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	336	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGGGTAAATTCTGGGGAGGTC	0.483000														13			53		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9317869	9317869	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:9317869C>T	uc001qvl.3	-	18	2382	c.2353G>A	c.(2353-2355)Ggt>Agt	p.G785S	PZP_uc009zgl.3_Missense_Mutation_p.G654S|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Missense_Mutation_p.G117S	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GAAGAGATACCAAGTCCAGCA	0.562000														28			33		0	0	1	0	0
WDR74	54663	broad.mit.edu	37	11	62602941	62602941	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:62602941C>T	uc001nvm.2	-	6	748	c.580G>A	c.(580-582)Gga>Aga	p.G194R	WDR74_uc001nvl.2_Missense_Mutation_p.G194R|WDR74_uc009yoi.2_Missense_Mutation_p.G194R|WDR74_uc010rmk.2_3'UTR	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	Homo sapiens WD repeat domain 74 (WDR74), mRNA.	194						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TTCTGTGATCCTGGGAGAAAC	0.587000														7			14		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50899620	50899620	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:50899620C>T	uc003blh.3	-	22	3130	c.2935G>A	c.(2935-2937)Gac>Aac	p.D979N	SBF1_uc011arx.2_Missense_Mutation_p.D643N|SBF1_uc003bli.2_Missense_Mutation_p.D980N	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	979					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGGAGCCCGTCCTGCAGGAGC	0.667000														16			9		0	0	1	0	0
ANKRD2	26287	broad.mit.edu	37	10	99340640	99340640	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:99340640C>T	uc001knw.3	+	4	775	c.566C>T	c.(565-567)tCc>tTc	p.S189F	ANKRD2_uc009xvu.3_Missense_Mutation_p.S189F	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	Homo sapiens ankyrin repeat domain 2 (stretch responsive muscle) (ANKRD2), transcript variant 1, mRNA.	189					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CACCGAGCTTCCCTGGAAGGC	0.602000														2			3		0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38519889	38519889	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:38519889C>T	uc003cif.3	+	4	570	c.546C>T	c.(544-546)tcC>tcT	p.S182S	ACVR2B_uc003cig.3_5'UTR	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA.	182					BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CACCACCATCCCCTCTGGTGG	0.617000														20			12		0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242265483	242265483	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:242265483C>T	uc002wbh.3	+	5	547	c.85C>T	c.(85-87)Cga>Tga	p.R29*	SEPT2_uc002wbc.3_Nonsense_Mutation_p.R29*|SEPT2_uc002wbd.3_Nonsense_Mutation_p.R29*|SEPT2_uc002wbf.3_Nonsense_Mutation_p.R29*|SEPT2_uc002wbg.3_Nonsense_Mutation_p.R29*|SEPT2_uc010zop.2_Nonsense_Mutation_p.R64*	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA.	29					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)		TCAAGTTCACCGAAAATCAGT	0.353000														20			16		0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57583408	57583408	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:57583408C>T	uc001nmc.4	+	19	3401	c.2830C>T	c.(2830-2832)Ctg>Ttg	p.L944L	CTNND1_uc001nlf.2_Intron|CTNND1_uc021qjk.1_Intron|CTNND1_uc001nlh.1_Intron|CTNND1_uc001nlj.4_Silent_p.L884L|CTNND1_uc001nlq.4_Intron|CTNND1_uc001nlr.4_Intron|CTNND1_uc001nln.4_Intron|CTNND1_uc001nli.4_Silent_p.L917L|CTNND1_uc001nlo.4_Silent_p.L837L|CTNND1_uc001nlp.4_Silent_p.L863L|CTNND1_uc001nlu.4_Intron|CTNND1_uc001nlt.4_Intron|CTNND1_uc001nlv.4_Intron|CTNND1_uc001nls.4_Silent_p.L816L|CTNND1_uc001nlw.4_Intron|CTNND1_uc001nmf.4_Intron|CTNND1_uc001nlx.4_Silent_p.L621L|CTNND1_uc001nlz.4_Intron|CTNND1_uc009ymn.3_Intron|CTNND1_uc001nly.4_Silent_p.L615L|CTNND1_uc001nmb.4_Intron|CTNND1_uc001nma.4_Silent_p.L594L|CTNND1_uc001nmd.4_Silent_p.L890L|CTNND1_uc001nlk.4_Intron|CTNND1_uc001nme.4_Silent_p.L938L|CTNND1_uc001nll.4_Intron|CTNND1_uc001nlm.4_Intron|CTNND1_uc001nmi.4_Silent_p.L843L|CTNND1_uc001nmg.4_Intron|CTNND1_uc001nmh.4_Intron	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	944					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GCAGGAATCTCTGGAGGAAGA	0.493000														2			6		0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664776	124664776	+	Silent	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:124664776A>G	uc003yqs.1	-	0	415	c.391T>C	c.(391-393)Ttg>Ctg	p.L131L		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	131										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CTGGGGGCCAACTGGCTCTGC	0.562000														25			9		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152554150	152554150	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:152554150C>T	uc021vrb.1	-	11	1194	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	NEB_uc002txu.3_Missense_Mutation_p.E389K|NEB_uc021vrc.1_Missense_Mutation_p.E389K|NEB_uc010fnx.3_Missense_Mutation_p.E389K|NEB_uc021vrd.1_Missense_Mutation_p.E389K|NEB_uc010fny.2_5'UTR	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	389					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCATAGTTTTCCTTGTATAGT	0.348000														18			16		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34158591	34158591	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:34158591G>A	uc001bxm.1	-	24	4168	c.3991C>T	c.(3991-3993)Ccc>Tcc	p.P1331S	CSMD2_uc001bxn.1_Missense_Mutation_p.P1291S|CSMD2_uc001bxo.1_Missense_Mutation_p.P204S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1291	CUB 8.					integral to membrane|plasma membrane	protein binding	p.G1331G(1)		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)				TGTTCATAGGGAGCTGGATAC	0.547000														21			108		0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74725333	74725333	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:74725333G>A	uc002fdb.2	-	3	1005	c.564C>T	c.(562-564)atC>atT	p.I188I	MLKL_uc002fdc.2_Intron	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	188							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						GCTCTTGCGGGATCTCCTGCA	0.483000														35			75		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574866	28574866	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:28574866C>T	uc003xgz.1	+	2	1883	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	430						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCTCCACCTTCGCCCTCATCA	0.602000														29			27		0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3494592	3494592	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:3494592C>T	uc010vro.2	-	1	373	c.340G>A	c.(340-342)Gat>Aat	p.D114N	TRPV1_uc010vrp.2_Missense_Mutation_p.D114N|TRPV1_uc010vrq.2_Missense_Mutation_p.M88I|TRPV1_uc010vrr.2_Missense_Mutation_p.D114N|TRPV1_uc010vrs.2_Missense_Mutation_p.D114N|TRPV1_uc010vrt.2_Missense_Mutation_p.D114N|TRPV1_uc010vru.2_Missense_Mutation_p.D114N	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	114					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTCCTGCGATCATAGAGCCTG	0.572000														8			12		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230377595	230377595	+	Missense_Mutation	SNP	C	T	T	rs146813937	by1000genomes	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:230377595C>T	uc002vpv.3	-	5	1198	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	DNER_uc010zly.1_Missense_Mutation_p.D79N	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	351	EGF-like 4.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGGCAAGCATCGTATTCTTCA	0.448000														36			25		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225563	21225563	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:21225563G>A	uc002red.3	-	28	12859	c.12731C>T	c.(12730-12732)tCc>tTc	p.S4244F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4244					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)	TTGGAAATAGGAAAACAGTAT	0.378000														39			25		0	0	1	0	0
USP1	7398	broad.mit.edu	37	1	62910742	62910742	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:62910742G>C	uc001daj.2	+	5	1219	c.891G>C	c.(889-891)caG>caC	p.Q297H	USP1_uc001dak.2_Missense_Mutation_p.Q297H|USP1_uc001dal.2_Missense_Mutation_p.Q297H	NM_001017415	NP_003359	O94782	UBP1_HUMAN	Homo sapiens ubiquitin specific peptidase 1 (USP1), transcript variant 2, mRNA.	297					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AAGAGAACCAGAGACAAACTA	0.348000														12			25		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167895974	167895974	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:167895974C>T	uc003lzu.3	+	22	3387	c.3294C>T	c.(3292-3294)ttC>ttT	p.F1098F	WWC1_uc003lzv.3_Silent_p.F1103F|WWC1_uc011den.2_Silent_p.F1104F|WWC1_uc003lzw.3_Silent_p.F896F	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	1098	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.F1098F(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGGCATTTTTCACCCGGCCTC	0.478000														5			13		0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116812406	116812406	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:116812406G>A	uc004bid.3	+	14	2923	c.2824G>A	c.(2824-2826)Gat>Aat	p.D942N	ZNF618_uc004bic.3_Missense_Mutation_p.D849N|ZNF618_uc011lxi.2_Missense_Mutation_p.D909N|ZNF618_uc011lxj.2_Missense_Mutation_p.D910N|ZNF618_uc010mvb.3_Missense_Mutation_p.D532N	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	942					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CAGTCCAGAAGATATGAATAA	0.448000														51			24		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442314	138442314	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:138442314G>A	uc003ihe.4	-	3	3664	c.3277C>T	c.(3277-3279)Cct>Tct	p.P1093S	PCDH18_uc003ihf.4_Missense_Mutation_p.P1085S|PCDH18_uc011cgz.2_Missense_Mutation_p.P304S|PCDH18_uc003ihg.4_Missense_Mutation_p.P872S|PCDH18_uc011cha.2_Missense_Mutation_p.P273S	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1093	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)					TAATTTTCAGGGATCTCCTCC	0.478000														12			10		0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3687883	3687883	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:3687883C>T	uc002qya.3	+	4	438	c.290C>T	c.(289-291)tCc>tTc	p.S97F	COLEC11_uc002qxz.3_Missense_Mutation_p.S94F|COLEC11_uc002qyb.3_Missense_Mutation_p.S73F|COLEC11_uc002qyc.3_Missense_Mutation_p.S73F|COLEC11_uc010ewo.3_Missense_Mutation_p.S49F|COLEC11_uc010ewp.3_Missense_Mutation_p.S71F|COLEC11_uc010ewq.3_Missense_Mutation_p.S47F|COLEC11_uc010ewr.3_Missense_Mutation_p.S47F|COLEC11_uc010ews.3_Missense_Mutation_p.S23F	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.	97	Collagen-like.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		AAAGGAGATTCCGGTGACATA	0.378000														22			10		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763237	77763237	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:77763237G>A	uc003yau.2	+	9	4467	c.4080G>A	c.(4078-4080)tgG>tgA	p.W1360*	ZFHX4_uc003yaw.1_Nonsense_Mutation_p.W1315*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1315						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W1360L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTCAGAATGGAATAAAAATA	0.423000										HNSCC(33;0.089)				21			11		0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146071774	146071774	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:146071774G>A	uc003ika.4	-	12	1093	c.955C>T	c.(955-957)Cct>Tct	p.P319S		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	383							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTCCTGAAGGATGCTGCAGT	0.463000														38			15		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152544146	152544146	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:152544146G>A	uc021vrb.1	-	23	2546	c.2517C>T	c.(2515-2517)acC>acT	p.T839T	NEB_uc002txu.3_Silent_p.T839T|NEB_uc021vrc.1_Silent_p.T839T|NEB_uc010fnx.3_Silent_p.T839T|NEB_uc021vrd.1_Silent_p.T839T	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	839					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACATCGCTGGTGTTCTTGG	0.532000														12			11		0	0	1	0	0
C6orf201	404220	broad.mit.edu	37	6	4099326	4099326	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:4099326C>T	uc003mwa.4	+	2	946	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	C6orf201_uc003mvz.4_Non-coding_Transcript|C6orf201_uc011dhw.1_Missense_Mutation_p.P60S|C6orf201_uc003mwb.4_Non-coding_Transcript	NM_001085401	NP_001078870	Q7Z4U5	CF201_HUMAN	Homo sapiens chromosome 6 open reading frame 201 (C6orf201), mRNA.	60										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GAACAGAATGCCCCCGTGGAA	0.428000														34			17		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603399	101603399	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:101603399G>A	uc001thz.4	-	0	618	c.228C>T	c.(226-228)tcC>tcT	p.S76S		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	76					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.P75P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGTAGACCTCGGAGGGGGTGC	0.587000														27			19		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24535366	24535366	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:24535366C>T	uc003jgr.2	-	4	1175	c.669G>A	c.(667-669)ccG>ccA	p.P223P	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	223	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P223P(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGTTCATGTTCGGTAAAGCAG	0.403000										HNSCC(23;0.051)				11			19		0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	43979659	43979659	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:43979659T>A	uc002own.4	-	15	2085	c.1826A>T	c.(1825-1827)tAc>tTc	p.Y609F	PHLDB3_uc010eit.3_Missense_Mutation_p.Y279F	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	609	PH.									breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				AAGGCGTTCGTAGGTTTTGAC	0.572000														6			22		0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83838899	83838899	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:83838899C>T	uc003hnt.2	+	4	1653	c.1534C>T	c.(1534-1536)Cgt>Tgt	p.R512C	THAP9_uc003hns.1_Missense_Mutation_p.R368C|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Missense_Mutation_p.R229C	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	512							DNA binding|metal ion binding	p.L511fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CCATTTTTTACGTTTAATTAA	0.363000														77			51		0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94934315	94934315	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:94934315C>T	uc011lgn.2	+	1	254	c.205C>T	c.(205-207)Cct>Tct	p.P69S	PDP1_uc003ygf.3_Missense_Mutation_p.P35S|PDP1_uc003yge.3_Missense_Mutation_p.P10S|PDP1_uc010max.3_Missense_Mutation_p.P35S|PDP1_uc011lgm.2_Missense_Mutation_p.P10S|PDP1_uc022ayg.1_Missense_Mutation_p.P10S	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	10					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	p.P10S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						ACTGTTTTTTCCTCTCATCCG	0.473000														34			15		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754633	76754633	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:76754633C>T	uc002lmt.3	+	1	2642	c.2642C>T	c.(2641-2643)tCg>tTg	p.S881L	SALL3_uc010dra.3_Missense_Mutation_p.S488L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	881					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GACTCCTCGTCGGCCGTGGGC	0.692000														26			19		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88814052	88814052	+	Silent	SNP	C	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:88814052C>A	uc010iko.1	+	2	885	c.885C>A	c.(883-885)atC>atA	p.I295I						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		AGAACAACATCAAACTGTATG	0.438000														51			24		1.64293e-13	1.66163e-13	1	1	0
ATF7IP	55729	broad.mit.edu	37	12	14650601	14650601	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:14650601C>T	uc001rbw.3	+	14	3565	c.3407C>T	c.(3406-3408)cCc>cTc	p.P1136L	ATF7IP_uc001rbx.3_Missense_Mutation_p.P1135L|ATF7IP_uc001rby.4_Missense_Mutation_p.P1136L|ATF7IP_uc001rca.3_Missense_Mutation_p.P1136L	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	1136					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CCCCCACGCCCCGTGCACCCA	0.483000														34			15		0	0	1	0	0
INPP5K	51763	broad.mit.edu	37	17	1399994	1399995	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:1399994_1399995GG>AT	uc002fsr.3	-	8	1455_1456	c.1066_1067CC>AT	c.(1066-1068)ccc>ATc	p.P356I	INPP5K_uc002fss.3_Missense_Mutation_p.P280I|INPP5K_uc002fsq.3_Missense_Mutation_p.P280I|INPP5K_uc010cjr.3_Missense_Mutation_p.P280I|INPP5K_uc010vql.2_Missense_Mutation_p.P264I|INPP5K_uc010vqm.2_Missense_Mutation_p.P260I	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.	356	Required for ruffle localization.				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CGGGCTGCTGGGGAAGTCCGAG	0.584000														6			12		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101168388	101168388	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:101168388C>T	uc004ays.3	-	7	1732	c.1272G>A	c.(1270-1272)ggG>ggA	p.G424G		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	424				G -> E (in Ref. 5; AAD30389).	negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ATTTAATGGTCCCCATTCTCT	0.333000														19			16		0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9746673	9746673	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:9746673C>T	uc021wst.1	+	3	426	c.255C>T	c.(253-255)ttC>ttT	p.F85F	CPNE9_uc003bsd.3_Silent_p.F85F	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	85	C2 1.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					ATCTGCGCTTCGATGTGTGAG	0.607000														8			6		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48756111	48756111	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:48756111C>T	uc001zwx.2	-	40	5445	c.5050G>A	c.(5050-5052)Gga>Aga	p.G1684R	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1684	EGF-like 28; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		caattatttcccccattcact	0.453000														9			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106926373	106926373	+	RNA	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:106926373G>A	uc021ser.1	-	325		c.11495C>T								Parts of antibodies, mostly variable regions.																		GGAGCTTGACGGACCCAGTGC	0.557000														64			44		0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101891	81101891	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:81101891G>A	uc001szf.2	+	0	484	c.393G>A	c.(391-393)gtG>gtA	p.V131V		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	131	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.K130K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TGCCCAAGGTGGAGATTCTGC	0.612000														36			20		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58118610	58118610	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:58118610G>A	uc003djj.2	+	25	4631	c.4466G>A	c.(4465-4467)gGa>gAa	p.G1489E	FLNB_uc010hne.2_Missense_Mutation_p.G1520E|FLNB_uc003djk.2_Missense_Mutation_p.G1489E|FLNB_uc010hnf.2_Missense_Mutation_p.G1489E|FLNB_uc003djl.2_Missense_Mutation_p.G1320E|FLNB_uc003djm.2_Missense_Mutation_p.G1320E	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1489	Interaction with FBLP1.				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)		TCTCAGGAGGGACCTTACATG	0.502000														15			9		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233793	21233793	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:21233793G>A	uc002red.3	-	25	6075	c.5947C>T	c.(5947-5949)Ctc>Ttc	p.L1983F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1983					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)	TGGGTCTTGAGTTTCCAGGTG	0.463000														35			23		0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43119538	43119538	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:43119538G>A	uc009vwk.1	+	15	2301	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K	CCDC30_uc001chm.2_Missense_Mutation_p.E429K|CCDC30_uc001chn.2_Missense_Mutation_p.E520K	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	731										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TCAAGAGACTGAAGAGATCAA	0.393000														8			32		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17895003	17895004	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:17895003_17895004CC>TT	uc002nhg.3	+	24	2464_2465	c.2185_2186CC>TT	c.(2185-2187)ccc>TTc	p.P729F	FCHO1_uc010ebb.2_Missense_Mutation_p.P729F|FCHO1_uc002nhh.2_Missense_Mutation_p.P729F|FCHO1_uc010xpw.1_Missense_Mutation_p.P679F	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	729										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						AGAGCAGAACCCCACTGCCTCC	0.644000											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			14		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32354689	32354690	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:32354689_32354690CC>TT	uc002wzy.3	+	8	1275_1276	c.1255_1256CC>TT	c.(1255-1257)ccc>TTc	p.P419F	ZNF341_uc002wzx.3_Missense_Mutation_p.P412F|ZNF341_uc010geq.3_Missense_Mutation_p.P329F|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TGCGCCACAGCCCCAGGCCTTG	0.634000														101			75		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561395	9561395	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:9561395G>A	uc002wnl.2	-	4	932	c.387C>T	c.(385-387)tcC>tcT	p.S129S	PAK7_uc002wnk.2_Silent_p.S129S|PAK7_uc002wnj.2_Silent_p.S129S|PAK7_uc010gby.1_Silent_p.S129S	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	129	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGGAATACTGGGAGAAGGTGA	0.527000														94			57		0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36093645	36093645	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:36093645C>T	uc002hok.4	-	2	935	c.714G>A	c.(712-714)tgG>tgA	p.W238*	HNF1B_uc021tvu.1_Nonsense_Mutation_p.W8*|HNF1B_uc010wdi.2_Nonsense_Mutation_p.W212*|HNF1B_uc021tvv.1_Nonsense_Mutation_p.W238*|HNF1B_uc021tvw.1_Nonsense_Mutation_p.W212*|HNF1B_uc010cve.1_Nonsense_Mutation_p.W46*	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	238					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.W238*(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			ACGCGGGCCCCCATTTGAACC	0.562000														17			42		0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417759	40417759	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:40417759C>T	uc003ayk.1	+	3	1339	c.1245C>T	c.(1243-1245)tcC>tcT	p.S415S		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	415										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AGCCCAAATCCCGAGAGGCAC	0.667000														19			11		0	0	1	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76968644	76968644	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:76968644G>A	uc002jwh.3	-	5	951	c.772C>T	c.(772-774)Cag>Tag	p.Q258*	LGALS3BP_uc002jwi.3_Nonsense_Mutation_p.Q64*	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA.	258					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGGGCATCTGGAACGAGGGG	0.627000														29			17		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71155354	71155354	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:71155354C>A	uc001swi.2	-	3	938	c.524G>T	c.(523-525)gGa>gTa	p.G175V	PTPRR_uc010stq.2_Missense_Mutation_p.G63V	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	175					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ATCAGAAATTCCTGTTTTTCG	0.343000														59			31		8.16721e-17	8.29555e-17	1	1	0
ZNF514	84874	broad.mit.edu	37	2	95815791	95815791	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:95815791G>A	uc002sud.1	-	4	1029	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F	ZNF514_uc002sue.1_Missense_Mutation_p.L147F	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	Homo sapiens zinc finger protein 514 (ZNF514), mRNA.	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TCTCTGCTAAGGGTGGTGGCA	0.428000														40			23		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151112551	151112551	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:151112551G>A	uc001ewv.3	-	3	470	c.134C>T	c.(133-135)tCc>tTc	p.S45F	SEMA6C_uc001ewu.3_Missense_Mutation_p.S45F|SEMA6C_uc001eww.3_Missense_Mutation_p.S45F|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	45	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGAAACCAGGATAATGGGGA	0.542000														12			6		0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2218111	2218111	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:2218111G>A	uc002cow.3	+	3	272	c.173G>A	c.(172-174)aGg>aAg	p.R58K		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	58					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CAGCACTGCAGGACACCCTCC	0.672000														15			15		0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27450034	27450034	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:27450034C>T	uc001itm.3	+	3	1079	c.476C>T	c.(475-477)cCg>cTg	p.P159L	MASTL_uc001itl.3_Missense_Mutation_p.P159L|MASTL_uc009xkw.2_Missense_Mutation_p.P159L|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	159	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACTTGAAACCGGACAATATG	0.333000														32			13		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34076762	34076762	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:34076762C>T	uc001bxm.1	-	40	6399	c.6222G>A	c.(6220-6222)atG>atA	p.M2074I	CSMD2_uc001bxn.1_Missense_Mutation_p.M2034I|CSMD2_uc001bxo.1_Missense_Mutation_p.M947I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2034	CUB 12.					integral to membrane|plasma membrane	protein binding	p.Y2073C(1)		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)				ATCTTCCCATCATGCGGCTGG	0.567000														12			15		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70351077	70351077	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:70351077C>T	uc003hek.4	-	4	1206	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	UGT2B4_uc011cap.2_Missense_Mutation_p.G251R|UGT2B4_uc003hel.4_Intron	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	387				EAIYHG -> KAISPR (in Ref. 1; CAA68415).	estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATAGGGATTCCATGGTAGATT	0.433000														76			61		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789652	130789652	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:130789652G>A	uc003ysr.3	-	1	1064	c.182C>T	c.(181-183)tCc>tTc	p.S61F		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	61						mitochondrion		p.S61F(2)|p.S61S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GTCATTGAGGGAGAATTCAAC	0.428000														23			16		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21747413	21747413	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:21747413G>A	uc003svc.3	+	40	6695	c.6664G>A	c.(6664-6666)Ggt>Agt	p.G2222S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2222	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAACTCTTTGGTTTCATACA	0.378000									Kartagener syndrome					13			6		0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20803331	20803331	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:20803331C>T	uc010vba.2	+	10	1496	c.1421C>T	c.(1420-1422)cCt>cTt	p.P474L	ACSM3_uc002dhr.3_Missense_Mutation_p.P445L|ERI2_uc002dhs.3_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	445					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CAGGATAATCCTTCAAAAACA	0.368000														33			23		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31477723	31477723	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:31477723T>G	uc010vfn.2	+	7	2730	c.2606T>G	c.(2605-2607)tTc>tGc	p.F869C	ARMC5_uc010vfo.2_Missense_Mutation_p.F806C|ARMC5_uc002ecc.3_Missense_Mutation_p.F774C|ARMC5_uc002eca.4_3'UTR|ARMC5_uc002ecb.2_3'UTR|ARMC5_uc010vfp.2_Missense_Mutation_p.F582C	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	774							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCCCCTTTCTTCCGGGCCCTG	0.677000														10			10		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90503026	90503026	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:90503026G>A	uc004app.4	+	3	3659	c.3624G>A	c.(3622-3624)agG>agA	p.R1208R		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1208						integral to membrane											AGGCCCACAGGAGGCCCAGAA	0.642000														8			5		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27695224	27695224	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:27695224G>A	uc002rku.3	-	14	1468	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L	IFT172_uc002rkv.3_Silent_p.L447L|IFT172_uc010yls.2_Silent_p.L452L|IFT172_uc010ezc.3_Silent_p.L473L	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	473					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)					CCACCAATCAGATCCACTATA	0.463000														28			28		0	0	1	0	0
FKTN	2218	broad.mit.edu	37	9	108366510	108366510	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:108366510G>A	uc004bcr.3	+	5	600	c.384G>A	c.(382-384)cgG>cgA	p.R128R	FKTN_uc011lvx.2_Silent_p.R128R|FKTN_uc004bcs.3_Silent_p.R128R|FKTN_uc011lvy.2_Silent_p.R128R|FKTN_uc010mtm.3_5'UTR	NM_001079802	NP_006722	O75072	FKTN_HUMAN	Homo sapiens fukutin (FKTN), transcript variant 1, mRNA.	128					muscle organ development|negative regulation of JNK cascade|negative regulation of cell proliferation|nervous system development|regulation of protein glycosylation	Golgi membrane|cis-Golgi network|endoplasmic reticulum|extracellular space|integral to membrane|nucleus	transferase activity	p.R128R(2)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GCTGGTTTCGGATAGCTGAGA	0.408000														37			16		0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12866516	12866516	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:12866516G>A	uc002mux.3	+	5	802	c.802G>A	c.(802-804)Gac>Aac	p.D268N		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	268					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CAAAGACCACGACCTAGACCT	0.587000														10			22		0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126176341	126176341	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:126176341T>G	uc003qai.3	+	2	595	c.226T>G	c.(226-228)Tta>Gta	p.L76V	NCOA7_uc010kes.3_Missense_Mutation_p.L76V|NCOA7_uc003qae.4_Missense_Mutation_p.L76V|NCOA7_uc010ket.3_Intron|NCOA7_uc003qah.3_Missense_Mutation_p.L76V|NCOA7_uc003qaf.3_Missense_Mutation_p.L76V|NCOA7_uc003qag.3_Missense_Mutation_p.L76V|NCOA7_uc003qaj.3_Missense_Mutation_p.L76V	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	76					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AAGTAATCAGTTAAAGGAGAT	0.318000														18			44		0	0	1	0	0
ZNF76	7629	broad.mit.edu	37	6	35255538	35255538	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:35255538G>A	uc003oki.1	+	4	553	c.348G>A	c.(346-348)gaG>gaA	p.E116E	ZNF76_uc011dsy.1_Silent_p.E116E|ZNF76_uc011dsz.1_Silent_p.E116E|ZNF76_uc003okj.1_Silent_p.E116E|ZNF76_uc011dsx.2_Silent_p.E116E	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	116					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TACAGACAGAGGTGGGCTTGG	0.617000														18			10		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411327	126411327	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:126411327C>T	uc003ifj.4	+	16	13350	c.13350C>T	c.(13348-13350)acC>acT	p.T4450T	FAT4_uc011cgp.2_Silent_p.T2691T|FAT4_uc003ifi.1_Silent_p.T1927T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4450	EGF-like 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P4449L(1)|p.A4450V(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCGGCTTCACCTGTAGCTGCC	0.617000														37			36		0	0	1	0	0
TMEM186	25880	broad.mit.edu	37	16	8889845	8889845	+	Silent	SNP	G	A	A	rs143358812		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:8889845G>A	uc002cze.3	-	1	640	c.606C>T	c.(604-606)ttC>ttT	p.F202F	PMM2_uc002czf.4_5'Flank|PMM2_uc010uyf.2_5'Flank|PMM2_uc010uyg.2_5'Flank|PMM2_uc010uyh.2_5'Flank|PMM2_uc010buj.3_5'Flank|PMM2_uc010uyi.2_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	Homo sapiens transmembrane protein 186 (TMEM186), mRNA.	202						integral to membrane|mitochondrion		p.R201H(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						ACACCTGTGTGAAACGCTCTC	0.557000														72			36		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42857929	42857929	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:42857929C>T	uc002otl.4	+	20	4198	c.3563C>T	c.(3562-3564)gCc>gTc	p.A1188V	MEGF8_uc002otm.4_Missense_Mutation_p.A796V	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1255	Laminin EGF-like 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTCCCCAGGGCCGGTGGTTCC	0.677000														5			15		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121746841	121746841	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:121746841G>A	uc010flp.3	+	12	3381	c.3351G>A	c.(3349-3351)gtG>gtA	p.V1117V	GLI2_uc002tmq.1_Silent_p.V789V|GLI2_uc002tmr.1_Silent_p.V772V|GLI2_uc002tmt.4_Silent_p.V789V|GLI2_uc002tmu.4_Silent_p.V772V	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1117					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACTCCAACGTGGGCCCCTCCG	0.617000														41			26		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42729787	42729787	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:42729787G>A	uc003clv.1	+	1	1406	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	436								p.Y435C(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CATGTGCTACGACAGGCTGTG	0.637000														20			15		0	0	1	0	0
C15orf23	90417	broad.mit.edu	37	15	40675132	40675132	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	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														45			37		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67231792	67231792	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:67231792C>T	uc002lkl.3	+	1	333	c.136C>T	c.(136-138)Cca>Tca	p.P46S		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	46	PH.						insulin receptor binding	p.P46S(2)		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)				AGAAAAATTTCCAGATGAAAA	0.418000														19			14		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40034120	40034120	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:40034120G>A	uc002xka.1	-	36	7439	c.7261C>T	c.(7261-7263)Cca>Tca	p.P2421S	CHD6_uc002xjz.1_5'UTR	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2421					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)				TTGTTTTCTGGAAGAAACCCC	0.567000														22			4		0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433930	73433930	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:73433930G>A	uc003dpl.1	-	9	1883	c.1787C>T	c.(1786-1788)tCc>tTc	p.S596F	PDZRN3_uc011bgh.1_Missense_Mutation_p.S253F|PDZRN3_uc010hoe.1_Missense_Mutation_p.S294F|PDZRN3_uc021xaq.1_5'UTR|PDZRN3_uc011bgf.1_Missense_Mutation_p.S313F|PDZRN3_uc011bgg.1_Missense_Mutation_p.S316F	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	596							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)		CGGGTTGGAGGATGCGGTGGC	0.637000														40			22		0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31622896	31622896	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:31622896C>T	uc010zuc.2	+	4	462	c.462C>T	c.(460-462)ccC>ccT	p.P154P	BPIFB6_uc010zud.2_Silent_p.P93P	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	154						extracellular region	lipid binding										GCATGCTCCCCAAGATGGTCA	0.577000														23			6		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141217	143141217	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:143141217G>A	uc011ktg.2	+	0	672	c.672G>A	c.(670-672)agG>agA	p.R224R	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	224					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GAAGACACAGGAAGAAGGCTC	0.458000														53			26		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139911698	139911699	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:139911698_139911699GG>AA	uc004ckm.1	-	17	2639_2640	c.2589_2590CC>TT	c.(2587-2592)atccga>atTTga	p.R864*	ABCA2_uc022bpy.1_Nonsense_Mutation_p.R765*|ABCA2_uc022bpz.1_Nonsense_Mutation_p.R835*|ABCA2_uc011mem.1_Nonsense_Mutation_p.R834*|ABCA2_uc004ckl.1_Nonsense_Mutation_p.R765*|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	834					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCTCCTCTCGGATCGCCACGT	0.649000														31			26		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113933969	113933969	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:113933969G>A	uc003ynu.3	-	9	1679	c.1520C>T	c.(1519-1521)aCt>aTt	p.T507I	CSMD3_uc003ynt.3_Missense_Mutation_p.T467I|CSMD3_uc011lhx.2_Missense_Mutation_p.T403I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	507	Sushi 2.					integral to membrane|plasma membrane		p.T507N(2)|p.T467N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAACTGCACAGTTGATCCAAG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				34			12		0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:12187475C>G	uc002mtb.2	+	3	1683	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_uc010dym.1_Missense_Mutation_p.H357D	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H514D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408000														53			5		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17772199	17772199	+	Silent	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:17772199A>G	uc003ncg.4	-	36	4576	c.4416T>C	c.(4414-4416)ccT>ccC	p.P1472P	KIF13A_uc003ncf.3_Silent_p.P1459P|KIF13A_uc003nch.4_Silent_p.P1472P|KIF13A_uc003nci.4_Silent_p.P1459P|KIF13A_uc003nce.2_Silent_p.P58P	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1472					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCTCTTTTACAGGCATTAGGG	0.463000														100			54		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21092985	21092985	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:21092985C>T	uc010vbe.2	-	19	2941	c.2941G>A	c.(2941-2943)Gaa>Aaa	p.E981K		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	981	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)		AATCCAAATTCGAGCATATTT	0.428000														90			88		0	0	1	0	0
FZD3	7976	broad.mit.edu	37	8	28384774	28384774	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:28384774C>A	uc003xgx.3	+	4	1026	c.497C>A	c.(496-498)cCc>cAc	p.P166H	FZD3_uc010lvb.3_Missense_Mutation_p.P166H	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	166					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TTTTGGTGTCCCCGAGAGTTA	0.448000														63			35		1.21669e-08	1.22531e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179411202	179411202	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:179411202C>T	uc021vsy.1	-	290	87377	c.87152G>A	c.(87151-87153)cGa>cAa	p.R29051Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22746Q|TTN_uc021vta.1_Missense_Mutation_p.R22679Q|TTN_uc021vtb.1_Missense_Mutation_p.R22554Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29978	Fibronectin type-III 111.						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)			ACCGTGTAATCGGGCATCCAG	0.413000														9			7		0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139802543	139802543	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:139802543C>T	uc004cjv.3	+	4	445	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	TRAF2_uc010nbu.3_Missense_Mutation_p.P130S|TRAF2_uc010nbv.1_Missense_Mutation_p.P182S|TRAF2_uc011mek.2_Missense_Mutation_p.P119S|TRAF2_uc010nbw.3_Missense_Mutation_p.P130S	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	130					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|protein K63-linked ubiquitination|protein autoubiquitination|protein homotrimerization|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		AGGCCGCTGCCCGCTCATGCT	0.627000														49			23		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50467960	50467960	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:50467960G>A	uc003tow.4	+	7	1350	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	IKZF1_uc022acq.1_Missense_Mutation_p.D256N|IKZF1_uc003tpa.4_Missense_Mutation_p.D164N|IKZF1_uc022acr.1_Missense_Mutation_p.D174N|IKZF1_uc022acs.1_Missense_Mutation_p.D129N|IKZF1_uc022act.1_Missense_Mutation_p.D302N|IKZF1_uc022acu.1_Missense_Mutation_p.D312N|IKZF1_uc003tox.4_Missense_Mutation_p.D357N|IKZF1_uc022acv.1_Missense_Mutation_p.D260N|IKZF1_uc022acw.1_Missense_Mutation_p.D270N|IKZF1_uc022acx.1_Missense_Mutation_p.D312N|IKZF1_uc022acy.1_Missense_Mutation_p.D206N|IKZF1_uc022acz.1_Missense_Mutation_p.D216N|IKZF1_uc011kck.2_Missense_Mutation_p.D312N|IKZF1_uc003toy.4_Missense_Mutation_p.D357N|IKZF1_uc003toz.4_Missense_Mutation_p.D369N|IKZF1_uc010kyx.3_Missense_Mutation_p.D139N	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	399					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGACTCCACGGACACCGAGAG	0.657000			"""D,T"""	BCL6	"""ALL, DLBCL"""									7			6		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131848993	131848993	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:131848993C>T	uc003vra.4	-	23	4637	c.4408G>A	c.(4408-4410)Gag>Aag	p.E1470K		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1470						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGCCCTTCTCCATCTGCTGC	0.587000														23			18		0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136263182	136263182	+	Splice_Site	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:136263182G>A	uc004cdk.3	+	11	1142	c.1081_splice	c.e11+1	p.G361_splice	C9orf96_uc004cdl.3_Intron	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	361							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGATCAGCTAGGTAGGCCCCA	0.627000														17			9		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871981	8871981	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:8871981G>A	uc002qzc.2	-	29	4367	c.4185C>T	c.(4183-4185)tcC>tcT	p.S1395S	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.S1296S|KIDINS220_uc002qzb.2_Silent_p.S249S	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1395					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCTAACTGGGACATCTGAG	0.453000														61			53		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72961876	72961876	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:72961876G>A	uc001xna.4	+	12	1394	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	RGS6_uc021rvv.1_Missense_Mutation_p.E256K|RGS6_uc010ttn.2_Missense_Mutation_p.E291K|RGS6_uc021rvw.1_Missense_Mutation_p.E291K|RGS6_uc021rvx.1_Missense_Mutation_p.E291K|RGS6_uc021rvy.1_Intron|RGS6_uc021rvz.1_Intron|RGS6_uc001xmy.4_Missense_Mutation_p.E291K|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.E291K|RGS6_uc021rwa.1_Intron|RGS6_uc021rwb.1_Intron|RGS6_uc010ttp.1_Missense_Mutation_p.E222K|RGS6_uc021rwc.1_Missense_Mutation_p.E152K	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	291	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TGCCTACACGGAACAATATGT	0.428000														13			25		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43319386	43319386	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr21:43319386G>A	uc002yzw.3	-	12	1888	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F	C2CD2_uc002yzs.3_Missense_Mutation_p.S18F|C2CD2_uc002yzt.3_Missense_Mutation_p.S165F|C2CD2_uc002yzu.3_Missense_Mutation_p.S381F|C2CD2_uc002yzv.3_Missense_Mutation_p.S394F	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	549						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTCCGGATGGGATGGGGCGTC	0.672000														23			14		0	0	1	0	0
C8orf58	541565	broad.mit.edu	37	8	22458639	22458639	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:22458639C>T	uc003xce.3	+	1	405	c.285C>T	c.(283-285)tcC>tcT	p.S95S	C8orf58_uc011kzl.2_Silent_p.S95S|C8orf58_uc003xcf.3_Silent_p.S95S	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	Homo sapiens chromosome 8 open reading frame 58 (C8orf58), transcript variant 1, mRNA.	95										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		ACTTTGAATCCTCAGGGAGTT	0.662000														9			9		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770740	37770740	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:37770740C>T	uc003asq.4	-	2	1621	c.835G>A	c.(835-837)Gag>Aag	p.E279K	ELFN2_uc021wph.1_Missense_Mutation_p.E279K	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	279						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)					GAAAGGATCTCGTCGGGGTTG	0.692000														26			27		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546766	9546766	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:9546766G>A	uc002wnl.2	-	5	1801	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	PAK7_uc002wnk.2_Missense_Mutation_p.S419F|PAK7_uc002wnj.2_Missense_Mutation_p.S419F|PAK7_uc010gby.1_Missense_Mutation_p.S419F	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	419	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGGTCGGAGGAGGAGCCCCA	0.642000														41			22		0	0	1	0	0
GPC2	221914	broad.mit.edu	37	7	99773899	99773900	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:99773899_99773900GG>AA	uc003utv.3	-	1	423_424	c.255_256CC>TT	c.(253-258)ttccga>ttTTga	p.R86*	GPC2_uc010lgr.3_Non-coding_Transcript|GPC2_uc003utw.1_Nonsense_Mutation_p.R86*|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	86						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCAGGCCTCGGAAGGTGGCCT	0.594000														17			7		0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58301395	58301395	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:58301395A>G	uc002ene.3	+	6	875	c.796A>G	c.(796-798)Aag>Gag	p.K266E	CCDC113_uc010vid.2_Missense_Mutation_p.K212E	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	266						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CAAGCTTCACAAGGCAATGGA	0.408000														14			17		0	0	1	0	0
SSB	6741	broad.mit.edu	37	2	170662013	170662013	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:170662013G>A	uc002ufk.3	+	2	270	c.96G>A	c.(94-96)cgG>cgA	p.R32R	SSB_uc002ufm.3_Silent_p.R32R	NM_003142	NP_003133	P05455	LA_HUMAN	Homo sapiens Sjogren syndrome antigen B (autoantigen La) (SSB), mRNA.	32	HTH La-type RNA-binding.				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATTTGCCACGGGACAAGTTTC	0.338000														23			10		0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10188710	10188710	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:10188710G>A	uc004csy.4	+	11	2415	c.1985G>A	c.(1984-1986)aGa>aAa	p.R662K	CLCN4_uc011mid.2_Missense_Mutation_p.R568K	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	662	CBS 1.					early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGAACGCCAGACAGAGGCAG	0.572000														10			39		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50051941	50051941	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:50051941G>A	uc004dox.4	+	5	1070	c.772G>A	c.(772-774)Gag>Aag	p.E258K	CCNB3_uc004doy.3_Missense_Mutation_p.E258K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	258					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAATATGGAAGAGGATTCCTT	0.418000														5			12		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201187757	201187757	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:201187757C>T	uc001gwc.3	+	17	9999	c.9869C>T	c.(9868-9870)tCg>tTg	p.S3290L	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGACCTCCATCGGATGCTGTC	0.632000														6			27		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718687	25718687	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:25718687C>T	uc003xes.2	-	12	1485	c.1220G>A	c.(1219-1221)aGg>aAg	p.R407K	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	407					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GCTGGGATTCCTGGGGACGCT	0.522000														39			35		0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47460867	47460867	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:47460867G>A	uc003crh.1	-	12	2146	c.1891C>T	c.(1891-1893)Cgc>Tgc	p.R631C	SCAP_uc011baz.1_Missense_Mutation_p.R376C|SCAP_uc003crg.2_Missense_Mutation_p.R239C	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	631					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGCCAGTGGCGGAAGGACAAT	0.582000														47			3		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14949147	14949147	+	Splice_Site	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:14949147G>A	uc003bzc.3	+	10	3375	c.3265_splice	c.e10-1	p.E1089_splice	FGD5_uc011avk.2_Splice_Site_p.E1089_splice|FGD5_uc003bzd.3_Splice_Site_p.E167_splice	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1089					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						CCACCCACAGGAAAACCTGCA	0.587000														26			18		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835152	172835152	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:172835152C>T	uc003fin.4	-	1	554	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	124					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AACTTCATTTCCACATCCATT	0.418000														48			29		0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88424205	88424205	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:88424205C>T	uc003ujv.3	-	1	234	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.E18K	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	18										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGAAGAGGTTCCAGTGGCAAA	0.408000														38			16		0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40316715	40316715	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:40316715G>A	uc002omj.3	-	10	1810	c.1530C>T	c.(1528-1530)tcC>tcT	p.S510S	DYRK1B_uc002omi.3_Silent_p.S482S|DYRK1B_uc002omk.3_Silent_p.S470S	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	510	Interaction with RANBP9.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCAGCGGCTGGGAGGGTGGGA	0.652000														7			21		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119252906	119252906	+	Silent	SNP	G	A	A	rs12505679		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:119252906G>A	uc003ica.2	-	3	983	c.936C>T	c.(934-936)gcC>gcT	p.A312A		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	312	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CTTCTGCATCGGCATCATCCC	0.493000														20			18		0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194081266	194081266	+	Silent	SNP	G	A	A	rs149184445		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:194081266G>A	uc003ftt.3	-	2	650	c.525C>T	c.(523-525)ttC>ttT	p.F175F	LRRC15_uc003ftu.3_Silent_p.F169F|LRRC15_uc021xiy.1_Silent_p.F169F	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	169						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CCAGGTGGTCGAAGGCTCCGT	0.592000														104			80		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35793992	35793992	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:35793992G>A	uc003zyd.3	+	1	765	c.765G>A	c.(763-765)ctG>ctA	p.L255L	NPR2_uc010mlb.3_Silent_p.L255L	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	255					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCTTTTACCTGGATGTCTTTG	0.587000														18			24		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826826	92826826	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:92826826G>A	uc011khy.2	-	5	1202	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	HEPACAM2_uc003uml.3_Silent_p.F358F|HEPACAM2_uc010lff.3_Silent_p.F358F|HEPACAM2_uc003umm.3_Silent_p.F370F	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	370						integral to membrane		p.A393D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTTTCCATAGGAAGAGAAGAC	0.303000														19			6		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81199168	81199168	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:81199168G>A	uc002bfw.1	+	11	1836	c.1576G>A	c.(1576-1578)Ggc>Agc	p.G526S	KIAA1199_uc010unn.1_Missense_Mutation_p.G526S	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	526										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TACCTTTGGGGGCCACATCAA	0.502000														8			7		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957411	111957411	+	Missense_Mutation	SNP	C	T	T	rs150120731	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:111957411C>T	uc001eba.3	-	10	1768	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H	OVGP1_uc001eaz.3_Missense_Mutation_p.R533H|OVGP1_uc010owb.2_Missense_Mutation_p.R219H	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	571					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	p.R571S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CACCTTTTCACGGGCCACAGC	0.527000														52			3		0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73448969	73448969	+	Missense_Mutation	SNP	C	T	T	rs140784196	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:73448969C>T	uc002siw.2	+	5	582	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	SMYD5_uc010yre.1_Missense_Mutation_p.R69C	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	185							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGACAAGGACCGTTGGATCAG	0.448000														28			33		0	0	1	0	0
C11orf9	745	broad.mit.edu	37	11	61533462	61533462	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:61533462C>T	uc001nsc.1	+	2	263	c.167C>T	c.(166-168)tCg>tTg	p.S56L	C11orf9_uc001nse.1_Missense_Mutation_p.S47L	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	56					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CCAGCCAGCTCGGCCTCCTAC	0.731000														1			2		0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036942	177036942	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:177036942C>T	uc002ukt.1	+	2	1415	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	413					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L413L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACACAGATCTCTCGGCCCACC	0.642000														20			17		0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:6426892C>T	uc003spx.3	+	1	326	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_uc003spw.3_Missense_Mutation_p.P29S|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	29					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(2)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000														35			14		0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38122014	38122014	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:38122014A>G	uc002htl.1	+	1	192	c.74A>G	c.(73-75)gAc>gGc	p.D25G	GSDMA_uc002htm.1_Missense_Mutation_p.D25G	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	25					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ACACCACTTGACAGCCTCATC	0.592000														2			6		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100064266	100064266	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:100064266G>A	uc001pga.3	+	14	2259	c.1755G>A	c.(1753-1755)gtG>gtA	p.V585V	CNTN5_uc009ywv.2_Silent_p.V585V|CNTN5_uc001pfz.3_Silent_p.V585V|CNTN5_uc021qpb.1_Silent_p.V585V|CNTN5_uc021qpc.1_Silent_p.V511V|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	585	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATTGACAGTGGGAGAAAGCA	0.363000														5			6		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087408	39087408	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr21:39087408C>T	uc011aej.1	-	2	105	c.52G>A	c.(52-54)Gat>Aat	p.D18N	KCNJ6_uc002ywo.2_Missense_Mutation_p.D18N	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	18					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACGTCCTGATCCATGGAGTCG	0.527000														22			16		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43525429	43525429	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:43525429A>T	uc001zrd.2	-	12	2131	c.2123T>A	c.(2122-2124)aTt>aAt	p.I708N	TGM5_uc001zrc.2_Missense_Mutation_p.I365N|TGM5_uc001zre.2_Missense_Mutation_p.I626N	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	708					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GTAACCCTTAATGTCCTTAAA	0.423000														21			16		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113212403	113212403	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:113212403C>T	uc010mtz.3	-	23	4376	c.4039G>A	c.(4039-4041)Gat>Aat	p.D1347N	SVEP1_uc010mua.1_Missense_Mutation_p.D1347N	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1347	EGF-like 5; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGACACTCATCGACGTTCTTT	0.443000														137			73		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11696890	11696890	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:11696890C>T	uc002gne.3	+	41	8200	c.8132C>T	c.(8131-8133)tCa>tTa	p.S2711L	DNAH9_uc010coo.3_Missense_Mutation_p.S2005L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2711					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCATGAATCAAATCGAGTT	0.373000														6			33		0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544235	154544235	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:154544235C>T	uc001ffg.3	+	4	1200	c.936C>T	c.(934-936)atC>atT	p.I312I		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	312					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CCTTCTCCATCGTCACCAGCG	0.632000														10			40		0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108575937	108575937	+	Missense_Mutation	SNP	G	A	A	rs148756122		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:108575937G>A	uc003hyk.3	-	7	1099	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	PAPSS1_uc011cfh.1_Non-coding_Transcript	NM_005443	NP_005434	O43252	PAPS1_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.	339					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TCTGGATTGCGAAGAATGGCC	0.498000														59			40		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70901909	70901909	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:70901909C>T	uc021vjc.1	-	13	1907	c.1642G>A	c.(1642-1644)Gat>Aat	p.D548N	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.D548N|ADD2_uc002sgz.3_Missense_Mutation_p.D548N|ADD2_uc010fdt.2_Missense_Mutation_p.D548N	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	548					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCCTCTGAATCGTCTTTGGTA	0.527000														36			26		0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158064458	158064458	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:158064458G>T	uc001frn.4	+	14	2226	c.1822G>T	c.(1822-1824)Gtg>Ttg	p.V608L	KIRREL_uc010pib.2_Missense_Mutation_p.V508L|KIRREL_uc009wsq.3_Missense_Mutation_p.V444L|KIRREL_uc001fro.4_Missense_Mutation_p.V422L|hCG_1995134_uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	608						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CTACTACAACGTGCGTGCCCA	0.622000														13			51		1.39843e-22	1.42447e-22	1	1	0
LCN8	138307	broad.mit.edu	37	9	139652367	139652368	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:139652367_139652368GG>AA	uc004cjb.1	-	0	364_365	c.15_16CC>TT	c.(13-18)gaccgg>gaTTgg	p.R6W	LCN8_uc004cja.3_5'Flank|LCN8_uc004cjc.1_Missense_Mutation_p.R6W	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN	Homo sapiens lipocalin 8 (LCN8), mRNA.	0					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		ACCTTCTGCCGGTCCAGCTCCT	0.688000														15			13		0	0	1	0	0
NTPCR	84284	broad.mit.edu	37	1	233091382	233091382	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:233091382C>T	uc001hvj.1	+	1	201	c.114C>T	c.(112-114)acC>acT	p.T38T	NTPCR_uc009xft.1_Intron	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	Homo sapiens nucleoside-triphosphatase, cancer-related (NTPCR), mRNA.	38							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						GATTTTATACCGAAGAAGTCA	0.408000														1			22		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55417934	55417934	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:55417934G>A	uc002qib.2	+	2	162	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NCR1_uc002qic.2_Missense_Mutation_p.E42K|NCR1_uc002qie.2_Missense_Mutation_p.E42K|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	42	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GGTTCCAAAGGAAAAGCAAGT	0.547000														13			39		0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094412	150094412	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:150094412C>T	uc003whf.1	+	2	968	c.843C>T	c.(841-843)ttC>ttT	p.F281F		NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	Homo sapiens zinc finger protein 775 (ZNF775), mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		cgcgccAGTTCATCTGCAACG	0.731000														18			12		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6311607	6311607	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:6311607C>T	uc002kmz.4	-	2	178	c.18G>A	c.(16-18)agG>agA	p.R6R	L3MBTL4_uc002kmy.4_Silent_p.R6R|L3MBTL4_uc010dkt.3_Silent_p.R6R	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	6					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GCTTCCTTTTCCTGTTGGGCT	0.507000														118			72		0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111935494	111935495	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:111935494_111935495CC>TT	uc001vrs.2	+	16	2047_2048	c.1797_1798CC>TT	c.(1795-1800)tcccac>tcTTac	p.H600Y	ARHGEF7_uc001vrr.2_Missense_Mutation_p.H579Y|ARHGEF7_uc001vrt.2_Missense_Mutation_p.H550Y|ARHGEF7_uc010tjn.1_Non-coding_Transcript|ARHGEF7_uc001vrv.4_Missense_Mutation_p.H422Y|ARHGEF7_uc001vrw.4_Missense_Mutation_p.H422Y|ARHGEF7_uc001vrx.4_Missense_Mutation_p.H422Y|ARHGEF7_uc010tjo.2_Missense_Mutation_p.H497Y|ARHGEF7_uc010tjp.1_Missense_Mutation_p.H344Y|ARHGEF7_uc001vry.1_Missense_Mutation_p.H16Y|AX748212_uc001vrz.1_5'Flank	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	600					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGCTCCCCTCCCACCCGGTCAC	0.663000														3			4		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138030160	138030160	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:138030160G>A	uc002tva.1	+	9	2231	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G634E	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.S744I(1)		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)		GCAGCCAATGGAGGCCAGGAA	0.388000														11			8		0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52485525	52485525	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:52485525G>A	uc003deb.3	-	4	362	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	112	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CATCCAGGTCGATGTAGCCAT	0.602000														39			21		0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930731	184930731	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:184930731C>T	uc003ivz.1	+	2	2175	c.740C>T	c.(739-741)tCc>tTc	p.S247F	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	247					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GTAAATTTTTCCTATAAGACA	0.408000														17			7		0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37570695	37570695	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:37570695C>T	uc002xjg.3	+	1	708	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F	FAM83D_uc002xjf.3_Missense_Mutation_p.L223F	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	193					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TGTGTATATCCTTCTGGACCA	0.453000														39			25		0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912264	101912264	+	Silent	SNP	C	T	T	rs145332528	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:101912264C>T	uc010nod.3	+	2	4065	c.3423C>T	c.(3421-3423)tcC>tcT	p.S1141S	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.S1141S|GPRASP1_uc004ejj.4_Silent_p.S1141S|GPRASP1_uc004eji.4_Silent_p.S1141S|GPRASP1_uc022cbd.1_Silent_p.S1141S	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	1141	OPRD1-binding.					cytoplasm	protein binding	p.S1140L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGTTCATCCTGTAACTGCA	0.403000														10			38		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215843107	215843107	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:215843107G>A	uc002vew.3	-	32	5281	c.5061C>T	c.(5059-5061)tcC>tcT	p.S1687S	ABCA12_uc002vev.3_Silent_p.S1369S|ABCA12_uc010zjn.2_Silent_p.S614S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1687					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATTGGCATTGGAATTCCCAA	0.378000														18			9		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157512925	157512925	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:157512925G>A	uc009wsm.3	-	5	1005	c.847C>T	c.(847-849)Cct>Tct	p.P283S	FCRL5_uc001fqu.3_Missense_Mutation_p.P283S|FCRL5_uc010phv.1_Missense_Mutation_p.P283S|FCRL5_uc010phw.1_Missense_Mutation_p.P198S|FCRL5_uc001fqv.1_Missense_Mutation_p.P283S|FCRL5_uc010phx.2_Missense_Mutation_p.P34S	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	283						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)				TGAGATGCAGGGACTGAGCAA	0.478000														3			14		0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118165806	118165806	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:118165806C>T	uc021osq.1	+	0	316	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	FAM46C_uc001ehe.3_Nonsense_Mutation_p.Q106*	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	106								p.Q106L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGCAGAATTTCAGCTGGTTAG	0.502000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				14			25		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814680	43814680	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:43814680C>T	uc001zrt.3	+	3	1476	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	337	Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.R337W(4)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTTGGCCAAACGGGAGGAGGT	0.547000														10			6		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51941127	51941127	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:51941127G>A	uc003pah.1	-	5	671	c.395C>T	c.(394-396)tCc>tTc	p.S132F	PKHD1_uc003pai.3_Missense_Mutation_p.S132F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	132					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGCGCCTTGGAAAACTGTTT	0.393000														21			8		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365972	88365972	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:88365972A>T	uc003ydy.2	+	9	1309	c.1261A>T	c.(1261-1263)Aaa>Taa	p.K421*		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	421										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CATTACCAAAAAAGAAGTTGA	0.333000														10			16		0	0	1	0	0
C3orf52	79669	broad.mit.edu	37	3	111821746	111821746	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:111821746C>T	uc011bhs.2	+	2	403	c.330C>T	c.(328-330)ttC>ttT	p.F110F	C3orf52_uc003dyq.4_Silent_p.F110F|C3orf52_uc011bht.1_Silent_p.F110F	NM_001171747	NP_001165218	Q5BVD1	TTMP_HUMAN	Homo sapiens chromosome 3 open reading frame 52 (C3orf52), transcript variant 1, mRNA.	110						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						AAACATTCTTCATCATGCTGA	0.363000														4			3		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964523	48964523	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:48964523G>A	uc010kyv.1	+	0	367	c.255G>A	c.(253-255)agG>agA	p.R85R						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		CAATGTTAAGGAAGAAAATTG	0.378000														21			9		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420767	11420767	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:11420767C>T	uc001qzs.3	-	2	454	c.416G>A	c.(415-417)gGa>gAa	p.G139E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	139	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)			TTCTGGCTTTCCCGGACGAGG	0.642000														96			38		0	0	1	0	0
HSPB3	8988	broad.mit.edu	37	5	53751954	53751954	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:53751954G>A	uc003jph.2	+	0	524	c.335G>A	c.(334-336)aGa>aAa	p.R112K		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA.	112					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TTTATCTCAAGAAGCTTCACC	0.453000														17			28		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10903145	10903145	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:10903145C>T	uc003mzo.3	+	7	886	c.590C>T	c.(589-591)cCt>cTt	p.P197L	SYCP2L_uc011din.1_Missense_Mutation_p.P38L|SYCP2L_uc010jow.3_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	197						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CACGCTGTCCCTCGAGAAGAG	0.388000														27			12		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166223779	166223779	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:166223779G>A	uc002udc.3	+	18	3863	c.3573G>A	c.(3571-3573)ggG>ggA	p.G1191G	SCN2A_uc002udd.3_Silent_p.G1191G|SCN2A_uc002ude.3_Silent_p.G1191G	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1191					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAGGCAAAGGGAAACTCTGGT	0.383000														36			9		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085323	17085323	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:17085323G>A	uc010ock.2	-	9	1368	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.S18L					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.R456R(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CACAGTAGTCGAATGGGGTCC	0.602000														43			3		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45453114	45453114	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:45453114G>A	uc001zus.1	+	29	4128	c.3782G>A	c.(3781-3783)gGg>gAg	p.G1261E	DUOX1_uc001zut.1_Missense_Mutation_p.G1261E|DUOX1_uc010bee.1_Missense_Mutation_p.G641E	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1261	Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATCATCTATGGGGGCGACAAG	0.572000														47			35		0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31748868	31748868	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:31748868G>A	uc003nxe.3	-	21	3000	c.2577C>T	c.(2575-2577)caC>caT	p.H859H	VARS_uc021yuy.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	859					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCTTCCGGCCGTGAGCATCTC	0.617000														20			16		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324469	24324469	+	Missense_Mutation	SNP	G	A	A	rs139013320		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:24324469G>A	uc003xeb.3	+	5	660	c.547G>A	c.(547-549)Gat>Aat	p.D183N	ADAM7_uc003xea.1_Missense_Mutation_p.D183N	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	183					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGTTCCAGGGGATAATGAATC	0.358000														49			26		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131133	45131133	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:45131133C>T	uc002xsa.3	-	3	1376	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	ZNF334_uc002xsb.3_Missense_Mutation_p.R244Q|ZNF334_uc002xsd.3_Missense_Mutation_p.R244Q|ZNF334_uc002xsc.3_Missense_Mutation_p.R282Q|ZNF334_uc010ghl.3_Missense_Mutation_p.R281Q			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCTTCGGTGTCGAGTGAGGCT	0.408000														55			32		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433022	55433022	+	Missense_Mutation	SNP	C	G	G	rs139660252		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:55433022C>G	uc010rik.2	+	0	380	c.380C>G	c.(379-381)cCc>cGc	p.P127R		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P127L(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATCTGTAAGCCCCTGCACTAC	0.547000														12			13		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185012432	185012432	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:185012432C>T	uc003iwc.3	-	7	1363	c.1221G>A	c.(1219-1221)tgG>tgA	p.W407*		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	407					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCACCCTGGACCAGGATCCGT	0.587000														59			28		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961589	73961589	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:73961589G>A	uc004eby.3	-	2	3420	c.2803C>T	c.(2803-2805)Cca>Tca	p.P935S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	935					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						AGACAGATTGGATTGTATGTT	0.453000														6			25		0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85446516	85446516	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:85446516G>A	uc003pkl.1	-	7	1711	c.1711C>T	c.(1711-1713)Cct>Tct	p.P571S	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	571					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P570H(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCTTCCACAGGGGGCAACATC	0.527000														5			24		0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108603920	108603920	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:108603920G>A	uc001tms.3	+	3	1264	c.520G>A	c.(520-522)Gag>Aag	p.E174K	WSCD2_uc001tmt.3_Missense_Mutation_p.E174K	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	174	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGGCGGGCTGGAGTTCGGCGC	0.647000														32			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455156	179455156	+	Silent	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:179455156A>G	uc021vsy.1	-	252	53817	c.53592T>C	c.(53590-53592)ttT>ttC	p.F17864F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.F11559F|TTN_uc021vta.1_Silent_p.F11492F|TTN_uc021vtb.1_Silent_p.F11367F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18791	Fibronectin type-III 29.						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)			CAGGTACCCTAAAGGCACATT	0.428000														34			32		0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30128324	30128324	+	Splice_Site	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:30128324G>A	uc002dws.3	-	7	1008	c.908_splice	c.e7-1	p.A303_splice	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Splice_Site_p.A189_splice|MAPK3_uc002dwv.4_Splice_Site_p.A259_splice|MAPK3_uc002dwt.3_Splice_Site_p.A303_splice	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	303	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CAGGTCAAGGGCTATGGAAGG	0.582000														98			39		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769582	247769582	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:247769582A>C	uc010pyz.2	+	0	695	c.695A>C	c.(694-696)gAg>gCg	p.E232A		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAATCAGTAGAGGCAAGGCAC	0.458000														7			29		0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155217952	155217952	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:155217952G>A	uc001fjm.3	-	10	2328	c.1722C>T	c.(1720-1722)tcC>tcT	p.S574S	FAM189B_uc009wql.3_Silent_p.S376S|FAM189B_uc001fjn.3_Silent_p.S478S|FAM189B_uc001fjo.3_Silent_p.S556S|FAM189B_uc001fjp.3_Non-coding_Transcript	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	574						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTCCCCCAGGGAGTGGGCAG	0.647000														6			17		0	0	1	0	0
SERINC1	57515	broad.mit.edu	37	6	122768396	122768396	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:122768396G>A	uc003pyy.1	-	7	935	c.865C>T	c.(865-867)Cca>Tca	p.P289S		NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	Homo sapiens serine incorporator 1 (SERINC1), mRNA.	289					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AGTAGACTTGGGTTGCAATTT	0.333000														19			31		0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90356554	90356554	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:90356554C>T	uc001kff.3	+	7	898	c.584C>T	c.(583-585)tCa>tTa	p.S195L		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	Homo sapiens lipase, family member J (LIPJ), mRNA.	195					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		CAGGCTTTTTCAGGCAACAAA	0.303000														16			29		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24253233	24253233	+	Splice_Site	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:24253233G>A	uc003xdz.2	+	5	584	c.364_splice	c.e5-1	p.E122_splice	ADAMDEC1_uc010lub.2_Splice_Site_p.E43_splice|ADAMDEC1_uc011lab.1_Splice_Site_p.E43_splice	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	122					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.E122K(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TCCACTCCAGGAACACTGTTA	0.358000														18			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187261	140187261	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:140187261G>A	uc003lhi.2	+	0	590	c.489G>A	c.(487-489)ggG>ggA	p.G163G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.G163G|PCDHAC2_uc011daa.2_Silent_p.G163G	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	178	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATATCGGGGAGAACGCCC	0.522000														11			21		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130416992	130416992	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:130416992C>T	uc004ewe.4	-	5	1197	c.914G>A	c.(913-915)gGt>gAt	p.G305D	IGSF1_uc004ewd.3_Missense_Mutation_p.G305D|IGSF1_uc022cdv.1_Missense_Mutation_p.G296D|IGSF1_uc004ewf.2_Missense_Mutation_p.G285D	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	305	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AAGGAGTGAACCTCTATATGA	0.393000														6			16		0	0	1	0	0
SP6	80320	broad.mit.edu	37	17	45924715	45924715	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:45924715C>A	uc002imh.1	-	1	1359	c.1081G>T	c.(1081-1083)Ggg>Tgg	p.G361W	SP6_uc002img.1_Missense_Mutation_p.G361W|SP6_uc021tzc.1_Missense_Mutation_p.G361W	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCTTTGCCCCCGGGGGGCTCC	0.721000														3			7		8.12818e-05	8.15111e-05	1	1	0
IFT27	11020	broad.mit.edu	37	22	37154423	37154424	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:37154423_37154424GG>AT	uc003apv.2	-	6	913_914	c.492_493CC>AT	c.(490-495)ttccac>ttATac	p.164_165FH>LY	IFT27_uc021won.1_Missense_Mutation_p.123_124FH>LY|IFT27_uc003apu.2_Missense_Mutation_p.163_164FH>LY|IFT27_uc021woo.1_Non-coding_Transcript|IFT27_uc003apw.2_3'UTR	NM_001177701	NP_001171173	Q9BW83	IFT27_HUMAN	Homo sapiens intraflagellar transport 27 homolog (Chlamydomonas) (IFT27), transcript variant 1, mRNA.	164					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCAAGGCAGTGGAAAGGGGCTT	0.530000											OREG0026524	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			19		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21237341	21237341	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:21237341G>A	uc002red.3	-	23	3949	c.3821C>T	c.(3820-3822)cCa>cTa	p.P1274L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1274					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)	GAGGTTTTCTGGGATGTGGAA	0.408000														25			15		0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33313484	33313484	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:33313484T>C	uc003tdn.1	+	8	1445	c.932T>C	c.(931-933)aTg>aCg	p.M311T	BBS9_uc003tdo.1_Missense_Mutation_p.M311T|BBS9_uc003tdp.1_Missense_Mutation_p.M311T|BBS9_uc003tdq.1_Missense_Mutation_p.M311T|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc011kan.1_Missense_Mutation_p.M311T|BBS9_uc011kao.1_Missense_Mutation_p.M189T	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	311					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CATAATAACATGCTGCATATT	0.358000									Bardet-Biedl syndrome					16			8		0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6424892	6424892	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:6424892G>A	uc001mdb.1	-	2	982	c.882C>T	c.(880-882)ccC>ccT	p.P294P	APBB1_uc001mdd.3_Silent_p.P74P|APBB1_uc001mdc.1_Silent_p.P294P|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Silent_p.P59P|APBB1_uc009yey.2_Silent_p.P35P|APBB1_uc009yfa.2_Silent_p.P35P|APBB1_uc010rag.1_Silent_p.P35P|APBB1_uc009yfb.2_Silent_p.P35P|APBB1_uc001mde.2_Silent_p.P35P|APBB1_uc010rah.1_Silent_p.P35P	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	294					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACTCCTCTTGGGGGCTGCTCC	0.632000														37			28		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169321994	169321994	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:169321994C>T	uc021xuh.1	-	24	3584	c.3474G>A	c.(3472-3474)agG>agA	p.R1158R	DDX60L_uc003irq.4_Silent_p.R1158R|DDX60L_uc003irr.1_Silent_p.R1158R|DDX60L_uc003irs.1_Silent_p.R853R	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1158							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCTGTGTCTTCCTCACTTTTT	0.363000														7			11		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996209	19996209	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:19996209C>T	uc002ktv.1	-	0	1670	c.1566G>A	c.(1564-1566)cgG>cgA	p.R522R		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	522						integral to membrane		p.R522L(1)		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)					TTCCTCCTCCCCGTGGAAGCA	0.512000														50			43		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490241	37490241	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:37490241G>A	uc021ppc.1	+	30	2788	c.2689G>A	c.(2689-2691)Gga>Aga	p.G897R	ANKRD30A_uc001iza.1_Missense_Mutation_p.G897R	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	953						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						TAAAATAAGTGGAAAATTAGA	0.328000														23			10		0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672800	113672800	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:113672800C>T	uc003eau.3	+	2	714	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	ZDHHC23_uc003eav.3_Silent_p.L133L	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	139						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AGAACAGACCCTGTTTTTCCT	0.552000														53			40		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48460709	48460709	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:48460709G>A	uc003csw.2	-	11	3046	c.2776C>T	c.(2776-2778)Ccg>Tcg	p.P926S	PLXNB1_uc003csu.2_Missense_Mutation_p.P743S|PLXNB1_uc003csx.2_Missense_Mutation_p.P926S|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_5'Flank	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	926					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACATGGACCGGCATCAACGTG	0.622000														22			3		0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4941617	4941617	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:4941617C>T	uc002mbp.3	+	4	1195	c.902C>T	c.(901-903)cCc>cTc	p.P301L	UHRF1_uc002mbo.3_Missense_Mutation_p.P288L|UHRF1_uc010xik.2_Intron|UHRF1_uc010duf.3_Non-coding_Transcript	NM_013282	NP_037414	Q96T88	UHRF1_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 1 (UHRF1), transcript variant 2, mRNA.	288					DNA repair|cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAAGGGAGCCCCATGGTTGAC	0.602000														3			9		0	0	1	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115285	27115285	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:27115285G>A	uc003niz.3	+	0	378	c.378G>A	c.(376-378)aaG>aaA	p.K126K	HIST1H2BK_uc003nix.2_5'Flank|Histone3_uc021yox.1_5'Flank|HIST1H2BK_uc021yoy.1_5'Flank|MIR3143_uc021yoz.1_5'Flank|TRNA_Val_uc021ypa.1_5'Flank	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN	Homo sapiens histone cluster 1, H2ah (HIST1H2AH), mRNA.	126					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GCCACCATAAGGCCAAATAAG	0.493000														23			23		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100403900	100403900	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:100403900C>T	uc003pqh.1	-	1	439	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	MCHR2_uc003pqi.1_Missense_Mutation_p.G42R	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	42						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I41V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGATAATCCCAATCATGGAA	0.388000														7			19		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100888951	100888951	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:100888951G>A	uc004aym.3	-	10	1442	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	CORO2A_uc004ayl.3_Silent_p.S442S|CORO2A_uc004ayk.3_Silent_p.S89S	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	442					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.S442F(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CCAACAGGGAGGAAGACCTCC	0.547000														75			43		0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19653728	19653728	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:19653728G>A	uc002dgn.2	+	21	2110	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	C16orf62_uc002dgo.2_Missense_Mutation_p.E621K|C16orf62_uc002dgp.2_Missense_Mutation_p.E348K	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	599						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GCATCAACAAGAGCCCACCAA	0.428000														19			19		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898316	175898316	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:175898316C>T	uc003iuc.3	+	4	2310	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	ADAM29_uc003iud.3_Missense_Mutation_p.S547L|ADAM29_uc010irr.3_Missense_Mutation_p.S547L|ADAM29_uc011cki.2_Missense_Mutation_p.S547L|ADAM29_uc021xuo.1_Missense_Mutation_p.S547L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	547	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTAATATCTCAGATGTCCAG	0.388000														45			26		0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2052650	2052650	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:2052650G>A	uc002cof.1	-	5	564	c.549C>T	c.(547-549)caC>caT	p.H183H	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'Flank	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	183						intracellular	zinc ion binding	p.S182L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGTGCCCACGGTGCGACGTGT	0.602000														19			17		0	0	1	0	0
TMEM66	51669	broad.mit.edu	37	8	29927323	29927323	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:29927323T>A	uc003xhs.3	-	2	719	c.535A>T	c.(535-537)Att>Ttt	p.I179F	MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Missense_Mutation_p.I7F	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	Homo sapiens transmembrane protein 66 (TMEM66), mRNA.	179						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		AGTACCACAATGGTAATCAAT	0.468000														33			15		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763976	92763976	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:92763976C>T	uc003umh.1	-	4	2525	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	SAMD9L_uc003umj.1_Missense_Mutation_p.E437K|SAMD9L_uc003umi.1_Missense_Mutation_p.E437K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E437K|SAMD9L_uc003umk.1_Missense_Mutation_p.E437K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E437K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E437K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E437K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	437										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTTAATTTCTTTTAAAAAA	0.363000														41			21		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6923438	6923438	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:6923438G>A	uc001qqv.2	+	3	603	c.345G>A	c.(343-345)aaG>aaA	p.K115K	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Silent_p.K60K|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	115	Ig-like V-type.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AGGACCAGAAGGAGGAGGTGC	0.512000														19			11		0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1393017	1393017	+	Splice_Site	SNP	T	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:1393017T>G	uc002clk.2	+	14	1528	c.1370_splice	c.e14+1	p.L457_splice	BAIAP3_uc010uuz.2_Splice_Site_p.L422_splice|BAIAP3_uc010uva.2_Splice_Site_p.L394_splice|BAIAP3_uc021tag.1_Splice_Site_p.L399_splice|BAIAP3_uc002clj.3_Splice_Site_p.L439_splice|BAIAP3_uc010uvc.1_Splice_Site_p.L386_splice	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	457					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CTGGCCGTGCTGTGAGTGGGT	0.672000														18			4		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47512160	47512160	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:47512160G>A	uc001cqt.3	+	8	1345	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	CYP4X1_uc001cqr.3_Silent_p.S364S|CYP4X1_uc001cqs.3_Silent_p.S300S	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	365						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.S365S(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GTGAGATGTCGTACACCACAA	0.483000														6			31		0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4791444	4791444	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:4791444C>T	uc001qnc.3	+	8	903	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	NDUFA9_uc010ses.2_Missense_Mutation_p.P73S	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	292					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CCTCCCATTCCCCTTGCCGCT	0.458000														58			30		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784108	151784108	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:151784108G>A	uc003luv.2	-	0	733	c.567C>T	c.(565-567)ttC>ttT	p.F189F		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	189					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGAAGTAGTGGAACTTGATGC	0.597000														22			27		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100694941	100694941	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:100694941G>A	uc003uxp.1	+	7	12975	c.12922G>A	c.(12922-12924)Gtg>Atg	p.V4308M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4308						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)					AAACATTACGGTGACCCAGTA	0.542000														13			16		0	0	1	0	0
PRPF18	8559	broad.mit.edu	37	10	13652101	13652101	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:13652101C>T	uc001imp.3	+	4	574	c.426C>T	c.(424-426)atC>atT	p.I142I	PRPF18_uc001imq.3_Intron	NM_003675	NP_003666	Q99633	PRP18_HUMAN	Homo sapiens PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) (PRPF18), mRNA.	142					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TCAATGAAATCGTCGGCGGTC	0.413000														43			27		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108875272	108875272	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:108875272G>A	uc010ywo.2	+	4	609	c.609G>A	c.(607-609)gaG>gaA	p.E203E		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	203						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TCTTCTACGAGGATATTAAAA	0.453000														12			12		0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159606666	159606666	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:159606666G>A	uc003fcq.2	+	8	1661	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N	IQCJ-SCHIP1_uc003fcr.2_Missense_Mutation_p.D467N|IQCJ-SCHIP1_uc003fcs.2_Missense_Mutation_p.D418N|IQCJ-SCHIP1_uc003fct.2_Missense_Mutation_p.D405N|IQCJ-SCHIP1_uc021xgm.1_Missense_Mutation_p.D186N|IQCJ-SCHIP1_uc010hvz.1_Missense_Mutation_p.D378N|IQCJ-SCHIP1_uc003fcu.2_Missense_Mutation_p.D175N	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	418						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AAAACCCACCGACCTGAGAGA	0.403000														26			35		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179489212	179489212	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:179489212G>A	uc021vsy.1	-	190	37316	c.37091C>T	c.(37090-37092)tCc>tTc	p.S12364F	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S6059F|TTN_uc021vta.1_Missense_Mutation_p.S5992F|TTN_uc021vtb.1_Missense_Mutation_p.S5867F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13291							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)			CAGGTTACAGGAAGTCTTAAA	0.353000														32			27		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79362440	79362440	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:79362440A>G	uc003hlb.2	+	40	6094	c.5654A>G	c.(5653-5655)aAc>aGc	p.N1885S	FRAS1_uc003hkw.3_Missense_Mutation_p.N1885S|FRAS1_uc010ijj.2_Missense_Mutation_p.N305S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1884					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCATTGAGAACACAGGAACA	0.453000														8			8		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77645799	77645799	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:77645799G>A	uc011bgk.2	+	19	3407	c.2764G>A	c.(2764-2766)Gat>Aat	p.D922N	ROBO2_uc021xat.1_Missense_Mutation_p.D934N|ROBO2_uc003dpy.4_Missense_Mutation_p.D918N|ROBO2_uc003dpz.3_Missense_Mutation_p.D922N|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.D45N	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	918					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAATGCTGGTGATCCCAGCTA	0.448000														55			36		0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123527023	123527023	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:123527023C>T	uc004bkn.2	-	7	1602	c.1275G>A	c.(1273-1275)cgG>cgA	p.R425R	FBXW2_uc011lyc.1_Silent_p.R264R|FBXW2_uc004bkl.1_Silent_p.R393R|FBXW2_uc004bkm.1_Silent_p.R393R|FBXW2_uc010mvj.1_Silent_p.R328R	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	Homo sapiens F-box and WD repeat domain containing 2 (FBXW2), mRNA.	393					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GGCTCTCTGTCCGCAAGTCCA	0.517000														50			26		0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9236693	9236693	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:9236693G>A	uc010xkl.2	-	0	934	c.934C>T	c.(934-936)Cat>Tat	p.H312Y		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AGACATCAATGGAAAGATGGT	0.443000														4			31		0	0	1	0	0
SCN4B	6330	broad.mit.edu	37	11	118014667	118014667	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:118014667G>A	uc001pse.3	-	2	586	c.344C>T	c.(343-345)tCc>tTc	p.S115F	SCN4B_uc010rxu.2_Missense_Mutation_p.S5F|SCN4B_uc010rxv.2_Intron	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.	115	Ig-like C2-type.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		CAGCACAATGGAAATGTTGTT	0.507000														11			26		0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103495026	103495026	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:103495026G>A	uc004ely.3	-	3	1173	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	368	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGGGCGGCCCGGGTGGCAGAG	0.701000														6			13		0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48614448	48614448	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:48614448C>T	uc010wms.2	+	2	884	c.696C>T	c.(694-696)agC>agT	p.S232S	EPN3_uc002ira.4_Silent_p.S177S|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Silent_p.S177S			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	177						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AGGACTACAGCCGCTCCCGGG	0.657000														9			11		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318556	30318556	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:30318556C>T	uc009xle.2	-	2	658	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	KIAA1462_uc001iux.3_Missense_Mutation_p.R174Q|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.R36Q	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	174										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCTGACATTCGCAATTCTTC	0.547000														123			75		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454977	84454977	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:84454977G>A	uc001vlk.3	-	0	1552	c.666C>T	c.(664-666)tcC>tcT	p.S222S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	222	LRRCT 1.					integral to membrane		p.L221V(1)|p.S222Y(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATTCTTTCAGGGAGAGCAGAT	0.532000														29			29		0	0	1	0	0
IRS2	8660	broad.mit.edu	37	13	110434413	110434413	+	Silent	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:110434413A>G	uc001vqv.3	-	0	4502	c.3988T>C	c.(3988-3990)Ttg>Ctg	p.L1330L		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.	1330				LPPANTYASIDFLSHHLKEATIVKE -> PAPCPTTYAQH (in Ref. 1; BAA24500).	fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GCCTCCTTCAAGTGGTGGGAC	0.687000														24			7		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77542409	77542409	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:77542409C>T	uc011bgk.2	+	4	1325	c.682C>T	c.(682-684)Ctc>Ttc	p.L228F	ROBO2_uc021xat.1_Missense_Mutation_p.L244F|ROBO2_uc003dpy.4_Missense_Mutation_p.L228F|ROBO2_uc003dpz.3_Missense_Mutation_p.L228F|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	228	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.L228L(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCCACATTTCTCAGGAGGCC	0.378000														38			22		0	0	1	0	0
OR11H1	81061	broad.mit.edu	37	22	16449110	16449110	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:16449110G>A	uc011agd.2	-	0	695	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 1 (OR11H1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		AAGAGTATAGGATCCAATAAT	0.423000														72			30		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32203093	32203093	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:32203093G>A	uc001btn.3	-	19	3270	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F	BAI2_uc010ogn.2_5'Flank|BAI2_uc010ogo.2_Silent_p.F614F|BAI2_uc010ogp.2_Silent_p.F905F|BAI2_uc010ogq.2_Silent_p.F972F|BAI2_uc001bto.3_Silent_p.F972F|BAI2_uc001btp.1_5'Flank	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	972					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGACAGGCAGAAGTTCAGCA	0.607000														5			31		0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102793137	102793137	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:102793137G>A	uc002tbq.3	+	11	1946	c.1628G>A	c.(1627-1629)cGg>cAg	p.R543Q	IL1R1_uc010fix.3_Missense_Mutation_p.R512Q|IL1R1_uc002tbr.3_Missense_Mutation_p.R543Q	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	543					innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GTCCAGCGACGGTCACCTTCA	0.532000														32			15		0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158017	102158017	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:102158017G>A	uc001tit.3	-	12	2870	c.2678C>T	c.(2677-2679)cCa>cTa	p.P893L		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	893					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTTCTCCCATGGCAAAAAGCC	0.378000														83			65		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28923530	28923530	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:28923530C>T	uc002kwp.3	+	11	2017	c.1805C>T	c.(1804-1806)cCa>cTa	p.P602L	DSG1_uc010xbp.2_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	602					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTAGAAGGACCACAGCCTGAA	0.488000														43			14		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50953396	50953396	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:50953396C>T	uc009xog.3	-	10	1738	c.1704G>A	c.(1702-1704)gaG>gaA	p.E568E	OGDHL_uc001jie.3_Silent_p.E541E|OGDHL_uc010qgt.2_Silent_p.E484E|OGDHL_uc010qgu.2_Silent_p.E332E|OGDHL_uc009xoh.2_Silent_p.E332E	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	541					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCACCTCAAACTCCTGCAGGG	0.592000														19			14		0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97866208	97866208	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:97866208G>T	uc010yva.2	+	45	3047	c.2803G>T	c.(2803-2805)Gat>Tat	p.D935Y	ANKRD36_uc002sxp.3_Non-coding_Transcript	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	935										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TGATGAGAAGGATTCTTTTTC	0.328000														5			3		0.150653	0.150653	1	1	0
FBXO43	286151	broad.mit.edu	37	8	101152946	101152946	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:101152946C>T	uc003yjd.3	-	1	2272	c.1536G>A	c.(1534-1536)atG>atA	p.M512I	FBXO43_uc003yje.3_Missense_Mutation_p.M478I|FBXO43_uc010mbp.2_Missense_Mutation_p.M512I	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	512	F-box.				meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACTCTAAAACCATAGCAAGAA	0.328000														28			26		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720556	95720556	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:95720556T>A	uc009xuj.2	-	0	1117	c.598A>T	c.(598-600)Aaa>Taa	p.K200*						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		ATATGCATTTTTACCGATCTT	0.453000														12			20		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853476	122853476	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:122853476C>T	uc003ieg.2	-	1	1011	c.937G>A	c.(937-939)Gag>Aag	p.E313K	TRPC3_uc010inr.2_Missense_Mutation_p.E240K|TRPC3_uc003ief.2_Missense_Mutation_p.E240K|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	228					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTGCTGAGCTCTAGGGCCGTA	0.597000														23			15		0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91423330	91423330	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:91423330C>T	uc002bpu.1	+	12	1599	c.1383C>T	c.(1381-1383)atC>atT	p.I461I		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	461					Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACAGAGACATCGGGAAACGGC	0.682000														11			7		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137206693	137206693	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:137206693G>A	uc003vtt.3	-	20	2168	c.2167C>T	c.(2167-2169)Cgt>Tgt	p.R723C	DGKI_uc003vtu.3_Missense_Mutation_p.R423C	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCCTCAGACGATCTGGGACA	0.463000														9			6		0	0	1	0	0
RAB22A	57403	broad.mit.edu	37	20	56934720	56934720	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:56934720C>T	uc002xyz.3	+	6	808	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_020673	NP_065724	Q9UL26	RB22A_HUMAN	Homo sapiens RAB22A, member RAS oncogene family (RAB22A), mRNA.	182					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			GCTTCAAACTCCGAAGACAGC	0.512000														15			13		0	0	1	0	0
ACTR5	79913	broad.mit.edu	37	20	37380858	37380858	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:37380858C>T	uc002xjd.2	+	2	715	c.690C>T	c.(688-690)taC>taT	p.Y230Y		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	230					DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				AGCTGAAGTACCCTGGGCACC	0.517000														22			10		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234113176	234113176	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:234113176C>T	uc010zmo.2	+	24	3446	c.3293C>T	c.(3292-3294)tCg>tTg	p.S1098L	INPP5D_uc010zmp.2_Missense_Mutation_p.S1097L	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1127	Pro-rich.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	p.G1097S(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCTTCCAGATCGGAAATCAAC	0.721000														2			3		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141016158	141016158	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:141016158C>T	uc004cog.3	+	45	6866	c.6721C>T	c.(6721-6723)Ccc>Tcc	p.P2241S	CACNA1B_uc022bqn.1_Silent_p.T2178T|CACNA1B_uc004coi.3_Missense_Mutation_p.P1455S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2243					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)	GCAGAGAGACCCCCTCAGCCA	0.672000														23			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090102	9090102	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:9090102G>A	uc002mkp.3	-	0	1917	c.1713C>T	c.(1711-1713)acC>acT	p.T571T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	571	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						TGGTCTTCAGGGTGGTGAAGC	0.527000														7			48		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898849	130898849	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:130898849C>T	uc001uil.2	-	13	2689	c.2473G>A	c.(2473-2475)Gat>Aat	p.D825N		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	825						cell junction|synapse		p.D824D(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGCCCGTAATCGTCTGCGAGC	0.572000														23			14		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744542	37744542	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:37744542G>T	uc004aag.1	+	15	2557	c.2513G>T	c.(2512-2514)aGa>aTa	p.R838I	FRMPD1_uc004aah.1_Missense_Mutation_p.R838I	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	838						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGAGGAAAAGAAGGTCTTTC	0.547000														5			20		3.99206e-14	4.04324e-14	1	1	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15323422	15323422	+	RNA	SNP	T	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr21:15323422T>A	uc002yji.2	-	3		c.896A>T								Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		TTCTTTGTACTGCTCCTTTCA	0.323000														16			18		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156422503	156422503	+	Silent	SNP	T	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:156422503T>C	uc003fav.3	+	5	1979	c.1557T>C	c.(1555-1557)ttT>ttC	p.F519F	TIPARP_uc003faw.3_Silent_p.F519F|TIPARP_uc021xgg.1_Silent_p.F519F	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	519	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGAAAATGTTTGGCCGTGACA	0.388000														34			19		0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134256013	134256013	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:134256013C>T	uc003eqo.1	+	6	907	c.458C>T	c.(457-459)tCg>tTg	p.S153L	CEP63_uc003eql.1_Missense_Mutation_p.S153L|CEP63_uc003eqm.3_Missense_Mutation_p.S153L|CEP63_uc003eqn.1_Missense_Mutation_p.S153L	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	153					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	p.S153L(2)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CGTCAGAAATCGCTGGACTGG	0.438000														38			24		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117139164	117139164	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:117139164G>A	uc004biq.3	-	1	1058	c.923C>T	c.(922-924)cCt>cTt	p.P308L	AKNA_uc004bio.3_5'UTR|AKNA_uc004bip.3_Missense_Mutation_p.P227L|AKNA_uc004bir.3_Missense_Mutation_p.P308L|AKNA_uc004bis.3_Missense_Mutation_p.P308L|AKNA_uc010mve.2_Missense_Mutation_p.P189L|AKNA_uc004biu.1_Missense_Mutation_p.P49L|AKNA_uc004biv.1_Missense_Mutation_p.P308L|AKNA_uc004biw.1_Missense_Mutation_p.P308L	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GAATCGGGAAGGGAGTGGCTT	0.607000														21			7		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111696526	111696526	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:111696526A>G	uc003puy.4	-	12	3373	c.3032T>C	c.(3031-3033)aTg>aCg	p.M1011T	REV3L_uc003pux.4_Missense_Mutation_p.M933T|REV3L_uc003puz.4_Missense_Mutation_p.M933T	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1011					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATATAGTTCCATTTTTTCTTC	0.318000								DNA polymerases (catalytic subunits)						15			30		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951685	119951685	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:119951685G>A	uc010inb.3	+	3	1951	c.1755G>A	c.(1753-1755)atG>atA	p.M585I	SYNPO2_uc010ina.3_Missense_Mutation_p.M585I|SYNPO2_uc003icm.4_Missense_Mutation_p.M585I|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.M513I|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	585						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGTCCCCATGAATAGAACGG	0.532000														35			23		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128044	6128044	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:6128044A>G	uc001qnn.1	-	27	4790	c.4540T>C	c.(4540-4542)Ttc>Ctc	p.F1514L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1514	VWFA 2.		F -> C (in VWD2).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCCTGTTGAAGTCGGCTTCA	0.572000														21			10		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814383	137814384	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:137814383_137814384GG>AA	uc002tva.1	+	1	440_441	c.440_441GG>AA	c.(439-441)cgg>cAA	p.R147Q	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.R37Q	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.R147Q(1)|p.R178Q(1)		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)		CCTTGTCCCCGGGATTGTGTAG	0.495000														112			56		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131375668	131375668	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:131375668C>T	uc004bvl.4	+	38	5179	c.5037C>T	c.(5035-5037)gcC>gcT	p.A1679A	SPTAN1_uc004bvm.4_Silent_p.A1684A|SPTAN1_uc004bvn.4_Silent_p.A1659A	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1679					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGGTGGAGGCCCTGCTGGCAT	0.478000														17			14		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120622640	120622640	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:120622640G>A	uc001txo.3	-	2	185	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	58					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TATCGATGCAGAGTCAAGCAG	0.478000														27			16		0	0	1	0	0
SUCLA2	8803	broad.mit.edu	37	13	48547442	48547442	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:48547442G>A	uc001vbs.3	-	4	677	c.620C>T	c.(619-621)cCt>cTt	p.P207L	SUCLA2_uc010tgb.2_Missense_Mutation_p.P147L|SUCLA2_uc010tgc.2_Missense_Mutation_p.P73L|SUCLA2_uc010tgd.2_Missense_Mutation_p.P147L	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA.	207	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	p.E206*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	AATATCAATAGGTTCTTTAAT	0.363000														29			12		0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155139	106155140	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:106155139_106155140CT>TC	uc011cez.2	+	2	508_509	c.103_104CT>TC	c.(103-105)cta>TCa	p.L35S	TET2_uc003hxk.3_Missense_Mutation_p.L14S|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.L14S|TET2_uc010ilp.2_Missense_Mutation_p.L14S|TET2_uc021xql.1_Missense_Mutation_p.L14S	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	14					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.L34F(2)		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)		GGGCAACAGACTAAGTCCATTC	0.505000			"""Mis N, F"""		MDS									9			5		0	0	1	0	0
C15orf41	84529	broad.mit.edu	37	15	37100621	37100621	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:37100621G>A	uc001zje.4	+	10	1063	c.813G>A	c.(811-813)acG>acA	p.T271T	C15orf41_uc010bbb.1_Silent_p.T173T|C15orf41_uc001zjf.3_Silent_p.T173T|C15orf41_uc010uci.2_Silent_p.T173T|CSNK1A1P1_uc001zjg.4_Intron	NM_001130010	NP_115888	Q9Y2V0	CO041_HUMAN	Homo sapiens chromosome 15 open reading frame 41 (C15orf41), transcript variant 1, mRNA.	271							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GTTTCCCCACGAACATTGTCA	0.493000														18			7		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064760	7064760	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:7064760G>A	uc001mfb.1	+	3	1826	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	501					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGGAAGCTGGGAACCCTTCCT	0.428000														40			19		0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8790682	8790682	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:8790682G>A	uc003srv.3	+	2	1010	c.99G>A	c.(97-99)ctG>ctA	p.L33L	NXPH1_uc011jxh.2_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	33	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CAGAACTTCTGAAATCAGGAA	0.428000														41			20		0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183909041	183909041	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:183909041G>A	uc003fmz.2	+	15	1700	c.1567G>A	c.(1567-1569)Gtg>Atg	p.V523M	ABCF3_uc003fna.2_Missense_Mutation_p.V517M|ABCF3_uc003fnb.2_Missense_Mutation_p.V204M	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	523	ABC transporter 2.						ATP binding|ATPase activity	p.C522C(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCGCATCTGTGTGGTAAGGCT	0.537000														82			48		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475859	120475859	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:120475859G>A	uc004bjz.3	+	2	1744	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	TLR4_uc004bkb.3_Missense_Mutation_p.E285K|TLR4_uc004bka.3_Missense_Mutation_p.E445K	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	485					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTCTTTCCAGGAAAACTTCCT	0.448000														32			22		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13423526	13423526	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:13423526G>A	uc002mwy.3	-	11	1861	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	CACNA1A_uc010dzc.2_Missense_Mutation_p.T68M|CACNA1A_uc010xnd.2_Missense_Mutation_p.T542M|CACNA1A_uc021ups.1_Missense_Mutation_p.T542M|CACNA1A_uc010xne.2_Missense_Mutation_p.T542M|CACNA1A_uc010dze.2_Missense_Mutation_p.T542M|CACNA1A_uc021upt.1_Missense_Mutation_p.T543M	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	543					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.T543M(3)|p.T542M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTAAGGCCGCGTCCCAAGCCC	0.438000														32			12		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45907730	45907730	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:45907730G>A	uc001jce.3	+	3	622	c.523G>A	c.(523-525)Gga>Aga	p.G175R	ALOX5_uc009xmt.3_Missense_Mutation_p.G175R|ALOX5_uc010qfg.2_Missense_Mutation_p.G175R|ALOX5_uc021ppr.1_Missense_Mutation_p.G175R	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	175	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TAGTGAAAAAGGAGTGGACTT	0.517000														21			11		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42090748	42090748	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:42090748T>C	uc002ore.4	+	3	845	c.749T>C	c.(748-750)cTt>cCt	p.L250P	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.L249P	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	250						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GTTGGGAGTCTTCTGGTGGCT	0.552000														2			12		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650906	90650906	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:90650906C>T	uc001xye.1	+	1	1228	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	262						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTGCCAACTTCGTCTTCATCC	0.493000														6			29		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867051	6867051	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:6867051C>T	uc001met.1	+	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAGCCTCATCATTCTGGTTA	0.443000														93			63		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8564138	8564138	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:8564138G>A	uc002mkd.3	-	1	617	c.554C>T	c.(553-555)tCc>tTc	p.S185F		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	233	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GAATGCGCCGGATTTGGGTTC	0.677000														4			20		0	0	1	0	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22618176	22618176	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:22618176C>T	uc009xkg.3	+	13	1150	c.1115C>T	c.(1114-1116)cCt>cTt	p.P372L	COMMD3-BMI1_uc001irh.3_Missense_Mutation_p.P229L	NM_001204062	NP_001190991	P35226	BMI1_HUMAN	Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.	229					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	PcG protein complex|cytoplasm|nucleolus|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										AGAGTTCGACCTACTTGTAAA	0.378000														22			9		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176318163	176318164	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:176318163_176318164CC>AT	uc003mfa.3	-	3	380_381	c.288_289GG>AT	c.(286-291)ctgggg>ctATgg	p.G97W	HK3_uc003mez.3_5'Flank	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	97	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGTGGCCCCCAGCTCCAGCA	0.589000														12			11		0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	233198666	233198666	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:233198666C>T	uc010fxz.3	+	16	2403	c.2127C>T	c.(2125-2127)gtC>gtT	p.V709V	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	709							RNA binding|exonuclease activity|ribonuclease activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTGCCGACGTCCTGGTGCACC	0.692000														45			29		0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94223639	94223639	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:94223639C>A	uc001kia.3	-	20	2686	c.2610G>T	c.(2608-2610)atG>atT	p.M870I	IDE_uc010qnp.2_Missense_Mutation_p.M315I|IDE_uc001khz.3_Missense_Mutation_p.M315I	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	870					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGACTTTTCCATGGTAATTA	0.443000														32			52		6.34439e-16	6.4349e-16	1	1	0
PCNP	57092	broad.mit.edu	37	3	101298752	101298752	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:101298752C>T	uc003dva.3	+	1	201	c.183C>T	c.(181-183)ctC>ctT	p.L61L	PCNP_uc003dvb.3_Non-coding_Transcript|PCNP_uc003dvc.3_Intron|PCNP_uc003dvd.3_Silent_p.L61L	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN	Homo sapiens PEST proteolytic signal containing nuclear protein (PCNP), mRNA.	61					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						CTGCCGACCTCCCAACAAAGC	0.453000														44			24		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465622	10465622	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:10465622C>T	uc003wtc.3	-	3	6215	c.5986G>A	c.(5986-5988)Gag>Aag	p.E1996K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1996					intracellular signal transduction			p.P1995S(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTTCTGACTCTGGCTGGGCC	0.607000														169			111		0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17706476	17706476	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:17706476G>A	uc001bak.1	+	3	429	c.429G>A	c.(427-429)caG>caA	p.Q143Q		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	135					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTGACAAACAGGCTAAGGTGA	0.527000														9			21		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53957769	53957769	+	Splice_Site	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:53957769C>T	uc002acj.2	-	14	2004	c.1962_splice	c.e14+1	p.K654_splice	WDR72_uc010bfi.1_Splice_Site_p.K654_splice	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	654										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)		TTGAACTTACCTTACATGAAG	0.408000														29			11		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36884182	36884182	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:36884182G>A	uc003cgj.3	-	16	5327	c.5079C>T	c.(5077-5079)ttC>ttT	p.F1693F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1693					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						AGGTCTTAACGAACATGCTAT	0.463000														12			6		0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1395287	1395288	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:1395287_1395288CC>TT	uc002clk.2	+	21	2241_2242	c.2083_2084CC>TT	c.(2083-2085)ccc>TTc	p.P695F	BAIAP3_uc010uuz.2_Missense_Mutation_p.P660F|BAIAP3_uc010uva.2_Missense_Mutation_p.P632F|BAIAP3_uc021tag.1_Missense_Mutation_p.P637F|BAIAP3_uc002clj.3_Missense_Mutation_p.P677F|BAIAP3_uc010uvc.1_Missense_Mutation_p.P624F	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	695	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.A694T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CATCCACGCCCCCTTCCTGCCT	0.644000														32			38		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148601470	148601470	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:148601470G>A	uc003ewm.3	+	8	901	c.849G>A	c.(847-849)acG>acA	p.T283T		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	283					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGAAAGAGACGAAAGCTGTCA	0.448000														17			27		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634333	122634333	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:122634333C>T	uc003efz.1	-	13	2246	c.1942G>A	c.(1942-1944)Ggc>Agc	p.G648S	SEMA5B_uc011bju.1_Missense_Mutation_p.G590S|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.G648S|SEMA5B_uc010hro.1_Missense_Mutation_p.G590S	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	648					cell differentiation|nervous system development	integral to membrane	receptor activity	p.G647V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGTCAAGGCCCCCACAGCGG	0.597000														32			20		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8492909	8492909	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:8492909C>T	uc003zkk.3	-	26	3163	c.2420G>A	c.(2419-2421)gGa>gAa	p.G807E	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	807	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGCACCATCTCCTTTGGTTGT	0.458000										TSP Lung(15;0.13)				13			26		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49225200	49225200	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:49225200C>T	uc010zyt.2	-	9	1011	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.E250K|FAM65C_uc002xvn.1_Missense_Mutation_p.E250K	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	250										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCTCCTCTTCGTCCCAGGTC	0.652000														79			52		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430961	179430961	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:179430961A>C	uc021vsy.1	-	274	72419	c.72194T>G	c.(72193-72195)tTc>tGc	p.F24065C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.F17760C|TTN_uc021vta.1_Missense_Mutation_p.F17693C|TTN_uc021vtb.1_Missense_Mutation_p.F17568C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24992	Fibronectin type-III 75.						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)			CTTATCTGTGAATTCACCTTC	0.393000														55			38		0	0	1	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197395	26197395	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:26197395C>T	uc003ngv.3	-	1	481	c.84G>A	c.(82-84)aaG>aaA	p.K28K	HIST1H3D_uc021ymt.1_Silent_p.K28K|HIST1H2BF_uc003ngx.3_5'Flank	NM_003530	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3d (HIST1H3D), mRNA.	28					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.R27G(2)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CTGGAGCGCTCTTTCGAGCAG	0.652000														29			33		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757947	242757947	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:242757947G>A	uc002wcp.2	+	3	1561	c.1067G>A	c.(1066-1068)gGc>gAc	p.G356D	NEU4_uc010fzr.3_Missense_Mutation_p.G343D|NEU4_uc002wcm.3_Missense_Mutation_p.G343D|NEU4_uc002wco.2_Missense_Mutation_p.G343D|NEU4_uc002wcn.2_Missense_Mutation_p.G355D	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	343	Pro-rich.					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CGGGGGGATGGCCCCAGGCAG	0.721000														8			5		0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158294191	158294191	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:158294191C>T	uc003qqv.1	+	2	330	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	53	SH3.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AGGGCTGGTTCCCACAGACTA	0.388000														5			8		0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17053473	17053474	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:17053473_17053474GG>AA	uc002gqv.2	+	11	1380_1381	c.1291_1292GG>AA	c.(1291-1293)gga>AAa	p.G431K	MPRIP_uc002gqu.2_Missense_Mutation_p.G431K|MPRIP_uc002gqw.2_Missense_Mutation_p.G186K	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	431	PH 2.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CGACTTGGATGGAGAAATTGAC	0.460000														31			55		0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195605956	195605956	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:195605956G>A	uc003fvu.1	-	6	1521	c.978C>T	c.(976-978)taC>taT	p.Y326Y	TNK2_uc003fvs.1_Silent_p.Y358Y|TNK2_uc003fvt.1_Silent_p.Y389Y|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Silent_p.Y156Y|TNK2_uc010hzx.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	326	Protein kinase.			TRTFSHASDTWMFGVTLWEMFTYGQEPWIGLNGSQILHKID KEGERLPR -> PPWRDISASSSTQFPHAVPCFPTSLLAKL LLRHSVPASSREIKLVSILC (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCTCCTGGCCGTAGGTGAACA	0.637000														96			4		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12343269	12343269	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:12343269G>A	uc001atv.3	+	20	5251	c.5110G>A	c.(5110-5112)Gaa>Aaa	p.E1704K	VPS13D_uc001atw.3_Missense_Mutation_p.E1704K|VPS13D_uc001atx.3_Missense_Mutation_p.E892K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1704					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCACAAAAAGAATACCTTTC	0.453000														14			53		0	0	1	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989587	22989587	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:22989587C>T	uc010gts.2	+	2	473	c.439C>T	c.(439-441)Cct>Tct	p.P147S	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Intron	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA.	119					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		CCCTTTTCTCCCTGGCCGTGC	0.622000														61			36		0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50357541	50357541	+	Nonsense_Mutation	SNP	A	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:50357541A>C	uc021thx.1	-	11	1560	c.1400T>G	c.(1399-1401)tTa>tGa	p.L467*	BRD7_uc002ege.2_Nonsense_Mutation_p.L467*	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	467					Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCCTTTTGTTAAAACATCCAG	0.413000														7			11		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282145	152282145	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:152282145C>T	uc001ezu.1	-	2	5253	c.5217G>A	c.(5215-5217)caG>caA	p.Q1739Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1739	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCCCAGCCTGTCCGTGGG	0.597000									Ichthyosis					41			231		0	0	1	0	0
NKX3-1	4824	broad.mit.edu	37	8	23538747	23538747	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:23538747G>A	uc011kzx.2	-	1	740	c.692C>T	c.(691-693)cCa>cTa	p.P231L	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	Homo sapiens NK3 homeobox 1 (NKX3-1), transcript variant 1, mRNA.	231					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CCAAAAAGCTGGGCTCCAGCT	0.552000														27			13		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515384	233515384	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:233515384C>T	uc001hvt.4	+	8	2893	c.2632C>T	c.(2632-2634)Cct>Tct	p.P878S	KIAA1804_uc001hvu.4_Missense_Mutation_p.P324S	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	878					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TGGGAATGTACCTTACTGTGC	0.458000														13			40		0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124751486	124751486	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:124751486G>A	uc011lyl.2	-	3	1715	c.1527C>T	c.(1525-1527)ccC>ccT	p.P509P	TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc011lym.1_Silent_p.P186P|TTLL11_uc004blt.1_Silent_p.P509P|TTLL11_uc004blu.1_3'UTR	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	509	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GGAAGCACGTGGGGCCCGGCC	0.592000														60			25		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204408122	204408122	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:204408122C>T	uc001haw.3	-	23	3936	c.3457G>A	c.(3457-3459)Gac>Aac	p.D1153N	PIK3C2B_uc010pqv.2_Missense_Mutation_p.D1125N	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1153	PI3K/PI4K.				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)			AGGGGCCGGTCCTTGAACGAG	0.597000														8			16		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196963330	196963330	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:196963330C>T	uc001gts.4	+	3	679	c.551C>T	c.(550-552)tCa>tTa	p.S184L		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	184	Sushi 3.				complement activation, alternative pathway	extracellular region		p.G183V(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGAGTTGGATCAGACTCAGTT	0.343000														13			52		0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839576	15839576	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:15839576C>T	uc002nbm.2	+	0	743	c.723C>T	c.(721-723)acC>acT	p.T241T		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CCTTCTCCACCTGTGCCTCTC	0.537000														19			27		0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88419664	88419664	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:88419664C>T	uc010qmk.1	+	6	1073	c.846C>T	c.(844-846)acC>acT	p.T282T	OPN4_uc001kdp.3_Silent_p.T282T|OPN4_uc001kdq.3_Silent_p.T271T|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	271					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						CTCTCCAGACCTTCGGGGCCT	0.637000														8			15		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67079132	67079133	+	Silent	DNP	GG	AA	AA			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:67079132_67079133GG>AA	uc002jhw.1	-	35	4672_4673	c.4497_4498CC>TT	c.(4495-4500)cacctg>caTTtg	p.1499_1500HL>HL		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1499	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTGTTTTTCAGGTGTTGGATGG	0.356000														102			64		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32367040	32367040	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:32367040G>A	uc001utt.3	+	15	1672	c.1601G>A	c.(1600-1602)gGa>gAa	p.G534E	RXFP2_uc010aba.3_Missense_Mutation_p.G510E	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	534						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATTCGACCTGGAAAACGGCAG	0.433000														34			11		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176619	41176619	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:41176619C>T	uc003jmk.2	-	7	1336	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	C6_uc003jml.1_Missense_Mutation_p.D376N|RN7SK_uc021xxu.1_5'Flank	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	376	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAGAGAAGGTCATACACGCCT	0.418000														6			14		0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39760939	39760939	+	Silent	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:39760939A>G	uc001rly.3	-	4	1048	c.628T>C	c.(628-630)Tta>Cta	p.L210L	KIF21A_uc001rlx.3_Silent_p.L210L|KIF21A_uc001rlz.3_Silent_p.L210L|KIF21A_uc010skl.2_Silent_p.L210L	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	210	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTCCGGGATAAAGCACCCAAC	0.413000														22			16		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681084	100681084	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:100681084C>T	uc003uxp.1	+	2	6440	c.6387C>T	c.(6385-6387)tcC>tcT	p.S2129S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2129	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)					CTGTTGACTCCAACAGTCCTG	0.478000														143			82		0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140082264	140082264	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:140082264G>A	uc004clr.1	-	1	482	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	ANAPC2_uc004clq.1_5'UTR|ANAPC2_uc011mer.1_Missense_Mutation_p.R137C|SSNA1_uc004cls.2_5'Flank	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		AAGCCCAGGCGAGTCCATTTC	0.582000														48			19		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45644851	45644851	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:45644851C>T	uc002xsm.3	+	4	704	c.330C>T	c.(328-330)tcC>tcT	p.S110S	EYA2_uc010ghp.3_Silent_p.S110S|EYA2_uc002xsq.3_Silent_p.S110S	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	110					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)				TGAACCATTCCCCTGGCCAGA	0.532000														45			40		0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29683075	29683075	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:29683075C>T	uc003aet.3	+	6	1073	c.745C>T	c.(745-747)Caa>Taa	p.Q249*	EWSR1_uc003aes.4_Nonsense_Mutation_p.Q249*|EWSR1_uc003aev.3_Nonsense_Mutation_p.Q255*|EWSR1_uc003aex.3_Nonsense_Mutation_p.Q249*|EWSR1_uc003aew.3_Nonsense_Mutation_p.Q193*|EWSR1_uc003aey.3_Nonsense_Mutation_p.Q44*|EWSR1_uc003aez.3_5'Flank	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	249	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCCTACAGCCAAGCTCCAAG	0.483000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""									24			13		0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205130	61205130	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:61205130C>T	uc001nrt.3	+	1	92	c.70C>T	c.(70-72)Cct>Tct	p.P24S		NM_017841	NP_060311	Q9NX18	SDHF2_HUMAN	Homo sapiens succinate dehydrogenase complex assembly factor 2 (SDHAF2), nuclear gene encoding mitochondrial protein, mRNA.	24					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding	p.P24H(1)		large_intestine(3)|lung(4)|ovary(2)	9						CCTATTGTCTCCTTTGCTCAG	0.433000														22			31		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037423	75037423	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:75037423C>T	uc001dgg.3	-	13	4190	c.3971G>A	c.(3970-3972)gGa>gAa	p.G1324E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1324	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTGTGTGTTTCCTTCTCCTTC	0.557000														14			28		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109937506	109937506	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:109937506T>A	uc001top.3	+	11	1612	c.1009T>A	c.(1009-1011)Ttg>Atg	p.L337M	UBE3B_uc001toq.3_Missense_Mutation_p.L337M|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.L337M	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	337					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GTTCGTGAGTTTGCTCACCCA	0.552000														11			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599569	179599569	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:179599569C>T	uc021vsy.1	-	47	11575	c.11350G>A	c.(11350-11352)Gtc>Atc	p.V3784I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V445I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4711							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)			TACATTCGGACTGTGTTACTT	0.423000														23			20		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40588755	40588755	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:40588755C>T	uc001zld.3	-	14	1868	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	PLCB2_uc010bbo.3_Missense_Mutation_p.E519K|PLCB2_uc010ucm.2_Missense_Mutation_p.E523K	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	523	Glu-rich.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ATCTCTTCTTCATCCAGGTTT	0.587000														11			9		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974600	16974600	+	RNA	SNP	T	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:16974600T>C	uc010och.2	+	6		c.1060T>C			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCCCGACGGCTCAGAGGCGCC	0.667000														93			14		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14779961	14779961	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:14779961C>T	uc010dlo.2	+	10	1603	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Nonsense_Mutation_p.Q475*	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	475										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATTTTTAGATCAGATGTTCCC	0.289000														23			5		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138447094	138447094	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:138447094C>T	uc003vuf.3	-	5	741	c.503G>A	c.(502-504)gGa>gAa	p.G168E	ATP6V0A4_uc003vug.3_Missense_Mutation_p.G168E|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.G168E	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	168					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCCAACTTTCCGGTCATATA	0.458000														27			17		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354196	10354196	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:10354196C>T	uc002gmn.3	-	28	3993	c.3882G>A	c.(3880-3882)caG>caA	p.Q1294Q	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1294					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTCATCTAGCTGTCGTGAAA	0.368000														17			21		0	0	1	0	0
BC139719	0	broad.mit.edu	37	16	90161555	90161555	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:90161555C>T	uc002fqq.3	+	3	481	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	BC139719_uc002fqp.3_Missense_Mutation_p.R144W					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		AGTGTGGGGCCGGAAACAACT	0.572000														8			7		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540534	169540534	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:169540534C>T	uc003fgb.3	+	0	825	c.825C>T	c.(823-825)ctC>ctT	p.L275L		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	275										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGCCACGCCTCATTTGCAGGT	0.632000														23			11		0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41903159	41903159	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:41903159G>A	uc002ieh.3	-	6	910	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	MPP3_uc002iei.4_Silent_p.L192L|MPP3_uc002iej.3_Non-coding_Transcript|MPP3_uc010czi.2_Silent_p.L192L|MPP3_uc010wik.2_Silent_p.L217L	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	192					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CGCTTGTGCAGGACTGCGATC	0.597000														19			15		0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	994111	994111	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:994111G>T	uc001lst.2	+	13	2038	c.1825G>T	c.(1825-1827)Gag>Tag	p.E609*	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Nonsense_Mutation_p.E608*	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	608					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCGGAGCGGGAGTCCTCCAT	0.627000														46			24		4.7796e-09	4.82028e-09	1	1	0
DDX41	51428	broad.mit.edu	37	5	176941974	176941974	+	Silent	SNP	C	T	T	rs143274979	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:176941974C>T	uc003mho.3	-	7	762	c.741G>A	c.(739-741)gaG>gaA	p.E247E	DDX41_uc003mhn.3_Silent_p.E116E|DDX41_uc003mhp.3_Silent_p.E116E|DDX41_uc003mhq.1_Silent_p.E27E	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	247	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GTAACCTCTTCTCTTGTTCCA	0.562000														6			13		0	0	1	0	0
CD58	965	broad.mit.edu	37	1	117078713	117078713	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:117078713G>A	uc001egm.3	-	2	623	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Missense_Mutation_p.R168C|CD58_uc001ego.1_Intron|CD58_uc001egp.4_Missense_Mutation_p.R168C	NM_001779	NP_001770	P19256	LFA3_HUMAN	Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.	168	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GTTGAGTTACGTTTACATTGC	0.343000														9			18		0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52981550	52981550	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:52981550A>C	uc001sar.2	-	6	1261	c.1175T>G	c.(1174-1176)cTg>cGg	p.L392R	KRT72_uc001saq.2_Missense_Mutation_p.L392R|KRT72_uc010sns.1_Missense_Mutation_p.L350R|KRT72_uc010snt.1_Missense_Mutation_p.L204R	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	392	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GGCGCCCTCCAGCTCATCCAG	0.657000														46			23		0	0	1	0	0
RAB39A	54734	broad.mit.edu	37	11	107832686	107832686	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:107832686C>T	uc001pjt.3	+	1	260	c.242C>T	c.(241-243)tCt>tTt	p.S81F		NM_017516	NP_059986	Q14964	RB39A_HUMAN	Homo sapiens RAB39A, member RAS oncogene family (RAB39A), mRNA.	81					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding										ATAACCCGATCTTATTACCGC	0.333000														8			15		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86493647	86493647	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:86493647C>T	uc003uid.3	+	5	3715	c.2616C>T	c.(2614-2616)ctC>ctT	p.L872L	GRM3_uc010lef.3_Nonsense_Mutation_p.R515*|GRM3_uc010leg.3_Silent_p.L744L|GRM3_uc010leh.3_Silent_p.L464L	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	872					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGGAAGTCCTCGACTCCACCA	0.468000														52			26		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052973	44052973	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:44052973C>T	uc001jaw.4	-	1	1208	c.555G>A	c.(553-555)ggG>ggA	p.G185G	ZNF239_uc001jax.4_Silent_p.G185G|ZNF239_uc009xmj.3_Silent_p.G185G|ZNF239_uc009xmk.3_Silent_p.G185G|ZNF239_uc021pph.1_Silent_p.G185G	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	185					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						TAAGTATTTTCCCACAGTTAT	0.423000														52			24		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47084094	47084094	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:47084094G>A	uc003cqv.3	-	17	7482	c.7396C>T	c.(7396-7398)Cga>Tga	p.R2466*	SETD2_uc003cqs.3_Nonsense_Mutation_p.R2399*|SETD2_uc003cqr.3_5'UTR	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2399	Interaction with POLR2A.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R1896*(2)|p.R2399*(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTGGATCTCGAGCTGTCTTC	0.453000			"""N, F, S, Mis"""		clear cell renal carcinoma									41			25		0	0	1	0	0
VENTX	27287	broad.mit.edu	37	10	135053636	135053636	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:135053636C>T	uc010quy.1	+	2	614	c.603C>T	c.(601-603)tcC>tcT	p.S201S		NM_014468	NP_055283	O95231	VENTX_HUMAN	Homo sapiens VENT homeobox (VENTX), mRNA.	201					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCCCTGGCTCCTTCTGGGGTC	0.677000														6			14		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215812267	215812267	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:215812267A>T	uc002vew.3	-	47	7338	c.7118T>A	c.(7117-7119)cTc>cAc	p.L2373H	ABCA12_uc002vev.3_Missense_Mutation_p.L2055H|ABCA12_uc010zjn.2_Missense_Mutation_p.L1300H	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2373	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.K2372E(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTCCTAAGGAGTTTATGAAC	0.423000														13			15		0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51676022	51676022	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:51676022G>A	uc002aba.3	+	3	643	c.474G>A	c.(472-474)ttG>ttA	p.L158L	GLDN_uc010bez.1_Nonsense_Mutation_p.W141*|GLDN_uc002abb.3_Silent_p.L34L	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	158	Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		p.L158L(2)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ACAACGGATTGGATGGACAGC	0.433000														15			5		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43934621	43934621	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:43934621C>G	uc010yny.2	+	10	1986	c.1903C>G	c.(1903-1905)Cgg>Ggg	p.R635G	PLEKHH2_uc002rte.3_Missense_Mutation_p.R635G|PLEKHH2_uc002rtf.3_Missense_Mutation_p.R634G	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	635	Ser-rich.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATCCAGCTCCCGGACGTCAGA	0.537000														58			11		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79428724	79428724	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:79428724G>A	uc003hlb.2	+	61	9906	c.9466G>A	c.(9466-9468)Gag>Aag	p.E3156K	FRAS1_uc003hlc.1_Missense_Mutation_p.E158K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3151					cell communication	integral to membrane|plasma membrane	metal ion binding	p.Q3156*(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTAGACCAGGAGGCAGCAGG	0.502000														23			14		0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9453517	9453517	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:9453517C>T	uc002mle.4	+	5	1989	c.1582C>T	c.(1582-1584)Cca>Tca	p.P528S	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Missense_Mutation_p.P422S|ZNF559_uc010xkn.2_Missense_Mutation_p.P456S|ZNF559_uc021uok.1_Missense_Mutation_p.P464S|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AGGGGAGAGGCCATATAAATG	0.448000														4			37		0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101594193	101594193	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:101594193C>T	uc004ayz.3	+	3	871	c.871C>T	c.(871-873)Cct>Tct	p.P291S		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	291						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GCACACAGTTCCTGAGAGGGA	0.542000														11			5		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26962191	26962191	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:26962191G>A	uc002hbu.3	-	15	2517	c.2414C>T	c.(2413-2415)cCc>cTc	p.P805L		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	805						extracellular region		p.N804Y(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CGCAGGGAAGGGGTTCCGGTG	0.537000														17			37		0	0	1	0	0
C10orf35	219738	broad.mit.edu	37	10	71392759	71392759	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:71392759C>T	uc001jpq.4	+	3	480	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C		NM_145306	NP_660349	Q96D05	CJ035_HUMAN	Homo sapiens chromosome 10 open reading frame 35 (C10orf35), mRNA.	104						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GCTTGGTGTTCGTGGCCTCCT	0.587000														7			42		0	0	1	0	0
PITPNA	5306	broad.mit.edu	37	17	1451683	1451683	+	Splice_Site	SNP	T	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:1451683T>A	uc021tng.1	-	4	454	c.198_splice	c.e4-1	p.S66_splice	PITPNA_uc021tnf.1_Splice_Site|PITPNA_uc010cjt.3_Splice_Site|PITPNA_uc010vqn.1_Intron	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA.	66					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		GGTACTTTGCTATAGCGGGGA	0.488000														10			18		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50958897	50958897	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:50958897C>T	uc009xog.3	-	5	999	c.965G>A	c.(964-966)gGg>gAg	p.G322E	OGDHL_uc001jie.3_Missense_Mutation_p.G295E|OGDHL_uc010qgt.2_Missense_Mutation_p.G238E|OGDHL_uc010qgu.2_Missense_Mutation_p.G86E|OGDHL_uc009xoh.2_Missense_Mutation_p.G86E	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	295					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GTGTGGCATCCCCAAGATGAC	0.572000														8			7		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588812	247588812	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:247588812G>A	uc001icr.3	+	4	2205	c.2067G>A	c.(2065-2067)aaG>aaA	p.K689K	NLRP3_uc001ics.3_Silent_p.K689K|NLRP3_uc001icu.3_Silent_p.K689K|NLRP3_uc001icw.3_Silent_p.K689K|NLRP3_uc001icv.3_Silent_p.K689K|NLRP3_uc010pyw.2_Silent_p.K687K|NLRP3_uc001ict.1_Silent_p.K687K	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	689					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)			ACATGCCCAAGGAGGAAGAGG	0.512000														10			34		0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406777	144406777	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:144406777G>A	uc003yxz.3	-	5	713	c.694C>T	c.(694-696)Ccg>Tcg	p.P232S	TOP1MT_uc011lkd.2_Missense_Mutation_p.P134S|TOP1MT_uc011lke.2_Missense_Mutation_p.P134S|TOP1MT_uc011lkf.2_Missense_Mutation_p.P27S|TOP1MT_uc010mfd.1_Missense_Mutation_p.P27S	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	232					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding	p.P232P(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGCCCCGCCGGCGGCTCGGGG	0.562000														66			36		0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73238462	73238462	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:73238462C>T	uc001xnc.2	-	1	185	c.172G>A	c.(172-174)Gag>Aag	p.E58K	DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.E58K|DPF3_uc010ttq.1_Missense_Mutation_p.E68K	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	58					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGCCTCTTCTCCATCCAGATG	0.627000														10			20		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703813	4703813	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:4703813G>A	uc001lzk.2	-	1	373	c.129C>T	c.(127-129)atC>atT	p.I43I	OR51E2_uc021qcr.1_Silent_p.I43I	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGAAGACCACGATGCAGTTTC	0.507000														36			15		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396858	154396858	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:154396858C>T	uc010jih.1	+	0	3599	c.3439C>T	c.(3439-3441)Cct>Tct	p.P1147S		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1147	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGGAGGATCCTACCGAGGT	0.542000														11			15		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757862	242757862	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:242757862G>A	uc002wcp.2	+	3	1476	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	NEU4_uc010fzr.3_Missense_Mutation_p.E315K|NEU4_uc002wcm.3_Missense_Mutation_p.E315K|NEU4_uc002wco.2_Missense_Mutation_p.E315K|NEU4_uc002wcn.2_Missense_Mutation_p.E327K	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	315	Pro-rich.					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TGGAGTCCACGAACCCCCAGA	0.716000														11			4		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16975134	16975134	+	RNA	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:16975134C>T	uc010och.2	+	6		c.1594C>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGACCCCATTCGACTACTGTG	0.612000														86			12		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894377	166894377	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:166894377C>T	uc002udo.4	-	16	3082	c.2855G>A	c.(2854-2856)tGg>tAg	p.W952*	SCN1A_uc010fpk.3_Nonsense_Mutation_p.W924*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.W941*	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	952			W -> G (in SMEI; dbSNP:rs121918737).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTCTCTATCCACTCCCCACA	0.507000														91			48		0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155236	106155236	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:106155236C>T	uc011cez.2	+	2	605	c.200C>T	c.(199-201)cCa>cTa	p.P67L	TET2_uc003hxk.3_Missense_Mutation_p.P46L|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.P46L|TET2_uc010ilp.2_Missense_Mutation_p.P46L|TET2_uc021xql.1_Missense_Mutation_p.P46L	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	46					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)		AGAGCTCATCCAGAAGTAAAT	0.463000			"""Mis N, F"""		MDS									19			15		0	0	1	0	0
SUCLA2	8803	broad.mit.edu	37	13	48547523	48547523	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:48547523G>A	uc001vbs.3	-	4	596	c.539C>T	c.(538-540)cCt>cTt	p.P180L	SUCLA2_uc010tgb.2_Missense_Mutation_p.P120L|SUCLA2_uc010tgc.2_Missense_Mutation_p.P46L|SUCLA2_uc010tgd.2_Missense_Mutation_p.P120L	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA.	180	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TATTAATACAGGACCCTGGCA	0.368000														29			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221050	140221050	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:140221050C>T	uc003lhs.2	+	0	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.I48I	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	61	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)			TGGGCCGGATCGCGCAGGACC	0.657000														15			50		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18241854	18241854	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:18241854C>T	uc001rdq.3	-	2	286	c.92G>A	c.(91-93)gGa>gAa	p.G31E		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	31	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AGCATATTCTCCAATGAATCG	0.328000														37			19		0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201305434	201305434	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:201305434C>T	uc010zhc.2	+	7	928	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	SPATS2L_uc002uvn.4_Missense_Mutation_p.R239C|SPATS2L_uc010fst.3_Missense_Mutation_p.R239C|SPATS2L_uc002uvo.4_Missense_Mutation_p.R179C|SPATS2L_uc002uvp.4_Missense_Mutation_p.R239C|SPATS2L_uc002uvq.4_Missense_Mutation_p.R170C|SPATS2L_uc002uvr.4_Missense_Mutation_p.R239C	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	239						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AACTAGATATCGCGTCATGAT	0.378000														25			16		0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18851151	18851151	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:18851151G>A	uc002dfm.3	-	41	7177	c.6814C>T	c.(6814-6816)Cgt>Tgt	p.R2272C	SMG1_uc010bwb.3_Missense_Mutation_p.R2132C|SMG1_uc010bwa.3_Missense_Mutation_p.R1003C|SMG1_uc021ted.1_Missense_Mutation_p.R570C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2272	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAATCCCGACGGGACACATCC	0.483000														12			4		0	0	1	0	0
GNLY	10578	broad.mit.edu	37	2	85923104	85923104	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:85923104G>A	uc002sql.4	+	2	308	c.180G>A	c.(178-180)caG>caA	p.Q60Q	GNLY_uc010fgp.3_Silent_p.Q45Q|GNLY_uc010ysx.2_Silent_p.Q87Q	NM_006433	NP_006424	P22749	GNLY_HUMAN	Homo sapiens granulysin (GNLY), transcript variant NKG5, mRNA.	60					cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						CCAAAACACAGGAGCTGGGCC	0.552000														9			8		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20062514	20062514	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:20062514T>C	uc010nfo.2	-	6	964	c.847A>G	c.(847-849)Aaa>Gaa	p.K283E	MAP7D2_uc004czq.2_Missense_Mutation_p.K127E|MAP7D2_uc011mji.2_Missense_Mutation_p.K190E|MAP7D2_uc004czr.2_Missense_Mutation_p.K242E|MAP7D2_uc011mjj.2_Missense_Mutation_p.K197E	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	242										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGGGCTTCTTTCCCAACATCT	0.473000														9			47		0	0	1	0	0
GDNF	2668	broad.mit.edu	37	5	37815977	37815977	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:37815977C>T	uc011cpi.2	-	2	612	c.412G>A	c.(412-414)Gag>Aag	p.E138K	GDNF_uc011cpd.2_Missense_Mutation_p.E86K|GDNF_uc011cpe.2_Missense_Mutation_p.E112K|GDNF_uc011cpf.2_Missense_Mutation_p.E112K|GDNF_uc011cpg.2_Missense_Mutation_p.E155K|GDNF_uc011cph.2_Missense_Mutation_p.E129K	NM_000514	NP_000505	P39905	GDNF_HUMAN	Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.	138					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					ATCAGTTCCTCCTTGGTTTCA	0.458000														15			27		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143094815	143094815	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:143094815G>A	uc003qjd.3	-	4	1804	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGTATTTAAAGATGGATTTGG	0.418000														31			53		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34066550	34066550	+	Silent	SNP	T	C	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr21:34066550T>C	uc002yqh.2	-	5	894	c.894A>G	c.(892-894)caA>caG	p.Q298Q	SYNJ1_uc011ads.1_Silent_p.Q259Q|SYNJ1_uc002yqf.2_Silent_p.Q259Q|SYNJ1_uc002yqg.2_Silent_p.Q259Q|SYNJ1_uc002yqi.2_Silent_p.Q298Q	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	259	SAC.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCAACCCTGGTTGCTCCCAGA	0.303000														9			8		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099259	168099259	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:168099259C>T	uc002udx.3	+	8	1446	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P278S|XIRP2_uc010fpq.3_Missense_Mutation_p.P231S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	278					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						AGAAGAATTTCCTCCTCCCCC	0.458000														29			26		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810303	106810303	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:106810303G>A	uc009yxn.1	-	3	1479	c.1089C>T	c.(1087-1089)tgC>tgT	p.C363C	GUCY1A2_uc001pjg.1_Silent_p.C363C|GUCY1A2_uc010rvo.1_Silent_p.C363C	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	363					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CAATCTCGAAGCAGTCCTCAA	0.488000														11			12		0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	2082309	2082309	+	Silent	SNP	A	G	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:2082309A>G	uc001aiq.3	+	8	929	c.768A>G	c.(766-768)agA>agG	p.R256R	PRKCZ_uc001air.3_Silent_p.R73R|PRKCZ_uc010nyw.2_Silent_p.R152R|PRKCZ_uc001ais.3_Silent_p.R73R|PRKCZ_uc010nyx.2_Non-coding_Transcript|PRKCZ_uc009vlb.3_Silent_p.R69R	NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	256	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		ACCTAATCAGAGTCATCGGGC	0.512000														6			33		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222512	27222512	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:27222512C>T	uc003nja.3	+	9	1206	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Silent_p.L140L|PRSS16_uc003njd.3_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	397					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCTCCCAGCTCCCAGCACTGC	0.547000														58			35		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575908	52575908	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:52575908T>A	uc001jjj.3	-	8	1187	c.999A>T	c.(997-999)caA>caT	p.Q333H	A1CF_uc010qho.2_Missense_Mutation_p.Q341H|A1CF_uc010qhn.2_Missense_Mutation_p.Q341H|A1CF_uc009xov.3_Missense_Mutation_p.Q333H|A1CF_uc001jji.3_Missense_Mutation_p.Q333H|A1CF_uc001jjh.3_Missense_Mutation_p.Q341H	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	333					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GATCATAAACTTGGCCCAAAG	0.512000														20			17		0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40343132	40343132	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:40343132G>A	uc003ayh.2	+	1	285	c.22G>A	c.(22-24)Gat>Aat	p.D8N	GRAP2_uc011aom.2_Intron|GRAP2_uc011aon.2_Intron|GRAP2_uc010gya.2_Missense_Mutation_p.D8N|GRAP2_uc011aoo.2_5'UTR|GRAP2_uc011aop.2_Missense_Mutation_p.D8N|GRAP2_uc011aoq.2_Intron|GRAP2_uc003ayj.2_Missense_Mutation_p.D8N	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	8	SH3 1.				Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGCCAAGTTTGATTTCACTGC	0.522000														43			25		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101597712	101597712	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:101597712G>A	uc003knm.3	-	4	1212	c.925C>T	c.(925-927)Cga>Tga	p.R309*		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	309					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.R309Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCCAACCATCGCGGATCATCC	0.358000														6			15		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169317203	169317203	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:169317203G>A	uc021xuh.1	-	25	3674	c.3564C>T	c.(3562-3564)ttC>ttT	p.F1188F	DDX60L_uc003irq.4_Silent_p.F1188F|DDX60L_uc003irr.1_Silent_p.F1189F|DDX60L_uc003irs.1_Silent_p.F883F	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1188							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GATTCTCCAGGAAATTAATAT	0.333000														8			12		0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65275027	65275027	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:65275027C>T	uc003hcv.3	-	0	152	c.43G>A	c.(43-45)Gca>Aca	p.A15T	TECRL_uc003hcw.3_Missense_Mutation_p.A15T	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	15					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GAAAGTAATGCTCTCTTGCGT	0.433000														15			25		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102751345	102751345	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:102751345C>T	uc003hvy.4	+	1	725	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	BANK1_uc003hvx.4_Nonsense_Mutation_p.Q136*|BANK1_uc010ill.3_Intron|BANK1_uc003hvz.4_Nonsense_Mutation_p.Q121*	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	151	Interaction with ITPR2.				B cell activation			p.I150I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTCTGTAATCCAGAGTATCAT	0.318000														29			26		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720628	50720628	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:50720628G>A	uc003bkv.4	-	18	3195	c.3102C>T	c.(3100-3102)tcC>tcT	p.S1034S	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_Silent_p.S19S	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1034	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.P1033R(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGGCTGCAGGGATTCAGCCT	0.687000														15			13		0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95542340	95542340	+	Silent	SNP	A	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:95542340A>T	uc002stw.1	+	5	1227	c.1134A>T	c.(1132-1134)gcA>gcT	p.A378A	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	378					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCCTCACAGCACTGCGAGAGA	0.597000														9			3		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753784	49753784	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:49753784C>T	uc003ozu.3	-	0	1270	c.1117G>A	c.(1117-1119)Ggt>Agt	p.G373S		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	373					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)					GTGTCTCCACCCCCTATAACA	0.488000														74			26		0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79256034	79256034	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:79256034G>A	uc002jzz.1	-	4	831	c.456C>T	c.(454-456)tcC>tcT	p.S152S	SLC38A10_uc002jzy.1_Silent_p.S70S|SLC38A10_uc002kab.3_Silent_p.S152S	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	152					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGCGCTGAAGGACTGGATGG	0.627000														43			24		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61558990	61558990	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:61558990C>T	uc002jau.2	+	6	1043	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	ACE_uc010wpi.2_Missense_Mutation_p.P337S|ACE_uc010ddu.2_Missense_Mutation_p.P154S	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	337	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGAGCTCTCCCCCATGCCTCC	0.657000														27			16		0	0	1	0	0
CDK7	1022	broad.mit.edu	37	5	68568843	68568843	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:68568843C>T	uc003jvs.4	+	9	1020	c.839C>T	c.(838-840)cCa>cTa	p.P280L	CDK7_uc021xzo.1_Missense_Mutation_p.P280L|CDK7_uc003jvt.4_Missense_Mutation_p.P239L	NM_001799	NP_001790	P50613	CDK7_HUMAN	Homo sapiens cyclin-dependent kinase 7 (CDK7), mRNA.	280	Protein kinase.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell division|cell proliferation|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|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	holo TFIIH complex|mitochondrion	ATP binding|DNA-dependent ATPase activity|RNA polymerase II carboxy-terminal domain kinase activity|androgen receptor binding|cyclin-dependent protein kinase activity|protein C-terminus binding|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TTATTTAATCCATGTGCTCGA	0.338000								Nucleotide excision repair (NER)						9			22		0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726524	25726524	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:25726524G>A	uc003nfc.3	-	0	267	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	78					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R78H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GGAATAATGCGAGTTTTTTTG	0.542000														52			27		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109865368	109865368	+	Silent	SNP	G	A	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:109865368G>A	uc010sxn.1	+	17	1878	c.1878G>A	c.(1876-1878)agG>agA	p.R626R		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CATACCGAAGGAAATACGAGC	0.443000														113			60		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914883	39914883	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:39914883C>T	uc010xuz.2	+	18	3435	c.3110C>T	c.(3109-3111)cCt>cTt	p.P1037L	PLEKHG2_uc010xuy.2_Missense_Mutation_p.P978L|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.P815L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1037					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTCACCACCCCTGTGCCCAAG	0.542000														17			70		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125804247	125804247	+	Silent	SNP	C	T	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:125804247C>T	uc001lhn.3	-	2	1469	c.735G>A	c.(733-735)ggG>ggA	p.G245G	CHST15_uc001lhm.3_Silent_p.G245G|CHST15_uc010que.2_Silent_p.G245G|CHST15_uc001lho.3_Silent_p.G245G	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	245					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GGAAGTGCTTCCCGTGCGCGT	0.657000														3			7		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971092	21971096	+	Frame_Shift_Del	DEL	CCCTC	-	-	rs137854599		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:21971092_21971096delCCCTC	uc003zpk.3	-	1	568_572	c.262_266delGAGGG	c.(262-267)gagggcfs	p.E88fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Del_p.E88fs|CDKN2A_uc003zpl.3_Frame_Shift_Del_p.G102fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	88			E -> D (in a biliary tract tumor).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(30)|p.E88E(12)|p.G89S(8)|p.E88K(6)|p.E88D(4)|p.V82_G89>G(2)|p.E88A(2)|p.E88G(2)|p.E88V(2)|p.V82_E88del(2)|p.D84_F90del(2)|p.G89fs*57(2)|p.E87K(2)|p.G89V(2)|p.E61_L94del(2)|p.H83fs*2(2)|p.G143V(1)|p.R87fs*59(1)|p.G89G(1)|p.A68fs*3(1)|p.0(1)|p.R137fs*48(1)|p.R87L(1)|p.R87Q(1)|p.R87W(1)|p.R87fs(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTCCAGGAAGCCCTCCCGGGCAGCG	0.761	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	7	---	---	8	---					
CHST1	8534	broad.mit.edu	37	11	45672090	45672116	+	In_Frame_Del	DEL	GTAGAGGCTCCGCAGGAGGTCGCGGCT	-	-	rs143571003	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:45672090_45672116delGTAGAGGCTCCGCAGGAGGTCGCGGCT	uc021qgn.1	-	0	358_384	c.358_384delAGCCGCGACCTCCTGCGGAGCCTCTAC	c.(358-384)agccgcgacctcctgcggagcctctacdel	p.SRDLLRSLY120del	CHST1_uc001mys.2_In_Frame_Del_p.SRDLLRSLY120del	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	120					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.R121C(2)|p.Y128Y(2)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGTCGCAGTCGTAGAGGCTCCGCAGGAGGTCGCGGCTGGCGCCTAGC	0.661													---	85	---	---	9	---					
PRPF39	55015	broad.mit.edu	37	14	45579967	45579967	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:45579967delA	uc001wvz.4	+	9	1689	c.1519delA	c.(1519-1521)aaafs	p.K507fs	PRPF39_uc001wvy.4_Frame_Shift_Del_p.K386fs|PRPF39_uc010and.3_Frame_Shift_Del_p.K297fs|PRPF39_uc001wwa.1_Frame_Shift_Del_p.K111fs|SNORD127_uc010ane.3_5'Flank	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	Homo sapiens PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) (PRPF39), mRNA.	507					RNA splicing|mRNA processing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						CAAAATACAGAAAAACCTTCC	0.333													---	4	---	---	2	---					
NLGN2	57555	broad.mit.edu	37	17	7320248	7320248	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:7320248delC	uc002ggt.1	+	6	1711	c.1638delC	c.(1636-1638)gacfs	p.D546fs		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	546					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CCCACAGGGACCCCAACCAGC	0.592													---	4	---	---	2	---