Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FLG2	388698	broad.mit.edu	37	1	152328737	152328737	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:152328737C>A	uc001ezw.4	-	2	1598	c.1525G>T	c.(1525-1527)Ggg>Tgg	p.G509W	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	509	Ser-rich.						calcium ion binding|structural molecule activity	p.G509R(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGACAGACCCATGCTGTCCA	0.522000													8	311					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30572403	30572403	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:30572403G>T	uc003nqn.1	-	11	1616	c.1064C>A	c.(1063-1065)cCg>cAg	p.P355Q	PPP1R10_uc010jsc.1_Missense_Mutation_p.P9Q	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	355					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						AGGGGGAACCGGGGTGCCTGG	0.537000													9	347					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095279	81095279	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:81095279C>A	uc002fgc.4	-	3	934	c.675G>T	c.(673-675)ctG>ctT	p.L225L	C16orf46_uc010chf.3_Silent_p.L225L|C16orf46_uc010vno.2_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	225										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCTTCTTACCCAGAACATCCA	0.522000													7	152					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184910074	184910074	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:184910074C>A	uc003fpf.3	-	6	2188	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H	EHHADH_uc011brs.2_Missense_Mutation_p.Q608H	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	704						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.Q704H(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GAGGGTTTCCCTGAGAAGCCA	0.463000													6	101					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40789094	40789094	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:40789094C>A	uc022acd.1	+	13	1274	c.1250C>A	c.(1249-1251)cCa>cAa	p.P417Q	C7orf10_uc003thn.2_Missense_Mutation_p.P391Q|C7orf10_uc003tho.2_Missense_Mutation_p.P343Q	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	391							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ATTTCCGTCCCAGGTCTGAAA	0.388000													8	153					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534231	16534231	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:16534231C>A	uc001ayc.1	-	3	873	c.736G>T	c.(736-738)Ggg>Tgg	p.G246W	ARHGEF19_uc009voo.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	246					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCGGTCCCCGCTCATCTCT	0.667000													4	76					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19063038	19063038	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:19063038C>A	uc002dfp.2	+	12	1901	c.1771C>A	c.(1771-1773)Ccc>Acc	p.P591T	TMC7_uc002dfq.3_Missense_Mutation_p.P591T|TMC7_uc010vap.2_Missense_Mutation_p.P481T	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	591						integral to membrane		p.P591R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CAGACCCTCCCCCAGGCCGTT	0.413000													7	142					0	0	1	0	0
SOWAHC	65124	broad.mit.edu	37	2	110373562	110373562	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:110373562G>T	uc002tfb.3	+	0	1652	c.1496G>T	c.(1495-1497)gGg>gTg	p.G499V	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.3_5'Flank|SEPT10_uc002tex.3_5'Flank|SEPT10_uc002tey.3_5'Flank|SEPT10_uc010ywv.2_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member C (SOWAHC), mRNA.	499																	GAGGGCAGGGGGGAGGAGGGA	0.517000													5	61					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7696466	7696466	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:7696466C>A	uc002giu.1	+	46	7526	c.7512C>A	c.(7510-7512)ctC>ctA	p.L2504L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2504	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2503H(1)|p.R2503S(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATCCGCCTCTGGATTGACT	0.517000													5	88					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	476423	476423	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:476423C>A	uc002wdw.1	-	7	843	c.450G>T	c.(448-450)atG>atT	p.M150I	CSNK2A1_uc002wdx.1_Missense_Mutation_p.M150I|CSNK2A1_uc002wdy.1_Missense_Mutation_p.M14I	NM_177559	NP_808228	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	150	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	p.M150I(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GCATAATTCCCATGCTGTGAC	0.408000													7	87					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17151726	17151726	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:17151726C>A	uc001ioo.3	-	9	1076	c.1024G>T	c.(1024-1026)Ggt>Tgt	p.G342C		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	342	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCCGTCACCCTGGTACCCT	0.478000													5	91					0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67434956	67434956	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:67434956C>A	uc010vjm.2	-	3	636	c.332G>T	c.(331-333)cGg>cTg	p.R111L		NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	111						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GCTCTTGTCCCGCACGTTGGC	0.587000													4	78					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510163	77510163	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:77510163G>T	uc001dhi.3	+	2	711	c.536G>T	c.(535-537)cGg>cTg	p.R179L	ST6GALNAC5_uc010ori.2_Intron|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	179					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TACATGCGGCGGGACGGCAAG	0.602000													5	114					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150939844	150939844	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:150939844C>A	uc003wjs.3	-	3	520	c.419G>T	c.(418-420)cGg>cTg	p.R140L	SMARCD3_uc003wjt.3_Missense_Mutation_p.R127L|SMARCD3_uc003wju.3_Missense_Mutation_p.R127L|SMARCD3_uc011kvh.1_Missense_Mutation_p.R140L|SMARCD3_uc010lqa.1_Missense_Mutation_p.R140L	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.	140				R -> G (in Ref. 1; AAC50697).	cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATGTCCACCCGCTTCCGCAT	0.572000													9	237					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7002327	7002327	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:7002327C>A	uc002knm.3	-	29	4412	c.4318G>T	c.(4318-4320)Ggg>Tgg	p.G1440W	LAMA1_uc010wzj.2_Missense_Mutation_p.G916W	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1440	Laminin EGF-like 15.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCACCTTCCCGTAGTAGCCA	0.552000													6	118					0	0	1	0	0
GAPDHS	26330	broad.mit.edu	37	19	36027833	36027833	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:36027833C>A	uc002oaf.1	+	1	302	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_014364	NP_055179	O14556	G3PT_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA.	62					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CTCCTCACCCCGCTACTCCTC	0.592000													5	99					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90024597	90024597	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:90024597C>A	uc003kju.3	+	48	10369	c.10273C>A	c.(10273-10275)Cag>Aag	p.Q3425K	GPR98_uc003kjt.3_Missense_Mutation_p.Q1131K|GPR98_uc003kjv.3_Missense_Mutation_p.Q1025K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3425					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCCATTTCCCAGGCTAATGC	0.498000													5	116					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7606345	7606345	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:7606345G>T	uc010vuh.2	+	9	1458	c.1303G>T	c.(1303-1305)Ggg>Tgg	p.G435W	WRAP53_uc010vui.2_Missense_Mutation_p.G435W|WRAP53_uc002gip.3_Missense_Mutation_p.G435W|WRAP53_uc002gir.3_Missense_Mutation_p.G435W|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Missense_Mutation_p.G402W|EFNB3_uc002gis.3_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	435					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CAGCACGAGCGGGGCTGTCTC	0.632000													4	53					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68156891	68156891	+	Silent	SNP	C	C	A	rs142644036	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:68156891C>A	uc002evo.2	+	1	1421	c.1105C>A	c.(1105-1107)Cgg>Agg	p.R369R	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Silent_p.R369R|NFATC3_uc002evm.2_Silent_p.R369R|NFATC3_uc002evn.2_Silent_p.R369R|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	369					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ATCACCAGCCCGGGAGACTTC	0.433000													6	160					0	0	1	0	0
RAC2	5880	broad.mit.edu	37	22	37627360	37627360	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:37627360C>A	uc003arc.3	-	4	476	c.359G>T	c.(358-360)cGg>cTg	p.R120L		NM_002872	NP_002863	P15153	RAC2_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2), mRNA.	120					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTTGTCGTCCCGCAGGTCCAG	0.622000													4	62					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77614158	77614158	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:77614158T>A	uc011bgk.2	+	12	2391	c.1748T>A	c.(1747-1749)cTc>cAc	p.L583H	ROBO2_uc021xat.1_Missense_Mutation_p.L595H|ROBO2_uc003dpy.4_Missense_Mutation_p.L579H|ROBO2_uc003dpz.3_Missense_Mutation_p.L583H|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.	579	Fibronectin type-III 1.				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)		AAGACCACCCTCTATACTGTA	0.463000													33	44					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130224559	130224559	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:130224559C>A	uc004brb.2	+	8	807	c.435C>A	c.(433-435)acC>acA	p.T145T	LRSAM1_uc010mxk.2_Silent_p.T145T|LRSAM1_uc004brc.2_Silent_p.T145T|LRSAM1_uc004brd.2_Silent_p.T145T	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.	145					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	p.T145T(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TTCCAGACACCGTGGGGGAGC	0.567000													4	61					0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156514274	156514274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:156514274C>A	uc003lwk.2	-	6	999	c.745G>T	c.(745-747)Gga>Tga	p.G249*		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	249						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTGCCAATCCTGAGGGAGGG	0.433000													5	74					0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34220596	34220596	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:34220596C>A	uc010zvj.2	-	2	534	c.167G>T	c.(166-168)cGg>cTg	p.R56L	CPNE1_uc002xde.3_Missense_Mutation_p.R51L|CPNE1_uc002xdf.3_Missense_Mutation_p.R51L|CPNE1_uc002xdi.3_Missense_Mutation_p.R51L|CPNE1_uc002xdj.3_Missense_Mutation_p.R51L|CPNE1_uc002xdl.3_Missense_Mutation_p.R51L|CPNE1_uc002xdm.3_Missense_Mutation_p.R51L|CPNE1_uc010gfk.2_Missense_Mutation_p.R51L|CPNE1_uc002xdn.1_Non-coding_Transcript|CPNE1_uc002xdo.1_Non-coding_Transcript|CPNE1_uc002xdp.1_Non-coding_Transcript	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	51	C2 1.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TGAGCAGTTCCGCACCCGTTC	0.527000													5	98					0	0	1	0	0
DAZAP2	9802	broad.mit.edu	37	12	51636194	51636194	+	Missense_Mutation	SNP	G	G	T	rs11555475	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:51636194G>T	uc010snd.2	+	3	566	c.382G>T	c.(382-384)Ggg>Tgg	p.G128W	DAZAP2_uc021qxy.1_Missense_Mutation_p.K131N|DAZAP2_uc010snc.2_Missense_Mutation_p.K71N|DAZAP2_uc001ryb.3_Missense_Mutation_p.K153N|DAZAP2_uc010sne.2_Missense_Mutation_p.K121N|DAZAP2_uc010snf.1_Intron	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	Homo sapiens DAZ associated protein 2 (DAZAP2), transcript variant 3, mRNA.	24	Pro-rich.						WW domain binding			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CTCAGCGGAAGGGGAACTTCT	0.542000													9	257					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897261	36897261	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:36897261G>T	uc003cgj.3	-	11	4068	c.3820C>A	c.(3820-3822)Cgg>Agg	p.R1274R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1274					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						ACGTACACCCGGGGGTCACTG	0.483000													6	204					0	0	1	0	0
LRRC42	115353	broad.mit.edu	37	1	54423866	54423866	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:54423866G>T	uc001cwj.1	+	2	718	c.518G>T	c.(517-519)cGg>cTg	p.R173L	LRRC42_uc001cwk.1_Missense_Mutation_p.R173L	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	Homo sapiens leucine rich repeat containing 42 (LRRC42), transcript variant 2, mRNA.	173										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						AAGTCTTTCCGGGAGCTGACC	0.473000													6	55					0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81733633	81733633	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:81733633G>T	uc003yby.2	-	1	429	c.197C>A	c.(196-198)tCc>tAc	p.S66Y		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	66						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)			ATCAATGTTGGAGGAAACAAC	0.448000													9	270					0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10505732	10505732	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:10505732G>T	uc002mof.1	-	4	807	c.691C>A	c.(691-693)Cgg>Agg	p.R231R		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	231					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	p.R231R(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AAGCAGGCCCGGGGGTCCACC	0.582000													5	91					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133219467	133219467	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:133219467C>A	uc001uks.1	-	35	4711	c.4667G>T	c.(4666-4668)cGg>cTg	p.R1556L	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.R360L|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1556					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding	p.R1556L(3)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGTTTCTGCCCGAACTTCGAA	0.602000								DNA polymerases (catalytic subunits)					6	93					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16407836	16407836	+	Missense_Mutation	SNP	C	C	A	rs149918620	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:16407836C>A	uc002wpg.2	-	14	1684	c.1525G>T	c.(1525-1527)Ggg>Tgg	p.G509W	KIF16B_uc010gch.2_Missense_Mutation_p.G509W|KIF16B_uc010gci.2_Missense_Mutation_p.G509W|KIF16B_uc010gcj.2_Missense_Mutation_p.G509W	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	509	FHA.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACTGTCCCCCCGATATTTTCA	0.443000													5	93					0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126079438	126079438	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:126079438G>T	uc001qde.3	-	2	589	c.535C>A	c.(535-537)Cgt>Agt	p.R179S	FAM118B_uc001qdf.3_5'Flank|FAM118B_uc009zca.3_5'Flank|RPUSD4_uc010sbl.2_5'Flank|RPUSD4_uc009zbz.3_Missense_Mutation_p.R179S	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 4 (RPUSD4), transcript variant 1, mRNA.	179					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		ACCACCTGACGGGTTCTAAAC	0.468000													6	193					0	0	1	0	0
REXO1L1	254958	broad.mit.edu	37	8	86567335	86567335	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:86567335G>T	uc003ydl.1	-	0	571	c.484C>A	c.(484-486)Cgc>Agc	p.R162S		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	519						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						ACGGTGACGCGGGTCAGCTCC	0.567000													10	284					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079589	34079589	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:34079589C>A	uc002hjv.2	-	0	309	c.281G>T	c.(280-282)cGg>cTg	p.R94L		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	94	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GACCCCGACCCGGGGCATGGG	0.627000													5	90					0	0	1	0	0
PSMC4	5704	broad.mit.edu	37	19	40486577	40486577	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:40486577C>A	uc002omq.3	+	9	1133	c.1096C>A	c.(1096-1098)Cgg>Agg	p.R366R	PSMC4_uc002omr.3_Silent_p.R335R	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	366					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGATGTGGCCCGGCCAGATAA	0.527000													7	151					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	347178	347178	+	Silent	SNP	C	C	A	rs147038066		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:347178C>A	uc002cgp.2	-	6	2222	c.1833G>T	c.(1831-1833)tcG>tcT	p.S611S	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Silent_p.S611S	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	611	Interaction with PPP2CA.|Interaction with RNF111.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.E610*(1)|p.S611P(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGCTCTTCCCCGACTCAGCCT	0.607000													7	269					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588180	118588180	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:118588180C>A	uc003pxx.4	+	3	701	c.500C>A	c.(499-501)cCa>cAa	p.P167Q		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	167					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTTGTGATCCCAGTCGTGATT	0.483000													9	354					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58422902	58422902	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:58422902C>A	uc002iyo.1	-	1	412	c.126G>T	c.(124-126)atG>atT	p.M42I	USP32_uc010wov.1_Missense_Mutation_p.M42I	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	42					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGTGCTGGCCCATGTAATATG	0.438000													5	78					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128046370	128046370	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:128046370C>A	uc002toh.1	-	6	988	c.893G>T	c.(892-894)cGg>cTg	p.R298L	ERCC3_uc002toe.1_Missense_Mutation_p.R53L|ERCC3_uc002tof.1_Missense_Mutation_p.R234L|ERCC3_uc002tog.1_Missense_Mutation_p.R234L|ERCC3_uc010flx.1_Missense_Mutation_p.R53L	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	298					DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AGAATCATTCCGGAAGTCATA	0.468000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	307					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408975	105408975	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:105408975C>A	uc010axc.1	-	6	12933	c.12813G>T	c.(12811-12813)ccG>ccT	p.P4271P	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.P4171P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4271						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTTGGCTCCCGGGGCCTCGA	0.607000													7	287					0	0	1	0	0
HOXC11	3227	broad.mit.edu	37	12	54367427	54367427	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:54367427C>A	uc001sem.3	+	0	518	c.402C>A	c.(400-402)ccC>ccA	p.P134P		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	134					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P134P(1)		large_intestine(1)|ovary(1)	2						ACGCAACCCCCGCCGGCTTCT	0.657000			T	NUP98	AML								8	223					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382841	152382841	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:152382841G>T	uc001ezx.2	-	2	791	c.717C>A	c.(715-717)acC>acA	p.T239T		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	239	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGTCTGGGTGGCACCTG	0.597000													9	321					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49685941	49685941	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:49685941C>A	uc002pmw.3	+	10	1478	c.1370C>A	c.(1369-1371)cCg>cAg	p.P457Q	TRPM4_uc010emu.3_Missense_Mutation_p.P457Q|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.P283Q|TRPM4_uc010emv.3_Missense_Mutation_p.P342Q|TRPM4_uc010yal.2_Missense_Mutation_p.P103Q|TRPM4_uc002pmy.3_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	457					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TTCCTGACCCCGATGCGCCTG	0.647000													5	69					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71946931	71946931	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:71946931C>A	uc001osf.3	+	24	2927	c.2780C>A	c.(2779-2781)cCg>cAg	p.P927Q	INPPL1_uc001osg.3_Missense_Mutation_p.P685Q	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	927					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCCTCCTGCCCGCTCTCCAGG	0.657000													5	88					0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129664155	129664155	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:129664155C>A	uc003vpi.3	-	6	995	c.968G>T	c.(967-969)cGg>cTg	p.R323L	ZC3HC1_uc010lma.3_Missense_Mutation_p.R210L	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	323					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CATCATCCTCCGAGGAGATTC	0.547000													4	91					0	0	1	0	0
RNASE2	6036	broad.mit.edu	37	14	21424072	21424072	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:21424072C>A	uc021ros.1	+	0	142	c.142C>A	c.(142-144)Cag>Aag	p.Q48K	RNASE2_uc010aif.2_Missense_Mutation_p.Q48K|RNASE2_uc001vyl.1_Missense_Mutation_p.Q48K	NM_002934	NP_002925	P10153	RNAS2_HUMAN	Homo sapiens ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) (RNASE2), mRNA.	48					RNA catabolic process|chemotaxis	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TATGACCTCCCAGCAATGCAC	0.443000													6	65					0	0	1	0	0
CGB1	114335	broad.mit.edu	37	19	49538876	49538876	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:49538876C>A	uc002plx.3	-	2	682	c.459G>T	c.(457-459)ccG>ccT	p.P153P	SNAR-G1_uc010emp.1_5'Flank	NM_033377	NP_203695	A6NKQ9	CGB1_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 1 (CGB1), mRNA.	185						extracellular region	hormone activity			liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CCTAGGGCCCCGGGAGACGGG	0.612000													7	140					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98569472	98569472	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:98569472C>A	uc003upp.3	+	51	7931	c.7722C>A	c.(7720-7722)ccC>ccA	p.P2574P	TRRAP_uc011kis.2_Silent_p.P2556P|TRRAP_uc003upr.3_Silent_p.P2273P	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2574					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.P2574P(1)|p.P2556P(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGCACGCCCAAAACCAAAG	0.463000													9	287					0	0	1	0	0
ZNF705B	100132396	broad.mit.edu	37	8	7806777	7806777	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:7806777G>T	uc010lro.1	+	4	421	c.139_splice	c.e4+1	p.G47_splice		NM_001193630	NP_001180559	P0CI00	Z705L_HUMAN	Homo sapiens zinc finger protein 705D-like (LOC100132396), mRNA.	47	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(2)|lung(2)	4						GGTGTCCCTCGGTGAGTCCCT	0.433000													7	204					0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78417157	78417157	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:78417157C>A	uc003kfu.4	+	4	699	c.594C>A	c.(592-594)ccC>ccA	p.P198P	BHMT_uc011cti.2_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	198	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GCGTGCCCCCCGGCGAGTGTG	0.488000													4	73					0	0	1	0	0
DCAF8	50717	broad.mit.edu	37	1	160254884	160254884	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:160254884C>A	uc001fvs.2	-	0	58	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	DCAF8_uc010pjc.1_5'UTR|DCAF8_uc021pbq.1_Missense_Mutation_p.G11W|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_5'UTR	NM_002857	NP_002848	Q5TAQ9	DCAF8_HUMAN	Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript variant 1, mRNA.	0						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GCTTCGGCCCCGACACTACAG	0.632000													5	112					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26683749	26683749	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:26683749G>T	uc002rhk.3	-	43	5810	c.5683C>A	c.(5683-5685)Cgc>Agc	p.R1895S	OTOF_uc010yla.2_Missense_Mutation_p.R625S|OTOF_uc002rhh.3_Missense_Mutation_p.R1128S|OTOF_uc002rhi.3_Missense_Mutation_p.R1205S|OTOF_uc002rhj.3_Missense_Mutation_p.R1128S	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1895					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.R1895C(2)|p.R1128C(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCATTGCGGGCCAGGAGG	0.647000													4	71					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	667678	667678	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:667678C>A	uc001qii.1	+	17	2612	c.2612C>A	c.(2611-2613)cCg>cAg	p.P871Q	B4GALNT3_uc001qik.1_Missense_Mutation_p.P420Q	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	871						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCCAGGACCCGCACAGCATC	0.587000													5	194					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18219210	18219210	+	Missense_Mutation	SNP	C	C	A	rs147939354	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:18219210C>A	uc002gsy.4	+	0	617	c.107C>A	c.(106-108)cCc>cAc	p.P36H		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	36								p.F35Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCGCTCTTCCCCTTCGCCAGT	0.567000													6	79					0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28840863	28840863	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:28840863G>T	uc001urz.3	+	9	1575	c.1423G>T	c.(1423-1425)Gag>Tag	p.E475*	PAN3_uc010tdo.1_Nonsense_Mutation_p.E475*|PAN3_uc001ury.3_Nonsense_Mutation_p.E163*|PAN3_uc001urx.3_Nonsense_Mutation_p.E275*	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	475	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGTTCCTACAGAGGTTGACAG	0.358000													8	224					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24566850	24566850	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:24566850C>A	uc011djo.2	-	13	2767	c.2267G>T	c.(2266-2268)cGg>cTg	p.R756L	KIAA0319_uc011djp.2_Missense_Mutation_p.R711L|KIAA0319_uc003neh.1_Missense_Mutation_p.R756L|KIAA0319_uc011djq.1_Missense_Mutation_p.R747L|KIAA0319_uc011djr.1_Missense_Mutation_p.R756L|KIAA0319_uc010jpt.1_Missense_Mutation_p.R167L	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	756	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.I755I(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGGCCATCCCGGATCCACAG	0.463000													5	114					0	0	1	0	0
EAPP	55837	broad.mit.edu	37	14	34985607	34985607	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:34985607G>T	uc001wsd.1	-	5	876	c.767C>A	c.(766-768)cCa>cAa	p.P256Q		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.	256					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		GCACATGACTGGGTGATAGAT	0.453000													7	226					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73028174	73028174	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:73028174C>A	uc002avd.3	+	13	1477	c.1139C>A	c.(1138-1140)cCt>cAt	p.P380H	BBS4_uc010ukv.2_Missense_Mutation_p.P360H|BBS4_uc002avb.3_Missense_Mutation_p.P372H|BBS4_uc002avc.3_Missense_Mutation_p.P200H	NM_001252678	NP_001239607	Q96RK4	BBS4_HUMAN	Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 2, mRNA.	372	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						AGGTGTAACCCTTTAGTAAAC	0.463000									Bardet-Biedl syndrome				7	232					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57017243	57017243	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:57017243G>T	uc002eki.2	+	14	1384	c.1327G>T	c.(1327-1329)Gag>Tag	p.E443*	CETP_uc002ekj.2_Nonsense_Mutation_p.E383*	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	443					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CCCAGGGCTCGAGGTAGTGTT	0.597000													4	66					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043698	74043698	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:74043698C>A	uc002sjr.1	+	2	2469	c.2348C>A	c.(2347-2349)cCa>cAa	p.P783Q		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	783										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCTGCCACAccagctcagcca	0.522000													4	26					0	0	1	0	0
HMBS	3145	broad.mit.edu	37	11	118960702	118960702	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:118960702G>T	uc001puz.1	+	6	504	c.347G>T	c.(346-348)cGg>cTg	p.R116L	HMBS_uc009zao.2_Missense_Mutation_p.R61L|HMBS_uc001pva.1_Missense_Mutation_p.R116L|HMBS_uc001pve.1_Missense_Mutation_p.R99L|HMBS_uc001pvf.1_Missense_Mutation_p.R99L	NM_000190	NP_001019553	P08397	HEM3_HUMAN	Homo sapiens hydroxymethylbilane synthase (HMBS), transcript variant 1, mRNA.	116			R -> Q (in AIP).|R -> W (in AIP; loss of activity).		peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		TCCCCCAGGCGGGAAAACCCT	0.493000													6	104					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570242	136570242	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:136570242G>T	uc002tuu.1	-	6	2003	c.1992C>A	c.(1990-1992)ccC>ccA	p.P664P		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	664	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGTGAACTCGGGGAGTTGAG	0.557000													5	125					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124330412	124330412	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:124330412C>A	uc001lgk.1	+	3	252	c.146C>A	c.(145-147)cCa>cAa	p.P49Q	DMBT1_uc001lgl.1_Missense_Mutation_p.P49Q|DMBT1_uc001lgm.1_Missense_Mutation_p.P49Q|DMBT1_uc021qaf.1_Missense_Mutation_p.P49Q|DMBT1_uc021qag.1_Missense_Mutation_p.P49Q|DMBT1_uc021qah.1_Missense_Mutation_p.P49Q|DMBT1_uc009xzz.1_Missense_Mutation_p.P49Q|DMBT1_uc010qtx.1_Missense_Mutation_p.P49Q|DMBT1_uc009yaa.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	49					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAGGTTCTCCATTTCCCTCG	0.552000													7	195					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16024510	16024510	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:16024510G>T	uc002gpo.3	-	15	1977	c.1708C>A	c.(1708-1710)Cgg>Agg	p.R570R	NCOR1_uc002gpn.3_Silent_p.R570R|NCOR1_uc002gpp.1_Silent_p.R461R|NCOR1_uc002gpr.3_Silent_p.R461R	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	570					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTCGCCCCCGGGGTGTGGCT	0.542000													7	203					0	0	1	0	0
NRIP2	83714	broad.mit.edu	37	12	2943848	2943848	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:2943848G>T	uc001qlc.3	-	0	374	c.302C>A	c.(301-303)cCg>cAg	p.P101Q	NRIP2_uc010sed.1_Missense_Mutation_p.P101Q|LOC100507424_uc021qtc.1_5'Flank	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	Homo sapiens nuclear receptor interacting protein 2 (NRIP2), mRNA.	101					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	p.P101P(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTGTCCAGCGGGAGCAGGTC	0.657000													5	128					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119345262	119345262	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:119345262C>A	uc003pyj.3	-	1	1224	c.876G>T	c.(874-876)caG>caT	p.Q292H	FAM184A_uc003pyk.4_Missense_Mutation_p.Q172H|FAM184A_uc003pyl.4_Missense_Mutation_p.Q172H	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	292										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTTCTTGTCCCTGAAATTCTT	0.383000													6	150					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74738083	74738083	+	Missense_Mutation	SNP	C	C	A	rs145443532	by1000genomes	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:74738083C>A	uc002jta.2	+	4	1266	c.293C>A	c.(292-294)cCg>cAg	p.P98Q	MFSD11_uc002jtd.4_Missense_Mutation_p.P98Q|MFSD11_uc002jtb.3_Missense_Mutation_p.P98Q|MFSD11_uc002jtc.3_Missense_Mutation_p.P98Q|MFSD11_uc002jte.3_Missense_Mutation_p.P98Q|MFSD11_uc010dhb.3_Missense_Mutation_p.P98Q|MFSD11_uc010dha.3_Missense_Mutation_p.P98Q	NM_001242534	NP_001229463	O43934	MFS11_HUMAN	Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transcript variant 3, mRNA.	98						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CAGCCTTTCCCGTGGTCCTTC	0.403000													8	261					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33777943	33777943	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:33777943G>T	uc003and.4	-	9	1672	c.1093C>A	c.(1093-1095)Cgc>Agc	p.R365S	LARGE_uc011amd.2_Missense_Mutation_p.R164S|LARGE_uc003ane.4_Missense_Mutation_p.R365S|LARGE_uc010gwp.3_Missense_Mutation_p.R365S|LARGE_uc011ame.2_Missense_Mutation_p.R297S|LARGE_uc011amf.2_Missense_Mutation_p.R365S|LARGE_uc010gwq.1_Non-coding_Transcript	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	365					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.T364T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TGCTCGGAGCGGGTGTGGTCT	0.552000													7	106					0	0	1	0	0
UNC119B	84747	broad.mit.edu	37	12	121154520	121154520	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:121154520C>A	uc001tyz.3	+	2	895	c.448C>A	c.(448-450)Cgc>Agc	p.R150S		NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN	Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA.	150										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCATTTCTCCGCCTCCGGAC	0.537000													6	198					0	0	1	0	0
C22orf31	25770	broad.mit.edu	37	22	29454943	29454943	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:29454943C>A	uc003aej.1	-	2	787	c.660G>T	c.(658-660)gtG>gtT	p.V220V		NM_015370	NP_056185	O95567	CV031_HUMAN	Homo sapiens chromosome 22 open reading frame 31 (C22orf31), mRNA.	220										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TTGGCTCCACCACAGCGTGGT	0.552000													6	112					0	0	1	0	0
GJD3	125111	broad.mit.edu	37	17	38520083	38520083	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:38520083G>T	uc010cxa.1	+	1	1232	c.895G>T	c.(895-897)Ggg>Tgg	p.G299W	RARA_uc021txb.1_Intron|GJD3_uc010cwz.3_5'UTR			Q8N144	CXD3_HUMAN	Homo sapiens cDNA FLJ43264 fis, clone HLUNG2017350, weakly similar to GAP JUNCTION ALPHA-3 PROTEIN.	277					cell communication|gap junction assembly	cell surface|connexon complex|integral to plasma membrane	protein binding						Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)			TGGGGACGCGGGGCGGGGAGT	0.697000													4	9					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32164199	32164199	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:32164199C>A	uc003obb.3	-	29	5340	c.5201_splice	c.e29-1	p.G1734_splice	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Intron|NOTCH4_uc003oba.3_Splice_Site_p.G394_splice|NOTCH4_uc011dpu.2_Splice_Site|NOTCH4_uc011dpv.2_Splice_Site|NOTCH4_uc011dpw.1_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1734					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCAGTTTTCCCTAGGGGACGA	0.657000													6	110					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185245344	185245344	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:185245344C>A	uc003fpm.3	-	3	666	c.556G>T	c.(556-558)Ggg>Tgg	p.G186W	LIPH_uc010hyh.3_Intron	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	186			Missing (in LAH2).		lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGAGGTTTCCCGTTGAATAAA	0.532000													4	82					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141665491	141665491	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:141665491C>A	uc002tvj.1	-	21	4447	c.3475G>T	c.(3475-3477)Ggg>Tgg	p.G1159W	LRP1B_uc010fnl.1_Missense_Mutation_p.G341W	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1159	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCTTTTTCCCATTGCAGAGT	0.443000										TSP Lung(27;0.18)			7	240					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21751918	21751918	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:21751918C>A	uc010iuc.2	-	11	2771	c.2313G>T	c.(2311-2313)tgG>tgT	p.W771C	CDH12_uc011cno.1_Missense_Mutation_p.W731C|CDH12_uc003jgk.2_Missense_Mutation_p.W771C|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	771					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGCGGGGTCCCCAGTCTGTCA	0.502000										HNSCC(59;0.17)			6	117					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111893853	111893853	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:111893853G>T	uc001tsj.3	-	22	3886	c.3724C>A	c.(3724-3726)Cac>Aac	p.H1242N	ATXN2_uc001tsh.3_Missense_Mutation_p.H977N|ATXN2_uc001tsi.3_Missense_Mutation_p.H935N|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Missense_Mutation_p.H243N	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	1242					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGGCCATGTGGGGTGGGTTG	0.512000													7	232					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8049973	8049973	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:8049973C>A	uc002gkd.3	-	14	2084	c.1846G>T	c.(1846-1848)Gag>Tag	p.E616*	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Nonsense_Mutation_p.E600*	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	616	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTTTCCTCTCGGCCTCCTCA	0.622000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					4	73					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115417139	115417139	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:115417139G>T	uc001efr.3	+	8	820	c.611G>T	c.(610-612)cGg>cTg	p.R204L	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.R204L|SYCP1_uc009wgw.3_Missense_Mutation_p.R204L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	204					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.R204L(2)|p.R204W(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATATGAACGGGAAGAAACC	0.264000													5	197					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77859228	77859228	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:77859228C>A	uc002ffg.1	+	2	546	c.449C>A	c.(448-450)cCg>cAg	p.P150Q		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	150							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TACAAGATCCCGGATGACATG	0.522000													6	81					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71135089	71135089	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:71135089G>T	uc003tvy.3	+	7	1399	c.1399G>T	c.(1399-1401)Ggg>Tgg	p.G467W	WBSCR17_uc003tvz.3_Missense_Mutation_p.G166W	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	467	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGTTGCTTACGGGGAGGTAAT	0.413000													8	282					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043625	35043625	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:35043625C>A	uc003zvw.3	+	1	1028	c.999C>A	c.(997-999)ccC>ccA	p.P333P	C9orf131_uc003zvu.3_Silent_p.P285P|C9orf131_uc003zvv.3_Silent_p.P260P|C9orf131_uc003zvx.3_Silent_p.P298P	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	333										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AAAAGATGCCCCAAGCTTTTG	0.542000													10	362					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1667464	1667464	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:1667464G>T	uc002qxa.3	-	11	1544	c.1480C>A	c.(1480-1482)Ctc>Atc	p.L494I	PXDN_uc002qxb.1_Missense_Mutation_p.L494I	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	494	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGTCGTGGAGGGCAACACCA	0.622000													6	117					0	0	1	0	0
PTBP2	58155	broad.mit.edu	37	1	97236285	97236285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:97236285G>T	uc001drq.3	+	4	556	c.310G>T	c.(310-312)Gag>Tag	p.E104*	PTBP2_uc001drn.2_Nonsense_Mutation_p.E104*|PTBP2_uc001dro.2_Nonsense_Mutation_p.E104*|PTBP2_uc010otz.1_Nonsense_Mutation_p.E115*|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Nonsense_Mutation_p.E52*|PTBP2_uc001drr.3_Nonsense_Mutation_p.E104*|PTBP2_uc001dru.3_Non-coding_Transcript|PTBP2_uc001drm.2_Nonsense_Mutation_p.E104*	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA.	104	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		ACTAGCAACCGAGGAAGCAGC	0.303000													4	92					0	0	1	0	0
COPS6	10980	broad.mit.edu	37	7	99689073	99689073	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:99689073G>T	uc003usu.3	+	8	804	c.773G>T	c.(772-774)cGg>cTg	p.R258L	DD413568_uc022aif.1_5'Flank	NM_006833	NP_006824	Q7L5N1	CSN6_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) (COPS6), mRNA.	258	Interaction with Vpr.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAGATCCTGCGGGAGGCCTAT	0.507000													6	137					0	0	1	0	0
HOXA10	3206	broad.mit.edu	37	7	27211549	27211549	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:27211549C>A	uc011jzm.2	-	1	1232	c.1202G>T	c.(1201-1203)cGg>cTg	p.R401L	HOXA9_uc022aar.1_Intron|MIR196B_uc022aas.1_5'Flank|HOXA10_uc003syw.4_Non-coding_Transcript	NM_018951	NP_061824	P31260	HXA10_HUMAN	Homo sapiens homeobox A10 (HOXA10), transcript variant 1, mRNA.	401					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TGTGAGCTCCCGGATCCGGTT	0.512000													4	101					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36594583	36594583	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:36594583C>A	uc002odd.2	+	29	3944	c.3853C>A	c.(3853-3855)Ctg>Atg	p.L1285M	WDR62_uc002odc.2_Missense_Mutation_p.L1280M	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	1280					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGAGCCTGCCCTGCGTTCCTG	0.662000													6	100					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5785367	5785367	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:5785367C>A	uc003gil.1	+	11	1836	c.1652C>A	c.(1651-1653)cCg>cAg	p.P551Q	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	551					muscle organ development	integral to membrane		p.P551Q(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGCCTCCCCCCGGAAGAGTGT	0.587000													4	116					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669545	53669545	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:53669545C>A	uc010eqm.1	-	3	298	c.198G>T	c.(196-198)atG>atT	p.M66I		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACGCTTCTCCCATATTGTTCT	0.398000													9	377					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5687153	5687153	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:5687153C>A	uc003gij.3	-	5	814	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W	EVC2_uc003gik.3_Missense_Mutation_p.G174W|EVC2_uc011bwb.2_5'UTR	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	254						integral to membrane		p.G254W(2)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCCCGTTCCCGAGGTCTCCA	0.572000													4	111					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45141999	45141999	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:45141999C>A	uc011kcd.2	-	6	1350	c.1301G>T	c.(1300-1302)cGg>cTg	p.R434L	TBRG4_uc003tmu.3_Missense_Mutation_p.R248L|TBRG4_uc003tmv.3_Missense_Mutation_p.R423L|TBRG4_uc003tmw.3_Missense_Mutation_p.R313L|TBRG4_uc003tmx.3_Missense_Mutation_p.R313L	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA.	423					G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CTCTGCTTCCCGTGCCTGCTG	0.607000													4	64					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133342926	133342926	+	Silent	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:133342926T>C	uc003eps.3	-	16	3030	c.2898A>G	c.(2896-2898)gtA>gtG	p.V966V	TOPBP1_uc003ept.1_5'UTR	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	966	BRCT 6.				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAACAATGTGTACTCCTCTTT	0.383000								Other conserved DNA damage response genes					21	43					0	0	1	0	0
TLCD1	116238	broad.mit.edu	37	17	27051565	27051565	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:27051565G>T	uc002hco.3	-	3	822	c.707C>A	c.(706-708)cCc>cAc	p.P236H	TLCD1_uc010waw.2_Missense_Mutation_p.P189H	NM_138463	NP_612472	Q96CP7	TLCD1_HUMAN	Homo sapiens TLC domain containing 1 (TLCD1), transcript variant 1, mRNA.	236						integral to membrane				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					TTGCTTCTTGGGGACATGCTC	0.527000													7	184					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42442042	42442042	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:42442042C>A	uc001zoz.3	-	10	1020	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	PLA2G4F_uc001zoy.3_5'Flank|PLA2G4F_uc001zpa.3_Missense_Mutation_p.G61W|PLA2G4F_uc010bcr.3_Missense_Mutation_p.G61W|PLA2G4F_uc010bcs.3_Missense_Mutation_p.G97W	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	310	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCTAGGTCCCCGGAGCTGCCT	0.632000													5	107					0	0	1	0	0
SEC61A2	55176	broad.mit.edu	37	10	12191690	12191690	+	Missense_Mutation	SNP	C	C	A	rs146484607		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:12191690C>A	uc001ile.2	+	4	464	c.317C>A	c.(316-318)cCg>cAg	p.P106Q	SEC61A2_uc010qbq.1_Missense_Mutation_p.P84Q|SEC61A2_uc001ilf.4_Non-coding_Transcript|SEC61A2_uc001ilh.4_Non-coding_Transcript|SEC61A2_uc001ilg.4_Missense_Mutation_p.P106Q	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Homo sapiens Sec61 alpha 2 subunit (S. cerevisiae) (SEC61A2), transcript variant 1, mRNA.	106						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGAGATACACCGAAAGATAGA	0.393000													4	79					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058002	79058002	+	Silent	SNP	C	C	A	rs143941580		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:79058002C>A	uc002bej.4	-	18	4462	c.4251G>T	c.(4249-4251)gcG>gcT	p.A1417A	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1417	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A1417A(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCAGTTTCCCGCTTGCCAGC	0.642000													5	85					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49940697	49940697	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:49940697C>A	uc003cxy.4	-	0	610	c.346G>T	c.(346-348)Ggt>Tgt	p.G116C	MST1R_uc011bdc.2_Missense_Mutation_p.G116C|MST1R_uc011bdd.2_Missense_Mutation_p.G116C|MST1R_uc011bde.1_Missense_Mutation_p.G116C|MST1R_uc011bdf.1_Missense_Mutation_p.G116C|MST1R_uc011bdg.2_Missense_Mutation_p.G116C	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	116	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCTGTGTCACCGGGAGGGCCG	0.672000													5	100					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36508789	36508789	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:36508789C>A	uc010eeq.2	-	8	1602	c.1288G>T	c.(1288-1290)Ggg>Tgg	p.G430W	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Missense_Mutation_p.G430W	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	430					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCACGATCCCCTGCTTCTGG	0.632000													6	106					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141267566	141267566	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:141267566G>T	uc002tvj.1	-	51	9301	c.8329C>A	c.(8329-8331)Cga>Aga	p.R2777R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2777	LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCCAATGTCGGGGCACGCAG	0.517000										TSP Lung(27;0.18)			6	173					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928433	137928433	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:137928433G>T	uc002tva.1	+	5	1555	c.1555G>T	c.(1555-1557)Ggg>Tgg	p.G519W	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G409W	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGCATCAGAAGGGATCTGTTT	0.537000													5	50					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116435003	116435003	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:116435003G>T	uc001tvw.3	-	14	2657	c.2602C>A	c.(2602-2604)Cca>Aca	p.P868T		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	868					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAAGATGGTGGAGTGGGAAAC	0.398000													6	91					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17374617	17374617	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:17374617C>A	uc011jxz.1	+	7	1628	c.1015C>A	c.(1015-1017)Cga>Aga	p.R339R		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	339	PAS 2.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GTCCCATATCCGAAGTAAGTT	0.368000													5	79					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141244172	141244172	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:141244172C>A	uc003llp.3	-	2	1841	c.1724G>T	c.(1723-1725)cGg>cTg	p.R575L	PCDH1_uc011dbf.2_Missense_Mutation_p.R553L|PCDH1_uc003llq.3_Missense_Mutation_p.R575L	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	575	Cadherin 5.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	p.R575W(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ATAGCTCTCCCGCTGTTCCCG	0.572000													4	50					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105176474	105176474	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:105176474C>A	uc001kwy.1	+	12	1832	c.1745C>A	c.(1744-1746)cCg>cAg	p.P582Q		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	582	S1 motif 6.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ATCCCTGACCCGGAGAGAGTT	0.493000											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	147					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67861609	67861609	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:67861609C>A	uc001ddu.3	+	15	3066	c.2426C>A	c.(2425-2427)cCc>cAc	p.P809H	IL12RB2_uc010oqi.2_3'UTR|IL12RB2_uc010oqj.2_3'UTR|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.P723H|IL12RB2_uc010oqm.2_3'UTR|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	809					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GATGACCTCCCCTCACATGAG	0.562000													9	266					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44570873	44570873	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:44570873C>A	uc002oyf.1	+	4	1145	c.892C>A	c.(892-894)Cgt>Agt	p.R298S	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	298				R -> C (in Ref. 1; AAF04105).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TGTGAGCTTCCGTCTTAGGTC	0.443000													5	103					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11531589	11531589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:11531589C>A	uc002mrs.3	-	12	1845	c.1702G>T	c.(1702-1704)Gag>Tag	p.E568*	CCDC151_uc002mrr.3_Nonsense_Mutation_p.E503*|CCDC151_uc010dxz.3_Nonsense_Mutation_p.E508*|RGL3_uc002mrn.2_5'Flank|RGL3_uc002mrm.2_5'Flank|RGL3_uc002mro.2_5'Flank|RGL3_uc002mrp.2_5'Flank|RGL3_uc002mrq.2_5'Flank	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA.	568										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GTCACTACCTCGTTGTCCTCC	0.577000													4	96					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30825445	30825445	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:30825445C>T	uc003tbt.3	+	3	577	c.500C>T	c.(499-501)aCg>aTg	p.T167M	FAM188B_uc010kwe.3_Missense_Mutation_p.T138M	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	167										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCATGCAGACGGTCCCGGGT	0.458000													60	97					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4719139	4719139	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:4719139G>T	uc002fzc.3	+	13	1491	c.1365G>T	c.(1363-1365)ctG>ctT	p.L455L	PLD2_uc010vsj.2_Silent_p.L312L|PLD2_uc002fzd.3_Silent_p.L455L	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	455	Catalytic.|PLD phosphodiesterase 1.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TAGCATTCCTGGGGGGACTGG	0.597000											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	89					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42353218	42353218	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:42353218C>A	uc010xwe.2	+	5	732	c.649C>A	c.(649-651)Ctc>Atc	p.L217I	DMRTC2_uc002orr.1_Missense_Mutation_p.L94I|DMRTC2_uc002ors.3_Missense_Mutation_p.L217I	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	217	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TGGCACCTCCCTCCAGCTGCC	0.557000													7	163					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42107849	42107849	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:42107849G>T	uc001zok.4	+	12	1649	c.1363G>T	c.(1363-1365)Ggg>Tgg	p.G455W	MAPKBP1_uc010bci.3_Missense_Mutation_p.G449W|MAPKBP1_uc010udb.2_Missense_Mutation_p.G288W|MAPKBP1_uc001zoj.4_Missense_Mutation_p.G449W|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	455										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTATGTGGATGGGAACACCCA	0.557000													4	27					0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37975499	37975499	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:37975499G>T	uc010efl.1	+	5	1262	c.1143G>T	c.(1141-1143)acG>acT	p.T381T	ZNF570_uc002ogk.1_Silent_p.T325T|ZNF570_uc010xtr.1_Silent_p.T122T	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H380R(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGTTCACACGGGAGAGAAAC	0.438000													4	65					0	0	1	0	0
KLHDC1	122773	broad.mit.edu	37	14	50199529	50199529	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:50199529C>A	uc001www.3	+	8	908	c.818C>A	c.(817-819)cCa>cAa	p.P273Q	NEMF_uc010anj.1_Intron|KLHDC1_uc010tqg.2_Missense_Mutation_p.P228Q|KLHDC1_uc010tqh.2_Missense_Mutation_p.P188Q	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN	Homo sapiens kelch domain containing 1 (KLHDC1), mRNA.	273						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GATAATATCCCATTAAGTAAG	0.313000													4	40					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46750354	46750354	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:46750354C>A	uc001ndf.4	+	10	1482	c.1439C>A	c.(1438-1440)cCt>cAt	p.P480H		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	480	Peptidase S1.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TACATTCACCCTGTGTGTCTG	0.577000													6	109					0	0	1	0	0
FGF3	2248	broad.mit.edu	37	11	69631132	69631132	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:69631132C>A	uc001oph.3	-	1	771	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	94					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGGTACCGCCCGGAGAAGAGA	0.612000													6	119					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172683358	172683358	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:172683358G>T	uc002uhh.2	-	8	969	c.880C>A	c.(880-882)Cca>Aca	p.P294T	SLC25A12_uc010fqh.2_Missense_Mutation_p.P187T	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	294					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TCAGCCAATGGGGCTATTCTC	0.403000													6	116					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11367418	11367418	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:11367418C>A	uc002rbd.1	-	5	1279	c.830G>T	c.(829-831)tGg>tTg	p.W277L		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	277	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TACAGACCACCAATCACATTC	0.368000													7	203					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951361	46951361	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:46951361G>T	uc002zhl.2	-	2	1044	c.891C>A	c.(889-891)ccC>ccA	p.P297P	SLC19A1_uc010gpy.1_Silent_p.P297P|SLC19A1_uc011aft.2_Silent_p.P257P|SLC19A1_uc002zhm.2_Silent_p.P297P|SLC19A1_uc010gpz.2_Silent_p.P176P	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	297					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		TGTTGGTGGTGGGGTCCACCT	0.657000													5	95					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603812	138603812	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:138603812C>A	uc011kql.2	-	1	609	c.560G>T	c.(559-561)aGg>aTg	p.R187M	KIAA1549_uc011kqj.2_Missense_Mutation_p.R187M	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	187						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TAATGCTTCCCTGGGCAGCCC	0.498000			O	BRAF	pilocytic astrocytoma								7	151					0	0	1	0	0
GTPBP8	29083	broad.mit.edu	37	3	112710071	112710071	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:112710071G>T	uc003dzn.3	+	0	272	c.225G>T	c.(223-225)ccG>ccT	p.P75P	GTPBP8_uc003dzp.2_Non-coding_Transcript|GTPBP8_uc003dzo.3_Silent_p.P75P	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN	Homo sapiens GTP-binding protein 8 (putative) (GTPBP8), transcript variant 1, mRNA.	75					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						ACCCAAGCCCGGAGGACATAG	0.622000													5	61					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444880	179444880	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:179444880G>T	uc021vsy.1	-	266	59655	c.59430C>A	c.(59428-59430)ccC>ccA	p.P19810P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P13505P|TTN_uc021vta.1_Silent_p.P13438P|TTN_uc021vtb.1_Silent_p.P13313P|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20737	Fibronectin type-III 43.						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)			CATCAATAATGGGAGGCTCCC	0.433000													7	106					0	0	1	0	0
SPATA22	84690	broad.mit.edu	37	17	3352323	3352323	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:3352323C>A	uc002fvm.3	-	5	688	c.450G>T	c.(448-450)tcG>tcT	p.S150S	SPATA22_uc010vrg.2_Silent_p.S134S|SPATA22_uc010vrf.2_Silent_p.S150S|SPATA22_uc002fvo.3_Silent_p.S150S|SPATA22_uc002fvn.3_Silent_p.S150S|SPATA22_uc002fvp.3_Silent_p.S150S|SPATA22_uc010ckf.3_Silent_p.S107S	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	150								p.S150L(2)|p.S150S(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						GTTGAGCTCCCGAACTCACTG	0.348000													7	209					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158639501	158639501	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:158639501C>A	uc001fst.1	-	12	1874	c.1675G>T	c.(1675-1677)Ggg>Tgg	p.G559W		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	559					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.G559W(2)		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)					GGACATACCCCGTCACGGATA	0.433000													7	259					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765453	61765453	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:61765453C>A	uc003xue.3	+	30	6661	c.6169C>A	c.(6169-6171)Cgc>Agc	p.R2057S	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2057					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AACTCTGTACCGCATTGAGCT	0.562000													5	180					0	0	1	0	0
LCN12	286256	broad.mit.edu	37	9	139847376	139847376	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:139847376G>T	uc004ckc.3	+	1	155	c.147G>T	c.(145-147)gcG>gcT	p.A49A	LCN12_uc022bpx.1_Silent_p.A49A|LCN12_uc004ckb.3_Silent_p.A49A			Q6JVE5	LCN12_HUMAN	Homo sapiens lipocalin 12 (LCN12), mRNA.	49					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGGCCTGGCGGGCAACAGCT	0.647000													6	211					0	0	1	0	0
CSK	1445	broad.mit.edu	37	15	75094694	75094694	+	Missense_Mutation	SNP	G	G	T	rs34616395		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:75094694G>T	uc010bkb.1	+	13	1376	c.1193G>T	c.(1192-1194)cGg>cTg	p.R398L	CSK_uc002ays.2_Missense_Mutation_p.R398L|CSK_uc010bkc.1_Missense_Mutation_p.R207L	NM_001127190	NP_004374	P41240	CSK_HUMAN	Homo sapiens c-src tyrosine kinase (CSK), transcript variant 2, mRNA.	398	Protein kinase.		R -> Q (in dbSNP:rs34616395).		T cell costimulation|T cell receptor signaling pathway|blood coagulation|epidermal growth factor receptor signaling pathway	Golgi apparatus|centrosome|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GTCGTCCCTCGGGTGGAGAAG	0.662000													5	82					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744881	70744881	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:70744881C>A	uc003xyl.3	-	1	735	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	SLCO5A1_uc010lzb.3_Missense_Mutation_p.G10W|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.G10W|SLCO5A1_uc010lzc.2_Missense_Mutation_p.G10W	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	10						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTCCCGCCCCGGGCTGCAGT	0.617000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	98					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112620054	112620054	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:112620054T>C	uc002thi.3	-	9	1421	c.1174A>G	c.(1174-1176)Aat>Gat	p.N392D		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	392					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AAGGAGCCATTAGAATTACTA	0.378000													6	24					0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103528375	103528375	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:103528375G>T	uc011ceq.2	+	17	2487	c.2020G>T	c.(2020-2022)Ggg>Tgg	p.G674W	NFKB1_uc011cep.2_Missense_Mutation_p.G675W|NFKB1_uc011cer.2_Missense_Mutation_p.G494W	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	674	Interaction with CFLAR.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GGTGGCCGCTGGGGCTGACGT	0.572000													6	111					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27499963	27499963	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:27499963C>A	uc001itr.1	-	8	1071	c.351G>T	c.(349-351)ttG>ttT	p.L117F	ACBD5_uc010qdm.2_Missense_Mutation_p.L326F|ACBD5_uc010qdn.2_Missense_Mutation_p.L219F|ACBD5_uc010qdo.2_Missense_Mutation_p.L151F|ACBD5_uc010qdp.2_Missense_Mutation_p.L328F|ACBD5_uc001ito.3_Missense_Mutation_p.L293F|ACBD5_uc001itp.3_Missense_Mutation_p.L219F|ACBD5_uc001itq.3_Missense_Mutation_p.L219F			Q5T8D3	ACBD5_HUMAN	Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 3, non-coding RNA.	337	ACB.				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	p.L328F(1)|p.L293F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AATGACCACCCAAGTAATACT	0.388000													5	100					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38190089	38190089	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:38190089C>A	uc002ohc.2	-	4	1539	c.943G>T	c.(943-945)Ggg>Tgg	p.G315W	ZNF607_uc002ohb.2_Missense_Mutation_p.G314W	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AAGCCCTTCCCGCATTCCTTG	0.403000													6	158					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151356741	151356741	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:151356741C>A	uc010ipj.3	-	47	7318	c.7074_splice	c.e47+1	p.K2358_splice	LRBA_uc010ipi.3_Intron|LRBA_uc003ils.4_Splice_Site_p.K248_splice|LRBA_uc003ilt.4_Splice_Site_p.K1006_splice|LRBA_uc003ilu.4_Splice_Site_p.K2347_splice	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2358	BEACH.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTTCTGTACCTTAATATCAG	0.358000													7	139					0	0	1	0	0
IL23A	51561	broad.mit.edu	37	12	56733285	56733285	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:56733285C>A	uc001sla.3	+	1	404	c.238C>A	c.(238-240)Caa>Aaa	p.Q80K		NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN	Homo sapiens interleukin 23, alpha subunit p19 (IL23A), mRNA.	80					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CTGTGACCCCCAAGGACTCAG	0.507000													4	35					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372476	126372476	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:126372476C>A	uc003ifj.4	+	8	10305	c.10305C>A	c.(10303-10305)ccC>ccA	p.P3435P	FAT4_uc011cgp.2_Silent_p.P1733P|FAT4_uc003ifi.1_Silent_p.P913P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3435	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTCCATCCCCAGCTGGAGCA	0.453000													7	144					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74414719	74414719	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:74414719C>A	uc003dpm.1	-	7	1161	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	361	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TACCTTACCTCTAGCACCAGG	0.498000													8	316					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138559704	138559704	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:138559704G>T	uc003qhu.3	+	5	650	c.479G>T	c.(478-480)cGg>cTg	p.R160L		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	160					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.R89L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACTGCTGTGCGGGCAACTCTC	0.473000													7	128					0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183308	13183308	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:13183308G>T	uc010obg.2	-	1	808	c.565C>A	c.(565-567)Cag>Aag	p.Q189K		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	189						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TGTTTTATCTGGGTCAACTCC	0.433000													11	503					0	0	1	0	0
FOXR1	283150	broad.mit.edu	37	11	118851309	118851309	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:118851309G>T	uc001pui.3	+	4	946	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W	FOXR1_uc001puj.3_Non-coding_Transcript|FOXR1_uc001puk.3_Missense_Mutation_p.G72W	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	Homo sapiens forkhead box R1 (FOXR1), mRNA.	241					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CATGCAGGGCGGGGCCAGCAC	0.612000													5	131					0	0	1	0	0
FBL	2091	broad.mit.edu	37	19	40331116	40331116	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:40331116C>A	uc002omn.3	-	2	335	c.221G>T	c.(220-222)cGg>cTg	p.R74L	FBL_uc002omm.1_5'UTR|FBL_uc002omo.2_Missense_Mutation_p.R73L|FBL_uc010egr.3_Missense_Mutation_p.R74L	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	74	DMA/Gly-rich.				rRNA processing|tRNA processing	Cajal body|box C/D snoRNP complex	RNA binding|methyltransferase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTTTCCTCCCCGACCACGACC	0.592000													8	251					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14485246	14485246	+	Silent	SNP	G	G	T	rs150514528		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:14485246G>T	uc003jff.3	+	46	6732	c.6726G>T	c.(6724-6726)acG>acT	p.T2242T	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Silent_p.T1891T	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2242	PH 2.		T -> M (in dbSNP:rs55916212).		apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CATCGAGGACGGGTGACGTGG	0.393000													5	98					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35606140	35606140	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:35606140C>A	uc003xjr.2	+	11	2190	c.1862C>A	c.(1861-1863)cCg>cAg	p.P621Q	UNC5D_uc003xjs.2_Missense_Mutation_p.P616Q|UNC5D_uc003xju.2_Missense_Mutation_p.P197Q	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	621	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGACCATCCCGCACTGTGCA	0.493000													6	172					0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114325879	114325879	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:114325879C>T	uc010tkf.2	+	2	998	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	298	Protein kinase.		T -> M (in patients with autosomal recessive retinitis pigmentosa; unclear pathological significance).		regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	p.T298M(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CTCTTCTACACGGCGCAGATC	0.632000													13	43					0	0	1	0	0
TRIM29	23650	broad.mit.edu	37	11	120008334	120008334	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:120008334G>T	uc001pwz.3	-	0	530	c.406C>A	c.(406-408)Cgg>Agg	p.R136R	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	136					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTGGGCTTCCGGGACTCCGAG	0.657000													6	196					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183177030	183177030	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:183177030G>T	uc001gqa.2	+	1	408	c.94G>T	c.(94-96)Ggg>Tgg	p.G32W	LAMC2_uc001gpz.4_Missense_Mutation_p.G32W|LAMC2_uc010poa.2_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	32	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGATTGCAATGGGAAGTCCAG	0.423000													6	181					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30735154	30735154	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:30735154C>A	uc002dze.1	+	24	4794	c.4409C>A	c.(4408-4410)cCa>cAa	p.P1470Q	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1265Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1470	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTTCGGGCCCAGCTCTGTTG	0.612000													6	170					0	0	1	0	0
FAAH	2166	broad.mit.edu	37	1	46874198	46874198	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:46874198C>A	uc001cpu.2	+	7	1101	c.1019C>A	c.(1018-1020)cCg>cAg	p.P340Q	FAAH_uc001cpv.2_Non-coding_Transcript	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	340					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	ATGCCCTCCCCGGCCATGAGG	0.617000													8	298					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538370	4538370	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:4538370C>A	uc002mau.3	-	1	637	c.626G>T	c.(625-627)aGg>aTg	p.R209M	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	209						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCGGACCCCTCAGGAGGTC	0.587000													8	289					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481720	140481720	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:140481720C>A	uc003lio.3	+	0	1487	c.1487C>A	c.(1486-1488)cCg>cAg	p.P496Q	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	496	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCAGGACCCGCACCTGCCC	0.647000													6	174					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588369	204588369	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:204588369C>A	uc021phy.1	-	0	752	c.752G>T	c.(751-753)cGg>cTg	p.R251L	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.R251L|LRRN2_uc001hbf.1_Missense_Mutation_p.R251L|LRRN2_uc009xbf.1_Missense_Mutation_p.R251L|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	251					cell adhesion	integral to membrane	receptor activity	p.A250S(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCTGGGCACCCGGGCCAGCTG	0.632000													4	67					0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34312596	34312596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:34312596C>A	uc002xeb.3	-	7	992	c.583G>T	c.(583-585)Gga>Tga	p.G195*	RBM39_uc002xdz.3_Nonsense_Mutation_p.G171*|RBM39_uc010gfn.3_Nonsense_Mutation_p.G38*|RBM39_uc002xef.3_Nonsense_Mutation_p.G38*|RBM39_uc010zvn.2_Nonsense_Mutation_p.G38*|RBM39_uc002xec.3_Nonsense_Mutation_p.G195*|RBM39_uc010zvm.2_Nonsense_Mutation_p.G173*|RBM39_uc002xeg.3_Nonsense_Mutation_p.G173*|RBM39_uc002xed.3_5'UTR|RBM39_uc002xee.3_Nonsense_Mutation_p.G38*	NM_184234	NP_909122	Q14498	RBM39_HUMAN	Homo sapiens RNA binding motif protein 39 (RBM39), transcript variant 1, mRNA.	195	RRM 1.				RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nuclear speck	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TAAGCAATTCCTTTGGAACGT	0.418000													7	85					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14884858	14884858	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:14884858G>T	uc002mzp.1	-	3	547	c.91C>A	c.(91-93)Cgg>Agg	p.R31R	EMR2_uc010xnw.1_Silent_p.R31R|EMR2_uc002mzo.1_Silent_p.R31R|EMR2_uc002mzq.1_Silent_p.R31R|EMR2_uc002mzr.1_Silent_p.R31R|EMR2_uc002mzs.1_Silent_p.R31R|EMR2_uc002mzt.1_Silent_p.R31R|EMR2_uc002mzu.1_Silent_p.R31R|EMR2_uc010xnx.1_5'Flank|EMR2_uc010xny.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	31	EGF-like 1.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGGCACCACCGGGCACAGCCT	0.592000													6	168					0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19154035	19154035	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:19154035G>T	uc002kth.1	-	3	1704	c.770C>A	c.(769-771)cCg>cAg	p.P257Q	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	257					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.P257Q(2)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTCTTTTTCGGGACCACTGA	0.413000													7	327					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102480412	102480412	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:102480412C>A	uc002tbc.3	+	16	2374	c.1996C>A	c.(1996-1998)Cgc>Agc	p.R666S	MAP4K4_uc002tbf.3_Intron|MAP4K4_uc002tbd.3_Intron|MAP4K4_uc010yvy.2_Missense_Mutation_p.R581S|MAP4K4_uc002tbh.3_Intron|MAP4K4_uc002tbg.3_Intron|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Missense_Mutation_p.R561S|MAP4K4_uc002tbk.3_Intron|MAP4K4_uc021vlq.1_Intron|MAP4K4_uc002tbl.3_5'Flank	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	599					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCCACCTTCCCGCAGTGAGGT	0.542000													7	280					0	0	1	0	0
C6orf120	387263	broad.mit.edu	37	6	170102663	170102663	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:170102663C>A	uc011egx.2	+	1	191	c.165C>A	c.(163-165)ccC>ccA	p.P55P	WDR27_uc003qwx.3_5'Flank|WDR27_uc003qwy.3_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.3_5'Flank|C6orf120_uc003qxb.3_Silent_p.P36P	NM_001029863	NP_001025034	Q7Z4R8	CF120_HUMAN	Homo sapiens chromosome 6 open reading frame 120 (C6orf120), mRNA.	36						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		AGGAGGTCCCCGAGGAGTGGG	0.692000													4	34					0	0	1	0	0
ZNF70	7621	broad.mit.edu	37	22	24086250	24086250	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:24086250C>A	uc002zxs.3	-	1	1539	c.1078G>T	c.(1078-1080)Ggt>Tgt	p.G360C	ZNF70_uc021wmu.1_Missense_Mutation_p.G360C	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	Homo sapiens zinc finger protein 70 (ZNF70), mRNA.	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GGCTTCTCACCGGTGTGGATG	0.587000													5	69					0	0	1	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852533	31852533	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:31852533C>A	uc011acx.2	-	0	104	c.104G>T	c.(103-105)cGg>cTg	p.R35L		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	Homo sapiens keratin associated protein 19-1 (KRTAP19-1), mRNA.	35	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCCAGAACCCCGTCTGCAGAA	0.582000													8	305					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165832169	165832169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:165832169C>A	uc003qun.3	-	11	1167	c.922G>T	c.(922-924)Gag>Tag	p.E308*	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Nonsense_Mutation_p.E238*|PDE10A_uc003quo.3_Nonsense_Mutation_p.E318*	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	308	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TCCTTTTCCTCTCCAATATCA	0.418000													5	70					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4133922	4133922	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:4133922G>T	uc003mwf.3	-	1	111	c.74C>A	c.(73-75)cCg>cAg	p.P25Q	ECI2_uc021yku.1_5'UTR|ECI2_uc003mwc.3_5'UTR|ECI2_uc003mwd.3_5'UTR|ECI2_uc003mwe.3_5'UTR|ECI2_uc010jnr.1_Non-coding_Transcript|AK092451_uc003mwg.1_5'Flank	NM_206836	NP_996667	O75521	ECI2_HUMAN	Homo sapiens enoyl-CoA delta isomerase 2 (ECI2), transcript variant 2, mRNA.	25					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CTGAACTACCGGGAAACTAGT	0.423000													5	92					0	0	1	0	0
CTSL1	1514	broad.mit.edu	37	9	90343536	90343536	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:90343536G>T	uc004api.3	+	4	638	c.433G>T	c.(433-435)Ggt>Tgt	p.G145C	CTSL1_uc004aph.3_Missense_Mutation_p.G145C|CTSL1_uc010mqh.3_Intron|CTSL1_uc004apl.3_Missense_Mutation_p.G145C|CTSL1_uc004apk.3_Missense_Mutation_p.G145C	NM_145918	NP_666023	P07711	CATL1_HUMAN	Homo sapiens cathepsin L1 (CTSL1), transcript variant 2, mRNA.	145					macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)	19					Glucagon recombinant(DB00040)	TAGTGCTACTGGTGCTCTTGA	0.443000													6	189					0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64824836	64824836	+	Missense_Mutation	SNP	C	C	A	rs138940796		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:64824836C>A	uc003jts.3	-	7	592	c.380G>T	c.(379-381)cGg>cTg	p.R127L	CENPK_uc003jtu.3_Missense_Mutation_p.R127L	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	Homo sapiens centromere protein K (CENPK), mRNA.	127					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		p.R127L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		ATCCAACCACCGTTGTTCCCT	0.279000													5	99					0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156437	111156437	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:111156437C>A	uc001plc.3	+	3	516	c.369C>A	c.(367-369)gcC>gcA	p.A123A		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	123										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CTGTGTCTGCCGATGCCCTGC	0.622000													5	90					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:155887393T>G	uc001fmi.1	-	10	1361	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000													8	26					0	0	1	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827718	79827718	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:79827718G>T	uc021uff.1	-	1	395	c.89C>A	c.(88-90)cCg>cAg	p.P30Q	AK293147_uc021ufe.1_5'Flank|ARHGDIA_uc002kbq.3_Missense_Mutation_p.P30Q|ARHGDIA_uc021ufg.1_Missense_Mutation_p.P30Q|ARHGDIA_uc010dig.2_Non-coding_Transcript	NM_001185077	NP_004300	P52565	GDIR1_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA.	30					Rho protein signal transduction|anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction	cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity|identical protein binding			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTTCTGGGCCGGGGGCTTGTA	0.627000													4	54					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654515	46654515	+	Silent	SNP	G	G	T	rs146810625	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:46654515G>T	uc003bhh.3	-	0	4705	c.4705C>A	c.(4705-4707)Cgg>Agg	p.R1569R		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1569					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGGACGATCCGGGGCTTTTTC	0.408000													5	188					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145156365	145156365	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:145156365G>T	uc002tvu.3	-	7	2911	c.2389C>A	c.(2389-2391)Cac>Aac	p.H797N	ZEB2_uc010zbm.2_Missense_Mutation_p.H773N|ZEB2_uc002tvv.3_Missense_Mutation_p.H791N|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.H826N	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	797						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAACTACTGTGGGAGTTTTTA	0.393000													7	185					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794491	15794491	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:15794491C>A	uc002nbl.3	+	6	955	c.836C>A	c.(835-837)cCc>cAc	p.P279H		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CGCACCCTCCCCACTCAGGGT	0.532000													7	141					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23828951	23828951	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:23828951C>A	uc001wjo.3	-	3	1344	c.736G>T	c.(736-738)Ggg>Tgg	p.G246W	EFS_uc001wjp.3_Missense_Mutation_p.G153W|EFS_uc010tnm.2_Intron	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	246	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		TCAGTGCCCCCGCCCTCCCCG	0.637000													7	80					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50549573	50549573	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:50549573G>T	uc002prn.3	+	4	2110	c.1873G>T	c.(1873-1875)Ggg>Tgg	p.G625W	ZNF473_uc002prm.3_Missense_Mutation_p.G625W|ZNF473_uc010ybo.2_Missense_Mutation_p.G613W	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	625					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GGGTGAGCAAGGGAAAGCCAT	0.478000													5	69					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022928	131022928	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:131022928C>A	uc011maw.2	-	16	1506	c.1493G>T	c.(1492-1494)cGg>cTg	p.R498L	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_5'UTR|JA429730_uc022bod.1_5'Flank|Metazoa_SRP_uc022bof.1_5'Flank|DQ594309_uc004bun.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	498						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CTCCTGCTCCCGGTTCAGGCG	0.657000													5	153					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11732266	11732266	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:11732266G>T	uc003jfa.1	-	1	301	c.156C>A	c.(154-156)ctC>ctA	p.L52L	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	52					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.L52L(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGACTGAGGCGAGGATGGCAG	0.443000													5	116					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84695294	84695294	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:84695294G>T	uc002fig.3	+	4	1547	c.1406G>T	c.(1405-1407)cGg>cTg	p.R469L	KLHL36_uc010chl.3_Missense_Mutation_p.R405L|AK057887_uc002fih.3_5'Flank	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	469										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TACGACCACCGGACAGACGTG	0.637000													4	55					0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5632083	5632083	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:5632083G>T	uc001mbd.3	+	7	1325	c.1062G>T	c.(1060-1062)gtG>gtT	p.V354V	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Intron|TRIM6-TRIM34_uc009yeo.2_Silent_p.V300V|TRIM6-TRIM34_uc010qzj.2_Silent_p.V151V|TRIM6-TRIM34_uc001mbc.2_Silent_p.V326V|TRIM6-TRIM34_uc001mbe.3_Silent_p.V151V|TRIM6-TRIM34_uc010qzk.2_Silent_p.V151V|TRIM6-TRIM34_uc010qzl.2_Silent_p.V151V|TRIM6-TRIM34_uc009yep.1_3'UTR	NM_001003818	NP_001185574	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 6 (TRIM6), transcript variant 1, mRNA.	677						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TGAGGTTTGTGGGAGCTAAAG	0.468000													5	74					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30675940	30675940	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:30675940C>A	uc003nrg.4	-	7	2856	c.2416G>T	c.(2416-2418)Ggg>Tgg	p.G806W	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	806				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.G806W(1)		breast(2)|kidney(1)|ovary(1)	4						GTCTGCCTCCCTCTGCCTTGA	0.532000								Other conserved DNA damage response genes					8	222					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81660620	81660620	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:81660620G>T	uc021ssk.1	-	2	286	c.286C>A	c.(286-288)Cga>Aga	p.R96R	TMC3_uc021ssj.1_Silent_p.R96R|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Silent_p.R96R	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	96						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGGTAGCCTCGGGTCCTGGTC	0.498000													6	200					0	0	1	0	0
FABP1	2168	broad.mit.edu	37	2	88425708	88425708	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:88425708C>A	uc002sst.2	-	1	341	c.227G>T	c.(226-228)gGg>gTg	p.G76V		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	76					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GACTTTCTCCCCTGTCATTGT	0.522000													9	294					0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169823457	169823457	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:169823457G>T	uc001ggs.2	-	12	2321	c.2123C>A	c.(2122-2124)cCa>cAa	p.P708Q	SCYL3_uc010plw.1_Missense_Mutation_p.P300Q|SCYL3_uc001ggt.2_Missense_Mutation_p.P654Q	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	708	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGCATCACTGGGGAGACATC	0.403000													5	70					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	140001761	140001761	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:140001761C>A	uc004cld.2	+	10	1661	c.1626C>A	c.(1624-1626)ccC>ccA	p.P542P	MAN1B1_uc011mep.2_Silent_p.P542P|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_Silent_p.P215P	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	542					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ACGGCCTGCCCGCCAGCCACA	0.632000													6	107					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52526356	52526356	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:52526356C>A	uc003ded.4	+	20	4507	c.4373C>A	c.(4372-4374)cCg>cAg	p.P1458Q	NISCH_uc003dee.4_Missense_Mutation_p.P947Q|NISCH_uc003deg.1_Intron|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1458					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCAGGTGGCCCGGCTAGAGCC	0.627000													7	292					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281209	100281209	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:100281209C>A	uc003uwg.1	-	16	3025	c.2016G>T	c.(2014-2016)caG>caT	p.Q672H		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	672										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAATTGGACCCTGAGTCGAAG	0.607000													7	192					0	0	1	0	0
ALDH7A1	501	broad.mit.edu	37	5	125919688	125919688	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:125919688C>A	uc003ktx.3	-	3	521	c.329G>T	c.(328-330)cGa>cTa	p.R110L	ALDH7A1_uc011cxa.2_Missense_Mutation_p.R137L	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	110					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TATTTCTCCTCGTTTTGGAGC	0.353000													5	97					0	0	1	0	0
TUSC5	286753	broad.mit.edu	37	17	1198824	1198824	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:1198824C>A	uc002fsi.1	+	1	766	c.427C>A	c.(427-429)Cgg>Agg	p.R143R		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA.	143					response to biotic stimulus	integral to membrane		p.R143W(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGACGGCGCCCGGAGGCTGGG	0.622000													6	172					0	0	1	0	0
TRIM23	373	broad.mit.edu	37	5	64892970	64892970	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:64892970C>A	uc003jty.3	-	7	1303	c.1217G>T	c.(1216-1218)cGg>cTg	p.R406L	TRIM23_uc003jtw.3_Missense_Mutation_p.R406L|TRIM23_uc003jtx.3_Missense_Mutation_p.R406L	NM_001656	NP_001647	P36406	TRI23_HUMAN	Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.	406	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	GDP binding|GTP binding|GTPase activity|enzyme activator activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CGTAACGACCCGAATTTCCAT	0.338000													4	89					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153318593	153318593	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:153318593G>T	uc001fbo.3	-	2	189	c.124C>A	c.(124-126)Cag>Aag	p.Q42K	PGLYRP4_uc001fbp.3_Missense_Mutation_p.Q42K	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	42					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGTGAGCTGGGAGATGTTC	0.453000													8	283					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106959	168106959	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:168106959G>T	uc002udx.3	+	8	9146	c.9057G>T	c.(9055-9057)gcG>gcT	p.A3019A	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.A2844A|XIRP2_uc010fpq.3_Silent_p.A2797A|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2844					actin cytoskeleton organization	cell junction	actin binding	p.Q3018*(1)		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						AAACTCAAGCGGAAGATATGC	0.348000													5	103					0	0	1	0	0
SLC35G1	159371	broad.mit.edu	37	10	95658490	95658490	+	Missense_Mutation	SNP	C	C	A	rs78174634		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:95658490C>A	uc001kjg.2	+	1	402	c.341C>A	c.(340-342)cCt>cAt	p.P114H	SLC35G1_uc001kji.3_Intron|SLC35G1_uc001kjf.2_Missense_Mutation_p.P113H|SLC35G1_uc010qnw.2_Missense_Mutation_p.P97H|SLC35G1_uc001kjj.3_Intron	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN	Homo sapiens solute carrier family 35, member G1 (SLC35G1), transcript variant 1, mRNA.	114	DUF6 1.					integral to membrane											GTTGTTATCCCTTGCTTAATA	0.338000													5	69					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14983027	14983027	+	Silent	SNP	C	C	A	rs151182776		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:14983027C>A	uc002dcv.3	+	28	3465	c.3399C>A	c.(3397-3399)acC>acA	p.T1133T		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	1133						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTTCTTTCACCGCAGTGGGCT	0.453000													7	298					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172048460	172048460	+	Silent	SNP	C	C	A	rs143644974		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:172048460C>A	uc003fhy.3	+	12	1681	c.1509C>A	c.(1507-1509)ccC>ccA	p.P503P	FNDC3B_uc003fhz.4_Silent_p.P503P|FNDC3B_uc003fia.3_Silent_p.P434P	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	503	Fibronectin type-III 3.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GCTGTTCACCCGAGGAAGTGA	0.443000													4	56					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134394290	134394290	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:134394290C>A	uc004cav.3	+	14	1700	c.1498C>A	c.(1498-1500)Cgg>Agg	p.R500R	POMT1_uc004cax.3_Silent_p.R478R|POMT1_uc011mcj.2_Silent_p.R256R|POMT1_uc004cau.3_Silent_p.R478R|POMT1_uc004caw.3_Silent_p.R424R|POMT1_uc011mck.2_Silent_p.R361R|POMT1_uc011mcl.2_Silent_p.R326R|POMT1_uc011mcm.2_Silent_p.R448R	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	500	MIR 3.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GAAGCTGTCCCGGGGCTACCA	0.647000													4	60					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154218701	154218701	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:154218701G>T	uc001fep.4	+	10	1031	c.864G>T	c.(862-864)ctG>ctT	p.L288L	UBAP2L_uc009wot.3_Silent_p.L288L|UBAP2L_uc010pek.2_Silent_p.L280L|UBAP2L_uc010pel.2_Silent_p.L298L|UBAP2L_uc010pen.2_Silent_p.L202L	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	288					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGTTCTGCTGGGGAAGACAC	0.463000													6	124					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47165907	47165907	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:47165907C>A	uc002eer.2	-	1	477	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	NETO2_uc010vgf.2_Missense_Mutation_p.G22W	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	22						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				ACGGCAATCCCTTCCACTACC	0.338000										HNSCC(25;0.065)			8	288					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1806232	1806232	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:1806232C>A	uc003wpr.3	+	2	322	c.144C>A	c.(142-144)tcC>tcA	p.S48S	ARHGEF10_uc003wpq.1_Silent_p.S72S|ARHGEF10_uc003wps.3_Silent_p.S48S|ARHGEF10_uc003wpt.3_5'Flank|ARHGEF10_uc010lrd.2_5'Flank|ARHGEF10_uc003wpu.3_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	72					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding	p.S72S(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGGCCCCATCCGCCCCTGAGA	0.547000													4	75					0	0	1	0	0
HSD17B14	51171	broad.mit.edu	37	19	49339660	49339660	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:49339660C>A	uc002pkv.1	-	0	275	c.9G>T	c.(7-9)acG>acT	p.T3T	HSD17B14_uc010emk.1_Silent_p.T3T	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 14 (HSD17B14), mRNA.	3					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity	p.T3M(1)		large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		AGCGCGTTCCCGTAGCCATCC	0.647000											OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	68					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124171483	124171483	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:124171483G>T	uc001ufp.3	+	5	793	c.665G>T	c.(664-666)gGg>gTg	p.G222V	TCTN2_uc009zya.3_Missense_Mutation_p.G221V	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	222					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGCTCTGCTGGGACGACGACA	0.527000													9	277					0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2323643	2323643	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:2323643C>A	uc002fut.3	-	9	1458	c.1310G>T	c.(1309-1311)cGg>cTg	p.R437L	METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Intron|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_Missense_Mutation_p.R219L	NM_024086	NP_076991	Q86W50	MET16_HUMAN	Homo sapiens methyltransferase like 16 (METTL16), mRNA.	437							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CTCGCCTTCCCGCAGAGCAGG	0.647000													6	175					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67861699	67861699	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:67861699C>A	uc001ddu.3	+	15	3156	c.2516C>A	c.(2515-2517)cCa>cAa	p.P839Q	IL12RB2_uc010oqi.2_3'UTR|IL12RB2_uc010oqj.2_3'UTR|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.P753Q|IL12RB2_uc010oqm.2_3'UTR|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	839					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCTCTTCACCCACTCACCTTC	0.512000													10	431					0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95789954	95789954	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:95789954C>A	uc003ygx.2	+	13	1639	c.1515C>A	c.(1513-1515)ccC>ccA	p.P505P		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	505						integral to membrane		p.P505P(2)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TATGTTCTCCCGAACTTTGGA	0.373000													6	211					0	0	1	0	0
SHMT1	6470	broad.mit.edu	37	17	18256995	18256995	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:18256995G>T	uc002gta.3	-	2	423	c.233C>A	c.(232-234)cCg>cAg	p.P78Q	SHMT1_uc002gtb.3_Missense_Mutation_p.P78Q|SHMT1_uc010vxt.2_5'UTR|SHMT1_uc002gtd.1_Missense_Mutation_p.P78Q|SHMT1_uc010vxu.1_Missense_Mutation_p.P78Q	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78					L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCTCTGGCCCGGGTACCCCTC	0.478000													6	228					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67051215	67051215	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:67051215C>A	uc009yrn.1	+	15	1632	c.1366C>A	c.(1366-1368)Ctg>Atg	p.L456M		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	456	AGC-kinase C-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TTTCCGCTCCCTGGACTGGCA	0.617000													6	77					0	0	1	0	0
HN1L	90861	broad.mit.edu	37	16	1735506	1735506	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:1735506C>A	uc010uvi.2	+	2	231	c.195C>A	c.(193-195)tcC>tcA	p.S65S	CRAMP1L_uc002cmf.3_Non-coding_Transcript|HN1L_uc002cmg.3_Silent_p.S37S|HN1L_uc010brt.3_Intron|HN1L_uc010bru.3_Silent_p.S37S|HN1L_uc010uvj.2_Silent_p.S65S|HN1L_uc010uvk.2_Silent_p.S24S	NM_144570	NP_653171	Q9H910	HN1L_HUMAN	Homo sapiens hematological and neurological expressed 1-like (HN1L), mRNA.	37						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						CTACTCCTTCCAGCAGGCCTA	0.473000													5	96					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48717950	48717950	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:48717950C>A	uc001zwx.2	-	58	7711	c.7316G>T	c.(7315-7317)gGg>gTg	p.G2439V	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2439	EGF-like 41; 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)		ACAGGAAGTCCCAGTTATATC	0.363000													6	74					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73235187	73235187	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:73235187G>T	uc004aid.3	-	14	2142	c.1898C>A	c.(1897-1899)cCc>cAc	p.P633H	TRPM3_uc004ahu.3_Missense_Mutation_p.P463H|TRPM3_uc004ahv.3_Missense_Mutation_p.P435H|TRPM3_uc004ahw.3_Missense_Mutation_p.P505H|TRPM3_uc004ahx.3_Missense_Mutation_p.P492H|TRPM3_uc004ahy.3_Missense_Mutation_p.P495H|TRPM3_uc004ahz.3_Missense_Mutation_p.P482H|TRPM3_uc004aia.3_Missense_Mutation_p.P480H|TRPM3_uc004aib.3_Missense_Mutation_p.P470H|TRPM3_uc004aic.3_Missense_Mutation_p.P633H	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	658						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAAAGGGAAGGGGAAGTGGTT	0.522000													7	197					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24731088	24731088	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:24731088C>A	uc001wod.3	-	3	444	c.320_splice	c.e3-1	p.E107_splice	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	107					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTAGCATGCCCTCTGCAAGGA	0.577000													5	81					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37646805	37646805	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:37646805C>A	uc002ofo.1	-	3	485	c.254G>T	c.(253-255)tGg>tTg	p.W85L	ZNF585A_uc002ofm.1_Missense_Mutation_p.W30L|ZNF585A_uc002ofn.1_Missense_Mutation_p.W30L	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGCAGTGCCCATGGTTCCTT	0.512000													5	87					0	0	1	0	0
SYP	6855	broad.mit.edu	37	X	49050744	49050744	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:49050744G>T	uc004dmz.1	-	3	318	c.302C>A	c.(301-303)tCc>tAc	p.S101Y	SYP_uc011mmz.1_5'UTR	NM_003179	NP_003170	P08247	SYPH_HUMAN	Homo sapiens synaptophysin (SYP), mRNA.	101	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GGCTGACGAGGAGTAGTCCCC	0.572000													4	31					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235840464	235840464	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:235840464C>A	uc001hxj.2	-	49	11140	c.10965G>T	c.(10963-10965)gcG>gcT	p.A3655A	LYST_uc001hxi.2_Silent_p.A879A	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3655					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.A3655A(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTTGTGTCCCGCCAGACTTT	0.388000													5	104					0	0	1	0	0
FEM1B	10116	broad.mit.edu	37	15	68582486	68582486	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:68582486C>A	uc002arg.3	+	1	1405	c.790C>A	c.(790-792)Cgt>Agt	p.R264S	FEM1B_uc002arh.3_Missense_Mutation_p.R184S	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	Homo sapiens fem-1 homolog b (C. elegans) (FEM1B), mRNA.	264					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGCAAATGACCGTGAGAACTA	0.418000													7	177					0	0	1	0	0
MAP3K2	10746	broad.mit.edu	37	2	128079650	128079650	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:128079650G>T	uc002toj.2	-	10	1117	c.1017C>A	c.(1015-1017)acC>acA	p.T339T		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 2 (MAP3K2), mRNA.	339					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TGTCCATTACGGTCAAAGTAG	0.378000													3	25					0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79682751	79682751	+	Silent	SNP	C	C	A	rs141437548		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:79682751C>A	uc010wut.2	+	7	954	c.822C>A	c.(820-822)ccC>ccA	p.P274P	SLC25A10_uc002kbi.3_Silent_p.P119P|SLC25A10_uc010dif.3_Silent_p.P119P|SLC25A10_uc010wuu.2_Silent_p.P73P	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	119					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGGGGACGCCCGCAGACTTGG	0.657000													6	139					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37194025	37194025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:37194025G>T	uc002xiw.3	+	24	3978	c.3721G>T	c.(3721-3723)Gga>Tga	p.G1241*	RALGAPB_uc002xix.3_Nonsense_Mutation_p.G1238*|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Nonsense_Mutation_p.G1020*	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1241	Rap-GAP.				activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	p.G1241E(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGAAGATATTGGAGCTAGCAT	0.383000													6	174					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575235	74575235	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:74575235G>T	uc001dfy.4	-	4	902	c.710C>A	c.(709-711)cCt>cAt	p.P237H	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	237	IQ.							p.S236S(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GAAAAACACAGGGCTGAATAT	0.318000													6	107					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28285189	28285189	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:28285189G>T	uc001bpg.3	+	7	1399	c.1208G>T	c.(1207-1209)gGg>gTg	p.G403V	SMPDL3B_uc010ofq.2_Missense_Mutation_p.G197V|SMPDL3B_uc010ofr.2_Missense_Mutation_p.G355V|XKR8_uc001bph.1_5'Flank	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	403					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TACTCTGCTGGGGTCTGCGAC	0.617000													7	121					0	0	1	0	0
FAM125B	89853	broad.mit.edu	37	9	129102865	129102865	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:129102865G>T	uc004bqh.2	+	1	246	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W	FAM125B_uc004bqg.2_Missense_Mutation_p.G54W|FAM125B_uc011lzy.2_Missense_Mutation_p.G39W	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA.	54	MABP.				protein transport	late endosome membrane		p.G54W(2)		kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1)	10						CACGGGAGTCGGGGTGGTGGC	0.483000													4	67					0	0	1	0	0
HSPA1A	3303	broad.mit.edu	37	6	31785376	31785376	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:31785376G>T	uc003nxj.3	+	0	2086	c.1843G>T	c.(1843-1845)Ggt>Tgt	p.G615C	HSPA1L_uc003nxh.3_5'Flank|HSPA1L_uc010jte.3_5'Flank|HSPA1A_uc003nxi.1_Missense_Mutation_p.G450C|HSPA1L_uc011dok.1_Non-coding_Transcript	NM_005345	NP_005337	P08107	HSP71_HUMAN	Homo sapiens heat shock 70kDa protein 1A (HSPA1A), mRNA.	615					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein N-terminus binding|protein binding involved in protein folding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						CCAGGGTGCCGGTGGTCCCGG	0.622000													5	114					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43939470	43939470	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:43939470C>A	uc010yny.2	+	14	2491	c.2408C>A	c.(2407-2409)cCa>cAa	p.P803Q	PLEKHH2_uc002rte.3_3'UTR|PLEKHH2_uc002rtf.3_Missense_Mutation_p.P802Q	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	803						cytoplasm|cytoskeleton|integral to membrane	binding	p.P803S(1)		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)				GCTGCCAACCCACTTTCCCTG	0.468000													5	81					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30012774	30012774	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:30012774C>A	uc001zcr.3	-	18	3026	c.2551G>T	c.(2551-2553)Ggg>Tgg	p.G851W	TJP1_uc010azl.3_Missense_Mutation_p.G839W|TJP1_uc001zcq.3_Missense_Mutation_p.G855W|TJP1_uc001zcs.3_Missense_Mutation_p.G851W	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	851					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GTGTAGGCCCCGCCTTCTGTG	0.488000													5	94					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125827655	125827655	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:125827655G>T	uc011lzh.2	+	13	1957	c.1823G>T	c.(1822-1824)cGg>cTg	p.R608L	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_5'UTR	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	608	Rab-GAP TBC.				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						GCTATCACCCGGGATATTAAC	0.413000													7	204					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50398407	50398407	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:50398407C>A	uc002pqv.2	-	6	1139	c.310G>T	c.(310-312)Ggg>Tgg	p.G104W	IL4I1_uc002pqt.1_Missense_Mutation_p.G95W|IL4I1_uc021uxy.1_Missense_Mutation_p.G117W|IL4I1_uc002pqu.2_Missense_Mutation_p.G117W|IL4I1_uc010eno.2_Missense_Mutation_p.G103W	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	95						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		ATGCGGCCCCCGATCCTGTTA	0.647000													4	67					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	994256	994256	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:994256C>A	uc021qss.1	+	18	5709	c.5066C>A	c.(5065-5067)cCg>cAg	p.P1689Q	WNK1_uc001qio.4_Missense_Mutation_p.P1429Q|WNK1_uc021qst.1_Missense_Mutation_p.P1681Q|WNK1_uc001qip.4_Missense_Mutation_p.P1182Q|WNK1_uc001qir.4_Missense_Mutation_p.P602Q	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1429					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACTACATCCCCGTCACTTCAA	0.478000													7	230					0	0	1	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482313	152482313	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:152482313C>A	uc022chs.1	-	0	698	c.698G>T	c.(697-699)gGg>gTg	p.G233V	MAGEA1_uc004fhf.2_Missense_Mutation_p.G233V	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	233	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGGCTCCCCATAGGCACT	0.577000													6	92					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55184426	55184426	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:55184426C>A	uc010wnl.2	+	2	1883	c.1601C>A	c.(1600-1602)cCg>cAg	p.P534Q	AKAP1_uc002iux.3_Missense_Mutation_p.P534Q|AKAP1_uc021uak.1_Missense_Mutation_p.P534Q|AKAP1_uc010dcm.3_Missense_Mutation_p.P534Q|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	534					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GCCATCACCCCGCCACTGCCA	0.577000													7	173					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120989332	120989332	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:120989332C>A	uc010rzo.2	+	5	1108	c.1108C>A	c.(1108-1110)Cgc>Agc	p.R370S		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	370	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAATGAACACCGCAGAGGTTC	0.542000													5	112					0	0	1	0	0
YIPF2	78992	broad.mit.edu	37	19	11038360	11038360	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:11038360C>A	uc002mqc.3	-	3	352	c.225G>T	c.(223-225)ccG>ccT	p.P75P	YIPF2_uc002mqb.3_Silent_p.P75P|C19orf52_uc002mqd.2_5'Flank	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Homo sapiens Yip1 domain family, member 2 (YIPF2), mRNA.	75						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						TCCAGAATCCCGgctgctgct	0.622000													5	47					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348394	89348394	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:89348394C>A	uc002fmx.1	-	8	5017	c.4556G>T	c.(4555-4557)aGg>aTg	p.R1519M	ANKRD11_uc002fmy.1_Missense_Mutation_p.R1519M|ANKRD11_uc002fnc.1_Missense_Mutation_p.R1519M|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.R1476M	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1519	Lys-rich.					nucleus		p.S1518C(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCCTCGTCCCTGGACTTGTC	0.612000													6	91					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510828	169510828	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:169510828G>T	uc001ggg.1	-	12	3645	c.3500C>A	c.(3499-3501)cCc>cAc	p.P1167H		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1167	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.P1167T(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TATATCTGTGGGGAAGGACTT	0.502000													9	257					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116718263	116718263	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:116718263C>A	uc001ppy.3	-	21	3599	c.3563G>T	c.(3562-3564)cGg>cTg	p.R1188L	SIK3_uc001ppz.3_Missense_Mutation_p.R1027L|SIK3_uc001pqa.3_Missense_Mutation_p.R1128L|SIK3_uc001ppw.3_Missense_Mutation_p.R545L|SIK3_uc001ppx.3_Missense_Mutation_p.R566L	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	1188						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATCCGACATCCGGGCAGAGCT	0.512000													7	214					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497602	1497602	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:1497602C>A	uc003wpl.3	+	1	840	c.743C>A	c.(742-744)cCc>cAc	p.P248H	DLGAP2_uc003wpm.3_Missense_Mutation_p.P248H	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	327					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CACTGCTACCCCGACGCGCTG	0.672000													7	149					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116718203	116718203	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:116718203C>A	uc001ppy.3	-	21	3659	c.3623G>T	c.(3622-3624)gGg>gTg	p.G1208V	SIK3_uc001ppz.3_Missense_Mutation_p.G1047V|SIK3_uc001pqa.3_Missense_Mutation_p.G1148V|SIK3_uc001ppw.3_Missense_Mutation_p.G565V|SIK3_uc001ppx.3_Missense_Mutation_p.G586V	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	1208						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTCATTTTCCCCATCCTGAAA	0.562000													9	278					0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20764556	20764556	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:20764556C>A	uc001vwt.3	-	5	746	c.689G>T	c.(688-690)aGg>aTg	p.R230M	TTC5_uc001vwu.3_Missense_Mutation_p.R87M	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	230					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TACCGTCGCCCTGTTCAGATG	0.423000													8	250					0	0	1	0	0
AKT1S1	84335	broad.mit.edu	37	19	50374959	50374959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:50374959C>A	uc002pql.4	-	3	1198	c.472G>T	c.(472-474)Gag>Tag	p.E158*	AKT1S1_uc002pqn.4_Nonsense_Mutation_p.E158*|AKT1S1_uc002pqm.4_Nonsense_Mutation_p.E158*	NM_032375	NP_115751	Q96B36	AKTS1_HUMAN	Homo sapiens AKT1 substrate 1 (proline-rich) (AKT1S1), transcript variant 1, mRNA.	158					negative regulation of TOR signaling cascade|negative regulation of cell size|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GGGGTCTCCTCGCTCAGGCTG	0.667000													4	93					0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356768	104356768	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:104356768C>A	uc004bbr.3	-	0	516	c.445G>T	c.(445-447)Ggg>Tgg	p.G149W	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	146	EF-hand 4.						calcium ion binding	p.D148N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	GATATCTTCCCATCGCCATCC	0.517000													6	79					0	0	1	0	0
DCAF16	54876	broad.mit.edu	37	4	17805633	17805633	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:17805633G>T	uc003gpn.3	-	2	1193	c.132C>A	c.(130-132)ccC>ccA	p.P44P	DCAF16_uc021xmp.1_Silent_p.P44P	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 16 (DCAF16), mRNA.	44						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GCGATAAGTTGGGCACCATAG	0.408000													5	104					0	0	1	0	0
ZNF358	140467	broad.mit.edu	37	19	7585113	7585113	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:7585113G>T	uc002mgn.2	+	1	1155	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W	ZNF358_uc021unu.1_Missense_Mutation_p.G329W|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	329					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CAAAGCCTTCGGGCAGAGCTC	0.701000													5	121					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57752294	57752294	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:57752294G>T	uc002emi.3	+	7	1202	c.1113G>T	c.(1111-1113)tgG>tgT	p.W371C	CCDC135_uc002emj.3_Missense_Mutation_p.W371C|CCDC135_uc002emk.3_Missense_Mutation_p.W306C	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	371						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGTGAGATGGGAGTACATGC	0.527000													8	172					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52603844	52603844	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:52603844G>T	uc001vgb.3	+	1	1466	c.904G>T	c.(904-906)Ggg>Tgg	p.G302W	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Missense_Mutation_p.G302W	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	302					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCAAAACAGTGGGAAATGGGC	0.443000													6	120					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183881372	183881372	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:183881372C>A	uc001gqm.3	+	15	2285	c.1824C>A	c.(1822-1824)ccC>ccA	p.P608P	RGL1_uc010pof.1_Silent_p.P378P|RGL1_uc010pog.2_Silent_p.P571P|RGL1_uc010poh.2_Silent_p.P571P|RGL1_uc001gqo.3_Silent_p.P573P|RGL1_uc010poi.2_Silent_p.P544P	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	573	Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCATTACTCCCATGGACACCC	0.527000													5	43					0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	550100	550100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:550100C>A	uc010qvz.2	+	7	957	c.452C>A	c.(451-453)tCg>tAg	p.S151*		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	151										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AACAACATCTCGGACCTGAGC	0.667000													5	87					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24834018	24834018	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:24834018C>A	uc001iru.4	+	19	5723	c.5320C>A	c.(5320-5322)Cgc>Agc	p.R1774S	KIAA1217_uc001irs.3_Missense_Mutation_p.R1095S|KIAA1217_uc001irt.4_Missense_Mutation_p.R1140S|KIAA1217_uc010qcy.2_Missense_Mutation_p.R1205S|KIAA1217_uc010qcz.2_Missense_Mutation_p.R1180S|KIAA1217_uc001irw.3_Missense_Mutation_p.R924S|KIAA1217_uc001irz.3_Missense_Mutation_p.R858S|KIAA1217_uc001irx.3_Missense_Mutation_p.R1457S|KIAA1217_uc001iry.3_Missense_Mutation_p.R898S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1774					embryonic skeletal system development	cytoplasm		p.R1774S(2)|p.R1774H(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCAGGATCCCCGCCAATATCG	0.502000													4	58					0	0	1	0	0
C5orf55	116349	broad.mit.edu	37	5	442821	442821	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:442821C>A	uc010ita.3	-	0	438	c.117G>T	c.(115-117)gcG>gcT	p.A39A	EXOC3_uc003jba.3_5'Flank	NM_138464	NP_612473	Q8N2X6	CE055_HUMAN	Homo sapiens chromosome 5 open reading frame 55 (C5orf55), mRNA.	39						extracellular region				large_intestine(1)|lung(2)	3						CAACCTTCTCCGCTTTGGTTT	0.602000													7	246					0	0	1	0	0
OLFML3	56944	broad.mit.edu	37	1	114524121	114524121	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:114524121C>A	uc001eer.1	+	2	1060	c.951C>A	c.(949-951)ccC>ccA	p.P317P	OLFML3_uc001ees.1_Silent_p.P297P|OLFML3_uc001eet.1_Silent_p.P173P	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	317	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCATGTCCCAGAGAGAATG	0.572000													5	72					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433778	73433778	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:73433778G>T	uc003dpl.1	-	9	2035	c.1939C>A	c.(1939-1941)Cgc>Agc	p.R647S	PDZRN3_uc011bgh.1_Missense_Mutation_p.R304S|PDZRN3_uc010hoe.1_Missense_Mutation_p.R345S|PDZRN3_uc021xaq.1_5'UTR|PDZRN3_uc011bgf.1_Missense_Mutation_p.R364S|PDZRN3_uc011bgg.1_Missense_Mutation_p.R367S	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	647							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)		AGGAGCTCGCGGAAGCGCTCG	0.662000													5	114					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169342917	169342917	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:169342917G>T	uc021xuh.1	-	15	2498	c.2388C>A	c.(2386-2388)ccC>ccA	p.P796P	DDX60L_uc003irq.4_Silent_p.P796P|DDX60L_uc003irr.1_Silent_p.P796P|DDX60L_uc003irs.1_Silent_p.P523P	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	796	Helicase ATP-binding.						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)		CTACCTTTGCGGGTGCAACGT	0.458000													5	225					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183177058	183177058	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:183177058G>T	uc001gqa.2	+	1	436	c.122G>T	c.(121-123)cGg>cTg	p.R41L	LAMC2_uc001gpz.4_Missense_Mutation_p.R41L|LAMC2_uc010poa.2_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	41	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						ATCTTTGATCGGGAACTTCAC	0.448000													10	261					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292882	33292882	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:33292882C>A	uc001wrq.3	+	12	6033	c.5863C>A	c.(5863-5865)Caa>Aaa	p.Q1955K		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1955					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATTTGTTTCCCAAGATGTTAG	0.393000													6	89					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5014886	5014886	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:5014886G>T	uc001iho.3	+	11	1632	c.791G>T	c.(790-792)gGg>gTg	p.G264V	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc001ihq.3_Missense_Mutation_p.G264V	NM_001353	NP_001344	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	264					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.G264V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CTACAGCGTGGGGTTGTGGTC	0.602000													6	95					0	0	1	0	0
CXXC5	51523	broad.mit.edu	37	5	139060650	139060650	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:139060650C>A	uc010jfg.1	+	1	832	c.542C>A	c.(541-543)cCg>cAg	p.P181Q	CXXC5_uc003let.2_Missense_Mutation_p.P181Q	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	181					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCATCTCCCGCTGATGAGC	0.662000													4	43					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42641676	42641676	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:42641676C>A	uc001zpi.3	+	21	2828	c.2514C>A	c.(2512-2514)tcC>tcA	p.S838S	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_5'UTR	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	838					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		CATTCTGTTCCAGTGTTCTGA	0.393000													5	119					0	0	1	0	0
MRPL16	54948	broad.mit.edu	37	11	59573832	59573832	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:59573832G>T	uc001noh.2	-	3	958	c.744C>A	c.(742-744)ccC>ccA	p.P248P		NM_017840	NP_060310	Q9NX20	RM16_HUMAN	Homo sapiens mitochondrial ribosomal protein L16 (MRPL16), nuclear gene encoding mitochondrial protein, mRNA.	248							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						ACACACGTTTGGGCATGTAGA	0.473000													7	233					0	0	1	0	0
CBWD6	644019	broad.mit.edu	37	9	69205586	69205586	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:69205586C>A	uc004afj.4	-	14	1058	c.952_splice	c.e14-1	p.G318_splice	CBWD6_uc004afk.4_Splice_Site|CBWD6_uc011lrf.2_Splice_Site	NM_001085457	NP_001078926	Q4V339	CBWD6_HUMAN	Homo sapiens COBW domain containing 6 (CBWD6), mRNA.	318	CobW C-terminal.						ATP binding			lung(4)	4						GACACCAATCCCTGCTCAAAG	0.408000													7	158					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	970664	970664	+	Silent	SNP	C	C	A	rs148157593		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:970664C>A	uc001ack.2	+	2	521	c.471C>A	c.(469-471)ccC>ccA	p.P157P		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	157	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.P157P(2)|p.P157T(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAGATAAACCCGGGACCCACT	0.617000													6	209					0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94797094	94797094	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:94797094G>T	uc011ltv.1	-	13	1364	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P	SPTLC1_uc004arl.1_Silent_p.P442P			O15269	SPTC1_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), transcript variant 1, mRNA.	442						SPOTS complex|integral to membrane	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAACTGACCTGGGAGGAGGGA	0.388000													6	153					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023820	18023820	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:18023820C>A	uc001ban.3	+	28	3944	c.3785C>A	c.(3784-3786)cCg>cAg	p.P1262Q	ARHGEF10L_uc001bao.3_Missense_Mutation_p.P1223Q|ARHGEF10L_uc001bap.3_Missense_Mutation_p.P1218Q|ARHGEF10L_uc001baq.3_Missense_Mutation_p.P1023Q|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.P1035Q|ARHGEF10L_uc001bar.3_Missense_Mutation_p.P965Q|ARHGEF10L_uc009vpf.3_Non-coding_Transcript|ARHGEF10L_uc001bas.3_Missense_Mutation_p.P286Q	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1262					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGGCAGGCCCCGTGTGGGGAG	0.657000													5	98					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111962547	111962547	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:111962547G>T	uc004bdz.1	-	19	2309	c.2014C>A	c.(2014-2016)Cga>Aga	p.R672R		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	672						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCTCACTCGGGGAGGCTTG	0.398000													4	94					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87782413	87782413	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:87782413C>A	uc002fki.3	-	4	474	c.372G>T	c.(370-372)gcG>gcT	p.A124A	KLHDC4_uc010cht.2_5'UTR|KLHDC4_uc002fkj.3_Silent_p.A124A|KLHDC4_uc002fkl.3_Silent_p.A67A|KLHDC4_uc010chu.1_5'UTR	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA.	124										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GCACTACCACCGCCTGTGAAA	0.577000													6	169					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175304874	175304874	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:175304874C>A	uc001gkp.1	-	17	3685	c.3604G>T	c.(3604-3606)Ggg>Tgg	p.G1202W	TNR_uc009wwu.1_Missense_Mutation_p.G1202W	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1202	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.F1201F(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCACGTTCCCGAAGCCAACA	0.438000													6	144					0	0	1	0	0
HEY1	23462	broad.mit.edu	37	8	80679461	80679461	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:80679461C>A	uc003ybm.3	-	1	358	c.158G>T	c.(157-159)cGg>cTg	p.R53L	HEY1_uc010lzq.3_5'Flank|HEY1_uc003ybl.3_Missense_Mutation_p.R53L	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 1 (HEY1), transcript variant 1, mRNA.	53	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				Notch signaling pathway|angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R53L(3)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			CACTCCTCTCCGTCTTTTTCT	0.363000			T	NCOA2	mesenchymal chondrosarcoma								10	312					0	0	1	0	0
C1orf198	84886	broad.mit.edu	37	1	230979323	230979323	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:230979323G>T	uc001hub.3	-	2	748	c.704C>A	c.(703-705)cCg>cAg	p.P235Q	C1orf198_uc009xfh.2_Missense_Mutation_p.P105Q|C1orf198_uc001huc.2_Missense_Mutation_p.P18Q|C1orf198_uc001hud.2_Missense_Mutation_p.P197Q	NM_032800	NP_001129967	Q9H425	CA198_HUMAN	Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA.	235								p.P235L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCTGTCCTTCGGGGCAGGTTC	0.637000													4	70					0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31541429	31541429	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:31541429C>A	uc011dnu.1	+	3	790	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	LTA_uc003nue.1_Missense_Mutation_p.L193I|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Intron|LTA_uc003nug.3_Missense_Mutation_p.P102H|LTA_uc010jsr.3_Non-coding_Transcript|TNF_uc003nui.3_5'Flank|TNF_uc003nuj.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	193					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCACCTAGTCCTCAGCCCTAG	0.522000													8	207					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104640111	104640111	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:104640111G>T	uc001yos.4	+	9	1936	c.1936G>T	c.(1936-1938)Ggg>Tgg	p.G646W		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	646	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGGCAGGGCCGGGGAGGCTGC	0.662000													4	28					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27447990	27447990	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:27447990G>T	uc002rji.3	+	10	1661	c.1499G>T	c.(1498-1500)cGg>cTg	p.R500L	CAD_uc010eyw.3_Missense_Mutation_p.R500L	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	500	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TATGGGGTCCGGGTCCTGGGC	0.627000													4	47					0	0	1	0	0
CIR1	9541	broad.mit.edu	37	2	175243670	175243670	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:175243670C>A	uc002uim.3	-	6	558	c.465G>T	c.(463-465)tcG>tcT	p.S155S	CIR1_uc002uin.3_Missense_Mutation_p.R20L	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	Homo sapiens corepressor interacting with RBPJ, 1 (CIR1), mRNA.	155					RNA splicing|mRNA processing|negative regulation of transcription, DNA-dependent	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.S155L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CAGTGGGAACCGAACTTGCAT	0.413000													5	100					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84806234	84806234	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:84806234G>T	uc010voe.2	+	12	2349	c.2098G>T	c.(2098-2100)Ggg>Tgg	p.G700W	USP10_uc002fii.3_Missense_Mutation_p.G696W|USP10_uc010vof.2_Missense_Mutation_p.G258W|USP10_uc002fij.3_Missense_Mutation_p.G222W	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	696					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GAAGACTGGTGGGTGCCAGAA	0.438000													7	174					0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34964758	34964758	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:34964758C>A	uc002hne.3	+	4	1184	c.969C>A	c.(967-969)ccC>ccA	p.P323P	MRM1_uc002hnf.3_Silent_p.P128P	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	Homo sapiens mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) (MRM1), nuclear gene encoding mitochondrial protein, mRNA.	323					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCCAAGACCCCCAAGAACCCT	0.567000													7	157					0	0	1	0	0
BNIP2	663	broad.mit.edu	37	15	59961556	59961556	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:59961556C>A	uc010uhc.2	-	7	1079	c.1076G>T	c.(1075-1077)cGg>cTg	p.R359L	BNIP2_uc010uhb.2_Missense_Mutation_p.R300L	NM_004330	NP_004321	Q12982	BNIP2_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 2 (BNIP2), mRNA.	238					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	GTPase activator activity|calcium ion binding|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						TAGATTTTTCCGTAACCTGGA	0.284000													4	77					0	0	1	0	0
PSME2	5721	broad.mit.edu	37	14	24614267	24614267	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:24614267C>A	uc001wmj.3	-	6	425	c.360_splice	c.e6+1	p.L120_splice	RNF31_uc001wml.1_5'Flank|RNF31_uc001wmm.1_5'Flank|RNF31_uc001wmn.1_5'Flank|RNF31_uc010alg.1_5'Flank	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 2 (PA28 beta) (PSME2), mRNA.	120					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CCAGGCTTACCAGAATGCATT	0.502000													7	239					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804794	27804794	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:27804794C>A	uc002rkz.4	+	0	5406	c.5355C>A	c.(5353-5355)ccC>ccA	p.P1785P	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1785	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCACAGTCCCTCAGAGAAAA	0.542000													7	234					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7535101	7535101	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:7535101G>A	uc002mgi.3	+	18	3692	c.3439G>A	c.(3439-3441)Ggg>Agg	p.G1147R	ARHGEF18_uc010xjm.1_Missense_Mutation_p.G989R|ARHGEF18_uc002mgh.3_Missense_Mutation_p.G989R|ARHGEF18_uc002mgj.1_Missense_Mutation_p.G784R|ARHGEF18_uc021unt.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	1147	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCTCCTGCCCGGGCCCCCAGC	0.672000													42	47					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74105415	74105415	+	Missense_Mutation	SNP	G	G	T	rs146598910	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:74105415G>T	uc003uau.3	+	2	580	c.210G>T	c.(208-210)aaG>aaT	p.K70N	GTF2I_uc003uat.3_Missense_Mutation_p.K70N|GTF2I_uc003uav.3_Missense_Mutation_p.K70N|GTF2I_uc003uaw.3_Missense_Mutation_p.K70N|GTF2I_uc003uay.3_Missense_Mutation_p.K70N|GTF2I_uc003uax.3_Missense_Mutation_p.K70N	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	70					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						ATACCAGAAAGGATTTTCAAA	0.348000													7	97					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131128	45131128	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:45131128G>T	uc002xsa.3	-	3	1381	c.919C>A	c.(919-921)Cga>Aga	p.R307R	ZNF334_uc002xsb.3_Silent_p.R246R|ZNF334_uc002xsd.3_Silent_p.R246R|ZNF334_uc002xsc.3_Silent_p.R284R|ZNF334_uc010ghl.3_Silent_p.R283R			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	284					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)				TGAATTCTTCGGTGTCGAGTG	0.418000													5	143					0	0	1	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166912	96166912	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:96166912G>T	uc022ayk.1	+	0	640	c.640G>T	c.(640-642)Ggg>Tgg	p.G214W	PLEKHF2_uc003yhn.2_Missense_Mutation_p.G214W	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA.	214						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GCTTTCTGCTGGGGACATGGC	0.478000													6	163					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8595449	8595449	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:8595449G>T	uc002mkg.3	-	19	2190	c.2052C>A	c.(2050-2052)ctC>ctA	p.L684L		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	684						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCTCCTCCAGGAGGAAAAGCT	0.652000													6	104					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34823167	34823167	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:34823167C>A	uc003jis.3	+	16	1768	c.1229C>A	c.(1228-1230)cCa>cAa	p.P410Q	RAI14_uc003jir.3_Missense_Mutation_p.P407Q|RAI14_uc010iur.3_Missense_Mutation_p.P378Q|RAI14_uc011coj.2_Missense_Mutation_p.P407Q|RAI14_uc003jit.3_Missense_Mutation_p.P407Q|RAI14_uc011cok.2_Missense_Mutation_p.P399Q	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	407						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACCTCTCCCCCAGACTCCAAA	0.458000													5	78					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168810878	168810878	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:168810878G>A	uc011bpj.1	-	13	3435	c.3032C>T	c.(3031-3033)tCg>tTg	p.S1011L	MECOM_uc010hwk.1_Missense_Mutation_p.S837L|MECOM_uc003ffj.3_Missense_Mutation_p.S888L|MECOM_uc003ffi.3_Missense_Mutation_p.S823L|MECOM_uc011bpi.1_Missense_Mutation_p.S815L|MECOM_uc003ffn.3_Missense_Mutation_p.S823L|MECOM_uc003ffk.2_Missense_Mutation_p.S814L|MECOM_uc003ffl.2_Missense_Mutation_p.S974L|MECOM_uc011bpk.1_Missense_Mutation_p.S823L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATGAGGCGACGATGTTGCTGT	0.388000													39	64					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64819661	64819661	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:64819661C>A	uc001ssb.3	+	14	2145	c.1639C>A	c.(1639-1641)Ctg>Atg	p.L547M		NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	547	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GACGGCTTACCTGTTTTCTAG	0.348000													10	244					0	0	1	0	0
PDHX	8050	broad.mit.edu	37	11	34988314	34988314	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:34988314C>A	uc001mvt.3	+	5	1295	c.769C>A	c.(769-771)Cgg>Agg	p.R257R	PDHX_uc010rep.2_Silent_p.R242R|PDHX_uc010req.2_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	257					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			ATCTTATCCCCGGCCTGTGAT	0.493000													4	101					0	0	1	0	0
C1orf55	163859	broad.mit.edu	37	1	226175877	226175877	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:226175877G>T	uc001hpu.4	-	5	907	c.854C>A	c.(853-855)cCg>cAg	p.P285Q		NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA.	285										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(184;0.197)					GTCAGTCACCGGGATCTGCAG	0.502000													7	185					0	0	1	0	0
LGALS7B	653499	broad.mit.edu	37	19	39281351	39281351	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:39281351G>T	uc002ojf.4	+	2	135	c.118G>T	c.(118-120)Ggg>Tgg	p.G40W		NM_001042507	NP_002298	P47929	LEG7_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 7B (LGALS7B), mRNA.	40	Galectin.				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding										CCTGCTGTGCGGGGAGGAGCA	0.612000													4	55					0	0	1	0	0
DDX56	54606	broad.mit.edu	37	7	44612250	44612250	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:44612250G>T	uc003tlg.3	-	3	1120	c.477C>A	c.(475-477)tcC>tcA	p.S159S	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Silent_p.S159S|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	159	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						AAAGCTCCAGGGAGTCACGAA	0.512000													7	173					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180051010	180051010	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:180051010C>A	uc003mlz.4	-	10	1552	c.1473G>T	c.(1471-1473)gcG>gcT	p.A491A	FLT4_uc003mma.4_Silent_p.A491A|FLT4_uc003mmb.1_Silent_p.A24A|FLT4_uc011dgy.2_Silent_p.A491A	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	491	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCGTGGTCACCGCCCTCCAGT	0.632000													4	65					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362932	105362932	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:105362932C>A	uc010qqu.1	-	11	1855	c.1788G>T	c.(1786-1788)atG>atT	p.M596I	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.M488I|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.M530I|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.M488I|SH3PXD2A_uc001kxj.1_Missense_Mutation_p.M653I	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	681					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGTTCTTCCCCATTTCTGCCT	0.532000													8	261					0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146798139	146798139	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:146798139C>A	uc003loo.3	-	2	724	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	DPYSL3_uc003lon.1_Missense_Mutation_p.G62W	NM_001197294	NP_001184223	Q14195	DPYL3_HUMAN	Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA.	62					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCATCTTCCCATTGGCTTCA	0.433000													7	228					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99012646	99012646	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:99012646C>A	uc010fij.3	+	7	1166	c.1025C>A	c.(1024-1026)cCa>cAa	p.P342Q	CNGA3_uc002syt.3_Missense_Mutation_p.P338Q|CNGA3_uc002syu.3_Missense_Mutation_p.P320Q			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	338					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGGGTCTACCCAAACATCTCA	0.493000													5	116					0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34857283	34857283	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:34857283G>T	uc002nvf.3	+	2	443	c.273G>T	c.(271-273)ctG>ctT	p.L91L	GPI_uc010xrv.2_Silent_p.L91L|GPI_uc002nvg.2_Silent_p.L52L|GPI_uc010xrw.2_Silent_p.L52L|GPI_uc002nvh.1_Silent_p.L356L	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	52					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGCATATCCTGGTGGATTACT	0.552000													7	160					0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63280185	63280185	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:63280185C>A	uc021vim.1	+	2	336	c.60C>A	c.(58-60)ccC>ccA	p.P20P	OTX1_uc002scd.3_Silent_p.P20P|OTX1_uc010ypt.2_5'UTR	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	20						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P20P(4)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					TGGCCGGGCCCGCCATGGACC	0.657000													5	154					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12331098	12331098	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:12331098C>A	uc001atv.3	+	16	2161	c.2020C>A	c.(2020-2022)Cga>Aga	p.R674R	VPS13D_uc001atw.3_Silent_p.R674R	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	674					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)		TGAAGCTGCCCGAAGACAATA	0.458000													5	54					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142921	31142921	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:31142921C>A	uc003tca.2	+	13	1406	c.1117C>A	c.(1117-1119)Cca>Aca	p.P373T	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.P401T|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.P400T|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.P352T|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.P401T|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.P131T	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	373					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGCCTTCTCCCCAGAGAATGT	0.562000													7	141					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156638318	156638318	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:156638318C>A	uc003lwo.1	+	2	346	c.264C>A	c.(262-264)ctC>ctA	p.L88L		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	88	PH.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAACTACCTCCTATATGTGT	0.507000			T	SYK	peripheral T-cell lymphoma								7	148					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897937	61897937	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:61897937C>A	uc001nsw.1	+	3	1140	c.938C>A	c.(937-939)cCg>cAg	p.P313Q	INCENP_uc009ynv.3_Missense_Mutation_p.P313Q|INCENP_uc009ynw.1_Missense_Mutation_p.P313Q|INCENP_uc001nsx.1_Missense_Mutation_p.P313Q	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	313					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCGTCTTCCCCGAGTCCCCAA	0.622000													6	106					0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206331106	206331106	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:206331106G>T	uc001hdu.3	+	8	1230	c.1112G>T	c.(1111-1113)gGg>gTg	p.G371V	CTSE_uc001hdv.3_Missense_Mutation_p.G324W|CTSE_uc010prs.2_Missense_Mutation_p.G249W	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	376					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGGATCCTGGGGGATGTCTTC	0.562000													7	223					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114135647	114135647	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:114135647C>A	uc004bfe.1	-	40	4751	c.4751G>T	c.(4750-4752)cGg>cTg	p.R1584L		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CACACTGTTCCGATCTGTCAG	0.373000													6	183					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113186999	113186999	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:113186999C>A	uc003eag.4	-	9	1433	c.1142G>T	c.(1141-1143)cGg>cTg	p.R381L	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.R277L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	381					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTTAAGGTACCGAACCAGGCG	0.473000													6	115					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10464744	10464744	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:10464744G>T	uc003wtc.3	-	3	7093	c.6864C>A	c.(6862-6864)ccC>ccA	p.P2288P		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2288					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTTTGGTGGGGAGTGTCTC	0.582000													9	282					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847439	28847439	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:28847439C>A	uc002dqy.3	+	21	3248	c.3081C>A	c.(3079-3081)ccC>ccA	p.P1027P	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Silent_p.P1027P|ATXN2L_uc002dra.3_Silent_p.P1027P|ATXN2L_uc002drb.3_Silent_p.P1027P|ATXN2L_uc002drc.3_Silent_p.P1027P|ATXN2L_uc010vdb.2_Silent_p.P1033P|ATXN2L_uc002dre.3_Silent_p.P1027P|ATXN2L_uc002drf.3_Silent_p.P436P|ATXN2L_uc002drg.3_Silent_p.P310P	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	1027						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCGGACACCCCCAAGGTGAGC	0.632000													6	117					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43288404	43288404	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:43288404G>T	uc001jaj.3	+	8	1260	c.902_splice	c.e8-1	p.G301_splice		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	301					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGTCTTCCAGGGGTAGGAGA	0.473000													8	216					0	0	1	0	0
INPP5K	51763	broad.mit.edu	37	17	1411458	1411458	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:1411458C>A	uc002fsr.3	-	5	1006	c.617G>T	c.(616-618)cGg>cTg	p.R206L	INPP5K_uc002fss.3_Missense_Mutation_p.R130L|INPP5K_uc002fsq.3_Missense_Mutation_p.R130L|INPP5K_uc010cjr.3_Missense_Mutation_p.R130L|INPP5K_uc010vql.2_Missense_Mutation_p.R114L|INPP5K_uc010vqm.2_Intron	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.	206	Catalytic (Potential).				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						AATGGATTCCCGAACAAAGTG	0.532000													8	382					0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38457849	38457849	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:38457849C>A	uc002huj.1	+	10	1792	c.1582C>A	c.(1582-1584)Cgt>Agt	p.R528S		NM_001254	NP_001245	Q99741	CDC6_HUMAN	Homo sapiens cell division cycle 6 homolog (S. cerevisiae) (CDC6), mRNA.	528					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitosis|negative regulation of DNA replication|negative regulation of cell proliferation|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	p.R528S(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CAAGGAAACCCGTTTGACAAA	0.413000													7	196					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9570166	9570166	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:9570166G>T	uc002koe.1	-	10	1680	c.1562C>A	c.(1561-1563)cCa>cAa	p.P521Q	PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Missense_Mutation_p.P367Q|PPP4R1_uc002kod.1_Missense_Mutation_p.P504Q|PPP4R1_uc010wzp.1_Non-coding_Transcript	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	521					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TTTAACATCTGGATCATCAAT	0.353000													5	100					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137495792	137495792	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:137495792C>A	uc003lcf.1	-	18	2553	c.2498G>T	c.(2497-2499)aGa>aTa	p.R833I	BRD8_uc011cyl.2_Missense_Mutation_p.R612I|BRD8_uc021yea.1_Missense_Mutation_p.R723I|BRD8_uc003lcg.3_Missense_Mutation_p.R906I|BRD8_uc003lci.3_Missense_Mutation_p.R836I|BRD8_uc011cym.2_Missense_Mutation_p.R817I|BRD8_uc011cyn.1_Missense_Mutation_p.R792I	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	833					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAGAATCTCTCCCTCGAAG	0.498000													7	164					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116339270	116339270	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:116339270C>A	uc003vij.3	+	1	319	c.132C>A	c.(130-132)ccC>ccA	p.P44P	MET_uc022akk.1_Silent_p.P44P|MET_uc010lkh.3_Silent_p.P44P|MET_uc011knc.1_Silent_p.P44P|MET_uc011knd.2_Silent_p.P44P|MET_uc011knf.2_Silent_p.P44P|MET_uc011kne.2_Silent_p.P44P|MET_uc011kng.1_Silent_p.P44P|MET_uc011knh.1_Silent_p.P44P|MET_uc011kni.2_Silent_p.P44P|MET_uc003vii.1_Silent_p.P63P|MET_uc010lkg.3_Silent_p.P44P|MET_uc011kmz.1_Silent_p.P44P|MET_uc011kna.1_Silent_p.P44P|MET_uc011knb.1_Silent_p.P44P	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	44	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATCAGCTTCCCAACTTCACCG	0.448000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				6	102					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14200143	14200143	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:14200143G>T	uc011ave.2	-	8	1344	c.1240C>A	c.(1240-1242)Cag>Aag	p.Q414K	XPC_uc011avf.2_Missense_Mutation_p.Q221K|XPC_uc011avg.2_Missense_Mutation_p.Q377K|XPC_uc021wtl.1_5'Flank|XPC_uc021wtm.1_5'UTR	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	414	Arg/Lys-rich (basic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGACGTCGCTGGGTTGCCTTC	0.602000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	198					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36396952	36396952	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:36396952C>A	uc001uvf.3	-	10	1751	c.1468G>T	c.(1468-1470)Ggg>Tgg	p.G490W	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Missense_Mutation_p.G183W|DCLK1_uc010teh.2_Missense_Mutation_p.G183W|DCLK1_uc010abk.3_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	490	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TACAGCATCCCACTGGCGTCT	0.493000													8	125					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11675890	11675890	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:11675890G>T	uc021zzo.1	-	1	1141	c.889C>A	c.(889-891)Cgc>Agc	p.R297S	THSD7A_uc021zzn.1_Missense_Mutation_p.R297S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	297						integral to membrane		p.R297C(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATAAGCTCGCGGGCTTCTGGA	0.463000										HNSCC(18;0.044)			6	212					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2290971	2290971	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:2290971G>T	uc002wfx.4	+	2	426	c.329G>T	c.(328-330)cGg>cTg	p.R110L		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	110					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CCCATAGGACGGTACACAATG	0.547000													6	224					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976804	106976804	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:106976804G>T	uc001kyi.1	+	18	2885	c.2658G>T	c.(2656-2658)gcG>gcT	p.A886A	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	886	PKD.					integral to membrane	neuropeptide receptor activity	p.A886V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATAAGAGTGCGGGGATCTTCC	0.527000													4	78					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101559501	101559501	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:101559501C>A	uc003uys.4	+	1	297	c.170C>A	c.(169-171)cCa>cAa	p.P57Q	CUX1_uc003uyw.3_Missense_Mutation_p.P57Q|CUX1_uc003uyv.3_Missense_Mutation_p.P57Q|CUX1_uc003uyt.3_Missense_Mutation_p.P57Q|CUX1_uc003uyu.3_Missense_Mutation_p.P57Q|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.P46Q	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	46					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L57L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGAACACTCCAGAGGTGAGG	0.537000													5	77					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122641020	122641020	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:122641020C>A	uc003yph.2	-	1	1099	c.561G>T	c.(559-561)tgG>tgT	p.W187C		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	187						integral to plasma membrane	hyaluronan synthase activity	p.W187*(2)|p.W187C(2)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTTTCCACCCCATTTTTGCA	0.463000													9	279					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629452	179629452	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:179629452C>A	uc021vsy.1	-	41	10015	c.9790G>T	c.(9790-9792)Gga>Tga	p.G3264*	TTN_uc021vsz.1_Nonsense_Mutation_p.G3218*|TTN_uc021vta.1_Nonsense_Mutation_p.G3218*|TTN_uc021vtb.1_Nonsense_Mutation_p.G3218*|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Nonsense_Mutation_p.G3264*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3264	Ig-like 19.						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)			TGTGGTCTTCCGGATATCACG	0.517000													5	163					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26491107	26491107	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:26491107C>A	uc003gse.1	-	2	266	c.113_splice	c.e2-1	p.E38_splice		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	38					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GGCTGCCACTCTGCAGAGAGA	0.547000													5	75					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	427793	427793	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:427793C>A	uc003jav.3	+	7	805	c.762C>A	c.(760-762)ccC>ccA	p.P254P	AHRR_uc003jaw.3_Intron|AHRR_uc010isy.3_Intron|AHRR_uc010isz.3_Intron|AHRR_uc003jax.3_Intron|AHRR_uc003jay.3_Intron	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TCTGCTGTCCCGAGCCACTCA	0.597000													5	93					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135621035	135621035	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:135621035C>A	uc003yup.3	-	4	908	c.722G>T	c.(721-723)cGg>cTg	p.R241L	ZFAT_uc003yun.3_Missense_Mutation_p.R229L|ZFAT_uc003yuo.3_Missense_Mutation_p.R229L|ZFAT_uc010meh.3_Missense_Mutation_p.R229L|ZFAT_uc010mej.3_Missense_Mutation_p.R179L|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.R229L|ZFAT_uc003yur.3_Missense_Mutation_p.R229L	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.T240I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTAGCCTCTCCGAGGCACCAG	0.507000													5	110					0	0	1	0	0
NAA40	79829	broad.mit.edu	37	11	63721499	63721499	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:63721499C>A	uc009yoz.3	+	6	677	c.550C>A	c.(550-552)Cag>Aag	p.Q184K	NAA40_uc010rmw.2_Missense_Mutation_p.Q144K|NAA40_uc010rmx.2_Missense_Mutation_p.Q163K|NAA40_uc010rmy.2_Non-coding_Transcript	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN	Homo sapiens N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) (NAA40), mRNA.	184	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						TGGTGCCTACCAGTTCTTCAG	0.502000													6	191					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20079145	20079145	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:20079145C>A	uc002zri.3	+	5	1923	c.1494C>A	c.(1492-1494)ccC>ccA	p.P498P	DGCR8_uc010grz.3_Silent_p.P498P|DGCR8_uc002zrj.3_Silent_p.P141P	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	498	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	p.A497T(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AAGATGCACCCACAAAGAAAG	0.443000													7	191					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12037474	12037474	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:12037474C>A	uc001qzz.3	+	5	1379	c.1105C>A	c.(1105-1107)Cgg>Agg	p.R369R	ETV6_uc001raa.1_Intron	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	369						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R369W(4)|p.R369L(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAAAATATTCCGGATAGTGGA	0.458000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								4	115					0	0	1	0	0
AAGAB	79719	broad.mit.edu	37	15	67500947	67500947	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:67500947C>A	uc002aqk.4	-	6	773	c.668G>T	c.(667-669)cGg>cTg	p.R223L	AAGAB_uc010uju.2_Missense_Mutation_p.R114L	NM_024666	NP_078942	Q6PD74	AAGAB_HUMAN	Homo sapiens alpha- and gamma-adaptin binding protein (AAGAB), mRNA.	223					protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGCACCACCCCGATGATCAGA	0.448000													6	112					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186646027	186646027	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:186646027C>A	uc001gsb.3	-	5	798	c.661G>T	c.(661-663)Ggt>Tgt	p.G221C	PTGS2_uc009wyo.3_Missense_Mutation_p.G68C	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	221					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	AGAGTTTCACCGTAAATATGA	0.313000													5	212					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4799604	4799604	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:4799604G>T	uc010vsl.2	+	28	3826	c.3582G>T	c.(3580-3582)tcG>tcT	p.S1194S	MINK1_uc010vsk.2_Silent_p.S1165S|MINK1_uc010vsm.2_Silent_p.S1174S|MINK1_uc010vsn.2_Silent_p.S1157S|MINK1_uc010vso.2_Silent_p.S1102S|MINK1_uc010vsp.2_Silent_p.S655S	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	1194	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ATGTCGACTCGGGGAACAGCT	0.622000													7	153					0	0	1	0	0
BTD	686	broad.mit.edu	37	3	15677018	15677018	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:15677018C>A	uc011avv.2	+	1	226	c.138C>A	c.(136-138)acC>acA	p.T46T	BTD_uc003cah.3_Silent_p.T44T|BTD_uc011avw.2_Silent_p.T46T|BTD_uc011avx.2_Silent_p.T24T	NM_000060	NP_000051	P43251	BTD_HUMAN	Homo sapiens biotinidase (BTD), mRNA.	44					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GAGCCCACACCGGGGAGGAGA	0.532000													5	151					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36475288	36475288	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:36475288G>T	uc003omg.3	-	6	1349	c.761C>A	c.(760-762)cCc>cAc	p.P254H	STK38_uc003omh.3_Missense_Mutation_p.P254H|STK38_uc003omi.3_Missense_Mutation_p.P254H	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	254	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAAATCACTGGGGAGGCTGTG	0.423000													10	432					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93982058	93982058	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:93982058G>T	uc003poe.3	-	5	1648	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P	EPHA7_uc003pof.3_Silent_p.P469P|EPHA7_uc011eac.2_Silent_p.P469P	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	469	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGACTCCATTGGGATGCTCTG	0.458000													6	184					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128330	147128330	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:147128330C>A	uc003ewe.3	+	0	1150	c.431C>A	c.(430-432)cCc>cAc	p.P144H		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	144					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTCCTCTTCCCCGGGCTTCAC	0.721000													4	20					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9868556	9868556	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:9868556G>T	uc001mib.2	-	22	3019	c.2881C>A	c.(2881-2883)Cag>Aag	p.Q961K	SBF2_uc001mif.3_Missense_Mutation_p.Q717K|U80769_uc001mig.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	961					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGCTGTAGCTGGTTCTGCATT	0.413000													7	179					0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92508800	92508800	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:92508800C>A	uc001kha.3	-	1	1334	c.1091G>T	c.(1090-1092)tGg>tTg	p.W364L	HTR7_uc001kgz.3_Missense_Mutation_p.W364L|HTR7_uc001khb.3_Missense_Mutation_p.W364L	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	364					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CCTCTCCACCCACAGTGGGAT	0.532000													6	110					0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27945952	27945952	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:27945952G>T	uc002hel.2	-	3	491	c.489C>A	c.(487-489)acC>acA	p.T163T	CORO6_uc002hem.3_5'Flank|CORO6_uc002hen.3_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	Homo sapiens coronin 6 (CORO6), mRNA.	163					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						GCACCTCCCCGGTGCCCACAT	0.587000													5	94					0	0	1	0	0
FANCF	2188	broad.mit.edu	37	11	22647136	22647136	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:22647136C>A	uc001mql.1	-	0	252	c.221G>T	c.(220-222)cGg>cTg	p.R74L		NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN	Homo sapiens Fanconi anemia, complementation group F (FANCF), mRNA.	74					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						AACTGGACCCCGCCCAAAGCC	0.667000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	68					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306228	14306228	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:14306228G>T	uc021war.1	-	0	1925	c.1925C>A	c.(1924-1926)cCa>cAa	p.P642Q	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.P642Q|FLRT3_uc002wow.2_Missense_Mutation_p.P642Q	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	642					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ATCTGAGTCTGGAATACCACT	0.413000													6	155					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142779718	142779718	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:142779718C>A	uc003lnd.3	-	1	1681	c.687G>T	c.(685-687)gcG>gcT	p.A229A	NR3C1_uc003lmy.3_Silent_p.A229A|NR3C1_uc003lmz.3_5'UTR|NR3C1_uc003lna.3_Silent_p.A229A|NR3C1_uc003lnb.3_Silent_p.A229A|NR3C1_uc011dbk.2_Intron|NR3C1_uc003lnf.3_Silent_p.A229A|NR3C1_uc003lne.3_Silent_p.A229A|NR3C1_uc003lnc.3_Silent_p.A229A|NR3C1_uc021yfa.1_Silent_p.A229A|NR3C1_uc021yfb.1_Silent_p.A229A|NR3C1_uc003lng.2_Silent_p.A229A|NR3C1_uc003lni.2_Silent_p.A229A	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	229	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CGTCTTCTCCCGCCAGAGGAG	0.438000													5	112					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102467587	102467587	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:102467587C>A	uc001yks.2	+	19	4455	c.4291C>A	c.(4291-4293)Ctt>Att	p.L1431I		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1431	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGAGCTAACCCTTGGCCAAAT	0.433000													12	375					0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46215684	46215684	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:46215684C>A	uc002pcz.3	-	1	1193	c.1070G>T	c.(1069-1071)cGg>cTg	p.R357L	FBXO46_uc002pcy.3_Missense_Mutation_p.R357L|FBXO46_uc021uvz.1_Missense_Mutation_p.R357L	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	357							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TCCGCAGTCCCGGGCAGGGGG	0.682000													4	33					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109383167	109383167	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:109383167G>T	uc002tem.4	+	19	6298	c.6172G>T	c.(6172-6174)Ggg>Tgg	p.G2058W		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2058	RanBD1 2.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAGGGGCTTGGGGAACTTAAA	0.383000													14	602					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53716447	53716447	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:53716447G>T	uc001cvi.2	-	16	2828	c.2591C>A	c.(2590-2592)cCa>cAa	p.P864Q	LRP8_uc001cvh.2_Missense_Mutation_p.P417Q|LRP8_uc001cvj.2_Missense_Mutation_p.P864Q|LRP8_uc001cvk.2_Missense_Mutation_p.P694Q|LRP8_uc001cvl.2_Missense_Mutation_p.P660Q|LRP8_uc001cvm.1_Missense_Mutation_p.P449Q	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	864					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCTGTAGACTGGGTTGTCAAA	0.463000													5	80					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685637	108685637	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:108685637C>A	uc009zuw.3	-	2	1294	c.1103G>T	c.(1102-1104)aGg>aTg	p.R368M	CMKLR1_uc001tmw.3_Missense_Mutation_p.R368M|CMKLR1_uc001tmv.3_Missense_Mutation_p.R366M|CMKLR1_uc009zuv.3_Missense_Mutation_p.R368M|CMKLR1_uc021rdj.1_Missense_Mutation_p.R366M	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	368					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.R366M(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GCCGGTCTCCCTCTCATTCAT	0.478000													6	114					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873742	24873742	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:24873742C>A	uc001isb.2	-	25	5963	c.5476G>T	c.(5476-5478)Ggg>Tgg	p.G1826W	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1825	Interaction with CTNNA1.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCTCTCTCCCCGCTCTGCTCA	0.498000													4	52					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35916055	35916055	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:35916055G>T	uc001byx.3	-	13	2376	c.2118C>A	c.(2116-2118)ccC>ccA	p.P706P	KIAA0319L_uc001byw.3_Silent_p.P148P|KIAA0319L_uc010ohv.1_Silent_p.P348P	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	706	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGTGCTCGTGGGTAGGGTAA	0.458000													5	104					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7721017	7721017	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:7721017C>A	uc002giu.1	+	64	10173	c.10159C>A	c.(10159-10161)Cga>Aga	p.R3387R	DNAH2_uc010cnm.1_Silent_p.R325R	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3387	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CATCGTCACCCGAGGCAACAG	0.602000													4	85					0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116547	28116547	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:28116547G>T	uc001rik.3	-	2	561	c.258C>A	c.(256-258)ccC>ccA	p.P86P	PTHLH_uc001ril.3_Silent_p.P86P|PTHLH_uc001rim.3_Silent_p.P86P|PTHLH_uc001rin.3_Silent_p.P86P	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	86					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					TCTTTGTGTTGGGAGAGGGCT	0.512000													7	207					0	0	1	0	0
GPR56	9289	broad.mit.edu	37	16	57690437	57690437	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:57690437G>T	uc002emb.2	+	9	1367	c.1075G>T	c.(1075-1077)Ggg>Tgg	p.G359W	GPR56_uc002elz.1_Missense_Mutation_p.G189W|GPR56_uc002ema.1_Missense_Mutation_p.G184W|GPR56_uc002emc.2_Missense_Mutation_p.G359W|GPR56_uc002emf.2_Missense_Mutation_p.G359W|GPR56_uc010vhs.1_Missense_Mutation_p.G359W|GPR56_uc002emd.2_Missense_Mutation_p.G359W|GPR56_uc002eme.2_Missense_Mutation_p.G359W|GPR56_uc010vht.1_Missense_Mutation_p.G364W|GPR56_uc002emg.3_Missense_Mutation_p.G359W|GPR56_uc010vhu.1_Missense_Mutation_p.G184W	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	359	GPS.				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GAGCAGCCCGGGGCATTGGAG	0.577000													7	152					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33877726	33877726	+	Missense_Mutation	SNP	C	C	A	rs151036803	by1000genomes	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:33877726C>A	uc003cfx.3	+	7	1180	c.1025C>A	c.(1024-1026)cCg>cAg	p.P342Q	PDCD6IP_uc003cfy.3_Missense_Mutation_p.P347Q|PDCD6IP_uc011axw.2_Missense_Mutation_p.P123Q	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	342	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						AAATCTACCCCGGTCAATGTA	0.378000													4	107					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276493	18276493	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:18276493G>T	uc001ipo.2	+	6	1455	c.1182G>T	c.(1180-1182)gaG>gaT	p.E394D	SLC39A12_uc001ipn.2_Missense_Mutation_p.E394D|SLC39A12_uc001ipp.2_Missense_Mutation_p.E394D|SLC39A12_uc010qck.1_Missense_Mutation_p.E260D	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	394					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATAGCTGTGAGGAGAACTACA	0.547000													8	122					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108315357	108315357	+	Splice_Site	SNP	G	G	T	rs150482374		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:108315357G>T	uc001dvk.1	-	5	609	c.555_splice	c.e5+1	p.P185_splice	VAV3_uc010ouw.1_Splice_Site_p.P185_splice|VAV3_uc001dvl.1_Splice_Site_p.P9_splice|VAV3_uc010oux.1_Splice_Site_p.P185_splice	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	185					B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding	p.P185P(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAAGTCCTACGGGCTGATGTG	0.348000													4	103					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153557874	153557874	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:153557874G>T	uc004fkg.3	+	12	1813	c.1627G>T	c.(1627-1629)Ggg>Tgg	p.G543W	TKTL1_uc011mzl.2_Missense_Mutation_p.G537W|TKTL1_uc011mzm.2_Missense_Mutation_p.G339W|TKTL1_uc004fkh.3_Missense_Mutation_p.G487W	NM_012253	NP_001139406	P51854	TKTL1_HUMAN	Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.	543					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	p.G543V(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGTGGCATCGGGGAAGCTGT	0.557000													4	91					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38190150	38190150	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:38190150G>T	uc002ohc.2	-	4	1478	c.882C>A	c.(880-882)tcC>tcA	p.S294S	ZNF607_uc002ohb.2_Silent_p.S293S	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCACAAGGTGGGAAAACTGAC	0.428000													6	91					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105440678	105440678	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:105440678C>A	uc001tlc.3	-	14	1884	c.1757_splice	c.e14+1	p.G586_splice	ALDH1L2_uc009zuo.3_Splice_Site_p.G41_splice|ALDH1L2_uc009zup.3_Splice_Site	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	586	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTATCTTACCCGAGTGGCTCT	0.413000													6	204					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229657367	229657367	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:229657367C>A	uc001htp.4	-	10	1965	c.1922G>T	c.(1921-1923)cGg>cTg	p.R641L		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	641	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	p.R641W(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AATCGCAATCCGCTGTTTCTG	0.353000													5	109					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:209113113G>C	uc002vcs.3	-	3	640	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_uc002vct.3_Missense_Mutation_p.R132G|IDH1_uc002vcu.3_Missense_Mutation_p.R132G	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								20	53					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65325189	65325189	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:65325189C>A	uc001oej.3	-	0	511	c.242G>T	c.(241-243)cGg>cTg	p.R81L	LTBP3_uc010roi.2_5'UTR|LTBP3_uc001oei.3_Missense_Mutation_p.R81L|LTBP3_uc010roj.2_Missense_Mutation_p.R67L|LTBP3_uc010rok.1_Intron	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	81	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						ACAACTGTCCCGACACTGGCC	0.692000													4	70					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57857845	57857845	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:57857845C>A	uc001snx.3	+	2	258	c.164C>A	c.(163-165)cCa>cAa	p.P55Q	GLI1_uc009zpp.2_Non-coding_Transcript|GLI1_uc021qzi.1_Intron|GLI1_uc009zpq.3_Intron|GLI1_uc009zpr.1_Intron	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	55					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTTATGGGCCAGCCAGAGAG	0.567000													6	186					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80866543	80866543	+	Silent	SNP	A	A	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:80866543A>T	uc002bfr.3	+	12	1537	c.1371A>T	c.(1369-1371)tcA>tcT	p.S457S	ARNT2_uc010unm.2_Silent_p.S446S|ARNT2_uc002bfs.3_Silent_p.S446S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	457					central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATGGATTGTCATCGTATGACT	0.483000													29	58					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389229	1389229	+	Silent	SNP	C	C	A	rs71299249	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:1389229C>A	uc003gdf.2	+	0	3890	c.930C>A	c.(928-930)ccC>ccA	p.P310P		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	310					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.P310fs*95(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGGAGTGCCCGCCTGCTCAC	0.672000													10	303					0	0	1	0	0
TEX264	51368	broad.mit.edu	37	3	51733489	51733489	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:51733489C>A	uc021wyu.1	+	3	640	c.548C>A	c.(547-549)cCa>cAa	p.P183Q	TEX264_uc021wyt.1_Missense_Mutation_p.P109Q|TEX264_uc010hls.3_Missense_Mutation_p.P183Q|TEX264_uc003dbk.4_Missense_Mutation_p.P183Q|TEX264_uc010hlt.3_Missense_Mutation_p.P3Q|TEX264_uc003dbm.4_Missense_Mutation_p.P183Q	NM_001243726	NP_001230655	Q9Y6I9	TX264_HUMAN	Homo sapiens testis expressed 264 (TEX264), transcript variant 4, mRNA.	183						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TTCATGTGCCCACTGGCACGG	0.557000													7	168					0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54676380	54676380	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:54676380G>T	uc001sfl.3	+	5	711	c.607G>T	c.(607-609)Ggt>Tgt	p.G203C	CBX5_uc001sfk.4_5'Flank|HNRNPA1_uc001sfm.3_Missense_Mutation_p.G203C|HNRNPA1_uc001sfn.3_Splice_Site_p.G203_splice|HNRNPA1_uc001sfo.3_Non-coding_Transcript|HNRNPA1_uc009znj.1_Missense_Mutation_p.G158C	NM_031157	NP_112420	P09651	ROA1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1), transcript variant 2, mRNA.	203	Gly-rich.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGGAAACTTTGGTGGTGGTCG	0.408000													5	59					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28473497	28473497	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:28473497C>A	uc001zbj.3	-	34	5437	c.5331G>T	c.(5329-5331)ctG>ctT	p.L1777L		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1777					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGATGGTCCCCAGGCTCGGTC	0.567000													5	56					0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3198895	3198895	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:3198895C>A	uc002lxi.3	+	5	850	c.696_splice	c.e5+1	p.P232_splice	NCLN_uc002lxh.1_Splice_Site|NCLN_uc002lxj.1_Splice_Site	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	Homo sapiens nicalin (NCLN), mRNA.	232					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGTGGCCCCCGTACGTATGT	0.662000													4	38					0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190327291	190327291	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:190327291C>A	uc002uql.1	+	8	920	c.860C>A	c.(859-861)cCg>cAg	p.P287Q	WDR75_uc002uqm.1_Missense_Mutation_p.P223Q|WDR75_uc002uqn.1_Missense_Mutation_p.P65Q	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	287						nucleolus		p.P287Q(4)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GAGTTTCTCCCGCGTTTAGGA	0.428000													5	181					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67569230	67569230	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:67569230C>A	uc003jva.3	+	2	927	c.347C>A	c.(346-348)cCg>cAg	p.P116Q		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	116	Rho-GAP.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(2)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTGACTCTCCCGGATCTTGCA	0.428000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			10	364					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815566	56815566	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:56815566C>A	uc001slf.2	-	21	2838	c.2670G>T	c.(2668-2670)acG>acT	p.T890T		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	890					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.T890T(2)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCTGATCCCCCGTCCACAGTA	0.522000													9	192					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71334988	71334988	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:71334988G>A	uc010dfm.3	-	44	6257	c.6257C>T	c.(6256-6258)tCg>tTg	p.S2086L	SDK2_uc002jjt.4_Missense_Mutation_p.S1226L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	2086					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCGCCGCCACGAGTTGTAGTA	0.592000													14	40					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204378927	204378927	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:204378927C>A	uc001hav.4	-	0	2018	c.1613G>T	c.(1612-1614)gGg>gTg	p.G538V		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA.	538					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			ATCTTCCTCCCCAGAACTATG	0.458000													6	56					0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1748959	1748959	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:1748959G>T	uc009zdq.3	+	3	680	c.438G>T	c.(436-438)acG>acT	p.T146T	WNT5B_uc001qjj.3_Silent_p.T146T|WNT5B_uc001qjk.3_Silent_p.T146T|WNT5B_uc001qjl.3_Silent_p.T146T	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	146					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GCAGCCGGACGGCGCGGCCCA	0.726000													4	38					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	22078761	22078761	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:22078761G>T	uc010iuc.2	-	1	483	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	CDH12_uc011cno.1_Missense_Mutation_p.L9M|CDH12_uc003jgk.2_Missense_Mutation_p.L9M	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	9					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L9M(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CAGAGAAGCAGGGATAAACAG	0.438000										HNSCC(59;0.17)			7	176					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93967852	93967852	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:93967852G>T	uc003poe.3	-	10	2316	c.2075C>A	c.(2074-2076)cCg>cAg	p.P692Q	EPHA7_uc003pof.3_Missense_Mutation_p.P687Q|EPHA7_uc011eac.2_Missense_Mutation_p.P688Q	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	692	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GACAACATTCGGGTGGTCAAA	0.368000													5	86					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187540873	187540873	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:187540873C>A	uc003izf.3	-	9	7055	c.6867G>T	c.(6865-6867)gcG>gcT	p.A2289A		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2289	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.A2289A(2)|p.A2289T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACAGGGTCACCGCATAAGACT	0.458000										HNSCC(5;0.00058)			5	116					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31118575	31118575	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:31118575C>A	uc003nsp.4	-	5	1217	c.1028G>T	c.(1027-1029)gGg>gTg	p.G343V	CCHCR1_uc011dne.2_Missense_Mutation_p.G254V|CCHCR1_uc003nsq.4_Missense_Mutation_p.G307V|CCHCR1_uc003nsr.4_Missense_Mutation_p.G254V|CCHCR1_uc010jsk.1_Missense_Mutation_p.G254V	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	254					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CACTTGTTCCCCAACATATTT	0.537000													10	345					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137623417	137623417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:137623417G>T	uc004cfe.3	+	7	1622	c.1240G>T	c.(1240-1242)Gag>Tag	p.E414*		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	414	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAACCTTGACGAGAActacta	0.622000													6	137					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016578	1016578	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:1016578G>T	uc001lsw.2	-	30	6274	c.6223C>A	c.(6223-6225)Cac>Aac	p.H2075N		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	2075	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AATGAGCTGTGGGTTTGGCTG	0.572000													9	294					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75230236	75230236	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:75230236C>A	uc001xqj.4	+	0	168	c.44C>A	c.(43-45)cCg>cAg	p.P15Q		NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	15	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGCCACTATCCGCCGCCACCG	0.701000													3	21					0	0	1	0	0
AES	166	broad.mit.edu	37	19	3055700	3055700	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:3055700C>A	uc002lxb.1	-	4	499	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	AES_uc002lwx.1_3'UTR|AES_uc002lwy.1_Missense_Mutation_p.G87W|AES_uc002lwz.1_Missense_Mutation_p.G87W	NM_198969	NP_945320	Q08117	AES_HUMAN	Homo sapiens amino-terminal enhancer of split (AES), transcript variant 1, mRNA.	87	Gly/Pro-rich (GP domain).				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAAATCCCGTTCAGCCTT	0.652000													4	79					0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104377122	104377122	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:104377122G>T	uc001kvy.2	+	9	1424	c.1233G>T	c.(1231-1233)acG>acT	p.T411T	SUFU_uc001kvw.2_Silent_p.T411T|SUFU_uc001kvx.3_Silent_p.T411T|SUFU_uc009xxe.2_Intron|SUFU_uc009xxf.2_Non-coding_Transcript	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	411					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	p.T411M(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TTGTCTCCACGGGAGTGGAAG	0.532000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				4	108					0	0	1	0	0
C19orf12	83636	broad.mit.edu	37	19	30193644	30193644	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:30193644C>A	uc002nsj.3	-	2	561	c.434G>T	c.(433-435)cGg>cTg	p.R145L	C19orf12_uc002nsk.3_Missense_Mutation_p.R134L|C19orf12_uc002nsl.3_3'UTR|C19orf12_uc002nsm.3_Non-coding_Transcript	NM_001031726	NP_113636	Q9NSK7	CS012_HUMAN	Homo sapiens chromosome 19 open reading frame 12 (C19orf12), transcript variant 1, mRNA.	134						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GATCTCGGCCCGCAGCTCCTT	0.632000													4	59					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127975	152127975	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:152127975G>T	uc001ezs.1	-	2	1665	c.1600C>A	c.(1600-1602)Cac>Aac	p.H534N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	534	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACTGTAGTGGGAACTCTGG	0.537000													17	848					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51243741	51243741	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:51243741G>T	uc001wyi.3	-	6	783	c.592C>A	c.(592-594)Cgt>Agt	p.R198S	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.R198S|NIN_uc001wyk.3_Missense_Mutation_p.R198S|NIN_uc001wyo.3_Missense_Mutation_p.R198S|NIN_uc001wyp.1_Missense_Mutation_p.R160S	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	198	EF-hand 3.				centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGACCATCACGGGTGATCCCC	0.478000			T	PDGFRB	MPD								6	102					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8502428	8502428	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:8502428G>T	uc004csf.3	-	12	2066	c.1916C>A	c.(1915-1917)cCa>cAa	p.P639Q		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	639	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CTCCCCTCCTGGGGTCAGCAC	0.562000													4	20					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613502	14613502	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:14613502G>T	uc001rbw.3	+	8	2390	c.2232G>T	c.(2230-2232)tcG>tcT	p.S744S	ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.3_Silent_p.S744S|ATF7IP_uc001rbv.1_Silent_p.S743S|ATF7IP_uc001rbx.3_Silent_p.S743S|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.4_Silent_p.S744S|ATF7IP_uc001rca.3_Silent_p.S744S	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	744	Interaction with SETDB1.				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	p.S744S(2)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CAGTGACTTCGGGTTCCCTCA	0.463000													5	100					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2195846	2195846	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:2195846C>A	uc002fub.1	-	6	2392	c.2337_splice	c.e6+1	p.T779_splice	SMG6_uc002fud.2_Splice_Site_p.T748_splice	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	779					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GATTTCTTACCGTATACACTG	0.443000													7	223					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:53856761T>C	uc010ydv.1	+	3	2950	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_uc010ydw.1_Missense_Mutation_p.C945R	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C945R(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348000													3	29					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55525775	55525775	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:55525775C>A	uc002ehz.4	+	7	1554	c.1243C>A	c.(1243-1245)Caa>Aaa	p.Q415K	MMP2_uc010vhd.2_Missense_Mutation_p.Q339K|MMP2_uc010ccc.3_Missense_Mutation_p.Q365K	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	415	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GGAGCACTCCCAAGACCCTGG	0.582000													5	90					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782166	62782166	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:62782166G>T	uc009yon.3	-	1	386	c.265C>A	c.(265-267)Cag>Aag	p.Q89K	SLC22A8_uc009yom.3_Intron|SLC22A8_uc001nwo.3_Missense_Mutation_p.Q89K|SLC22A8_uc010rmm.2_5'UTR|SLC22A8_uc001nwp.2_Missense_Mutation_p.Q89K	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	89					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						ATGGCCCTCTGGGTGTCATTG	0.597000													7	195					0	0	1	0	0
ANXA2R	389289	broad.mit.edu	37	5	43039953	43039953	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:43039953C>A	uc003jnf.3	-	0	495	c.196G>T	c.(196-198)Gga>Tga	p.G66*	LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN	Homo sapiens chromosome 5 open reading frame 39 (C5orf39), mRNA.	66							receptor activity										CAGTAGACTCCGGGCAGCCGC	0.572000											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	77					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514236	47514236	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:47514236G>T	uc001cqt.3	+	10	1458	c.1208_splice	c.e10-1	p.G403_splice	CYP4X1_uc001cqr.3_Splice_Site_p.G402_splice|CYP4X1_uc001cqs.3_Splice_Site_p.G338_splice	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	403						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCCTTTCTTAGGGATCACCGT	0.428000													8	334					0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6648255	6648255	+	Splice_Site	SNP	A	A	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:6648255A>T	uc009vmc.2	+	8	1639	c.1516_splice	c.e8+1	p.A506_splice	ZBTB48_uc001anx.3_Splice_Site_p.A506_splice|ZBTB48_uc009vmd.2_Splice_Site_p.A506_splice|ZBTB48_uc001any.2_Splice_Site_p.A144_splice	NM_005341	NP_005332	P10074	ZBT48_HUMAN	Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), mRNA.	506						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TCCGAACCCAAGGTGAGGTAC	0.622000													19	34					0	0	1	0	0
RHOH	399	broad.mit.edu	37	4	40245368	40245368	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:40245368G>T	uc003guz.2	+	2	1086	c.362G>T	c.(361-363)cGg>cTg	p.R121L	RHOH_uc021xnp.1_Missense_Mutation_p.R121L	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	121					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						ACTGACCAGCGGGAGATGGGG	0.567000													5	75					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217138	51217138	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:51217138C>A	uc002psx.1	-	4	728	c.709G>T	c.(709-711)Ggg>Tgg	p.G237W		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	237					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATGTGGGCCCCGCCCAGGCAC	0.647000													4	59					0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4829717	4829717	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:4829717C>A	uc002cxq.3	-	7	1061	c.797G>T	c.(796-798)cGg>cTg	p.R266L	SEPT12_uc002cxr.3_Missense_Mutation_p.R220L|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	266					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	p.R266Q(2)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTTGGTCTTCCGGCCCAGGAC	0.602000													5	135					0	0	1	0	0
OTUB2	78990	broad.mit.edu	37	14	94505329	94505329	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:94505329C>A	uc001yci.3	+	2	280	c.120C>A	c.(118-120)acC>acA	p.T40T	OTUB2_uc001ych.3_Silent_p.T40T	NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN	Homo sapiens OTU domain, ubiquitin aldehyde binding 2 (OTUB2), mRNA.	40	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		AAAGGTTCACCGCCATCCGCA	0.562000													5	151					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932875	148932875	+	RNA	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:148932875G>T	uc010pbc.1	+	1		c.190G>T			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		GGTGGGAGACGGGTGAGGTAC	0.632000													6	155					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73850157	73850157	+	Missense_Mutation	SNP	C	C	A	rs138896608	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:73850157C>A	uc003xzb.3	+	2	3155	c.2567C>A	c.(2566-2568)cCg>cAg	p.P856Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	856					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCTTCCTCCCCGCAGGACACA	0.498000													5	92					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40899958	40899958	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:40899958C>A	uc002onr.3	-	6	4570	c.4301G>T	c.(4300-4302)cGg>cTg	p.R1434L	PRX_uc002onq.3_Missense_Mutation_p.R1295L|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1434					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCCGCACCCGCAATCCACC	0.662000													5	67					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55974046	55974046	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:55974046C>A	uc003has.3	-	9	1572	c.1270G>T	c.(1270-1272)Ggt>Tgt	p.G424C	KDR_uc003hat.1_Missense_Mutation_p.G424C|KDR_uc011bzx.2_Missense_Mutation_p.G424C	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	424	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GATTTCTCACCAATCTGGGGT	0.453000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	88					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124747172	124747172	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:124747172C>A	uc001qbc.3	+	18	2982	c.2813C>A	c.(2812-2814)cCg>cAg	p.P938Q	ROBO3_uc010saq.2_5'UTR|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.2_Intron|ROBO3_uc001qbe.3_Intron|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	938					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GTGTCCTTCCCGCACTCAGAG	0.617000													6	120					0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44054219	44054219	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:44054219C>A	uc002xoh.2	+	11	1580	c.1490C>A	c.(1489-1491)cCa>cAa	p.P497Q	PIGT_uc010zwz.2_Missense_Mutation_p.P235Q|PIGT_uc010zww.2_Missense_Mutation_p.P441Q|PIGT_uc010zwy.2_Missense_Mutation_p.P395Q|PIGT_uc002xoj.2_Missense_Mutation_p.P430Q|PIGT_uc010zwu.2_Missense_Mutation_p.P235Q|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Missense_Mutation_p.P235Q|PIGT_uc010zwx.2_Missense_Mutation_p.P332Q|PIGT_uc010zxa.2_Missense_Mutation_p.P335Q|PIGT_uc002xol.1_Missense_Mutation_p.P286Q|PIGT_uc010zxb.1_Missense_Mutation_p.P173Q	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	497					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCCAGGTTCCCAGTCTCTGAT	0.587000													4	34					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55780139	55780139	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:55780139C>A	uc010qhy.1	-	20	2974	c.2579G>T	c.(2578-2580)cGg>cTg	p.R860L	PCDH15_uc010qhq.2_Missense_Mutation_p.R860L|PCDH15_uc010qhr.2_Missense_Mutation_p.R855L|PCDH15_uc021pqv.1_Missense_Mutation_p.R855L|PCDH15_uc021pqw.1_Missense_Mutation_p.R867L|PCDH15_uc010qht.2_Missense_Mutation_p.R862L|PCDH15_uc021pqx.1_Missense_Mutation_p.R855L|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R855L|PCDH15_uc021pqz.1_Missense_Mutation_p.R833L|PCDH15_uc010qhv.1_Missense_Mutation_p.R855L|PCDH15_uc010qhw.1_Missense_Mutation_p.R818L|PCDH15_uc010qhx.1_Missense_Mutation_p.R784L|PCDH15_uc010qhz.1_Missense_Mutation_p.R855L|PCDH15_uc010qia.1_Missense_Mutation_p.R833L|PCDH15_uc001jju.1_Missense_Mutation_p.R855L|PCDH15_uc010qib.1_Missense_Mutation_p.R833L|PCDH15_uc001jjw.3_Missense_Mutation_p.R855L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	855	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R855Q(1)|p.R860Q(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTTCTTATCCGGTAAGACAC	0.388000										HNSCC(58;0.16)			5	195					0	0	1	0	0
C12orf23	90488	broad.mit.edu	37	12	107365136	107365136	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:107365136C>A	uc001tmb.3	+	3	692	c.318C>A	c.(316-318)ccC>ccA	p.P106P	C12orf23_uc001tmc.3_Silent_p.P106P|C12orf23_uc001tmd.3_Silent_p.P106P	NM_152261	NP_689474	Q8WUH6	CL023_HUMAN	Homo sapiens chromosome 12 open reading frame 23 (C12orf23), mRNA.	106						integral to membrane				endometrium(1)|lung(2)	3						ACAAAGTGCCCTTAACAGGAA	0.463000													5	76					0	0	1	0	0
CASP7	840	broad.mit.edu	37	10	115489132	115489132	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:115489132C>A	uc001lan.3	+	6	919	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	CASP7_uc001lam.3_Silent_p.S237S|CASP7_uc001lao.3_Missense_Mutation_p.L282M|CASP7_uc001lap.3_Missense_Mutation_p.L249M|CASP7_uc001laq.3_Missense_Mutation_p.L249M|CASP7_uc010qsa.2_Missense_Mutation_p.L334M|CASP7_uc010qsb.2_Missense_Mutation_p.L224M	NM_033339	NP_203125	P55210	CASP7_HUMAN	Homo sapiens caspase 7, apoptosis-related cysteine peptidase (CASP7), transcript variant gamma, mRNA.	249					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		CTGCTCCATCCTGGAGGAGCA	0.517000													55	128					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926458	157926458	+	Silent	SNP	C	C	A	rs145928904		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:157926458C>A	uc003wno.3	-	8	1588	c.1467G>T	c.(1465-1467)gcG>gcT	p.A489A	PTPRN2_uc003wnp.3_Silent_p.A472A|PTPRN2_uc003wnq.3_Silent_p.A489A|PTPRN2_uc003wnr.3_Silent_p.A451A|PTPRN2_uc011kwa.2_Silent_p.A512A	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	489						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCTGAGCACCCGCTGGAAGGC	0.657000													4	71					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26910636	26910636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:26910636G>A	uc002hbq.3	-	14	2670	c.2578C>T	c.(2578-2580)Cag>Tag	p.Q860*	SPAG5_uc010waq.1_Nonsense_Mutation_p.Q265*	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	860					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTTGCTCCTGGTTATCTGCT	0.468000													4	107					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102271682	102271682	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:102271682G>T	uc001duf.2	-	4	780	c.709C>A	c.(709-711)Cga>Aga	p.R237R	OLFM3_uc001dug.2_Silent_p.R217R|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Silent_p.R142R|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	237	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GCACCAAATCGGGTTCCAGAT	0.423000													5	103					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554402	85554402	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:85554402G>T	uc021vjw.1	-	1	787	c.453C>A	c.(451-453)ccC>ccA	p.P151P	TGOLN2_uc002spb.3_Silent_p.P151P|TGOLN2_uc002soz.3_Silent_p.P151P|TGOLN2_uc021vjx.1_Silent_p.P151P|TGOLN2_uc002spa.3_Intron|TGOLN2_uc002spc.2_Silent_p.P151P	NM_001206840	NP_001193769	O43493	TGON2_HUMAN	Homo sapiens trans-golgi network protein 2 (TGOLN2), transcript variant 2, mRNA.	151	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CCGACCTGTTGGGGCTGTCTT	0.572000													13	570					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36581366	36581366	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:36581366G>T	uc002odd.2	+	15	2069	c.1978G>T	c.(1978-1980)Ggg>Tgg	p.G660W	WDR62_uc002odc.2_Missense_Mutation_p.G660W	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	660					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACTGTGAACGGGAAGCAGAA	0.607000													5	80					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62142882	62142882	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:62142882C>A	uc003dlb.3	+	6	1543	c.824C>A	c.(823-825)cCc>cAc	p.P275H	PTPRG_uc003dlc.3_Missense_Mutation_p.P275H	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	275	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGACCCGTCCCCATCTCTTAC	0.483000													5	77					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10295964	10295964	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:10295964C>A	uc002gmm.2	-	38	5559	c.5464_splice	c.e38-1	p.V1822_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1822					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTCACGTACCTGCAGCCAAG	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	168					0	0	1	0	0
NSA2	10412	broad.mit.edu	37	5	74066519	74066519	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:74066519A>C	uc003kdk.1	+	3	489	c.406A>C	c.(406-408)Att>Ctt	p.I136L		NM_014886	NP_055701	O95478	NSA2_HUMAN	Homo sapiens NSA2 ribosome biogenesis homolog (S. cerevisiae) (NSA2), mRNA.	136	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex		p.V135V(1)		breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ATTAAAAGTTATTCGAACAGG	0.368000													22	59					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73169752	73169752	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:73169752C>A	uc003hgk.2	-	16	2343	c.2306G>T	c.(2305-2307)gGg>gTg	p.G769V	ADAMTS3_uc003hgl.3_Missense_Mutation_p.G110V	NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	769	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGCTTCCTCCCCTTTGCCATT	0.388000													8	235					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65298930	65298930	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:65298930C>A	uc002sdl.4	+	2	914	c.700C>A	c.(700-702)Cag>Aag	p.Q234K	CEP68_uc002sdj.2_Missense_Mutation_p.Q234K|CEP68_uc010yqb.1_Missense_Mutation_p.Q234K|CEP68_uc002sdk.4_Missense_Mutation_p.Q234K|CEP68_uc010yqc.2_Missense_Mutation_p.Q234K|CEP68_uc010yqd.1_Missense_Mutation_p.Q234K	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	234					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTCGTCCCCCAGGAACCTTC	0.652000													8	107					0	0	1	0	0
TIMM44	10469	broad.mit.edu	37	19	7999959	7999959	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:7999959G>T	uc002miz.3	-	3	556	c.384C>A	c.(382-384)acC>acA	p.T128T	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	128					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CCTCCTTCACGGTGCCCGTCA	0.612000													3	11					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7852762	7852762	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:7852762C>A	uc002gjp.3	+	19	3662	c.2712C>A	c.(2710-2712)ccC>ccA	p.P904P	CNTROB_uc002gjq.3_Silent_p.P882P|CNTROB_uc002gjr.3_Silent_p.P785P	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	882					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AAAAACCTCCCGCACGGAAGA	0.587000													4	108					0	0	1	0	0
STK25	10494	broad.mit.edu	37	2	242438544	242438544	+	Missense_Mutation	SNP	C	C	A	rs139865238		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:242438544C>A	uc002wbm.3	-	5	902	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W	STK25_uc002wbl.3_Missense_Mutation_p.G30W|STK25_uc002wbn.3_Missense_Mutation_p.G211W|STK25_uc002wbo.3_Missense_Mutation_p.G134W|STK25_uc010zos.2_Missense_Mutation_p.G117W|STK25_uc010zot.2_Missense_Mutation_p.G137W|STK25_uc002wbp.3_Missense_Mutation_p.G211W|STK25_uc010fzo.3_Missense_Mutation_p.G134W|STK25_uc010zou.2_Missense_Mutation_p.G117W|STK25_uc010zov.2_Missense_Mutation_p.G117W	NM_006374	NP_006365	O00506	STK25_HUMAN	Homo sapiens serine/threonine kinase 25 (STK25), mRNA.	211	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GGAGGCTCCCCCTTGGCCAGC	0.617000													5	55					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51865183	51865183	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:51865183C>A	uc001rys.1	+	13	1949	c.1771C>A	c.(1771-1773)Cgt>Agt	p.R591S	SLC4A8_uc010sni.2_Missense_Mutation_p.R538S|SLC4A8_uc001rym.3_Missense_Mutation_p.R538S|SLC4A8_uc001ryn.3_Missense_Mutation_p.R538S|SLC4A8_uc001ryo.2_Missense_Mutation_p.R538S|SLC4A8_uc010snj.2_Missense_Mutation_p.R618S|SLC4A8_uc001ryq.4_Missense_Mutation_p.R591S|SLC4A8_uc001ryr.3_Missense_Mutation_p.R591S|SLC4A8_uc010snk.2_Missense_Mutation_p.R538S	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	591					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTACATTACCCGTTTCACTGA	0.453000													6	181					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22086799	22086799	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:22086799C>A	uc001rfh.3	-	1	221	c.201G>T	c.(199-201)ccG>ccT	p.P67P	ABCC9_uc001rfi.1_Silent_p.P67P|ABCC9_uc001rfk.3_Silent_p.P67P|ABCC9_uc001rfl.1_Silent_p.P67P	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	67					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGTTATGTCCCGGAAAATGAA	0.408000													6	103					0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233273012	233273012	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:233273012C>A	uc002vss.4	+	5	737	c.684C>A	c.(682-684)ccC>ccA	p.P228P		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	228					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	ACATGTTTCCCATGGGGACCC	0.617000													6	116					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677910	55677910	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:55677910C>A	uc002qjl.1	-	0	109	c.107G>T	c.(106-108)cGg>cTg	p.R36L	DNAAF3_uc002qji.1_5'UTR|DNAAF3_uc002qjj.1_Missense_Mutation_p.R36L|DNAAF3_uc002qjk.1_5'UTR	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	0																	CCAAATATCCCGGGACGCCCC	0.622000											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	201					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046892	73046892	+	RNA	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:73046892G>T	uc004ebn.2	+	0		c.34853G>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CTTAGTCCTCGGGTCTCAAGT	0.473000													4	88					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162313729	162313729	+	Silent	SNP	A	A	G			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:162313729A>G	uc001gbv.2	+	5	945	c.558A>G	c.(556-558)ggA>ggG	p.G186G	NOS1AP_uc010pkr.1_Silent_p.G181G|NOS1AP_uc001gbw.2_Silent_p.G181G|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	186	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding	p.G186E(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGAAGATGGAGAGAGCGAGA	0.587000													3	66					0	0	1	0	0
DMAP1	55929	broad.mit.edu	37	1	44680396	44680396	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:44680396C>A	uc001clq.1	+	3	299	c.219C>A	c.(217-219)ccC>ccA	p.P73P	DMAP1_uc010okq.1_Silent_p.P99P|DMAP1_uc010okr.1_Silent_p.P73P|DMAP1_uc010oks.1_Silent_p.P73P|DMAP1_uc010okt.1_Silent_p.P73P|DMAP1_uc001clr.1_Silent_p.P73P|DMAP1_uc001cls.1_Silent_p.P73P|DMAP1_uc010oku.1_Silent_p.P73P	NM_001034024	NP_061973	Q9NPF5	DMAP1_HUMAN	Homo sapiens DNA methyltransferase 1 associated protein 1 (DMAP1), transcript variant 3, mRNA.	73					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CACTGCTACCCAGTGACACTG	0.567000													5	65					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107144484	107144484	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:107144484C>A	uc001tlt.3	+	16	2015	c.1875C>A	c.(1873-1875)ccC>ccA	p.P625P	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Silent_p.P616P|RFX4_uc001tlv.3_Silent_p.P522P	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	616					transcription, DNA-dependent	nucleus	DNA binding	p.P616P(1)|p.P625P(1)|p.P522P(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATCCTCACCCCATGCAGAGCC	0.507000													7	209					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79252395	79252395	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:79252395G>T	uc010mpk.3	-	13	9026	c.8902C>A	c.(8902-8904)Cca>Aca	p.P2968T	PRUNE2_uc011lsk.2_Missense_Mutation_p.P217T|PRUNE2_uc011lsl.2_Missense_Mutation_p.P232T|PRUNE2_uc011lsm.2_Missense_Mutation_p.P233T|PRUNE2_uc004akj.4_Missense_Mutation_p.P422T|PRUNE2_uc022big.1_Non-coding_Transcript	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2968	CRAL-TRIO.				G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCCTTCTTGGGGTTGCACCA	0.398000													8	214					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58948496	58948496	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:58948496C>A	uc002qst.4	-	1	551	c.150G>T	c.(148-150)gaG>gaT	p.E50D		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	50	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCTCCCACTCCTCTTGGGAGA	0.512000													5	54					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48612668	48612668	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:48612668C>A	uc003ctz.2	-	73	6189	c.6188G>T	c.(6187-6189)cGg>cTg	p.R2063L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2063	Triple-helical region.		R -> W (in HS-DEB; also in a mild form).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.R2063Q(2)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTCTCTCCCCGTTCTCCCTG	0.632000													6	149					0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137815150	137815150	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:137815150C>A	uc003qhp.1	-	0	382	c.158G>T	c.(157-159)gGg>gTg	p.G53V		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GAGGCTTTCCCCGGGCATCTT	0.617000													7	139					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781872	128781872	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:128781872G>T	uc001qet.3	+	1	1018	c.704G>T	c.(703-705)cGg>cTg	p.R235L	KCNJ5_uc009zck.3_Missense_Mutation_p.R235L|KCNJ5_uc001qew.3_Missense_Mutation_p.R235L	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	235					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GCCTCCATCCGGGCCAAGCTC	0.607000													4	114					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103474007	103474007	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:103474007C>A	uc022ajr.1	-	2	610	c.450G>T	c.(448-450)gcG>gcT	p.A150A	RELN_uc022ajq.1_Silent_p.A150A|RELN_uc010liz.3_Silent_p.A150A	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	150	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCCTGTGCCCGCAGGTGGAG	0.473000													4	88					0	0	1	0	0
DNAJC18	202052	broad.mit.edu	37	5	138755831	138755831	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:138755831C>A	uc003len.3	-	6	943	c.863G>T	c.(862-864)aGa>aTa	p.R288I	DNAJC18_uc010jff.3_Missense_Mutation_p.R226I	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	288					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAAGCTCCTCTGTAGGCCTT	0.413000													6	103					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158580768	158580768	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:158580768C>A	uc003woc.1	-	5	529	c.290G>T	c.(289-291)cGg>cTg	p.R97L	ESYT2_uc003wob.1_Missense_Mutation_p.R273L|ESYT2_uc003wod.1_Missense_Mutation_p.R273L	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA.	301						integral to membrane|plasma membrane		p.R273L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CAGGATCACCCGCATGGTACC	0.388000													5	93					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304236	3304236	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:3304236G>T	uc002cun.1	-	1	872	c.832C>A	c.(832-834)Cgg>Agg	p.R278R	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	278					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGCCTTGCCCGGGGTTCTGTT	0.547000													7	240					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34180232	34180232	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:34180232C>A	uc001bxm.1	-	20	3538	c.3361G>T	c.(3361-3363)Ggg>Tgg	p.G1121W	CSMD2_uc001bxn.1_Missense_Mutation_p.G1081W	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1081	CUB 7.					integral to membrane|plasma membrane	protein binding	p.N1121N(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)				CGTCTGCCCCCCAGGCACGTG	0.612000													8	227					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130840365	130840365	+	Missense_Mutation	SNP	C	C	A	rs145502622		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:130840365C>A	uc003kvn.2	-	10	1414	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L	RAPGEF6_uc003kvp.2_Missense_Mutation_p.R453L|RAPGEF6_uc003kvo.2_Missense_Mutation_p.R403L|RAPGEF6_uc010jdi.2_Missense_Mutation_p.R403L|RAPGEF6_uc010jdj.2_Missense_Mutation_p.R403L|RAPGEF6_uc003kvq.3_Missense_Mutation_p.R120L|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.R403L|RAPGEF6_uc010jdk.3_Missense_Mutation_p.R403L	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	403					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTCTAGTTCCCGATGCTCATG	0.383000													5	113					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130191	45130191	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:45130191C>A	uc002xsa.3	-	3	2318	c.1856G>T	c.(1855-1857)gGg>gTg	p.G619V	ZNF334_uc002xsb.3_Missense_Mutation_p.G558V|ZNF334_uc002xsd.3_Missense_Mutation_p.G558V|ZNF334_uc002xsc.3_Missense_Mutation_p.G596V|ZNF334_uc010ghl.3_Missense_Mutation_p.G595V			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	596					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)				TGGTTTCTCCCCAGTGTGAGT	0.428000													7	124					0	0	1	0	0
OSGEP	55644	broad.mit.edu	37	14	20917411	20917411	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:20917411C>A	uc001vxf.3	-	3	851	c.426G>T	c.(424-426)tcG>tcT	p.S142S		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.	142					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		AACGATGTTCCGAGTATGCAA	0.463000													4	56					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339217	19339217	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:19339217C>A	uc002nlz.3	+	7	2887	c.2788C>A	c.(2788-2790)Cct>Act	p.P930T	NCAN_uc010ecc.1_Missense_Mutation_p.P494T	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	930					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGCTGTTCCTCCTGGGACACC	0.637000													7	146					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1137183	1137183	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:1137183G>T	uc001qjb.2	+	1	355	c.114G>T	c.(112-114)acG>acT	p.T38T	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Silent_p.T38T|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Silent_p.T38T	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	38					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CCAACAGTACGGGAGGGAGTT	0.572000													6	91					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23191772	23191772	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:23191772C>A	uc003svs.4	+	6	1173	c.880C>A	c.(880-882)Cgc>Agc	p.R294S	KLHL7_uc003svr.4_Missense_Mutation_p.R272S|KLHL7_uc011jys.2_Missense_Mutation_p.R218S|KLHL7_uc011jyt.2_Missense_Mutation_p.R69S|KLHL7_uc003svt.3_Missense_Mutation_p.R246S|KLHL7_uc011jyv.2_Missense_Mutation_p.R69S	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	294						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACATGACTACCGCATAGCCCT	0.393000													4	75					0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45389443	45389443	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:45389443C>A	uc002ozw.1	+	7	1704	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	438					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCAAGACCCCCTACTTTGATG	0.647000													5	68					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140774159	140774159	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:140774159G>T	uc003lkd.2	+	0	2677	c.1779G>T	c.(1777-1779)gcG>gcT	p.A593A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.A593A|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	594	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGTGGCGGTGGACAGAG	0.692000													5	109					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4798847	4798847	+	Splice_Site	SNP	C	C	A	rs143714848		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:4798847C>A	uc003snc.1	+	6	1421	c.1411_splice	c.e6+1	p.G471_splice	FOXK1_uc003sna.1_Splice_Site_p.G308_splice	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	471					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AAAGCGCACCCGGTAAGGAGC	0.692000													4	94					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27474868	27474868	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:27474868C>A	uc002dov.2	-	34	5958	c.5918G>T	c.(5917-5919)cGg>cTg	p.R1973L	GTF3C1_uc002dou.3_Missense_Mutation_p.R1948L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1973						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCACCTTTCCCGTGCTGCCTG	0.582000													6	189					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44050812	44050812	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:44050812G>T	uc002owt.2	-	11	1481	c.1361C>A	c.(1360-1362)cCt>cAt	p.P454H	XRCC1_uc010xwp.1_Missense_Mutation_p.P423H	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	454					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GGTCTCTTCAGGGGTTGGGGG	0.612000								Other BER factors					7	199					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68713813	68713813	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:68713813T>C	uc002ewf.2	+	6	1935	c.803T>C	c.(802-804)cTc>cCc	p.L268P	CDH3_uc010vli.1_Missense_Mutation_p.L213P	NM_001793	NP_001784	P22223	CADH3_HUMAN	Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA.	268	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCACACGACCTCATGTTCACC	0.552000													4	98					0	0	1	0	0
HS2ST1	9653	broad.mit.edu	37	1	87563588	87563588	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:87563588C>A	uc010osk.2	+	4	1041	c.656C>A	c.(655-657)cCg>cAg	p.P219Q	HS2ST1_uc001dmc.4_Missense_Mutation_p.P219Q|HS2ST1_uc001dme.2_Missense_Mutation_p.P180Q	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	Homo sapiens heparan sulfate 2-O-sulfotransferase 1 (HS2ST1), transcript variant 1, mRNA.	219						Golgi membrane|integral to membrane		p.P219L(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CTTCAAATCCCGTTCTTCTGT	0.453000													4	96					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039790	31039790	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:31039790G>T	uc002nsu.1	+	3	3402	c.3264G>T	c.(3262-3264)ctG>ctT	p.L1088L	ZNF536_uc010edd.1_Silent_p.L1088L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1088					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGAGACTCTGGGAGAGCAGA	0.517000													5	67					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844538	215844538	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:215844538G>T	uc001hku.1	-	63	14296	c.13909C>A	c.(13909-13911)Cct>Act	p.P4637T		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4637	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATGTGGAGGGGGTTGCATC	0.478000										HNSCC(13;0.011)			6	108					0	0	1	0	0
GTF2A1	2957	broad.mit.edu	37	14	81658967	81658967	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:81658967C>A	uc001xvf.1	-	6	1261	c.829G>T	c.(829-831)Ggg>Tgg	p.G277W	GTF2A1_uc010atb.1_Missense_Mutation_p.G227W|GTF2A1_uc001xvg.1_Missense_Mutation_p.G238W	NM_015859	NP_963889	P52655	TF2AA_HUMAN	Homo sapiens general transcription factor IIA, 1, 19/37kDa (GTF2A1), transcript variant 1, mRNA.	277					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|TBP-class protein binding|protein binding|protein heterodimerization activity|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		GATGTATCCCCAGTTCCATCA	0.483000													8	130					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260212	44260212	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:44260212C>A	uc010xcy.1	-	7	1600	c.1032G>T	c.(1030-1032)gcG>gcT	p.A344A	ST8SIA5_uc002lci.1_Silent_p.A155A|ST8SIA5_uc002lcj.1_Silent_p.A308A|ST8SIA5_uc010xcz.1_Silent_p.A277A	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	308					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GCTCCAGCGCCGCAGTGACCA	0.607000													4	100					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887349	25887349	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:25887349C>A	uc001isj.3	+	10	2854	c.2794C>A	c.(2794-2796)Cag>Aag	p.Q932K	GPR158_uc001isk.3_Missense_Mutation_p.Q307K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	932						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CACTAAATCCCAGAAACCTTT	0.443000													7	214					0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	24993555	24993555	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:24993555C>A	uc002wub.3	-	10	1680	c.1600G>T	c.(1600-1602)Ggg>Tgg	p.G534W	ACSS1_uc002wuc.3_Missense_Mutation_p.G532W|ACSS1_uc021wbm.1_Missense_Mutation_p.G534W|ACSS1_uc010gdc.3_Missense_Mutation_p.G329W|ACSS1_uc002wua.3_Missense_Mutation_p.G451W|ACSS1_uc021wbl.1_Missense_Mutation_p.G413W|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	534					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGGTAAGCCCCGTCTCCAGTG	0.567000													5	95					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553625	19553625	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:19553625C>A	uc001vuz.1	+	0	261	c.209C>A	c.(208-210)cCc>cAc	p.P70H	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	70										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACTGCTTCCCCTGGTGCAGG	0.592000													17	800					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200613506	200613506	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:200613506G>T	uc009wzk.3	-	7	1979	c.1736C>A	c.(1735-1737)cCa>cAa	p.P579Q	DDX59_uc010ppl.1_Intron	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	579	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATGAAGGTATGGGGAATTTAA	0.358000													7	185					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139175279	139175279	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:139175279C>A	uc003qif.2	+	9	1511	c.1186C>A	c.(1186-1188)Ctt>Att	p.L396I	ECT2L_uc021zfx.1_Missense_Mutation_p.L396I|ECT2L_uc011edq.1_Missense_Mutation_p.L327I	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	396					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.L396I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CTTCGTGCCCCTTGGAGCATC	0.468000			"""N, Splice, Mis"""		ETP ALL								9	308					0	0	1	0	0
C10orf91	170393	broad.mit.edu	37	10	134261403	134261403	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:134261403C>A	uc001llm.3	+	2	316	c.276C>A	c.(274-276)tcC>tcA	p.S92S		NM_173541	NP_775812	Q5T1B1	CJ091_HUMAN	Homo sapiens chromosome 10 open reading frame 91 (C10orf91), mRNA.	92										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		CCCCTGCCTCCGGGCGCCCGC	0.667000													6	220					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103414	52103414	+	Nonsense_Mutation	SNP	G	G	T	rs141885016		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:52103414G>T	uc001jje.3	-	6	1415	c.461C>A	c.(460-462)tCg>tAg	p.S154*	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Nonsense_Mutation_p.S154*|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Nonsense_Mutation_p.S154*|SGMS1_uc021pqo.1_Nonsense_Mutation_p.S154*|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	160					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GTGGACGACCGAGATCATCAC	0.507000													4	64					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594868	55594868	+	Silent	SNP	C	C	A	rs150337368		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:55594868C>A	uc001nhy.1	+	0	174	c.174C>A	c.(172-174)ccC>ccA	p.P58P		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58>?(2)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCACACCCCCGTGTACTTTT	0.468000										HNSCC(27;0.073)			8	306					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811275	5811275	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:5811275G>T	uc010ndi.3	-	6	2609	c.2145C>A	c.(2143-2145)acC>acA	p.T715T	NLGN4X_uc004crp.3_Silent_p.T698T|NLGN4X_uc010ndh.3_Silent_p.T678T|NLGN4X_uc004crq.3_Silent_p.T678T|NLGN4X_uc004crr.3_Silent_p.T678T|NLGN4X_uc010ndj.3_Silent_p.T678T	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	678					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.T678T(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGACGGCAATGGTGACACTTA	0.512000													5	77					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14063146	14063146	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:14063146C>A	uc001mle.3	+	2	692	c.424C>A	c.(424-426)Cgg>Agg	p.R142R		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	142	Reelin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GAGGAGGACCCGGATCCAGGT	0.473000													5	166					0	0	1	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48221049	48221049	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:48221049C>A	uc002iqh.4	-	3	1518	c.1515G>T	c.(1513-1515)atG>atT	p.M505I		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA.	511	Interacts with RGS2 (By similarity).|PDZ.				RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CCCCGGCGCCCATGCCGATGA	0.632000													7	113					0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129455528	129455528	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:129455528C>A	uc011maa.2	+	3	674	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	LMX1B_uc004bqi.3_Silent_p.R223R|LMX1B_uc004bqj.3_Silent_p.R223R	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	200					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R223G(1)|p.R200G(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CAAGCGACCCCGGACCATCCT	0.682000									Nail-Patella Syndrome				3	9					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112528336	112528336	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:112528336C>A	uc003pvu.2	-	3	617	c.308G>T	c.(307-309)cGg>cTg	p.R103L	LAMA4_uc003pvv.2_Missense_Mutation_p.R103L|LAMA4_uc003pvt.2_Missense_Mutation_p.R103L	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	103	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGTTGTGTTCCGCTGGCAGTG	0.473000													4	55					0	0	1	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85056021	85056021	+	RNA	SNP	T	T	C	rs1062001		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:85056021T>C	uc002bkm.2	-	5		c.539A>G								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		GTAGCTGCTCTACCTTAGATG	0.502000													4	18					0	0	1	0	0
MRPL16	54948	broad.mit.edu	37	11	59575226	59575226	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:59575226C>A	uc001noh.2	-	2	432	c.218G>T	c.(217-219)cGg>cTg	p.R73L		NM_017840	NP_060310	Q9NX20	RM16_HUMAN	Homo sapiens mitochondrial ribosomal protein L16 (MRPL16), nuclear gene encoding mitochondrial protein, mRNA.	73							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						GGAAGGTCCCCGTATGTCACT	0.413000													9	427					0	0	1	0	0
WRAP73	49856	broad.mit.edu	37	1	3548782	3548782	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:3548782C>A	uc001ako.3	-	9	1151	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	WRAP73_uc001akn.3_Missense_Mutation_p.R348M|WRAP73_uc010nzi.2_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.	348						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CTGACCGTTCCTTGTCGCCAG	0.512000													6	131					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113217947	113217947	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:113217947G>T	uc010mtz.3	-	21	4047	c.3710C>A	c.(3709-3711)cCa>cAa	p.P1237Q	SVEP1_uc010mua.1_Missense_Mutation_p.P1237Q	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1237	EGF-like 2; 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						GCAAGGCAGTGGGCTGCACTC	0.443000													5	35					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55844530	55844530	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:55844530C>A	uc002eim.3	-	10	1322	c.1214G>T	c.(1213-1215)gGa>gTa	p.G405V	CES1_uc002eil.3_Missense_Mutation_p.G406V|CES1_uc002ein.3_Missense_Mutation_p.G404V	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	405					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GTCTGTTCCTCCTAAGTATTT	0.483000													7	171					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40843711	40843711	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:40843711C>A	uc003jmg.3	+	1	816	c.741C>A	c.(739-741)ttC>ttA	p.F247L		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	247	Asp/Glu-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAGAGGACTTCGAGAATTCAG	0.458000													4	68					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166852624	166852624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:166852624C>A	uc002udo.4	-	25	4707	c.4480G>T	c.(4480-4482)Gga>Tga	p.G1494*	SCN1A_uc010fpk.3_Nonsense_Mutation_p.G1466*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.G1483*	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1494						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.K1494K(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTGACCTCCAAAGTATAGA	0.308000													5	91					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45029262	45029262	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:45029262A>G	uc010ejn.1	-	1	84	c.68T>C	c.(67-69)gTa>gCa	p.V23A	CEACAM20_uc010ejo.1_Missense_Mutation_p.V23A|CEACAM20_uc010ejp.1_Missense_Mutation_p.V23A|CEACAM20_uc010ejq.1_Missense_Mutation_p.V23A	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	23						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGGACTCCATACGGTACAAAG	0.587000													35	85					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50334070	50334070	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:50334070C>A	uc002ppw.2	+	8	1090	c.1027C>A	c.(1027-1029)Cag>Aag	p.Q343K	MED25_uc010ybe.2_Missense_Mutation_p.Q130K|MED25_uc002ppx.1_Missense_Mutation_p.Q124K	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	343	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		ACCTGCTTCCCAGCCCAGTCT	0.721000													6	71					0	0	1	0	0
TMEM245	23731	broad.mit.edu	37	9	111849550	111849550	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:111849550C>A	uc004bdt.4	-	5	1255	c.1223G>T	c.(1222-1224)tGg>tTg	p.W408L	TMEM245_uc022bln.1_5'UTR|TMEM245_uc004bds.4_Non-coding_Transcript	NM_032012	NP_114401	Q9H330	CI005_HUMAN	Homo sapiens chromosome 9 open reading frame 5 (C9orf5), mRNA.	408						integral to membrane											TATAATGCCCCACCACACATG	0.423000													6	103					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17772190	17772190	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:17772190C>A	uc003ncg.4	-	36	4585	c.4425G>T	c.(4423-4425)gaG>gaT	p.E1475D	KIF13A_uc003ncf.3_Missense_Mutation_p.E1462D|KIF13A_uc003nch.4_Missense_Mutation_p.E1475D|KIF13A_uc003nci.4_Missense_Mutation_p.E1462D|KIF13A_uc003nce.2_Missense_Mutation_p.E61D	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1475					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)			TCTTATGCTCCTCTTTTACAG	0.458000													8	297					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677025	37677025	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:37677025C>A	uc002ofq.3	-	4	1666	c.1414G>T	c.(1414-1416)Ggg>Tgg	p.G472W	ZNF585B_uc002ofr.1_Missense_Mutation_p.G286W	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGCCTTCCCACATTTATTG	0.393000													7	135					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226273792	226273792	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:226273792C>A	uc002voe.2	+	1	371	c.196C>A	c.(196-198)Cga>Aga	p.R66R	NYAP2_uc010fxa.1_Silent_p.R61R	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	66																	TGAAAAACGCCGAAGACAAGA	0.368000													3	22					0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61650839	61650839	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:61650839G>T	uc002ljv.3	+	4	620	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	SERPINB8_uc002ljt.3_Missense_Mutation_p.G151W|SERPINB8_uc002lju.3_Missense_Mutation_p.G151W|SERPINB8_uc010xex.2_5'UTR	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	151					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				ACTGGATGCTGGGACAGTCGA	0.393000													6	82					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151262651	151262651	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:151262651C>A	uc001exq.3	+	6	3116	c.3018C>A	c.(3016-3018)ccC>ccA	p.P1006P	ZNF687_uc009wmo.3_Silent_p.P1006P|ZNF687_uc009wmp.3_Silent_p.P1006P	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	1006					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCCGCCCCCAGCCTGAGGC	0.602000													6	119					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25074503	25074503	+	Missense_Mutation	SNP	G	G	T	rs61652090	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:25074503G>T	uc001upl.3	-	3	458	c.352C>A	c.(352-354)Cta>Ata	p.L118I	PARP4_uc010tdc.2_Missense_Mutation_p.L118I	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	118					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCCGGGCATAGACCTTCTGTT	0.393000													6	119					0	0	1	0	0
FAM175B	23172	broad.mit.edu	37	10	126490444	126490444	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:126490444C>A	uc001lib.4	+	0	91	c.46C>A	c.(46-48)Cac>Aac	p.H16N		NM_032182	NP_115558	Q15018	F175B_HUMAN	Homo sapiens family with sequence similarity 175, member B (FAM175B), mRNA.	16	MPN-like.					BRISC complex	polyubiquitin binding			NS(1)	1						TGTGTGTTTCCACAGCGCCAA	0.677000													6	150					0	0	1	0	0
TRH	7200	broad.mit.edu	37	3	129695776	129695776	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:129695776C>A	uc003enc.3	+	2	1007	c.446C>A	c.(445-447)cCg>cAg	p.P149Q		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	149					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.P149Q(2)|p.V148F(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						TATGCTGTCCCGAAGCGGCAG	0.607000													4	61					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37499693	37499693	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:37499693C>A	uc001caz.2	-	0	152	c.17G>T	c.(16-18)cGg>cTg	p.R6L	GRIK3_uc001cba.1_Missense_Mutation_p.R6L	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	6					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCGGAGGCGCCGCCAGGGAGC	0.751000													3	16					0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27327369	27327369	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:27327369C>A	uc010lur.3	-	2	812	c.203G>T	c.(202-204)cGg>cTg	p.R68L	CHRNA2_uc011lal.2_Missense_Mutation_p.R68L|CHRNA2_uc010lus.3_5'UTR	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	68						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R68Q(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GTTGTAGCCCCGGAAGAGGTG	0.632000													5	107					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130270436	130270436	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:130270436C>A	uc004brh.3	-	11	1680	c.1478G>T	c.(1477-1479)cGg>cTg	p.R493L	FAM129B_uc004bri.3_Missense_Mutation_p.R480L|FAM129B_uc004brj.4_Missense_Mutation_p.R493L	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	493							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CAGCGCCTCCCGGAAGAACCT	0.632000													4	73					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67980429	67980429	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:67980429C>A	uc010vkj.1	-	16	2395	c.2355G>T	c.(2353-2355)ctG>ctT	p.L785L	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Silent_p.L777L|SLC12A4_uc010vkh.1_Silent_p.L752L|SLC12A4_uc002euz.2_Silent_p.L783L|SLC12A4_uc010vki.1_Silent_p.L783L|SLC12A4_uc002eva.2_Silent_p.L783L|SLC12A4_uc010cev.1_Intron	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	783					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCATGCCTCCCAGGCCACAGG	0.627000													5	93					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6228285	6228285	+	Silent	SNP	G	G	T	rs138961166		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:6228285G>T	uc001amb.2	-	1	243	c.132C>A	c.(130-132)ccC>ccA	p.P44P		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	44					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GAAGGCTCACGGGCTCCACAG	0.517000													6	223					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55598181	55598181	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:55598181C>A	uc002qis.4	+	17	1981	c.1877C>A	c.(1876-1878)cCg>cAg	p.P626Q	EPS8L1_uc010yfr.2_Missense_Mutation_p.P562Q|EPS8L1_uc002qiu.3_Missense_Mutation_p.P499Q|EPS8L1_uc002qiv.3_Missense_Mutation_p.P304Q|EPS8L1_uc002qiw.3_Missense_Mutation_p.P405Q	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	626						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCCCGCGCCCCGGAACCGCAG	0.731000													3	14					0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96394809	96394809	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:96394809G>T	uc001ten.1	-	18	1862	c.1794C>A	c.(1792-1794)ccC>ccA	p.P598P	LTA4H_uc010suy.1_Silent_p.P560P|LTA4H_uc010suz.1_3'UTR	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	598					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	p.P598P(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TTGCAGTCACGGGATGCATGC	0.393000													5	132					0	0	1	0	0
LGALSL	29094	broad.mit.edu	37	2	64683534	64683534	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:64683534G>T	uc002scy.4	+	3	663	c.310G>T	c.(310-312)Ggg>Tgg	p.G104W		NM_014181	NP_054900	Q3ZCW2	LEGL_HUMAN	Homo sapiens lectin, galactoside-binding-like (LGALSL), mRNA.	104	Galectin.					intracellular	sugar binding										TTGTATATCTGGGGAGAGGGG	0.527000													8	277					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418034	179418034	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:179418034C>A	uc021vsy.1	-	283	82114	c.81889G>T	c.(81889-81891)Ggc>Tgc	p.G27297C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G20992C|TTN_uc021vta.1_Missense_Mutation_p.G20925C|TTN_uc021vtb.1_Missense_Mutation_p.G20800C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28224							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)			GGAGGTCTGCCTTTAAAGGGA	0.438000													7	235					0	0	1	0	0
ATIC	471	broad.mit.edu	37	2	216213941	216213941	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:216213941C>A	uc002vex.4	+	14	1815	c.1628C>A	c.(1627-1629)cCt>cAt	p.P543H	ATIC_uc010zjo.2_Missense_Mutation_p.P484H|ATIC_uc002vey.4_Missense_Mutation_p.P542H	NM_004044	NP_004035	P31939	PUR9_HUMAN	Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA.	543					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GCCTTCTTCCCTTTCCGAGAT	0.433000			T	ALK	ALCL								6	88					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71206239	71206239	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:71206239C>A	uc002shl.4	+	1	384	c.183C>A	c.(181-183)ccC>ccA	p.P61P	ANKRD53_uc002shk.4_Silent_p.P61P	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN	Homo sapiens ankyrin repeat domain 53 (ANKRD53), transcript variant 1, mRNA.	61										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						AGCCCCTGCCCGACCTCGCAG	0.776000													4	29					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554157	28554157	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:28554157C>A	uc003nlo.3	-	0	956	c.338G>T	c.(337-339)cGg>cTg	p.R113L	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	113	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATTATGCTCCCGCACCCAAGA	0.527000													5	205					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592698	156592698	+	Missense_Mutation	SNP	C	C	A	rs146865558		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:156592698C>A	uc003lwn.3	-	0	582	c.482G>T	c.(481-483)cGg>cTg	p.R161L		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	161						nucleus		p.R161L(2)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGATCTTCCCGTGTGTCAGA	0.498000													5	170					0	0	1	0	0
ARF5	381	broad.mit.edu	37	7	127231036	127231036	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:127231036G>T	uc003vmb.2	+	4	497	c.350G>T	c.(349-351)cGg>cTg	p.R117L	FSCN3_uc003vmc.1_5'Flank|FSCN3_uc011kog.1_5'Flank|FSCN3_uc011koh.1_5'Flank|FSCN3_uc003vmd.2_5'Flank|FSCN3_uc010llc.2_5'Flank	NM_001662	NP_001653	P84085	ARF5_HUMAN	Homo sapiens ADP-ribosylation factor 5 (ARF5), mRNA.	117					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GACGAGCTGCGGGATGCAGTG	0.582000													6	147					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125094647	125094647	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:125094647C>A	uc003yqw.3	+	32	4545	c.4339C>A	c.(4339-4341)Cgc>Agc	p.R1447S	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1447						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTGGAGAACCGCTTCTACAG	0.488000													5	237					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134390831	134390831	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:134390831C>A	uc004cav.3	+	12	1462	c.1260C>A	c.(1258-1260)ccC>ccA	p.P420P	POMT1_uc004cax.3_Silent_p.P398P|POMT1_uc011mcj.2_Silent_p.P176P|POMT1_uc004cau.3_Silent_p.P398P|POMT1_uc004caw.3_Silent_p.P344P|POMT1_uc011mck.2_Silent_p.P281P|POMT1_uc011mcl.2_Silent_p.P246P|POMT1_uc011mcm.2_Silent_p.P368P	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	420	MIR 2.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGCAGCCCCCCTGAGCCCCC	0.502000													6	109					0	0	1	0	0
LEPREL4	10609	broad.mit.edu	37	17	39967833	39967833	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:39967833C>A	uc002hxu.3	-	1	802	c.608G>T	c.(607-609)cGa>cTa	p.R203L	FKBP10_uc002hxv.2_5'Flank|LEPREL4_uc002hxt.3_Missense_Mutation_p.R112L	NM_006455	NP_006446	Q92791	SC65_HUMAN	Homo sapiens leprecan-like 4 (LEPREL4), mRNA.	112					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						GCAGGCGGCTCGCTCCAGGAC	0.761000													3	19					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3670749	3670749	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:3670749C>A	uc001akv.2	+	1	467	c.386C>A	c.(385-387)cCc>cAc	p.P129H		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	129										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGGTCTTCCCCACGCATCCT	0.587000													8	171					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10421013	10421013	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:10421013G>T	uc001aqx.4	+	38	4284	c.4082G>T	c.(4081-4083)tGg>tTg	p.W1361L	KIF1B_uc001aqw.4_Missense_Mutation_p.W1315L|KIF1B_uc001aqy.3_Missense_Mutation_p.W1335L|KIF1B_uc001aqz.3_Missense_Mutation_p.W1361L|KIF1B_uc001ara.3_Missense_Mutation_p.W1321L|KIF1B_uc001arb.3_Missense_Mutation_p.W1347L	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1361					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCTGTGTGGGATAGCTCT	0.483000													6	132					0	0	1	0	0
MCMBP	79892	broad.mit.edu	37	10	121595126	121595126	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:121595126C>T	uc001ler.2	-	13	1937	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	MCMBP_uc001leq.1_Missense_Mutation_p.V372M|MCMBP_uc001les.1_Missense_Mutation_p.V372M	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.	547					DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion	nucleus	chromatin binding	p.V547A(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TTGTTCAGCACGGAAGGCAGC	0.418000													38	72					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158873275	158873275	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:158873275C>A	uc003qrf.3	+	4	2191	c.834C>A	c.(832-834)ccC>ccA	p.P278P	TULP4_uc011efo.2_Silent_p.P278P|TULP4_uc003qrg.3_Silent_p.P278P	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	278					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACTTGTCTCCCACGGTCATCC	0.552000													5	63					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18152152	18152152	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:18152152C>A	uc002gsr.1	-	16	2031	c.1980G>T	c.(1978-1980)cgG>cgT	p.R660R	FLII_uc002gsq.1_Silent_p.R531R|FLII_uc010vxn.1_Silent_p.R629R|FLII_uc010vxo.1_Silent_p.R605R|FLII_uc002gss.1_Silent_p.R659R	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	660	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCTGGGCCCCCCGCCATACGT	0.587000													11	235					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9346733	9346733	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:9346733C>A	uc001qvl.3	-	10	1223	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	PZP_uc009zgl.3_Missense_Mutation_p.Q267H	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						GTGCAAGACCCTGCTCATTGG	0.413000													6	135					0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108906629	108906629	+	Missense_Mutation	SNP	C	C	A	rs148205499	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:108906629C>A	uc004eoi.2	-	13	2021	c.1516G>T	c.(1516-1518)Ggt>Tgt	p.G506C	ACSL4_uc004eoj.2_Missense_Mutation_p.G465C|ACSL4_uc004eok.2_Missense_Mutation_p.G465C|ACSL4_uc010npp.1_Missense_Mutation_p.G506C	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	506					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G505G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	ATTGTATAACCGCCTGGAAAT	0.318000													5	177					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640356	156640356	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:156640356C>A	uc001fpq.3	-	3	3757	c.3624G>T	c.(3622-3624)gaG>gaT	p.E1208D	NES_uc021pbh.1_Missense_Mutation_p.E126D	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1208	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCAGCTTCCTCTGACCCCA	0.647000													6	134					0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99729207	99729207	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:99729207G>T	uc003ppj.4	-	5	1346	c.1063C>A	c.(1063-1065)Cac>Aac	p.H355N	FAXC_uc003ppi.4_Missense_Mutation_p.H75N	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	Homo sapiens chromosome 6 open reading frame 168 (C6orf168), mRNA.	355																	AGCGGGGTGTGGGTTTTGCTG	0.473000													5	74					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1255481	1255481	+	Silent	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:1255481G>A	uc001lta.3	+	19	2483	c.2424G>A	c.(2422-2424)gcG>gcA	p.A808A	MUC5B_uc009yct.2_Silent_p.A808A	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	808	TIL 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGCTCGGCGGGCACCCCTG	0.692000													6	16					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134999499	134999499	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:134999499G>T	uc001llz.1	+	5	648	c.647G>T	c.(646-648)cGg>cTg	p.R216L	KNDC1_uc001lma.1_Missense_Mutation_p.R151L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	216	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGCAGCTGGCGGGAGAGACCT	0.716000													3	18					0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1272273	1272273	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:1272273G>T	uc002ckw.2	-	4	582	c.580C>A	c.(580-582)Cgg>Agg	p.R194R		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	Homo sapiens tryptase gamma 1 (TPSG1), mRNA.	194	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.R194W(2)		liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GGATAGTCCCGGCGGCAGGTC	0.692000													4	70					0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25893474	25893474	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:25893474G>T	uc001uqi.3	+	6	942	c.696G>T	c.(694-696)acG>acT	p.T232T	NUPL1_uc001uqg.1_Silent_p.T232T|NUPL1_uc001uqj.3_Silent_p.T220T	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	Homo sapiens nucleoporin like 1 (NUPL1), transcript variant 1, mRNA.	232	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		p.T232T(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GTGATAAAACGGGAACAAGAC	0.279000													6	207					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56423201	56423201	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:56423201C>A	uc002eiy.3	-	8	1377	c.1172G>T	c.(1171-1173)aGg>aTg	p.R391M	AMFR_uc002eix.3_Intron	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	391					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						ATGTTCTTCCCTGACACGATT	0.458000													6	111					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88904688	88904688	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:88904688C>A	uc001xwq.3	+	11	2143	c.1722C>A	c.(1720-1722)ggC>ggA	p.G574G	SPATA7_uc001xwr.3_Silent_p.G542G|SPATA7_uc001xws.3_Silent_p.G510G|SPATA7_uc001xwt.3_Silent_p.G468G|SPATA7_uc001xwu.3_Silent_p.G89G	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	574					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GTGTCAAAGGCGACAATAATC	0.378000													4	56					0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107391132	107391132	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:107391132C>A	uc001tmi.3	-	9	2384	c.1525G>T	c.(1525-1527)Ggg>Tgg	p.G509W		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	509					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding	p.G509W(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CCTCCATTCCCATTAGGATTA	0.343000													7	221					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56333313	56333313	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:56333313C>A	uc001sij.3	+	9	973	c.709_splice	c.e9+1	p.L237_splice	DGKA_uc009zoc.1_Splice_Site_p.L237_splice|DGKA_uc001sih.1_Splice_Site_p.L125_splice|DGKA_uc001sii.1_Splice_Site_p.L95_splice|DGKA_uc009zod.1_Splice_Site_p.L156_splice|DGKA_uc009zoe.1_Missense_Mutation_p.R237S|DGKA_uc001sik.3_Splice_Site_p.L237_splice|DGKA_uc001sil.3_Splice_Site_p.L237_splice|DGKA_uc001sim.3_Splice_Site_p.L237_splice|DGKA_uc001sin.3_Splice_Site_p.L237_splice|DGKA_uc009zof.3_Splice_Site|DGKA_uc001sio.3_Splice_Site	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	237					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.L237I(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GAGCTGTAACCGTGAGTAATG	0.532000													4	89					0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34958334	34958334	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:34958334G>T	uc002hne.3	+	0	310	c.95G>T	c.(94-96)gGg>gTg	p.G32V	MRM1_uc002hnf.3_5'Flank	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	Homo sapiens mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) (MRM1), nuclear gene encoding mitochondrial protein, mRNA.	32					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CGGCCTGGTGGGGAGGAGCTA	0.677000													6	106					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295012	62295012	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:62295012C>A	uc001ntl.3	-	4	7177	c.6877G>T	c.(6877-6879)Ggg>Tgg	p.G2293W	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2293					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCAGCTTCCCTTCTGGACCT	0.502000													10	301					0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233322371	233322371	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:233322371G>A	uc002vst.4	+	5	822	c.745G>A	c.(745-747)Ggg>Agg	p.G249R	ALPI_uc002vsu.4_Missense_Mutation_p.G160R	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	249					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGGCTGGACGGGAAGAACCT	0.622000													14	40					0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70303597	70303597	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:70303597G>T	uc002eyn.1	-	6	996	c.886C>A	c.(886-888)Cgg>Agg	p.R296R	AARS_uc010vlu.1_Silent_p.R126R	NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	296					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GCCAGCACCCGGTAGGCCATG	0.587000													6	213					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:16946438G>A	uc010ocf.2	-	2		c.460C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTTCCGCCGGGCCAGCAGC	0.672000													8	23					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246784922	246784922	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:246784922C>A	uc001ibp.3	+	2	949	c.571C>A	c.(571-573)Ctt>Att	p.L191I	CNST_uc001ibo.4_Missense_Mutation_p.L191I	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	191					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	p.P190T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGCACTTCCCCTTTGCCTTCA	0.468000													8	169					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145578081	145578081	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:145578081G>T	uc001eoc.1	+	1	135	c.44G>T	c.(43-45)cGg>cTg	p.R15L	PIAS3_uc010oyy.1_Missense_Mutation_p.R6L|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	15	SAP.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGAGTTTCCGGGTGTCTGAG	0.582000													6	139					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32949083	32949083	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:32949083C>A	uc001rlj.4	-	11	2564	c.2449G>T	c.(2449-2451)Ggg>Tgg	p.G817W	PKP2_uc001rlk.4_Missense_Mutation_p.G773W|PKP2_uc010skj.2_Missense_Mutation_p.G770W	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	817					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGATGCCCCCGGTGTTTAGA	0.493000													4	117					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4713047	4713047	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:4713047C>A	uc002fzc.3	+	7	802	c.676C>A	c.(676-678)Cga>Aga	p.R226R	PLD2_uc010vsj.2_Silent_p.R83R|PLD2_uc002fzd.3_Silent_p.R226R	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	226	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CTGCTGTGGCCGAGACCAAGT	0.597000													5	157					0	0	1	0	0
MED10	84246	broad.mit.edu	37	5	6377294	6377294	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:6377294G>T	uc003jdo.3	-	1	234	c.191C>A	c.(190-192)cCg>cAg	p.P64Q		NM_032286	NP_115662	Q9BTT4	MED10_HUMAN	Homo sapiens mediator complex subunit 10 (MED10), mRNA.	64					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						AACTTCTAACGGTACAGTAAT	0.393000													4	25					0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	233195475	233195475	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:233195475C>A	uc010fxz.3	+	15	2275	c.1999C>A	c.(1999-2001)Cgg>Agg	p.R667R	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.	667							RNA binding|exonuclease activity|ribonuclease activity	p.S666F(1)		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)		CATGTGCTCCCGGCCCATGCA	0.597000													6	160					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746737	37746737	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:37746737C>A	uc004aag.1	+	15	4752	c.4708C>A	c.(4708-4710)Cag>Aag	p.Q1570K	FRMPD1_uc004aah.1_Missense_Mutation_p.Q1570K	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	1570						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)		CTGTTTGACCCAGAAGTTCCG	0.622000													6	147					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980749	121980749	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:121980749G>T	uc003eew.4	+	3	1305	c.867G>T	c.(865-867)acG>acT	p.T289T	CASR_uc003eev.4_Silent_p.T289T	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	289					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)	GCAATATCACGGGCAAGATCT	0.567000													5	105					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103564170	103564170	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:103564170C>A	uc003ykt.2	+	0	323	c.215C>A	c.(214-216)cCa>cAa	p.P72Q		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	72	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GATCTCTACCCATGTTGCCTG	0.483000													7	194					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167663439	167663439	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:167663439C>A	uc001gem.3	+	4	561	c.374C>A	c.(373-375)cCc>cAc	p.P125H	RCSD1_uc010pli.2_Missense_Mutation_p.P95H	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	125										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCTTCTACCCCCAGCAGCCCT	0.587000													6	74					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47125481	47125481	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:47125481G>T	uc003cqv.3	-	12	6076	c.5990C>A	c.(5989-5991)cCa>cAa	p.P1997Q	SETD2_uc003cqs.3_Missense_Mutation_p.P1930Q|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1930					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			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)		CAGCTGTTGTGGGAGTAGCTG	0.443000			"""N, F, S, Mis"""		clear cell renal carcinoma								8	237					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27690833	27690833	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:27690833C>A	uc001bny.1	-	3	806	c.557G>T	c.(556-558)cGg>cTg	p.R186L	MAP3K6_uc009vsw.1_Missense_Mutation_p.R178L|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	186					activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACACAGCACCCGACCAGTGGC	0.652000													4	89					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238266526	238266526	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:238266526C>A	uc002vwl.2	-	22	6757	c.6472_splice	c.e22-1	p.G2158_splice	COL6A3_uc002vwo.2_Splice_Site_p.G1952_splice|COL6A3_uc010znj.1_Splice_Site_p.G1551_splice|COL6A3_uc002vwp.1_5'Flank	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2158	Collagen-like 2.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.?(1)		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)		CTGGGTTACCCTGAAAGCAAC	0.527000													7	208					0	0	1	0	0
F2RL3	9002	broad.mit.edu	37	19	17000465	17000465	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:17000465C>A	uc002nfa.3	+	1	366	c.191C>A	c.(190-192)cCg>cAg	p.P64Q		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	64					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTGGAGCTCCCGGACAGCTCA	0.687000													4	67					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140812030	140812030	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:140812030C>A	uc003lkt.2	+	0	1873	c.1704C>A	c.(1702-1704)ccC>ccA	p.P568P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.P568P	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	570					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCCTCCCCACGGACGGTT	0.677000													8	215					0	0	1	0	0
SIRT4	23409	broad.mit.edu	37	12	120750294	120750294	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:120750294G>T	uc001tyc.3	+	2	592	c.533G>T	c.(532-534)cGg>cTg	p.R178L		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	Homo sapiens sirtuin 4 (SIRT4), mRNA.	178	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGACTCCCCGGGGGGTGCTG	0.582000													7	124					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101785643	101785643	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:101785643G>T	uc004azb.1	+	13	1972	c.1766G>T	c.(1765-1767)gGa>gTa	p.G589V		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	589	Nonhelical region 2 (NC2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCCAGGCAGGAGCAGAAGCA	0.547000													25	43					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57920645	57920645	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:57920645C>A	uc001soj.1	+	6	1941	c.1717C>A	c.(1717-1719)Cct>Act	p.P573T	MBD6_uc001sok.1_Missense_Mutation_p.P440T|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	573	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACAACCTCCCCCTGAGCCCCT	0.622000													5	64					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31605033	31605033	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:31605033C>A	uc003nvb.4	+	29	6514	c.6265C>A	c.(6265-6267)Cgt>Agt	p.R2089S	PRRC2A_uc003nvc.4_Missense_Mutation_p.R2089S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	2089	3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTCAATTCCCGTCTCAAGGC	0.557000													5	80					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1879725	1879725	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:1879725G>T	uc003jcz.2	-	3	748	c.629C>A	c.(628-630)cCg>cAg	p.P210Q	IRX4_uc011cmf.1_Missense_Mutation_p.P71Q	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	210					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CTTGTTCCGCGGCGGCCACGT	0.662000													4	55					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134080211	134080211	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:134080211C>A	uc001qhd.1	-	3	1126	c.520G>T	c.(520-522)Ggg>Tgg	p.G174W	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	174					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTATGCCTCCCGGGGTTAGCC	0.418000													4	97					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85605227	85605227	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:85605227C>A	uc003hpd.3	-	62	10003	c.9595G>T	c.(9595-9597)Ggg>Tgg	p.G3199W	WDFY3_uc003hpc.3_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3199						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATAGGGTTCCCATTGATGCTC	0.502000													5	83					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53008033	53008033	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:53008033G>T	uc002pzp.4	+	5	434	c.190_splice	c.e5+1	p.D64_splice		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGAGGCTGTGGGTGAGGAAA	0.483000													7	185					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5733177	5733177	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:5733177C>A	uc003gil.1	+	3	594	c.410C>A	c.(409-411)cCg>cAg	p.P137Q	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	137					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TCCTCCAACCCGTCTCTGCAT	0.547000													5	117					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80399061	80399061	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:80399061C>A	uc002kev.4	+	9	1587	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	HEXDC_uc002kew.3_Missense_Mutation_p.P361H|HEXDC_uc010wvm.2_Non-coding_Transcript	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	0					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGCTCCTTCCCTGGCAGCAAC	0.657000													6	126					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064121	6064121	+	Missense_Mutation	SNP	C	C	A	rs143467433		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:6064121C>A	uc010idb.1	-	9	1964	c.1478G>T	c.(1477-1479)cGg>cTg	p.R493L	JAKMIP1_uc010idc.1_Missense_Mutation_p.R308L|JAKMIP1_uc010idd.1_Missense_Mutation_p.R493L|JAKMIP1_uc003giu.4_Missense_Mutation_p.R493L|JAKMIP1_uc011bwc.2_Missense_Mutation_p.R328L|JAKMIP1_uc003giv.4_Missense_Mutation_p.R493L|JAKMIP1_uc010ide.3_Missense_Mutation_p.R493L	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	493	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.R493L(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGGTACTCCCGGGTCAGCTG	0.582000													6	76					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4913102	4913102	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:4913102G>T	uc002wlg.1	-	3	483	c.108_splice	c.e3+1	p.P36_splice	SLC23A2_uc010zqr.1_Splice_Site_p.P35_splice|SLC23A2_uc002wlh.1_Splice_Site_p.P36_splice|SLC23A2_uc002wli.3_Splice_Site_p.P35_splice|SLC23A2_uc002wlj.1_Splice_Site	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	36					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TATGATTACCGGAAGAGTGAA	0.408000													4	87					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124233163	124233163	+	Missense_Mutation	SNP	C	C	A	rs149700024	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:124233163C>A	uc001ufr.3	+	14	2014	c.1766C>A	c.(1765-1767)cCg>cAg	p.P589Q		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	589					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GTTTCCATCCCGGAACTTCTC	0.408000													6	136					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918049	15918049	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:15918049G>T	uc002nbq.2	-	0	888	c.799C>A	c.(799-801)Cag>Aag	p.Q267K		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q267H(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TCCAGAGACTGGGGACTTTTG	0.557000													6	82					0	0	1	0	0
UBE2A	7319	broad.mit.edu	37	X	118717163	118717163	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:118717163G>T	uc004erl.3	+	5	580	c.404G>T	c.(403-405)cGg>cTg	p.R135L	UBE2A_uc004erm.3_Missense_Mutation_p.R105L|UBE2A_uc004erp.3_Missense_Mutation_p.R60L	NM_003336	NP_861442	P49459	UBE2A_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2A (UBE2A), transcript variant 1, mRNA.	135					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein autoubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	p.R135L(1)|p.R105L(1)		haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						GAGAACAAACGGGAATATGAA	0.418000								Rad6 pathway					4	69					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48847438	48847438	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:48847438G>T	uc004dly.1	-	6	577	c.542C>A	c.(541-543)cCc>cAc	p.P181H	GRIPAP1_uc004dlz.3_Missense_Mutation_p.P71H|GRIPAP1_uc004dma.3_Missense_Mutation_p.P128H	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	181						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAGGACGGTGGGGGCCGGGCC	0.607000													5	47					0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711366	20711366	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:20711366C>A	uc010tld.2	+	0	416	c.416C>A	c.(415-417)cCa>cAa	p.P139Q		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATCTGCCACCCACTGCAGTAC	0.463000													6	113					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205901876	205901876	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:205901876G>T	uc001hdp.3	-	3	444	c.330C>A	c.(328-330)ccC>ccA	p.P110P	SLC26A9_uc001hdq.3_Silent_p.P110P	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	110						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGTCAGGAGGGGGAAGAAGG	0.592000													6	49					0	0	1	0	0
BIRC5	332	broad.mit.edu	37	17	76212769	76212769	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:76212769C>A	uc002jvg.3	+	2	367	c.246C>A	c.(244-246)tcC>tcA	p.S82S	BIRC5_uc002jve.1_Intron|BIRC5_uc002jvd.1_Silent_p.S105S|BIRC5_uc010dhl.1_Silent_p.S130S|BIRC5_uc010dhk.1_Non-coding_Transcript|BIRC5_uc002jvf.3_Silent_p.S105S|BIRC5_uc002jvh.3_Intron|BIRC5_uc002jvi.3_Non-coding_Transcript	NM_001168	NP_001159	O15392	BIRC5_HUMAN	Homo sapiens baculoviral IAP repeat containing 5 (BIRC5), transcript variant 1, mRNA.	82					G2/M transition of mitotic cell cycle|anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	Ran GTPase binding|caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.S82S(2)		kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			AGCATTCGTCCGGTTGCGCTT	0.443000													5	115					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113803396	113803396	+	Silent	SNP	C	C	A	rs41286610	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:113803396C>A	uc001vsx.3	+	7	1089	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P	F10_uc001vsy.3_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	344	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	p.L343P(1)		endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGCCTCCCCGAGCGTGACT	0.642000													4	55					0	0	1	0	0
TMEM211	255349	broad.mit.edu	37	22	25331314	25331314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:25331314C>A	uc003abk.1	-	2	401	c.376G>T	c.(376-378)Gaa>Taa	p.E126*		NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN	Homo sapiens transmembrane protein 211 (TMEM211), mRNA.	197						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGTTCATTTCTGGCACAAAG	0.493000													42	80					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70450815	70450815	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:70450815G>T	uc001jok.4	+	11	6160	c.5655G>T	c.(5653-5655)tcG>tcT	p.S1885S		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1885					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.P1884S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CGATGCCTTCGGGAAGACTCA	0.572000													4	81					0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58236707	58236707	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:58236707G>T	uc002iym.4	+	7	955	c.861G>T	c.(859-861)ccG>ccT	p.P287P	CA4_uc010wou.2_Intron	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	287					bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCGGGGCCCCGGGTCGGCCGC	0.662000													4	11					0	0	1	0	0
PPP5C	5536	broad.mit.edu	37	19	46890461	46890461	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:46890461C>A	uc002pem.3	+	7	1119	c.1016C>A	c.(1015-1017)cCg>cAg	p.P339Q	PPP5C_uc002pen.3_Missense_Mutation_p.P317Q|PPP5C_uc010xya.2_Missense_Mutation_p.P206Q|PPP5C_uc010xyb.1_Missense_Mutation_p.P197Q	NM_006247	NP_006238	P53041	PPP5_HUMAN	Homo sapiens protein phosphatase 5, catalytic subunit (PPP5C), transcript variant 1, mRNA.	339	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GAGTGGCTCCCGTTGGCCCAG	0.587000													4	43					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117250126	117250126	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:117250126C>A	uc003pxm.3	+	17	2666	c.2603C>A	c.(2602-2604)cCa>cAa	p.P868Q		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	868					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTCGAACTCCAGTCCTAGGT	0.393000													5	82					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28610092	28610092	+	Silent	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:28610092C>T	uc001urw.3	-	10	1480	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.K466K	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	466					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCTGAACACTTCTTCCAGG	0.423000			"""Mis, O"""		"""AML, ALL"""								8	296					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7542219	7542219	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:7542219C>A	uc003mxp.1	+	0	350	c.71C>A	c.(70-72)cCg>cAg	p.P24Q	DSP_uc003mxq.1_Missense_Mutation_p.P24Q|DSP_uc021yle.1_Missense_Mutation_p.P24Q	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	24	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGTCTGGCCCGGACCTGCGC	0.682000													3	12					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41246133	41246133	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:41246133G>T	uc002icq.3	-	9	1647	c.1415C>A	c.(1414-1416)cCc>cAc	p.P472H	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.P401H|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.P425H|BRCA1_uc002ict.3_Missense_Mutation_p.P472H|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.P472H|BRCA1_uc002ide.1_Missense_Mutation_p.P303H|BRCA1_uc010cyy.1_Missense_Mutation_p.P472H|BRCA1_uc010whs.1_Missense_Mutation_p.P472H|BRCA1_uc010cyz.2_Missense_Mutation_p.P425H|BRCA1_uc010cza.2_Missense_Mutation_p.P446H|BRCA1_uc010wht.1_Missense_Mutation_p.P176H	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	472					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTTAAGTTGGGGAGGCTTGC	0.358000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			7	149					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969361	140969361	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:140969361C>A	uc011mwp.2	+	3	688	c.688C>A	c.(688-690)Cgt>Agt	p.R230S		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	230	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGAAAGCCCGTGAGTTCAT	0.448000													5	99					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31328983	31328983	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:31328983C>A	uc003aje.1	-	22	3593	c.2229G>T	c.(2227-2229)agG>agT	p.R743S		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	805							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGTACCACTCCCTGTTCACAC	0.577000													9	317					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230450627	230450627	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:230450627C>A	uc002vpv.3	-	3	941	c.794G>T	c.(793-795)gGg>gTg	p.G265V	DNER_uc010zly.1_5'UTR	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	265					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)		GACCAGTCCCCCTGAAGCCTG	0.517000													6	82					0	0	1	0	0
ZBTB5	9925	broad.mit.edu	37	9	37441863	37441863	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:37441863C>A	uc022bgv.1	-	0	686	c.686G>T	c.(685-687)cGg>cTg	p.R229L	ZBTB5_uc003zzx.3_Missense_Mutation_p.R229L	NM_014872	NP_055687	O15062	ZBTB5_HUMAN	Homo sapiens zinc finger and BTB domain containing 5 (ZBTB5), mRNA.	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GAACTCCTCCCGAGAATGAAC	0.493000													6	147					0	0	1	0	0
SLC7A5	8140	broad.mit.edu	37	16	87874706	87874706	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:87874706C>A	uc002fkm.3	-	2	792	c.720G>T	c.(718-720)gtG>gtT	p.V240V		NM_003486	NP_003477	Q01650	LAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 (SLC7A5), mRNA.	240					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CAATGTTCCCCACATCCAGTT	0.517000													6	90					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23420349	23420349	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:23420349G>T	uc001bgk.2	-	3	956	c.406C>A	c.(406-408)Cag>Aag	p.Q136K	LUZP1_uc010odv.1_Missense_Mutation_p.Q136K|LUZP1_uc001bgl.3_Missense_Mutation_p.Q136K|LUZP1_uc001bgm.1_Missense_Mutation_p.Q136K	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	136						nucleus		p.T135T(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGACACAGCTGGGTACAGTCA	0.463000													6	124					0	0	1	0	0
ATHL1	80162	broad.mit.edu	37	11	294274	294274	+	Silent	SNP	C	C	A	rs143073034		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:294274C>A	uc010qvu.2	+	12	1931	c.1816C>A	c.(1816-1818)Cga>Aga	p.R606R	ATHL1_uc001lor.4_Silent_p.R358R|ATHL1_uc001lou.4_Silent_p.R181R|ATHL1_uc001lov.4_Silent_p.R67R	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	606					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGGGTCACCCGAGCGGGTGT	0.607000													5	69					0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44845976	44845976	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:44845976G>T	uc002ikv.2	-	3	897	c.778C>A	c.(778-780)Cgg>Agg	p.R260R		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	260					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TACTTGGCCCGGAGGGTCTCC	0.587000													4	78					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90383966	90383966	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:90383966G>T	uc003pnn.1	-	78	13220	c.13104C>A	c.(13102-13104)ccC>ccA	p.P4368P		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4368					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGCAACCAGAGGGCAGCTGAC	0.473000													5	60					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797468	57797468	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:57797468C>A	uc003hch.3	+	3	2791	c.2444C>A	c.(2443-2445)cCt>cAt	p.P815H	REST_uc003hci.3_Missense_Mutation_p.P815H|REST_uc010ihf.3_Missense_Mutation_p.P489H	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	815	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAAAGCCTCCTCTCCGAAAA	0.507000													7	199					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364285	47364285	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:47364285C>A	uc021qis.1	-	16	1523	c.1468G>T	c.(1468-1470)Ggg>Tgg	p.G490W	MYBPC3_uc021qir.1_Missense_Mutation_p.G142W|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	489	Ig-like C2-type 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AGCTCCACCCCGTCCTTCAGC	0.617000													5	114					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204305597	204305597	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:204305597G>T	uc002vad.3	-	13	2541	c.2316C>A	c.(2314-2316)ccC>ccA	p.P772P		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	772					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGGAGGGAGGGGTGCAGGGA	0.602000													6	82					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687669	158687669	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:158687669G>T	uc021pbn.1	-	0	237	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAGCATCTTGGGAATGGTGG	0.453000													8	259					0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151011338	151011338	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:151011338C>A	uc001ewl.2	+	3	442	c.269C>A	c.(268-270)cCa>cAa	p.P90Q	BNIPL_uc009wmi.2_Missense_Mutation_p.P8Q|BNIPL_uc009wmj.2_Non-coding_Transcript	NM_138278	NP_001153114	Q7Z465	BNIPL_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kD interacting protein like (BNIPL), transcript variant 1, mRNA.	90					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|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)			CTTTCTGCCCCAGAGTTGCGG	0.577000													5	62					0	0	1	0	0
CLDN15	24146	broad.mit.edu	37	7	100877705	100877705	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:100877705C>A	uc003uyg.2	-	1	601	c.236G>T	c.(235-237)cGg>cTg	p.R79L	CLDN15_uc003uyh.2_Missense_Mutation_p.R79L|CLDN15_uc003uyi.3_Missense_Mutation_p.G126W|CLDN15_uc022aja.1_Missense_Mutation_p.G126W	NM_014343	NP_001172009	P56746	CLD15_HUMAN	Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA.	79					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CATGAGTGCCCGGCAGGCCTG	0.642000													5	71					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51890343	51890343	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:51890343C>A	uc003pah.1	-	31	4541	c.4265G>T	c.(4264-4266)cGg>cTg	p.R1422L	PKHD1_uc003pai.3_Missense_Mutation_p.R1422L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1422	IPT/TIG 9.				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)					GAGGTCAACCCGAACTGACCT	0.537000													7	143					0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151810417	151810417	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:151810417C>A	uc010lqg.1	+	7	1397	c.1167C>A	c.(1165-1167)ccC>ccA	p.P389P	GALNT11_uc011kvm.1_Silent_p.P308P|GALNT11_uc003wku.2_Silent_p.P389P|GALNT11_uc003wkw.1_Silent_p.P137P	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	389						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		ATGGATCTCCCGAAGGCCAGG	0.473000													6	139					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45534565	45534565	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:45534565G>T	uc002zeb.3	+	4	476	c.386G>T	c.(385-387)cGg>cTg	p.R129L		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	129						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GGGAAGAAGCGGGAGTTCAAC	0.527000													4	117					0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41257332	41257332	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:41257332C>A	uc002ooz.3	+	0	574	c.19C>A	c.(19-21)Cgc>Agc	p.R7S	C19orf54_uc002oou.1_5'Flank|C19orf54_uc002oow.1_5'Flank|C19orf54_uc002oox.1_5'Flank|C19orf54_uc002ooy.1_5'Flank|C19orf54_uc010xvs.1_5'Flank	NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	7						nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCCGAGACCCGCCCTAACCA	0.493000													6	208					0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432472	30432472	+	Missense_Mutation	SNP	G	G	A	rs2296917		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:30432472G>A	uc002wwt.1	-	0	949	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	292			P -> A (in dbSNP:rs2296917).		Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TGGTCAGTTGGCAGGGGCAGT	0.687000													5	40					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24358377	24358377	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:24358377C>A	uc003xeb.3	+	18	2190	c.2077C>A	c.(2077-2079)Cga>Aga	p.R693R	ADAM7_uc003xec.3_Silent_p.R465R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	693					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)		AGTTCGTTACCGAAAATGTAT	0.368000													5	136					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028126	102028126	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:102028126C>A	uc021sdx.1	+	0	439	c.293C>A	c.(292-294)cCg>cAg	p.P98Q	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	72					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	p.D98V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CCCGATGACCCGCCCATCTGC	0.652000													4	47					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9087015	9087015	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:9087015C>A	uc001qvd.3	+	9	2350	c.2194C>A	c.(2194-2196)Cag>Aag	p.Q732K	PHC1_uc001qve.3_Missense_Mutation_p.Q732K	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	732					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CGTGAAGCCCCAGATTCTCAC	0.552000													5	75					0	0	1	0	0
FAM211B	388886	broad.mit.edu	37	22	24982284	24982284	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:24982284C>T	uc003aaq.2	-	3	547	c.518G>A	c.(517-519)cGc>cAc	p.R173H	GGT1_uc003aan.1_Intron|FAM211B_uc003aao.2_Non-coding_Transcript	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN	Homo sapiens family with sequence similarity 211, member B (FAM211B), mRNA.	173																	GCTCAGGTAGCGTGTGATGTG	0.627000													81	130					0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30793358	30793358	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:30793358G>T	uc003tbs.1	+	1	182	c.166G>T	c.(166-168)Ggg>Tgg	p.G56W	FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.G55W	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	56						cytoplasm	amine N-methyltransferase activity	p.G56V(2)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						AGGCCTCCAAGGGGACACGCT	0.532000													9	353					0	0	1	0	0
RAB36	9609	broad.mit.edu	37	22	23500217	23500217	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:23500217C>A	uc002zwv.1	+	6	671	c.631C>A	c.(631-633)Ctg>Atg	p.L211M	RAB36_uc010gtw.1_Missense_Mutation_p.L189M	NM_004914	NP_004905	O95755	RAB36_HUMAN	Homo sapiens RAB36, member RAS oncogene family (RAB36), mRNA.	211					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		CGTGCAGACCCTGGAGCATAC	0.627000													7	192					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94487404	94487404	+	Missense_Mutation	SNP	C	C	A	rs113106943	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:94487404C>A	uc001dqh.3	-	32	4875	c.4771G>T	c.(4771-4773)Ggg>Tgg	p.G1591W		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1591					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTACATACCCCGCTCACATTC	0.433000													5	83					0	0	1	0	0
RBM24	221662	broad.mit.edu	37	6	17292081	17292081	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:17292081C>A	uc003nbz.4	+	3	446	c.442C>A	c.(442-444)Cct>Act	p.P148T	RBM24_uc003nby.4_3'UTR|RBM24_uc011dix.2_Missense_Mutation_p.P90T|RBM24_uc003nca.3_Missense_Mutation_p.P103T|RBM24_uc011diy.2_Silent_p.P61P|RBM24_uc011diz.2_Silent_p.P46P	NM_001143942	NP_001137413	Q9BX46	RBM24_HUMAN	Homo sapiens RNA binding motif protein 24 (RBM24), transcript variant 1, mRNA.	148	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	p.P103T(2)|p.P148T(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CTCCACCACCCCTTACATTGA	0.592000													7	194					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129886	149129886	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:149129886C>A	uc003wfv.3	-	5	1640	c.1477G>T	c.(1477-1479)Ggg>Tgg	p.G493W		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GACATCTCCCCGGGCAGCGGG	0.662000													5	42					0	0	1	0	0
GPT	2875	broad.mit.edu	37	8	145730195	145730195	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:145730195C>A	uc003zdh.4	+	2	517	c.294C>A	c.(292-294)ccC>ccA	p.P98P	GPT_uc011llj.1_Silent_p.P98P	NM_005309	NP_005300	P24298	ALAT1_HUMAN	Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	98					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGAGCAGCCCCAACTTCCCTG	0.652000													10	343					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104107524	104107524	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:104107524G>T	uc001tjw.3	+	41	4701	c.4515G>T	c.(4513-4515)acG>acT	p.T1505T	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1505	EGF-like 12.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGCTACACGGGTGATGGCA	0.527000													7	240					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183887886	183887886	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:183887886C>A	uc003fms.3	+	13	1731	c.1591C>A	c.(1591-1593)Cct>Act	p.P531T	DVL3_uc011bqw.2_Missense_Mutation_p.P514T|DVL3_uc003fmt.3_Missense_Mutation_p.P202T|DVL3_uc003fmu.3_Missense_Mutation_p.P363T	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	531					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGGGGCCGCCCCTTGGCCCAT	0.682000													5	63					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25243031	25243031	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:25243031G>T	uc001rgh.3	+	12	1600	c.506G>T	c.(505-507)tGg>tTg	p.W169L	LRMP_uc010sja.2_Missense_Mutation_p.W169L|LRMP_uc010sjc.2_Missense_Mutation_p.W169L|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.W116L|LRMP_uc010sjd.2_Missense_Mutation_p.W116L	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	225					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)					AAGTGTGACTGGTTTACCTTG	0.398000													7	99					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	127999063	127999063	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:127999063C>A	uc004bpn.3	-	7	2034	c.1773G>T	c.(1771-1773)aaG>aaT	p.K591N		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	591					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CCATGGTCTCCTTATCTTCAG	0.393000										Prostate(1;0.17)			6	131					0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2343308	2343308	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:2343308C>A	uc004cqf.4	-	1	196	c.147G>T	c.(145-147)acG>acT	p.T49T		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA.	49							binding|oxidoreductase activity	p.T49T(4)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTGTCCCTCCCGTCACTATAG	0.423000													5	158					0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116823280	116823280	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:116823280C>A	uc004bie.4	-	8	1215	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W	AMBP_uc011lxk.2_3'UTR	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	318	BPTI/Kunitz inhibitor 2.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	p.G318W(2)|p.G318G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGGCAGCCCCCGTAGGGGAAG	0.622000													5	116					0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629815	47629815	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:47629815C>A	uc001rpq.3	+	1	1494	c.969C>A	c.(967-969)ccC>ccA	p.P323P	FAM113B_uc001rpn.3_Silent_p.P323P|FAM113B_uc021qxi.1_Silent_p.P323P	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	323	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					ctcctcctcccATTCTCCATC	0.602000													7	160					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200582	155200582	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:155200582G>T	uc021xge.1	-	22	3534	c.3257C>A	c.(3256-3258)cCa>cAa	p.P1086Q	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.P1048Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1086					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)			ATGCTGCTTTGGGGAGAGAGA	0.512000													7	221					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156378730	156378730	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:156378730G>T	uc003lwh.2	-	2	529	c.472C>A	c.(472-474)Cga>Aga	p.R158R	TIMD4_uc010jii.2_Silent_p.R158R	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	158	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCATTTGTCGGGTGGTGGTG	0.527000													8	438					0	0	1	0	0
GEMIN4	50628	broad.mit.edu	37	17	649429	649429	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:649429G>T	uc002frs.1	-	1	1973	c.1854C>A	c.(1852-1854)ccC>ccA	p.P618P		NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	618					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TTTCTTCCTTGGGTGTAGAGA	0.507000													8	161					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86257427	86257427	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:86257427C>A	uc002sqs.3	-	30	5050	c.4671G>T	c.(4669-4671)aaG>aaT	p.K1557N	POLR1A_uc010ytb.2_Missense_Mutation_p.K923N	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1557					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGTGATGCCCTTGGTCGCAT	0.478000													7	108					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78686785	78686785	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:78686785C>A	uc004akc.2	+	6	1403	c.865C>A	c.(865-867)Cgg>Agg	p.R289R	PCSK5_uc004ajy.2_Silent_p.R289R|PCSK5_uc004ajz.3_Silent_p.R289R|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	289	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCCCTCACCCGGCAAGCCTT	0.507000													5	206					0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13151269	13151269	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:13151269C>A	uc001ilu.1	+	3	585	c.147C>A	c.(145-147)acC>acA	p.T49T	OPTN_uc001ilv.1_Silent_p.T49T|OPTN_uc001ilw.1_Silent_p.T49T|OPTN_uc001ilx.1_Silent_p.T49T|OPTN_uc001ily.1_Silent_p.T49T|OPTN_uc010qbr.1_5'UTR	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	49					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGCTCCTGACCGAGAACCACC	0.592000													4	73					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740204	62740204	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:62740204G>T	uc001dah.4	-	2	949	c.572C>A	c.(571-573)cCt>cAt	p.P191H	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	191	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTGAAGGGGAGGGAGGGCAGG	0.622000													5	51					0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99672776	99672776	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:99672776C>A	uc003uss.3	-	1	592	c.274G>T	c.(274-276)Ggg>Tgg	p.G92W	ZNF3_uc003usp.3_Missense_Mutation_p.G85W|ZNF3_uc003usq.3_Missense_Mutation_p.G85W|ZNF3_uc010lgj.3_Missense_Mutation_p.G49W|ZNF3_uc003usr.3_Missense_Mutation_p.G85W|ZNF3_uc003ust.4_Missense_Mutation_p.G85W			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	85	KRAB.				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G85W(2)|p.R92C(2)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AACACATTCCCGTAATTCTCC	0.448000													6	205					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5978517	5978517	+	Silent	SNP	C	C	A	rs141247640		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:5978517C>A	uc001iit.3	+	20	3185	c.3081C>A	c.(3079-3081)acC>acA	p.T1027T	FBXO18_uc001iir.3_Silent_p.T919T|FBXO18_uc001iis.3_Silent_p.T976T|FBXO18_uc009xig.3_Silent_p.T902T	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	976					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CTGTTGACACCGTCCTTACCA	0.488000													4	87					0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138395816	138395816	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:138395816C>A	uc004cfv.4	+	3	802	c.728C>A	c.(727-729)cCg>cAg	p.P243Q	BC015688_uc004cfy.3_Intron	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), nuclear gene encoding mitochondrial protein, mRNA.	243					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)		GACGACTCTCCGCTGGCTGTG	0.617000													5	105					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228462475	228462475	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:228462475G>T	uc009xez.1	+	19	5930	c.5886G>T	c.(5884-5886)ctG>ctT	p.L1962L	OBSCN_uc001hsn.3_Silent_p.L1962L|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1962	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCTGGTGCTGGAGGACGCGG	0.647000													4	14					0	0	1	0	0
OAZ2	4947	broad.mit.edu	37	15	64982648	64982648	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:64982648C>A	uc002ano.2	-	3	493	c.278G>T	c.(277-279)tGg>tTg	p.W93L		NM_002537	NP_002528	O95190	OAZ2_HUMAN	Homo sapiens ornithine decarboxylase antizyme 2 (OAZ2), mRNA.	93					polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding									L-Ornithine(DB00129)	GACTGCATCCCAAGAAGAGAC	0.517000													7	196					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23197601	23197601	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:23197601C>A	uc002dlm.1	+	1	148	c.9C>A	c.(7-9)ccC>ccA	p.P3P		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	3					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCATGGCACCCGGAGAGAAGA	0.592000													4	41					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1857598	1857598	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:1857598C>A	uc003wpr.3	+	17	2283	c.2105C>A	c.(2104-2106)cCg>cAg	p.P702Q	ARHGEF10_uc003wpq.1_Missense_Mutation_p.P726Q|ARHGEF10_uc003wps.3_Missense_Mutation_p.P664Q|ARHGEF10_uc003wpv.3_Missense_Mutation_p.P435Q|ARHGEF10_uc010lre.3_Missense_Mutation_p.P382Q	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	727					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GCCGTTCACCCGCCGGAGAGC	0.597000													6	88					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32542475	32542475	+	Missense_Mutation	SNP	C	C	A	rs149570596		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:32542475C>A	uc003zrb.3	-	2	2240	c.2048G>T	c.(2047-2049)cGg>cTg	p.R683L	TOPORS_uc003zrc.3_Missense_Mutation_p.R618L	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	683	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding	p.R683Q(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATTTCTGCTCCGTGATCTTCT	0.393000													6	188					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404731	10404731	+	Missense_Mutation	SNP	C	C	A	rs147919797		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:10404731C>A	uc002gmo.3	-	26	3528	c.3434G>T	c.(3433-3435)cGg>cTg	p.R1145L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1145						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.S1144F(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCCAGCTCCCGGGAGAGATC	0.602000													6	136					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67576815	67576815	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:67576815C>A	uc010vjp.2	+	12	2372	c.2186C>A	c.(2185-2187)cCa>cAa	p.P729Q	FAM65A_uc010cei.2_Missense_Mutation_p.P551Q|FAM65A_uc002eth.3_Missense_Mutation_p.P709Q|FAM65A_uc010cej.3_Missense_Mutation_p.P713Q|FAM65A_uc002eti.2_Missense_Mutation_p.P672Q|FAM65A_uc010vjq.2_Missense_Mutation_p.P723Q|FAM65A_uc002etj.1_Missense_Mutation_p.P708Q|FAM65A_uc002etk.3_Missense_Mutation_p.P708Q	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	713	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TGTAGTCCCCCAGTCTCCAAT	0.592000													9	247					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99006159	99006159	+	Missense_Mutation	SNP	C	C	A	rs104893612		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:99006159C>A	uc010fij.3	+	5	641	c.500C>A	c.(499-501)cCg>cAg	p.P167Q	CNGA3_uc002syt.3_Missense_Mutation_p.P163Q|CNGA3_uc002syu.3_Missense_Mutation_p.P145Q			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	163					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTGGTGGACCCGTCCAGCAAC	0.527000													6	133					0	0	1	0	0
LXN	56925	broad.mit.edu	37	3	158390192	158390192	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:158390192C>A	uc003fch.3	-	0	291	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	GFM1_uc003fcd.3_Intron|GFM1_uc003fce.3_Intron|GFM1_uc003fcg.3_Intron|LXN_uc011bov.1_Missense_Mutation_p.G26W	NM_020169	NP_064554	Q9BS40	LXN_HUMAN	Homo sapiens latexin (LXN), mRNA.	26						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCGGGGTCCCCTGCTGGTAG	0.592000											OREG0015899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	129					0	0	1	0	0
CEPT1	10390	broad.mit.edu	37	1	111690384	111690384	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:111690384G>T	uc001eah.1	+	1	256	c.48G>T	c.(46-48)ccG>ccT	p.P16P	CEPT1_uc001eag.3_Silent_p.P16P|CEPT1_uc001eai.1_Silent_p.P16P|CEPT1_uc001eaj.1_Silent_p.P16P	NM_001007794	NP_006081	Q9Y6K0	CEPT1_HUMAN	Homo sapiens choline/ethanolamine phosphotransferase 1 (CEPT1), transcript variant 2, mRNA.	16						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	ATTCTCACCCGGAGTCCCCAG	0.398000													4	75					0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118342931	118342931	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:118342931C>A	uc001pta.3	+	2	1080	c.1057C>A	c.(1057-1059)Cga>Aga	p.R353R	MLL_uc001ptb.3_Silent_p.R353R|MLL_uc001psz.1_Silent_p.R386R|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	353					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	p.R353R(1)|p.R353Q(1)		breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ACAAAGCCCTCGAAGGATTAA	0.423000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""								5	112					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74637406	74637406	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:74637406C>A	uc002lmi.3	+	21	4115	c.3917C>A	c.(3916-3918)cCa>cAa	p.P1306Q	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1306					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCTACTGACCCAAACGTGTTT	0.488000													5	105					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406268	144406268	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:144406268C>A	uc003yxz.3	-	6	880	c.861G>T	c.(859-861)cgG>cgT	p.R287R	TOP1MT_uc011lkd.2_Silent_p.R189R|TOP1MT_uc011lke.2_Silent_p.R189R|TOP1MT_uc011lkf.2_Silent_p.R82R|TOP1MT_uc010mfd.1_Silent_p.R82R	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	287					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			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)	CCACAAATCCCCGCAGGCGTC	0.507000													7	161					0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179250038	179250038	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:179250038C>A	uc003mkw.4	+	1	381	c.286C>A	c.(286-288)Cga>Aga	p.R96R	SQSTM1_uc011dgr.2_Silent_p.R12R|SQSTM1_uc011dgs.2_Silent_p.R12R|SQSTM1_uc003mkx.3_Silent_p.R12R	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	96	Interaction with PRKCZ and dimerization (By similarity).|OPR.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACATCTTCCGAATCTACAT	0.493000													4	53					0	0	1	0	0
PLK1	5347	broad.mit.edu	37	16	23695311	23695311	+	Missense_Mutation	SNP	C	C	A	rs145066711		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:23695311C>A	uc002dlz.1	+	4	990	c.937C>A	c.(937-939)Cgt>Agt	p.R313S		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	313					G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding	p.R313H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TATCCCTGCCCGTCTCCCCAT	0.547000													6	221					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275452	71275452	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:71275452C>A	uc003hfi.3	+	2	581	c.407C>A	c.(406-408)cCt>cAt	p.P136H		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	136	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ATTTACCTTCCTATCTCTAAC	0.438000													7	110					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677402	219677402	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:219677402C>A	uc002viz.4	+	3	1208	c.774C>A	c.(772-774)ccC>ccA	p.P258P		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	258					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CCTTCCTCCCCAAGTGGACTC	0.572000													10	379					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73461906	73461906	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:73461906G>T	uc001jrx.4	+	21	2909	c.2519G>T	c.(2518-2520)cGg>cTg	p.R840L	CDH23_uc001jry.3_Missense_Mutation_p.R840L|CDH23_uc001jrz.3_Missense_Mutation_p.R840L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	842	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATGCTGGACCGGGAGAACCCC	0.612000													5	152					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19436655	19436655	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:19436655G>T	uc001bbi.3	-	80	12044	c.12040C>A	c.(12040-12042)Ctc>Atc	p.L4014I		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4014					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGCACATGAGGGTAATGTTT	0.498000													5	96					0	0	1	0	0
METRN	79006	broad.mit.edu	37	16	767145	767145	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:767145C>A	uc002cjd.3	+	3	757	c.640C>A	c.(640-642)Cgt>Agt	p.R214S	AL360260_uc010bra.2_5'Flank	NM_024042	NP_076947	Q9UJH8	METRN_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator (METRN), mRNA.	214										skin(1)	1		Hepatocellular(780;0.00335)				GGTGGCCGCCCGTGTCCTCCG	0.662000													3	12					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572456	53572456	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:53572456C>A	uc010eqk.3	-	6	1747	c.1331G>T	c.(1330-1332)cGg>cTg	p.R444L	ZNF160_uc002qaq.4_Missense_Mutation_p.R444L|ZNF160_uc002qar.4_Missense_Mutation_p.R444L	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	444					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ATGAACTCTCCGATGCCTTCC	0.423000													5	144					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52644936	52644936	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:52644936C>A	uc002xws.2	-	3	1056	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W	BCAS1_uc010zzb.1_Missense_Mutation_p.G143W|BCAS1_uc010gim.2_Missense_Mutation_p.G143W|BCAS1_uc002xwt.2_Missense_Mutation_p.G240W|BCAS1_uc010gil.1_Missense_Mutation_p.G240W|BCAS1_uc010zzc.2_Missense_Mutation_p.G143W	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	240						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTTACCTTCCCTGCAGGGACA	0.557000													7	198					0	0	1	0	0
SAT2	112483	broad.mit.edu	37	17	7530473	7530473	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:7530473C>A	uc002gic.2	-	2	431	c.190G>T	c.(190-192)Ggg>Tgg	p.G64W	SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SAT2_uc002gib.1_Non-coding_Transcript|SHBG_uc010cmz.2_5'Flank|SHBG_uc010cmv.2_5'Flank|SHBG_uc010cmw.2_5'Flank|SHBG_uc010cmx.2_5'Flank|SHBG_uc010cmy.2_5'Flank|SHBG_uc002gid.3_5'Flank|SHBG_uc002gie.2_5'Flank|SHBG_uc010cnd.2_5'Flank|SHBG_uc010cna.2_5'Flank|SHBG_uc010vue.1_5'Flank|SHBG_uc010vuf.1_5'Flank|SHBG_uc010cnb.2_5'Flank|SHBG_uc010cnc.2_5'Flank	NM_133491	NP_597998	Q96F10	SAT2_HUMAN	Homo sapiens spermidine/spermine N1-acetyltransferase family member 2 (SAT2), mRNA.	64	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	AGTAGCTTCCCGGGCGCTGGA	0.547000													5	94					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21932083	21932083	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:21932083C>A	uc003svc.3	+	77	12600	c.12569C>A	c.(12568-12570)cCa>cAa	p.P4190Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4190					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						TTTGCTGCCCCACCCTACCTA	0.473000									Kartagener syndrome				8	287					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127648420	127648420	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:127648420G>T	uc003kuu.3	-	36	5224	c.4785C>A	c.(4783-4785)acC>acA	p.T1595T		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1595	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.T1595T(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCCCGATCTCGGTGTTGCAAG	0.562000													8	314					0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225707067	225707067	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:225707067C>A	uc001hpc.1	-	4	1088	c.635G>T	c.(634-636)cGg>cTg	p.R212L	ENAH_uc021pju.1_Missense_Mutation_p.R199L|ENAH_uc001hpd.1_Missense_Mutation_p.R212L	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	212					T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		gcgttcctgccgctccaggcg	0.607000													3	13					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19198013	19198013	+	Silent	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:19198013T>C	uc021wle.1	-	19	3147	c.3072A>G	c.(3070-3072)ctA>ctG	p.L1024L	CLTCL1_uc021wld.1_Silent_p.L1024L|CLTCL1_uc021wlc.1_Silent_p.L1024L|CLTCL1_uc021wlf.1_Silent_p.L1024L|CLTCL1_uc011agw.1_Silent_p.L1024L|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_5'Flank|CLTCL1_uc002zpd.1_5'UTR|CLTCL1_uc002zpe.2_5'UTR	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1024	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACAGATTCTGTAGATTCCTGA	0.552000			T	?	ALCL								3	47					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70191661	70191661	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:70191661C>A	uc021pru.1	-	12	2199	c.2199G>T	c.(2197-2199)gtG>gtT	p.V733V	DNA2_uc021prt.1_Silent_p.V733V|DNA2_uc021prv.1_5'Flank|DNA2_uc001jog.2_Silent_p.V647V|DNA2_uc001joh.2_Non-coding_Transcript	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	647					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CAGGCATACCCACGATGAGTG	0.363000													8	279					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43193602	43193602	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:43193602C>A	uc003bdd.2	-	15	1763	c.1543G>T	c.(1543-1545)Ggt>Tgt	p.G515C	ARFGAP3_uc010gzf.2_Missense_Mutation_p.G471C	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	515					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TATTAAGAACCGTAGCGATCC	0.438000													5	102					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46598353	46598353	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:46598353C>A	uc009zkj.1	-	9	1352	c.667G>T	c.(667-669)Gga>Tga	p.G223*	SLC38A1_uc001rpb.3_Nonsense_Mutation_p.G223*|SLC38A1_uc001rpc.3_Nonsense_Mutation_p.G223*|SLC38A1_uc001rpd.3_Nonsense_Mutation_p.G223*|SLC38A1_uc001rpe.3_Nonsense_Mutation_p.G223*|SLC38A1_uc010slh.2_Nonsense_Mutation_p.G196*|SLC38A1_uc001rpa.3_Nonsense_Mutation_p.G223*	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	223					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AAGGAAAATCCACTAGTATAG	0.289000													8	214					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400029	89400029	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:89400029C>A	uc010upo.1	+	11	4587	c.4213C>A	c.(4213-4215)Cct>Act	p.P1405T	ACAN_uc010upp.1_Missense_Mutation_p.P1405T|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1405					cell adhesion		hyaluronic acid binding|sugar binding	p.P1291T(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACTACTGCCCCTGGAGTAGA	0.537000													9	305					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40481454	40481454	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:40481454C>A	uc002hzl.1	-	13	1495	c.1255G>T	c.(1255-1257)Ggg>Tgg	p.G419W	STAT3_uc002hzk.1_Missense_Mutation_p.G419W|STAT3_uc002hzm.1_Missense_Mutation_p.G419W|STAT3_uc010wgh.1_Missense_Mutation_p.G321W|STAT3_uc002hzn.1_Missense_Mutation_p.G419W	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	419					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCCCCATTCCCACATCTCTGC	0.522000									Hyperimmunoglobulin E Recurrent Infection Syndrome				8	325					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469110	10469110	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:10469110G>T	uc003wtc.3	-	3	2727	c.2498C>A	c.(2497-2499)cCg>cAg	p.P833Q		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	833					intracellular signal transduction			p.Q832H(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)		CTCTTGGGCCGGCTGCGTCCC	0.726000													3	24					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148767851	148767851	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:148767851C>A	uc003wfh.2	-	3	2150	c.2013G>T	c.(2011-2013)acG>acT	p.T671T	ZNF786_uc011kuk.1_Silent_p.T634T|ZNF786_uc003wfi.2_Silent_p.T585T	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTTCTCTCCCGTGTGCGTTC	0.577000													5	117					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66426285	66426285	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:66426285G>T	uc002eom.4	+	7	1373	c.1217_splice	c.e7+1	p.G406_splice	CDH5_uc002eon.1_Missense_Mutation_p.G406W	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	406	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GCATAGCATTGGGTAAGGGGG	0.557000													6	120					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23524102	23524102	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:23524102C>A	uc002zww.3	+	0	1551	c.955C>A	c.(955-957)Cgg>Agg	p.R319R	BCR_uc002zwx.3_Silent_p.R319R	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	319	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CTACTCCCCCCGGAGTTTTGA	0.652000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								3	21					0	0	1	0	0
ACAA1	30	broad.mit.edu	37	3	38164548	38164548	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:38164548G>T	uc003cht.3	-	11	1472	c.1265C>A	c.(1264-1266)cCt>cAt	p.P422H	ACAA1_uc003chu.3_Missense_Mutation_p.P329H	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	422					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TCAGTTCCCAGGGTATTCAAA	0.542000													6	110					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50642827	50642827	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:50642827C>T	uc001csb.2	+	2	585	c.317C>T	c.(316-318)aCt>aTt	p.T106I	ELAVL4_uc001cry.3_Missense_Mutation_p.T109I|ELAVL4_uc001crz.3_Missense_Mutation_p.T106I|ELAVL4_uc001csa.3_Missense_Mutation_p.T123I|ELAVL4_uc001csc.3_Missense_Mutation_p.T106I|ELAVL4_uc009vyu.3_Missense_Mutation_p.T111I|ELAVL4_uc010omz.2_Missense_Mutation_p.T111I	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	106	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCCATCAACACTTTAAATGGA	0.398000													22	47					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63668038	63668038	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:63668038G>T	uc001nxw.3	+	8	1355	c.776G>T	c.(775-777)cGg>cTg	p.R259L	MARK2_uc001nxv.4_Missense_Mutation_p.R259L|MARK2_uc001nxx.3_Missense_Mutation_p.R259L|MARK2_uc001nxy.3_Missense_Mutation_p.R259L|MARK2_uc001nxz.4_Missense_Mutation_p.R226L|MARK2_uc009yoy.3_Missense_Mutation_p.R226L	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	259	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CAGGAGCTGCGGGAACGGGTA	0.458000													8	235					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76811182	76811182	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:76811182C>A	uc003hix.3	-	4	702	c.345G>T	c.(343-345)acG>acT	p.T115T	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Silent_p.T115T	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	115					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.T115T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGCGTGGCCCCGTGTAACTGT	0.537000													5	178					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25664164	25664164	+	Silent	SNP	C	C	A	rs61740664	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:25664164C>A	uc003grr.3	+	1	123	c.42C>A	c.(40-42)ccC>ccA	p.P14P	SLC34A2_uc003grs.3_Silent_p.P14P|SLC34A2_uc010iev.3_Silent_p.P14P	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	14					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AGCCCAACCCCGATAAGTACC	0.542000			T	ROS1	NSCLC								4	68					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92406217	92406218	+	Frame_Shift_Ins	INS	-	T	T	rs149495064		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:92406217_92406218insT	uc003yez.3	+	17	2124_2125	c.1885_1886insT	c.(1885-1887)attfs	p.I629fs	SLC26A7_uc003yex.3_Frame_Shift_Ins_p.I629fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Ins_p.I629fs	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	629	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGAGAAACCAATTTTTTTTGAA	0.342													14	84	---	---	---	---					
FAM111B	374393	broad.mit.edu	37	11	58892377	58892377	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:58892377delA	uc001nnl.3	+	3	1050	c.807delA	c.(805-807)tcafs	p.S269fs	FAM111B_uc001nnm.3_Frame_Shift_Del_p.S239fs|FAM111B_uc010rko.2_Frame_Shift_Del_p.S239fs|FAM111B_uc021qjn.1_Frame_Shift_Del_p.S239fs	NM_198947	NP_001136176	Q6SJ93	F111B_HUMAN	Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.	269							catalytic activity	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGACATTTCAAAAAAAAAAG	0.313													7	37	---	---	---	---					
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:21961060_21961062delGCT	uc001waz.3	+	6	1388_1390	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_uc001way.3_In_Frame_Del_p.A304del|TOX4_uc010tlu.2_In_Frame_Del_p.A411del|TOX4_uc010tlv.2_In_Frame_Del_p.A304del	NM_014828	NP_055643	O94842	TOX4_HUMAN	Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA.	434	Gln/Pro-rich.|Poly-Ala.					PTW/PP1 phosphatase complex|chromatin|nucleus	DNA binding|protein binding	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581													8	321	---	---	---	---					
MIB1	57534	broad.mit.edu	37	18	19395662	19395663	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:19395662_19395663insT	uc002ktq.3	+	10	1565_1566	c.1565_1566insT	c.(1564-1566)gatfs	p.D522fs	MIB1_uc002ktp.3_Frame_Shift_Ins_p.D161fs	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	522					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGTAGTGCTGATTTGAATGCTC	0.411													21	61	---	---	---	---					
