Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PADI6	353238	broad.mit.edu	37	1	17720899	17720899	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:17720899G>A	uc001bak.1	+	11	1286	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	421					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	p.G428E(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAGGTCCAAGGGAAAGAGTAC	0.547000														9			4		0	0	0.00024832	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:54754843A>G	uc010yer.1	-	12	1903	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000														27			5		0	0	0.000602214	0	0
PRKD3	23683	broad.mit.edu	37	2	37543442	37543442	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:37543442C>T	uc002rqd.3	-	0	781	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	PRKD3_uc002rqf.1_Missense_Mutation_p.E76K	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	76					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TCCTGGGCTTCAATGGTAACA	0.428000														94			45		0	0	0.000781405	0	0
FAM83B	222584	broad.mit.edu	37	6	54804969	54804970	+	Silent	DNP	CC	TT	TT			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr6:54804969_54804970CC>TT	uc003pck.3	+	4	1316_1317	c.1200_1201CC>TT	c.(1198-1203)ctcctg>ctTTtg	p.400_401LL>LL		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	400										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGCCATACCTCCTGCTTAATAG	0.441000														34			52		0	0	6.4e-05	0	0
PSMC4	5704	broad.mit.edu	37	19	40480235	40480235	+	Silent	SNP	C	T	T	rs138214626		TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:40480235C>T	uc002omq.3	+	3	394	c.357C>T	c.(355-357)atC>atT	p.I119I	PSMC4_uc002omr.3_Silent_p.I88I	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	119					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)					TGAGCACCATCGATCGGGAGC	0.597000														28			19		0	0	0.00047179	0	0
TG	7038	broad.mit.edu	37	8	134144060	134144060	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr8:134144060G>A	uc003ytw.3	+	45	7908	c.7867G>A	c.(7867-7869)Gag>Aag	p.E2623K	TG_uc010mdw.3_Missense_Mutation_p.E1382K|TG_uc011ljb.2_Missense_Mutation_p.E992K|TG_uc011ljc.2_Missense_Mutation_p.E756K	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2623					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTCAGCCTGGAGCTGCTGGC	0.458000														57			39		0	0	0.00170553	0	0
ZNF711	7552	broad.mit.edu	37	X	84526439	84526439	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chrX:84526439C>T	uc004eeq.3	+	9	2915	c.2029C>T	c.(2029-2031)Cct>Tct	p.P677S	ZNF711_uc004eep.3_Missense_Mutation_p.P631S|ZNF711_uc004eeo.3_Missense_Mutation_p.P631S|ZNF711_uc011mqy.1_Missense_Mutation_p.P230S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	631					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TTTTCATCGTCCTTCTGAGCT	0.403000														0			26		0	0	0.000720815	0	0
NXNL1	115861	broad.mit.edu	37	19	17571378	17571378	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:17571378G>A	uc002ngs.3	-	0	348	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L		NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN	Homo sapiens nucleoredoxin-like 1 (NXNL1), mRNA.	101	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						TCAAAGGGCAGGAAAAGCCAT	0.582000														30			25		0	0	0.00127121	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806585	97806585	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:97806585C>T	uc011bgs.2	+	0	569	c.569C>T	c.(568-570)tCa>tTa	p.S190L		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTCAAAATTTCATGCAATGGT	0.313000														59			25		0	0	0.000720815	0	0
SEC14L4	284904	broad.mit.edu	37	22	30886109	30886109	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr22:30886109G>A	uc003aid.2	-	11	1306	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P	SEC14L4_uc011akz.1_Intron|SEC14L4_uc003aie.2_Silent_p.P387P|SEC14L4_uc003aif.2_3'UTR	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	402						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GTGTTGGGGAGGGTCTCATCG	0.617000														22			15		0	0	0.00074312	0	0
NPR1	4881	broad.mit.edu	37	1	153665653	153665653	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:153665653C>T	uc001fcs.4	+	20	3524	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*	NPR1_uc010pdz.2_Nonsense_Mutation_p.R781*|NPR1_uc010pea.2_Nonsense_Mutation_p.R513*	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	1035					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCTGGAGCTTCGAGGGGATGT	0.562000														76			32		0	0	0.000692331	0	0
NPR3	4883	broad.mit.edu	37	5	32780897	32780897	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:32780897C>T	uc003jhv.3	+	4	1710	c.1265C>T	c.(1264-1266)aCt>aTt	p.T422I	NPR3_uc010iuo.3_Missense_Mutation_p.T206I|NPR3_uc003jhw.2_Missense_Mutation_p.T206I|NPR3_uc003jhu.3_Missense_Mutation_p.T422I	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	422					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ATTGCCATGACTGATGTGGAG	0.557000														70			45		0	0	0.000781405	0	0
ZNF600	162966	broad.mit.edu	37	19	53269225	53269225	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:53269225G>A	uc002qab.4	-	2	2070	c.1784C>T	c.(1783-1785)tCa>tTa	p.S595L	ZNF600_uc021uyz.1_Missense_Mutation_p.S595L	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGCCAGGTATGAATTACGCAC	0.408000														98			72		0	0	0.000781405	0	0
FAM190A	401145	broad.mit.edu	37	4	91645067	91645067	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr4:91645067T>G	uc003hsv.4	+	6	2275	c.1935T>G	c.(1933-1935)agT>agG	p.S645R	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.S645R|FAM190A_uc003hsx.3_Non-coding_Transcript	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	645								p.L644F(1)		NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCTTGCAGAGTGCAGACATGA	0.328000														0			4		0	0	0.00024832	0	0
GPR98	84059	broad.mit.edu	37	5	90040914	90040914	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:90040914C>T	uc003kju.3	+	50	10697	c.10601C>T	c.(10600-10602)tCg>tTg	p.S3534L	GPR98_uc003kjt.3_Missense_Mutation_p.S1240L|GPR98_uc003kjv.3_Missense_Mutation_p.S1134L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3534					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.S3534S(2)		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)		TGCTGGAATTCGGAGCGTAAT	0.388000														343			93		0	0	0.000781405	0	0
TEX30	93081	broad.mit.edu	37	13	103419826	103419826	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr13:103419826G>A	uc001vpo.3	-	4	479	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	TEX30_uc001vpn.3_Missense_Mutation_p.R60C	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	Homo sapiens chromosome 13 open reading frame 27 (C13orf27), mRNA.	101										lung(1)|urinary_tract(1)	2						CCCATTGAACGACCTAAAATC	0.363000														6			17		0	0	0.000958276	0	0
TCERG1	10915	broad.mit.edu	37	5	145826961	145826962	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:145826961_145826962GG>AA	uc003lob.3	+	0	89_90	c.49_50GG>AA	c.(49-51)ggg>AAg	p.G17K	TCERG1_uc003loc.3_Missense_Mutation_p.G17K|TCERG1_uc011dbt.2_Missense_Mutation_p.G17K	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	17					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.P16L(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCAACCCGGGGGAGCTCAGG	0.649000														11			7		0	0	6.4e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					4			68		0	0	0.000781405	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330868	39330868	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:39330868T>G	uc010xun.2	-	4	461	c.224A>C	c.(223-225)cAc>cCc	p.H75P	HNRNPL_uc002ojj.1_Silent_p.P23P|HNRNPL_uc010ege.1_Silent_p.P23P|HNRNPL_uc002ojk.3_Silent_p.P23P|HNRNPL_uc002ojl.3_Silent_p.P23P|HNRNPL_uc021uuh.1_Silent_p.P367P|HNRNPL_uc021uui.1_Silent_p.P234P|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojp.1_Silent_p.P23P			P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 2, mRNA.	367	Gly-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding	p.P367P(1)|p.P234P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGGAGGGGGTGGGGGGTGCC	0.642000														9			3		0	0	0.000157383	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597050	136597050	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr6:136597050A>T	uc003qgx.1	-	4	1866	c.1613T>A	c.(1612-1614)aTa>aAa	p.I538K	BCLAF1_uc003qgy.1_Missense_Mutation_p.I536K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.I536K|BCLAF1_uc003qgw.1_Missense_Mutation_p.I365K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	538					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATCACTCGCTATCATTTTGAT	0.423000														134			31		0	0	0.00178596	0	0
SLC35A5	55032	broad.mit.edu	37	3	112299671	112299671	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:112299671T>C	uc003dze.3	+	5	952	c.707T>C	c.(706-708)aTt>aCt	p.I236T		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	Homo sapiens solute carrier family 35, member A5 (SLC35A5), mRNA.	236						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CATGTTCTTATTATAGTCCAG	0.403000														35			37		0	0	0.000953801	0	0
PPA1	5464	broad.mit.edu	37	10	71990114	71990114	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr10:71990114G>A	uc001jqv.1	-	1	213	c.106C>T	c.(106-108)Cca>Tca	p.P36S		NM_021129	NP_066952	Q15181	IPYR_HUMAN	Homo sapiens pyrophosphatase (inorganic) 1 (PPA1), mRNA.	36					diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						GCATAAATTGGAATATCATGA	0.299000														2			23		0	0	0.000878237	0	0
ZNF643	65243	broad.mit.edu	37	1	40929140	40929140	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:40929140G>A	uc001cfn.2	+	4	1781	c.1484G>A	c.(1483-1485)aGa>aAa	p.R495K	ZNF643_uc001cfl.2_Missense_Mutation_p.R393K|ZNF643_uc001cfm.2_Missense_Mutation_p.R361K	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R393I(1)		large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			AAACATCAGAGAATTCATACT	0.373000														16			32		0	0	0.00178596	0	0
WNK2	65268	broad.mit.edu	37	9	96051722	96051722	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr9:96051722G>A	uc004ati.1	+	19	4797	c.4797G>A	c.(4795-4797)caG>caA	p.Q1599Q	WNK2_uc011lud.1_Silent_p.Q1562Q|WNK2_uc004atj.3_Silent_p.Q1562Q|WNK2_uc004atk.3_Silent_p.Q1199Q|WNK2_uc004atl.1_Silent_p.Q157Q	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1599					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGCTCTACCAGGAGCACGTGC	0.677000														11			21		0	0	0.000878237	0	0
LRPPRC	10128	broad.mit.edu	37	2	44203350	44203350	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:44203350C>T	uc002rtr.2	-	5	727	c.669G>A	c.(667-669)atG>atA	p.M223I	LRPPRC_uc010yob.1_Missense_Mutation_p.M123I|LRPPRC_uc010faw.1_Missense_Mutation_p.M197I	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	223					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCTTAGTTTTCATAAATCCAA	0.393000														203			146		0	0	0.000781405	0	0
CDH11	1009	broad.mit.edu	37	16	64984767	64984767	+	Silent	SNP	C	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr16:64984767C>A	uc002eoi.3	-	11	2231	c.1797G>T	c.(1795-1797)ggG>ggT	p.G599G	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Silent_p.G599G|CDH11_uc010vin.2_Silent_p.G473G	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	599	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G599R(1)|p.N598N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGAGCAGTGCCCCGTTCACGT	0.602000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				23			12		9.31168e-06	3.99527e-05	0.00185496	1	0
KNDC1	85442	broad.mit.edu	37	10	135000066	135000066	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr10:135000066C>T	uc001llz.1	+	5	1215	c.1214C>T	c.(1213-1215)cCa>cTa	p.P405L	KNDC1_uc001lma.1_Missense_Mutation_p.P340L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	405					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)		AGCCAGGGGCCAGCAGAGGCC	0.662000														29			11		0	0	0.000978159	0	0
ZNF804B	219578	broad.mit.edu	37	7	88962967	88962967	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr7:88962967C>T	uc011khi.2	+	3	1209	c.671C>T	c.(670-672)tCc>tTc	p.S224F		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	224						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTACTTTTTCCAAAAAAGTG	0.353000										HNSCC(36;0.09)				33			17		0	0	0.00074312	0	0
ZNF215	7762	broad.mit.edu	37	11	6977392	6977392	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:6977392T>C	uc001mey.3	+	6	1772	c.1184T>C	c.(1183-1185)aTt>aCt	p.I395T	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Missense_Mutation_p.I157T|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	395					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TCATCCCTTATTCGACATCAG	0.383000														41			34		0	0	0.000814825	0	0
TCRA	0	broad.mit.edu	37	14	23000893	23000893	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr14:23000893G>A	uc001wgc.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I	TCRA_uc001wbw.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc001wev.3_Intron|TCRA_uc010tmv.2_Intron|TCRA_uc001wez.2_Intron|TCRA_uc010ajx.1_Intron|TCRA_uc001wfb.2_Intron|TCRA_uc021rqh.1_Intron|TCRA_uc001wfd.1_Intron|TCRA_uc001wfe.3_Intron|TCRA_uc001wfg.2_Intron|TCRA_uc001wfh.1_Intron|TCRA_uc001wfi.2_Intron|TCRA_uc001wfk.3_Intron|TCRA_uc001wfl.3_Intron|TCRA_uc010ajy.2_Intron|TCRA_uc001wfn.3_Intron|TCRA_uc001wfp.3_Intron|TCRA_uc001wfq.2_Intron|TCRA_uc001wfr.1_Intron|TCRA_uc010ajz.1_Intron|TCRA_uc001wfs.2_Intron|TCRA_uc001wft.2_Intron|TCRA_uc001wfu.3_Intron|TCRA_uc001wfv.2_Intron|TCRA_uc001wfw.1_Intron|TCRA_uc001wfx.3_Intron|TCRA_uc001wfy.2_Intron|TCRA_uc001wfz.1_Intron|TCRA_uc021rqn.1_Non-coding_Transcript|TCRA_uc001wgb.3_Non-coding_Transcript|TCRA_uc021rqo.1_5'Flank|TCRA_uc001wge.4_5'Flank|TCRA_uc021rqp.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																		ACTGTGGGATGGATAGCAGCT	0.453000														36			49		0	0	0.000781405	0	0
GSDMB	55876	broad.mit.edu	37	17	38062460	38062460	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:38062460G>A	uc010cwj.3	-	7	923	c.792C>T	c.(790-792)gtC>gtT	p.V264V	GSDMB_uc010cwi.3_Silent_p.V11V|GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Silent_p.V242V|GSDMB_uc002hth.3_Silent_p.V251V|GSDMB_uc010wem.2_Silent_p.V255V	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	259						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GGTCCTTGAGGACACTCTCCA	0.502000														50			35		0	0	0.000814825	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801371	140801371	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:140801371C>T	uc003lkq.2	+	0	835	c.577C>T	c.(577-579)Cca>Tca	p.P193S	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_uc003lko.1_Missense_Mutation_p.P193S|PCDHGC5_uc003lkp.2_Missense_Mutation_p.P193S	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	192	Cadherin 2.				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)			GGCCAAGAATCCAGAGCTAGT	0.567000														8			18		0	0	0.000958276	0	0
VCAN	1462	broad.mit.edu	37	5	82837738	82837738	+	Silent	SNP	A	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:82837738A>C	uc003kii.3	+	7	9272	c.8916A>C	c.(8914-8916)acA>acC	p.T2972T	VCAN_uc003kij.3_Silent_p.T1985T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.T1636T	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2972	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGGTGCTACACAGTGGCCAC	0.483000														34			33		0	0	0.000814825	0	0
CADM4	199731	broad.mit.edu	37	19	44131417	44131417	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:44131417T>A	uc002oxc.1	-	2	314	c.265A>T	c.(265-267)Atc>Ttc	p.I89F		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	89	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GAGAGCCGGATCCGCACCCGG	0.602000														43			17		0	0	0.00121646	0	0
NEU2	4759	broad.mit.edu	37	2	233899088	233899088	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:233899088C>T	uc010zmn.2	+	1	464	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	155							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CGGGAGTGGTCCACCTTTGCA	0.657000														16			9		0	0	0.000673444	0	0
PTEN	5728	broad.mit.edu	37	10	89692839	89692839	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr10:89692839T>C	uc001kfb.3	+	4	1355	c.323T>C	c.(322-324)cTt>cCt	p.L108P	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	108	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.L108R(6)|p.?(5)|p.R55fs*1(5)|p.L108_D109del(4)|p.D107Y(3)|p.Y27_N212>Y(2)|p.Y27fs*1(2)|p.D107A(1)|p.F56fs*2(1)|p.L108P(1)|p.D107N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTGAAGATCTTGACCAATGG	0.373000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				6			56		0	0	0.000781405	0	0
NOTCH2	4853	broad.mit.edu	37	1	120497814	120497814	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:120497814G>A	uc001eik.3	-	12	2365	c.2068C>T	c.(2068-2070)Ccc>Tcc	p.P690S	NOTCH2_uc001eil.3_Missense_Mutation_p.P690S|NOTCH2_uc021osy.1_Missense_Mutation_p.P651S|NOTCH2_uc001eim.4_Missense_Mutation_p.P607S	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	690	EGF-like 18; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCGACAGGGATTGGAGGCA	0.507000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					182			295		0	0	0.000781405	0	0
L1TD1	54596	broad.mit.edu	37	1	62672641	62672641	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:62672641G>A	uc021ooc.1	+	3	776	c.341G>A	c.(340-342)gGg>gAg	p.G114E	L1TD1_uc001dae.4_Missense_Mutation_p.G114E	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	114										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						caaaaaacagggatggtaggg	0.333000														76			80		0	0	0.000781405	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348234	89348234	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr16:89348234G>A	uc002fmx.1	-	8	5177	c.4716C>T	c.(4714-4716)ctC>ctT	p.L1572L	ANKRD11_uc002fmy.1_Silent_p.L1572L|ANKRD11_uc002fnc.1_Silent_p.L1572L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.L1529L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1572	Lys-rich.					nucleus		p.L1572F(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)		CGTCCCCCAGGAGCTTCTCCC	0.577000														22			9		0	0	0.000442599	0	0
TMEM9	252839	broad.mit.edu	37	1	201113056	201113056	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:201113056G>A	uc010ppo.2	-	4	462	c.366C>T	c.(364-366)tcC>tcT	p.S122S	TMEM9_uc001gvx.3_Silent_p.S97S|TMEM9_uc001gvy.3_Silent_p.S97S|TMEM9_uc001gvz.3_Silent_p.S100S|TMEM9_uc001gwa.3_Silent_p.S97S	NM_016456	NP_057540	Q9P0T7	TMEM9_HUMAN	Homo sapiens transmembrane protein 9 (TMEM9), mRNA.	97					transport	integral to membrane|late endosome membrane|lysosomal membrane		p.Y122Y(1)		liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				CACCCACCACGGACAGGTAGA	0.542000														37			5		0	0	0.00116845	0	0
SYBU	55638	broad.mit.edu	37	8	110631220	110631220	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr8:110631220G>A	uc010mcp.3	-	3	640	c.278C>T	c.(277-279)cCc>cTc	p.P93L	SYBU_uc003yni.4_Missense_Mutation_p.P90L|SYBU_uc003ynk.4_5'UTR|SYBU_uc003ynj.4_Missense_Mutation_p.P93L|SYBU_uc010mco.3_Missense_Mutation_p.P92L|SYBU_uc003ynl.4_Missense_Mutation_p.P92L|SYBU_uc010mcq.3_Missense_Mutation_p.P93L|SYBU_uc003yno.4_5'UTR|SYBU_uc010mcr.3_Missense_Mutation_p.P93L|SYBU_uc003ynm.4_Missense_Mutation_p.P92L|SYBU_uc003ynn.4_Missense_Mutation_p.P92L|SYBU_uc010mcs.3_5'UTR|SYBU_uc010mct.3_Missense_Mutation_p.P93L|SYBU_uc010mcu.3_Missense_Mutation_p.P92L|SYBU_uc003ynp.4_Missense_Mutation_p.P25L|SYBU_uc010mcv.3_Missense_Mutation_p.P93L	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	93	Ser-rich.|Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AGCATCTGAGGGTGTCTTCAC	0.463000														112			24		0	0	0.00047179	0	0
STAT4	6775	broad.mit.edu	37	2	191941042	191941042	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:191941042G>A	uc002usm.2	-	3	598	c.283C>T	c.(283-285)Cat>Tat	p.H95Y	STAT4_uc002usn.2_Missense_Mutation_p.H95Y|STAT4_uc002uso.2_Missense_Mutation_p.H95Y|STAT4_uc002usp.4_Missense_Mutation_p.H95Y	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	95					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGATTTCCATGAAATTTTCCC	0.328000														63			48		0	0	0.000781405	0	0
KCNH7	90134	broad.mit.edu	37	2	163292066	163292066	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:163292066G>A	uc002uch.2	-	7	1825	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	KCNH7_uc002uci.3_Silent_p.L525L	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	532					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCACAAGACGGAGGAGTCGGG	0.443000														34			29		0	0	0.00178596	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117424487	117424487	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr7:117424487G>A	uc003vjf.3	-	4	2182	c.2090C>T	c.(2089-2091)cCt>cTt	p.P697L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	697								p.T696P(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CATTAGCAAAGGGGTTAGGGA	0.507000														5			90		0	0	0.000781405	0	0
OR4C3	256144	broad.mit.edu	37	11	48347057	48347057	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:48347057C>T	uc010rhv.2	+	0	565	c.565C>T	c.(565-567)Ctt>Ttt	p.L189F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCTCCTGGTCCTTTGGTTGCC	0.517000														96			9		0	0	0.00229938	0	0
ALKBH2	121642	broad.mit.edu	37	12	109527892	109527892	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:109527892C>T	uc001tnx.2	-	2	794	c.401G>A	c.(400-402)tGg>tAg	p.W134*	ALKBH2_uc001tny.2_Nonsense_Mutation_p.W134*|ALKBH2_uc010sxj.1_Nonsense_Mutation_p.W134*|ALKBH2_uc009zvd.2_Intron|ALKBH2_uc010sxk.1_Intron	NM_001145374	NP_001138847	Q6NS38	ALKB2_HUMAN	Homo sapiens alkB, alkylation repair homolog 2 (E. coli) (ALKBH2), transcript variant 1, mRNA.	134					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	DNA-N1-methyladenine dioxygenase activity|cytosine C-5 DNA demethylase activity|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	AACTGGGATCCAGGGCTTTGG	0.557000								Direct reversal of damage						42			22		0	0	0.00152264	0	0
TMEM56	148534	broad.mit.edu	37	1	95609521	95609521	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:95609521C>T	uc021oqe.1	+	1	440	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F	TMEM56_uc001drd.4_Missense_Mutation_p.L22F|TMEM56_uc001drb.3_Missense_Mutation_p.L22F	NM_001199679	NP_001186608	Q96MV1	TMM56_HUMAN	Homo sapiens transmembrane protein 56 (TMEM56), transcript variant 1, mRNA.	22						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CTTTCAGCTTCTTTTCTACTT	0.348000														47			20		0	0	0.00188189	0	0
KDM3A	55818	broad.mit.edu	37	2	86711207	86711207	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:86711207T>C	uc002sri.4	+	18	3347	c.3020T>C	c.(3019-3021)gTt>gCt	p.V1007A	KDM3A_uc010ytj.2_Missense_Mutation_p.V1007A|KDM3A_uc010ytk.2_Missense_Mutation_p.V955A	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	1007					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTAGACCTAGTTAATTGTAGG	0.418000														45			36		0	0	0.000814825	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40293202	40293202	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:40293202C>T	uc001zkm.1	+	20	2986	c.2936C>T	c.(2935-2937)tCc>tTc	p.S979F	EIF2AK4_uc010bbj.1_Missense_Mutation_p.S680F|EIF2AK4_uc001zkn.1_Missense_Mutation_p.S79F|EIF2AK4_uc001zko.1_5'Flank	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	979	Protein kinase 2.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TCAGTCATCTCCTGGCTGTTG	0.517000														143			93		0	0	0.000781405	0	0
ABCG2	9429	broad.mit.edu	37	4	89034569	89034569	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr4:89034569C>T	uc003hrg.3	-	8	1573	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	ABCG2_uc003hrh.3_Silent_p.K360K|ABCG2_uc003hrf.3_Silent_p.K228K	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	360					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	AGACTGTGATCTTCTTCTTCT	0.433000														52			71		0	0	0.000781405	0	0
SPEF2	79925	broad.mit.edu	37	5	35654808	35654808	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:35654808A>C	uc003jjo.3	+	6	1069	c.958A>C	c.(958-960)Ata>Cta	p.I320L	SPEF2_uc003jjn.1_Missense_Mutation_p.I320L|SPEF2_uc003jjq.4_Missense_Mutation_p.I320L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	320					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGACCAGTTAATAGCCCACGA	0.378000														20			14		0	0	0.000566183	0	0
NLGN1	22871	broad.mit.edu	37	3	173998987	173998987	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:173998987C>T	uc021xhm.1	+	6	2806	c.2486C>T	c.(2485-2487)cCa>cTa	p.P829L	NLGN1_uc003fio.1_Missense_Mutation_p.P789L|NLGN1_uc003fip.1_Missense_Mutation_p.P789L	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	806					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AACACTATACCAGGGATTCAG	0.483000														29			35		0	0	0.00283554	0	0
EPHA8	2046	broad.mit.edu	37	1	22927916	22927916	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:22927916C>T	uc001bfx.1	+	15	2978	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	951	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGACCACTTCGCTGCGGGCG	0.701000														31			16		0	0	0.000958276	0	0
FHOD3	80206	broad.mit.edu	37	18	34289066	34289066	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr18:34289066G>T	uc021uiv.1	+	17	2342	c.2245G>T	c.(2245-2247)Ggg>Tgg	p.G749W	FHOD3_uc002kzr.1_Missense_Mutation_p.G557W|FHOD3_uc002kzs.1_Missense_Mutation_p.G574W|FHOD3_uc002kzt.1_Missense_Mutation_p.G557W|FHOD3_uc010dmz.1_Missense_Mutation_p.G289W|FHOD3_uc010dna.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	557					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGCAAGTGCCGGGGATCCTGA	0.542000														128			5		0.00198382	0.00836871	0.00198382	1	0
OR4M1	441670	broad.mit.edu	37	14	20248980	20248980	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr14:20248980C>T	uc010tku.2	+	0	499	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTCGACTTCCTTTCTGTGG	0.488000														163			86		0	0	0.000781405	0	0
FAM129C	199786	broad.mit.edu	37	19	17648261	17648261	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:17648261C>T	uc021uqj.1	+	5	735	c.597C>T	c.(595-597)ttC>ttT	p.F199F	FAM129C_uc021uqi.1_Silent_p.F199F|FAM129C_uc010xps.2_Silent_p.F168F|FAM129C_uc010xpt.2_Non-coding_Transcript|FAM129C_uc002ngy.4_5'Flank|FAM129C_uc010xpu.2_5'Flank|FAM129C_uc002ngz.4_5'Flank|FAM129C_uc010eaw.3_5'Flank|FAM129C_uc002nhb.3_5'Flank	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	199										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						AGCACCCCTTCCGCCGGCACC	0.617000														69			51		0	0	0.000781405	0	0
TMC1	117531	broad.mit.edu	37	9	75403334	75403334	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr9:75403334G>A	uc004aiz.1	+	13	1504	c.964G>A	c.(964-966)Gac>Aac	p.D322N	TMC1_uc010moz.1_Missense_Mutation_p.D280N|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.D176N|TMC1_uc010mpa.1_Missense_Mutation_p.D176N	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	322					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TACCAGCTGGGACTACCTGAT	0.398000														37			27		0	0	0.00106085	0	0
GLT6D1	360203	broad.mit.edu	37	9	138517996	138517996	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr9:138517996C>T	uc010nbd.1	-	3	430	c.176G>A	c.(175-177)gGg>gAg	p.G59E		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	59					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GTCGAAAGTCCCTTCCCATAG	0.507000														29			23		0	0	0.000586117	0	0
TTLL12	23170	broad.mit.edu	37	22	43579110	43579110	+	Missense_Mutation	SNP	C	T	T	rs143398079		TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr22:43579110C>T	uc003bdq.3	-	1	285	c.223G>A	c.(223-225)Gta>Ata	p.V75I		NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	75					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TCCTCTTCTACCTCCTCCACT	0.637000														79			55		0	0	0.000781405	0	0
C5orf24	134553	broad.mit.edu	37	5	134190754	134190754	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:134190754G>A	uc003kzx.3	+	1	225	c.164G>A	c.(163-165)aGg>aAg	p.R55K	C5orf24_uc003kzy.4_Missense_Mutation_p.R55K|C5orf24_uc003kzz.3_Missense_Mutation_p.R55K|C5orf24_uc021yds.1_Missense_Mutation_p.R55K	NM_152409	NP_689622	Q7Z6I8	CE024_HUMAN	Homo sapiens chromosome 5 open reading frame 24 (C5orf24), transcript variant 2, mRNA.	55								p.Q54H(1)		breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTGTCAGAGGCAAGACCCA	0.403000														88			39		0	0	0.00170553	0	0
MYH7B	57644	broad.mit.edu	37	20	33583241	33583241	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr20:33583241G>A	uc002xbi.2	+	27	3246	c.2929G>A	c.(2929-2931)Gat>Aat	p.D977N		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	935						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCGGCTGGAGGATGAGGAGGA	0.617000														7			6		0	0	0.00116845	0	0
TMEM41B	440026	broad.mit.edu	37	11	9310040	9310040	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:9310040T>C	uc001mhm.3	-	3	738	c.411A>G	c.(409-411)atA>atG	p.I137M	TMEM41B_uc001mhn.2_Missense_Mutation_p.I137M	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.	137						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		ACCCTGAGAGTATACTGAGAA	0.294000														32			34		0	0	0.000953801	0	0
ZNF528	84436	broad.mit.edu	37	19	52909821	52909821	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:52909821C>T	uc002pzh.3	+	5	622	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	ZNF528_uc002pzi.3_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P66S(2)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AAAGAGAGATCCCTGGACTCT	0.473000														37			39		0	0	0.0025221	0	0
GNL3	26354	broad.mit.edu	37	3	52727560	52727560	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:52727560G>A	uc003dfd.3	+	12	1497	c.1324_splice	c.e12+1	p.A442_splice	GNL3_uc003dfe.3_Splice_Site_p.A430_splice|GNL3_uc003dff.3_Splice_Site_p.A430_splice	NM_014366	NP_996562	Q9BVP2	GNL3_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar) (GNL3), transcript variant 1, mRNA.	442	Intermediate (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GAGCATAAGAGGTGAGAATTG	0.468000														67			24		0	0	0.00278032	0	0
REV1	51455	broad.mit.edu	37	2	100058829	100058829	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:100058829C>T	uc002tad.3	-	4	665	c.453G>A	c.(451-453)gaG>gaA	p.E151E	REV1_uc002tac.3_Silent_p.E151E|REV1_uc002tae.1_Silent_p.E130E	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	151					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGAGGATCCTCAGGTCTGC	0.458000								Direct reversal of damage						38			35		0	0	0.000814825	0	0
ANO4	121601	broad.mit.edu	37	12	101520688	101520688	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:101520688C>T	uc010svm.1	+	26	3280	c.2708C>T	c.(2707-2709)tCa>tTa	p.S903L	ANO4_uc001thw.2_Missense_Mutation_p.S868L|ANO4_uc001thx.2_Missense_Mutation_p.S903L|ANO4_uc001thy.2_Missense_Mutation_p.S423L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	903						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CACCTCATTTCATATCTGATC	0.443000										HNSCC(74;0.22)				18			9		0	0	0.000274275	0	0
RAD23A	5886	broad.mit.edu	37	19	13063580	13063580	+	Silent	SNP	G	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:13063580G>T	uc002mvw.1	+	7	1000	c.891G>T	c.(889-891)gtG>gtT	p.V297V	RAD23A_uc002mvz.1_Silent_p.V296V|RAD23A_uc010xmw.1_Silent_p.V132V	NM_005053	NP_005044	P54725	RD23A_HUMAN	Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA.	297					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TCTCAGATGTGGAGGGGGAGG	0.617000								Nucleotide excision repair (NER)						59			20		1.55795e-14	6.78112e-14	0.00188189	1	0
NUAK1	9891	broad.mit.edu	37	12	106461156	106461156	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:106461156C>T	uc001tlj.1	-	6	2790	c.1410G>A	c.(1408-1410)aaG>aaA	p.K470K		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	470							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCTGCTGGGTCTTTTTCAAGA	0.572000														18			25		0	0	0.000586117	0	0
OR1J2	26740	broad.mit.edu	37	9	125273649	125273649	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr9:125273649C>T	uc011lyv.2	+	0	569	c.569C>T	c.(568-570)tCa>tTa	p.S190L	OR1J2_uc004bmj.2_Missense_Mutation_p.S190L	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTGTCCTGCTCAGATATCTTC	0.532000														37			44		0	0	0.000680045	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994617	140994617	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chrX:140994617C>T	uc004fbt.3	+	3	1751	c.1427C>T	c.(1426-1428)tCt>tTt	p.S476F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S135F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	476							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCCCAGTCTCCTCTCCAG	0.468000										HNSCC(15;0.026)				11			101		0	0	0.000781405	0	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127550	32127550	+	Silent	SNP	A	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr21:32127550A>G	uc011adi.2	-	0	147	c.147T>C	c.(145-147)ggT>ggC	p.G49G		NM_181619	NP_853650	Q3LI58	KR211_HUMAN	Homo sapiens keratin associated protein 21-1 (KRTAP21-1), mRNA.	49						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						cagttccataaccacagccat	0.527000														78			54		0	0	0.000781405	0	0
GRK7	131890	broad.mit.edu	37	3	141497499	141497499	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:141497499T>G	uc011bnd.2	+	0	457	c.373T>G	c.(373-375)Ttc>Gtc	p.F125V		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	125	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCCGCAACCCTTCCTCAGCCA	0.667000														12			14		0	0	0.00185496	0	0
COG6	57511	broad.mit.edu	37	13	40251631	40251631	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr13:40251631T>C	uc001uxh.2	+	4	555	c.455T>C	c.(454-456)gTt>gCt	p.V152A	COG6_uc001uxi.2_Missense_Mutation_p.V100A|COG6_uc010acb.2_Missense_Mutation_p.V152A	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	152					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		AGAGCTCAAGTTGCAGATGCC	0.373000														29			16		0	0	0.000308642	0	0
GRTP1	79774	broad.mit.edu	37	13	113999256	113999256	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr13:113999256C>T	uc010tkc.2	-	4	581	c.484G>A	c.(484-486)Gga>Aga	p.G162R	GRTP1_uc001vtn.3_Missense_Mutation_p.G162R|GRTP1_uc010tkb.2_Missense_Mutation_p.G84R	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	Homo sapiens growth hormone regulated TBC protein 1 (GRTP1), mRNA.	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ATCAGATATCCTGCTATAAAA	0.338000														32			40		0	0	0.00148497	0	0
HAO2	51179	broad.mit.edu	37	1	119923791	119923791	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:119923791G>A	uc001ehr.1	+	1	215	c.83G>A	c.(82-84)gGa>gAa	p.G28E	HAO2_uc001ehq.1_Missense_Mutation_p.G28E	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	28	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ATTGAAGGTGGAGCAGATGAC	0.483000														75			36		0	0	0.000692331	0	0
TPTE	7179	broad.mit.edu	37	21	10951367	10951367	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr21:10951367G>A	uc002yip.1	-	9	713	c.345C>T	c.(343-345)ttC>ttT	p.F115F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.F97F|TPTE_uc002yir.1_Silent_p.F77F|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	115					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCTGTCAGTGAAAATTAGGT	0.313000														108			49		0	0	0.000781405	0	0
VSIG8	391123	broad.mit.edu	37	1	159827671	159827671	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:159827671G>A	uc001fuh.3	-	3	652	c.516C>T	c.(514-516)ggC>ggT	p.G172G	VSIG8_uc001fug.1_5'Flank	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 8 (VSIG8), mRNA.	172	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					GGGGCTGGGAGCCCCCACTGG	0.587000														14			41		0	0	0.00285205	0	0
TTN	7273	broad.mit.edu	37	2	179477898	179477898	+	Silent	SNP	C	T	T	rs7355450		TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:179477898C>T	uc021vsy.1	-	212	42159	c.41934G>A	c.(41932-41934)aaG>aaA	p.K13978K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K7673K|TTN_uc021vta.1_Silent_p.K7606K|TTN_uc021vtb.1_Silent_p.K7481K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14905	Ig-like 95.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P13978P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATGGGATCCTTTATTAAGA	0.333000														27			22		0	0	0.00152264	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140201883	140201883	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:140201883G>A	uc003lhl.2	+	0	523	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.E175K|PCDHAC2_uc003lhj.1_Missense_Mutation_p.E175K	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	191	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATCCAAACGAATATTTTGA	0.388000														7			36		0	0	0.00283554	0	0
TRAF5	7188	broad.mit.edu	37	1	211545968	211545968	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:211545968C>T	uc010psx.2	+	10	1716	c.1631C>T	c.(1630-1632)gCc>gTc	p.A544V	TRAF5_uc001hih.3_Missense_Mutation_p.A533V|TRAF5_uc001hii.3_Missense_Mutation_p.A533V|TRAF5_uc010psy.2_Missense_Mutation_p.A427V|TRAF5_uc001hij.3_Missense_Mutation_p.A533V	NM_001033910	NP_665702	O00463	TRAF5_HUMAN	Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA.	533	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTGGAGAATGCCAAGAACGCC	0.473000														82			26		0	0	0.00047179	0	0
PTPRT	11122	broad.mit.edu	37	20	40757431	40757431	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr20:40757431T>G	uc002xkg.3	-	18	2994	c.2810A>C	c.(2809-2811)gAc>gCc	p.D937A	PTPRT_uc010ggj.3_Missense_Mutation_p.D956A|PTPRT_uc010ggi.3_Missense_Mutation_p.D140A	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	937	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGAGTGCGGGTCTCCATCCAG	0.537000														37			25		0	0	0.000586117	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542936	133542936	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:133542936G>A	uc002ttp.3	-	13	1822	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	483							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCTAAGGTGGAAGGGTCATC	0.527000														63			60		0	0	0.000781405	0	0
RP1	6101	broad.mit.edu	37	8	55538985	55538985	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr8:55538985G>A	uc003xsd.1	+	3	2691	c.2543G>A	c.(2542-2544)aGa>aAa	p.R848K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	848					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.L847F(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGGTATTTGAGAGGAATGGCA	0.348000														31			28		0	0	0.00127121	0	0
SYTL3	94120	broad.mit.edu	37	6	159086619	159086619	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr6:159086619G>A	uc003qrp.3	+	5	702	c.303G>A	c.(301-303)tgG>tgA	p.W101*	SYTL3_uc003qrr.3_Nonsense_Mutation_p.W101*|SYTL3_uc003qro.3_Nonsense_Mutation_p.W101*|SYTL3_uc003qrs.3_Nonsense_Mutation_p.W101*|SYTL3_uc011efq.2_5'UTR	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	101	RabBD.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CCCATGCCTGGAAGTGCACGG	0.642000														1			3		0	0	0.00024832	0	0
EML5	161436	broad.mit.edu	37	14	89131701	89131701	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr14:89131701G>A	uc021ryf.1	-	21	3506	c.3257C>T	c.(3256-3258)tCa>tTa	p.S1086L	EML5_uc001xxf.3_5'UTR|EML5_uc021ryg.1_Missense_Mutation_p.S1086L|EML5_uc001xxh.1_Missense_Mutation_p.S225L	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1086						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCGAATATCTGAAATCATATC	0.338000														11			17		0	0	0.00074312	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049478	69049478	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:69049478G>C	uc010fdg.3	+	9	1626	c.1207G>C	c.(1207-1209)Gac>Cac	p.D403H	ARHGAP25_uc010yql.2_Missense_Mutation_p.D363H|ARHGAP25_uc002sew.3_Missense_Mutation_p.D395H|ARHGAP25_uc002sex.3_Missense_Mutation_p.D396H	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	402					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTAGACAAGCGACTCTGATAC	0.507000														91			46		0	0	0.000781405	0	0
ZNF750	79755	broad.mit.edu	37	17	80788605	80788605	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:80788605C>T	uc002kga.3	-	2	1896	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	529						intracellular	zinc ion binding	p.E529K(4)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TACGTGGGTTCGTGGGTGGCT	0.617000														37			38		0	0	0.00170553	0	0
KRT25	147183	broad.mit.edu	37	17	38906748	38906748	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:38906748G>A	uc002hve.3	-	5	1120	c.1059C>T	c.(1057-1059)caC>caT	p.H353H		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	353	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTCTGACCTGGTGCAGCTGCT	0.572000														112			93		0	0	0.000781405	0	0
DERA	51071	broad.mit.edu	37	12	16185524	16185524	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:16185524C>T	uc001rde.3	+	6	818	c.686C>T	c.(685-687)aCc>aTc	p.T229I	DERA_uc010shx.1_Missense_Mutation_p.T141I	NM_015954	NP_057038	Q9Y315	DEOC_HUMAN	Homo sapiens deoxyribose-phosphate aldolase (putative) (DERA), mRNA.	229					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				GTAAATGCCACCTTCCCGGTA	0.343000														4			5		0	0	0.000157383	0	0
SETBP1	26040	broad.mit.edu	37	18	42530952	42530952	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr18:42530952C>T	uc010dni.3	+	3	1943	c.1647C>T	c.(1645-1647)gcC>gcT	p.A549A		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	549						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAGTTATGGCCACCTCTGATA	0.507000									Schinzel-Giedion syndrome					95			47		0	0	0.000781405	0	0
PCYT1A	5130	broad.mit.edu	37	3	195984731	195984731	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:195984731C>T	uc003fwg.3	-	3	318	c.145G>A	c.(145-147)Gat>Aat	p.D49N	PCYT1A_uc003fwh.3_Missense_Mutation_p.D49N	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	49						cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	TCAATTTCATCAGAAAAAGGA	0.363000														28			14		0	0	0.000308642	0	0
DDX41	51428	broad.mit.edu	37	5	176940758	176940758	+	Silent	SNP	G	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:176940758G>C	uc003mho.3	-	9	1047	c.1026C>G	c.(1024-1026)gcC>gcG	p.A342A	DDX41_uc003mhn.3_Silent_p.A211A|DDX41_uc003mhp.3_Silent_p.A211A|DDX41_uc003mhq.1_Silent_p.A122A	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	342	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCTCGTCCAGGGCCAGGTAGC	0.627000														57			9		0	0	0.000673444	0	0
OR1D2	4991	broad.mit.edu	37	17	2995982	2995982	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:2995982G>A	uc010vrb.2	-	0	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	103					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.Y102*(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						AGGAGACCAGGAAGTAGAGCT	0.542000														77			80		0	0	0.000781405	0	0
PKD1L2	114780	broad.mit.edu	37	16	81249940	81249941	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr16:81249940_81249941GG>AA	uc002fgh.1	-	1	372_373	c.372_373CC>TT	c.(370-375)gcccct>gcTTct	p.P125S	PKD1L2_uc002fgj.3_Missense_Mutation_p.P125S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	125	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGGTGTCAGGGGCAGCGGCGG	0.649000														31			13		0	0	6.4e-05	0	0
NEB	4703	broad.mit.edu	37	2	152507246	152507246	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:152507246A>T	uc021vrb.1	-	50	7098	c.7069T>A	c.(7069-7071)Ttc>Atc	p.F2357I	NEB_uc002txu.3_Missense_Mutation_p.F2357I|NEB_uc021vrc.1_Missense_Mutation_p.F2357I|NEB_uc010fnx.3_Missense_Mutation_p.F2357I|NEB_uc021vrd.1_Missense_Mutation_p.F2357I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2357					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGCTGGAGAACTTAGTTTTC	0.458000														219			190		0	0	0.000781405	0	0
STAB1	23166	broad.mit.edu	37	3	52549479	52549479	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:52549479C>T	uc003dej.3	+	36	3979	c.3905C>T	c.(3904-3906)tCc>tTc	p.S1302F		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1302					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTGGCTTCTCCTTCTCCCGG	0.617000														30			13		0	0	0.000308642	0	0
OAS3	4940	broad.mit.edu	37	12	113398967	113398967	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:113398967C>T	uc001tug.3	+	7	1836	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	583	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity	p.F583F(2)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGGCCTGCTTCGCAGAGCTGC	0.582000														16			12		0	0	0.00185496	0	0
PTPRD	5789	broad.mit.edu	37	9	8338947	8338947	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr9:8338947C>T	uc003zkk.3	-	42	6097	c.5354G>A	c.(5353-5355)aGg>aAg	p.R1785K	PTPRD_uc003zkp.3_Missense_Mutation_p.R1379K|PTPRD_uc003zkq.3_Missense_Mutation_p.R1378K|PTPRD_uc003zkr.3_Missense_Mutation_p.R1369K|PTPRD_uc003zks.3_Missense_Mutation_p.R1378K|PTPRD_uc022bdj.1_Missense_Mutation_p.R1375K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1785	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L1784I(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTGAATTCCCTTAGGATATA	0.448000										TSP Lung(15;0.13)				10			57		0	0	0.000781405	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	Missense_Mutation	SNP	T	C	C	rs147293416	by1000genomes	TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr7:72658179T>C	uc003txs.1	-	12	1733	c.805A>G	c.(805-807)Aaa>Gaa	p.K269E	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		cagagtgatttcggatgaatt	0.507000														5			3		0	0	0.00024832	0	0
PLCH2	9651	broad.mit.edu	37	1	2410049	2410049	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:2410049G>A	uc001aji.1	+	1	533	c.259G>A	c.(259-261)Gag>Aag	p.E87K	PLCH2_uc010nyz.2_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	87	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACGCAAGAACGAGAAGGCCAA	0.652000														5			5		0	0	0.00198382	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141683	133141683	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr8:133141683A>T	uc003ytj.3	-	14	2670	c.2445T>A	c.(2443-2445)gaT>gaA	p.D815E	KCNQ3_uc003yti.3_Missense_Mutation_p.D695E|KCNQ3_uc010mdt.3_Missense_Mutation_p.D803E	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	815					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CGAACACATAATCATCTCTGT	0.607000														29			18		0	0	0.00121646	0	0
EIF5B	9669	broad.mit.edu	37	2	99988138	99988138	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:99988138G>A	uc002tab.3	+	8	1681	c.1497G>A	c.(1495-1497)gaG>gaA	p.E499E		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	499					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGATACTGAGGATGCTGGAT	0.338000														22			16		0	0	0.00152264	0	0
USPL1	10208	broad.mit.edu	37	13	31232917	31232917	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr13:31232917G>A	uc001utc.2	+	8	3135	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K	USPL1_uc001utd.2_Silent_p.K572K|USPL1_uc001ute.1_Silent_p.K572K	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	901					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CAGAAAAGAAGAAATTAGCTG	0.408000														36			10		0	0	0.000442599	0	0
NKD2	85409	broad.mit.edu	37	5	1034434	1034434	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:1034434G>A	uc003jbt.1	+	5	420	c.415G>A	c.(415-417)Gtc>Atc	p.V139I	NKD2_uc010itf.1_Missense_Mutation_p.V139I	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	139	EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity).|Targeting to the basolateral cell membrane.				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.K138R(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CTGCGGGAAGGTCACCAGGGA	0.612000														15			13		0	0	0.000308642	0	0
LRRN2	10446	broad.mit.edu	37	1	204588493	204588493	+	Missense_Mutation	SNP	G	A	A	rs141989916	byFrequency	TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:204588493G>A	uc021phy.1	-	0	628	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.R210W|LRRN2_uc001hbf.1_Missense_Mutation_p.R210W|LRRN2_uc009xbf.1_Missense_Mutation_p.R210W|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	210					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCCAGGGGCCGGAAGTTCATG	0.587000														55			38		0	0	0.00222228	0	0
NEB	4703	broad.mit.edu	37	2	152525626	152525626	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:152525626C>T	uc021vrb.1	-	36	4555	c.4526G>A	c.(4525-4527)gGa>gAa	p.G1509E	NEB_uc002txu.3_Missense_Mutation_p.G1509E|NEB_uc021vrc.1_Missense_Mutation_p.G1509E|NEB_uc010fnx.3_Missense_Mutation_p.G1509E|NEB_uc021vrd.1_Missense_Mutation_p.G1509E	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1509					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGTTTCTCTCCCTCTACCTT	0.398000														9			3		0	0	6.4e-05	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128418	68128418	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:68128418A>C	uc002jiq.3	+	2	426	c.286A>C	c.(286-288)Act>Cct	p.T96P	KCNJ16_uc002jin.3_Missense_Mutation_p.T64P|KCNJ16_uc002jio.3_Missense_Mutation_p.T64P|KCNJ16_uc002jip.3_Missense_Mutation_p.T64P|KCNJ16_uc021uch.1_Missense_Mutation_p.T64P	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	64					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CATCTTCACCACTCTTGTGGA	0.408000														57			35		0	0	0.00058488	0	0
TRPS1	7227	broad.mit.edu	37	8	116616406	116616406	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr8:116616406G>A	uc003yny.3	-	3	2368	c.1790C>T	c.(1789-1791)cCg>cTg	p.P597L	TRPS1_uc011lhy.2_Missense_Mutation_p.P588L|TRPS1_uc003ynz.3_Missense_Mutation_p.P584L|TRPS1_uc010mcy.3_Missense_Mutation_p.P584L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	584					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P584L(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACAAGCAAACGGATAAGTAAT	0.468000									Langer-Giedion syndrome					66			20		0	0	0.00152264	0	0
AGA	175	broad.mit.edu	37	4	178352882	178352882	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr4:178352882C>T	uc003iuu.2	-	8	1149	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	AGA_uc010irt.2_Non-coding_Transcript|AGA_uc003iuw.3_Missense_Mutation_p.E331K|AGA_uc003iuv.2_Non-coding_Transcript	NM_000027	NP_000018	P20933	ASPG_HUMAN	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.	341					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TCCACTTTTTCCTCAGTTGGC	0.368000														12			16		0	0	0.000566183	0	0
FAM129B	64855	broad.mit.edu	37	9	130269197	130269197	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr9:130269197A>T	uc004brh.3	-	13	2370	c.2168T>A	c.(2167-2169)gTg>gAg	p.V723E	FAM129B_uc004bri.3_Missense_Mutation_p.V710E|FAM129B_uc004brj.4_3'UTR	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	723							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGGGCTGGACACCTGCTCTCC	0.672000														50			31		0	0	0.00283554	0	0
OR4X1	390113	broad.mit.edu	37	11	48286316	48286316	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:48286316G>A	uc010rht.2	+	0	904	c.904G>A	c.(904-906)Gga>Aga	p.G302R		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G302E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ATTTATTGGGGGAAAAGTAAT	0.398000														24			14		0	0	0.00185496	0	0
TINF2	26277	broad.mit.edu	37	14	24709293	24709293	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr14:24709293C>T	uc001woa.4	-	7	1540	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	TINF2_uc010alm.3_3'UTR|TINF2_uc001wob.4_3'UTR|TINF2_uc010tof.2_Missense_Mutation_p.E365K|TINF2_uc001woc.4_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	400					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TGGCCATTTTCTTCCTCATCA	0.488000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome					185			57		0	0	0.000781405	0	0
ZMYM2	7750	broad.mit.edu	37	13	20641482	20641482	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr13:20641482G>T	uc001umr.3	+	21	3703	c.3405G>T	c.(3403-3405)gaG>gaT	p.E1135D	ZMYM2_uc001ums.3_Missense_Mutation_p.E1135D|ZMYM2_uc021rgy.1_Missense_Mutation_p.E1135D|ZMYM2_uc001umt.3_Missense_Mutation_p.E1135D|ZMYM2_uc001umv.3_Missense_Mutation_p.E515D|ZMYM2_uc001umw.3_Missense_Mutation_p.E588D	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	1135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAAATGGAGAGAATTATGCAC	0.388000														12			7		8.12818e-05	0.000346772	0.00198382	1	0
TNNC2	7125	broad.mit.edu	37	20	44452684	44452684	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr20:44452684C>T	uc002xpr.3	-	4	463	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_003279	NP_003270	P02585	TNNC2_HUMAN	Homo sapiens troponin C type 2 (fast) (TNNC2), mRNA.	133	EF-hand 4.				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				ATCAGAGATTCGATCTCCTCG	0.612000														58			57		0	0	0.000781405	0	0
BDKRB1	623	broad.mit.edu	37	14	96730324	96730324	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr14:96730324A>G	uc021sbj.1	+	0	305	c.305A>G	c.(304-306)aAc>aGc	p.N102S	BDKRB1_uc001yfh.3_Missense_Mutation_p.N102S	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	102					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	p.F101I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		AACCAGTTTAACTGGCCTTTC	0.552000														24			30		0	0	0.00209593	0	0
MACF1	23499	broad.mit.edu	37	1	39835860	39835860	+	Splice_Site	SNP	T	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:39835860T>C	uc021olw.1	+	15	8415	c.8415_splice	c.e15+2	p.K2805_splice	MACF1_uc021ols.1_Splice_Site_p.K2303_splice|MACF1_uc001cdc.2_Splice_Site_p.K2303_splice|MACF1_uc021olt.1_Splice_Site_p.K2303_splice|MACF1_uc001cda.1_Splice_Site_p.K2211_splice|MACF1_uc001cdb.1_Splice_Site_p.K1390_splice	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4370					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACCTGAAGGTAGGTGAACAA	0.428000														6			10		0	0	0.000442599	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186092	127186092	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chrX:127186092G>A	uc004eum.3	-	0	291	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	32						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATGACATGGCGGGGTCCAATC	0.448000														7			44		0	0	0.0025221	0	0
MYL9	10398	broad.mit.edu	37	20	35177484	35177484	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr20:35177484C>T	uc002xfl.1	+	3	445	c.351C>T	c.(349-351)ttC>ttT	p.F117F	BC039668_uc002xfk.3_Intron|MYL9_uc002xfm.1_Silent_p.F63F	NM_006097	NP_006088	P24844	MYL9_HUMAN	Homo sapiens myosin, light chain 9, regulatory (MYL9), transcript variant 1, mRNA.	117	EF-hand 2.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCGCAGGTTTCATCCATGAGG	0.602000														20			26		0	0	0.00178596	0	0
C4orf27	54969	broad.mit.edu	37	4	170650819	170650819	+	Silent	SNP	A	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr4:170650819A>G	uc003isl.4	-	7	1016	c.951T>C	c.(949-951)taT>taC	p.Y317Y		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	Homo sapiens chromosome 4 open reading frame 27 (C4orf27), mRNA.	317						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TCAACAGATTATATGCAAGAG	0.358000														39			20		0	0	0.000958276	0	0
GYPE	2996	broad.mit.edu	37	4	144797993	144797993	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr4:144797993T>C	uc003ijj.3	-	2	208	c.152A>G	c.(151-153)aAt>aGt	p.N51S	GYPE_uc003ijk.4_Missense_Mutation_p.N51S	NM_198682	NP_941391	P15421	GLPE_HUMAN	Homo sapiens glycophorin E (MNS blood group) (GYPE), transcript variant 2, mRNA.	51						integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CGCCCACCAATTAATGAGTGT	0.358000														11			12		0	0	0.00136819	0	0
FAM129B	64855	broad.mit.edu	37	9	130270444	130270444	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr9:130270444C>T	uc004brh.3	-	11	1672	c.1470G>A	c.(1468-1470)agG>agA	p.R490R	FAM129B_uc004bri.3_Silent_p.R477R|FAM129B_uc004brj.4_Silent_p.R490R	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	490							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCCGGAAGAACCTCTTCCGCA	0.627000														28			31		0	0	0.00058488	0	0
HIPK1	204851	broad.mit.edu	37	1	114483004	114483004	+	Splice_Site	SNP	G	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:114483004G>T	uc001eem.3	+	2	160	c.-1_splice	c.e2-1		HIPK1_uc001eel.3_Splice_Site|HIPK1_uc001een.3_Splice_Site	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	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)		CTCAATATAGGTATGGCATCA	0.423000														95			32		2.61193e-14	1.13359e-13	0.00178596	1	0
TRIOBP	11078	broad.mit.edu	37	22	38120387	38120387	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr22:38120387C>T	uc003atr.3	+	6	2095	c.1824C>T	c.(1822-1824)ccC>ccT	p.P608P	TRIOBP_uc003atu.3_Silent_p.P436P|TRIOBP_uc003atq.1_Silent_p.P608P|TRIOBP_uc003ats.1_Silent_p.P436P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	608					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGGACAATCCCAGAGCCTCCA	0.582000														55			28		0	0	0.001512	0	0
CHL1	10752	broad.mit.edu	37	3	447292	447292	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:447292C>A	uc003bot.3	+	27	4215	c.3573C>A	c.(3571-3573)ttC>ttA	p.F1191L	CHL1_uc003bou.3_Missense_Mutation_p.F1175L|CHL1_uc011asi.2_Missense_Mutation_p.F1138L	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	1175					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATGGTCTCTTCAGTGAAGATG	0.478000														11			31		3.90053e-15	1.70266e-14	0.0024448	1	0
ETFB	2109	broad.mit.edu	37	19	51856511	51856511	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:51856511C>T	uc002pwh.3	-	2	342	c.250G>A	c.(250-252)Gac>Aac	p.D84N	ETFB_uc002pwg.3_Missense_Mutation_p.D175N	NM_001985	NP_001976	P38117	ETFB_HUMAN	Homo sapiens electron-transfer-flavoprotein, beta polypeptide (ETFB), transcript variant 1, mRNA.	84					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity	p.D175Y(1)		kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		ATACCTCGGTCTGCACCCATG	0.637000														47			34		0	0	0.00111076	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169055	90169055	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr4:90169055G>A	uc003hsm.1	-	1	2726	c.2207C>T	c.(2206-2208)tCc>tTc	p.S736F	GPRIN3_uc021xqb.1_Missense_Mutation_p.S736F	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	736								p.I735V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		AGTATCTGAGGAAATGGATCT	0.478000														61			36		0	0	0.000953801	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643006	1643006	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:1643006G>A	uc009ycy.1	-	1	300	c.213C>T	c.(211-213)ggC>ggT	p.G71G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	166	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G106G(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAGCCCCCACAGG	0.682000														91			7		0	0	0.000673444	0	0
RGS12	6002	broad.mit.edu	37	4	3318359	3318359	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr4:3318359G>A	uc003ggw.3	+	1	1366	c.462G>A	c.(460-462)ccG>ccA	p.P154P	RGS12_uc003ggu.2_Silent_p.P154P|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Silent_p.P154P|RGS12_uc003ggx.1_Silent_p.P154P	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	154						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGAAAACCCGAGCCTTTGTG	0.428000														32			8		0	0	0.000442599	0	0
FAT3	120114	broad.mit.edu	37	11	92615911	92615911	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:92615911G>A	uc001pdj.4	+	22	12306	c.12289G>A	c.(12289-12291)Gag>Aag	p.E4097K	FAT3_uc001pdi.4_Missense_Mutation_p.E537K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4097					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGGTGTGAGGAGGACATCAA	0.572000										TCGA Ovarian(4;0.039)				116			82		0	0	0.000781405	0	0
SLC28A2	9153	broad.mit.edu	37	15	45562453	45562453	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:45562453G>A	uc001zva.2	+	14	1692	c.1627G>A	c.(1627-1629)Gga>Aga	p.G543R		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	543					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TAGTTCCATAGGAATCACACT	0.433000														50			41		0	0	0.00285205	0	0
TP53BP2	7159	broad.mit.edu	37	1	223986192	223986192	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:223986192C>T	uc001hod.3	-	12	2097	c.1286G>A	c.(1285-1287)aGa>aAa	p.R429K	TP53BP2_uc010pvb.2_Missense_Mutation_p.R558K|TP53BP2_uc010puz.2_Intron|TP53BP2_uc010pva.2_Missense_Mutation_p.R197K	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	552					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding	p.P428P(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TAGCAGCACTCTCGGCTGCTG	0.542000														164			80		0	0	0.000781405	0	0
OR1G1	8390	broad.mit.edu	37	17	3030271	3030271	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:3030271G>A	uc002fvc.1	-	0	575	c.575C>T	c.(574-576)cCc>cTc	p.P192L		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ATTGGTGAAGGGGTCTGTGCA	0.498000														58			56		0	0	0.000781405	0	0
RYR3	6263	broad.mit.edu	37	15	34080580	34080580	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:34080580A>C	uc001zhi.3	+	66	9821	c.9751A>C	c.(9751-9753)Atc>Ctc	p.I3251L	RYR3_uc010bar.3_Missense_Mutation_p.I3251L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3251					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAACTCCTCATCCTGGACGA	0.552000														65			45		0	0	0.000680045	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369000	86369000	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr13:86369000G>A	uc001vll.1	-	1	2103	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S	SLITRK6_uc021rla.1_Silent_p.S548S	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	548	LRRCT 2.					integral to membrane		p.S548*(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GATGCCCGGGGGAAGTGCAGA	0.463000														24			36		0	0	0.000814825	0	0
SLC30A5	64924	broad.mit.edu	37	5	68412402	68412402	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:68412402G>A	uc003jvh.3	+	9	1561	c.1254G>A	c.(1252-1254)caG>caA	p.Q418Q	SLC30A5_uc003jvj.3_Non-coding_Transcript|SLC30A5_uc003jvk.3_Silent_p.Q147Q|SLC30A5_uc003jvi.3_Silent_p.Q247Q	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	418					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	Golgi apparatus|apical plasma membrane|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ACTCTAGGCAGATCTTTTACT	0.323000														13			40		0	0	0.00222228	0	0
SERINC4	619189	broad.mit.edu	37	15	44087630	44087630	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:44087630G>A	uc001zte.1	-	9	1199	c.567C>T	c.(565-567)ttC>ttT	p.F189F	ELL3_uc001zsx.1_5'UTR|SERF2_uc001zsz.4_3'UTR|SERF2_uc021skb.1_3'UTR|SERF2_uc010uee.2_Non-coding_Transcript|SERF2_uc010bdq.3_3'UTR|SERF2_uc021skc.1_3'UTR|C15orf63_uc001ztb.3_Intron|SERF2_uc021skd.1_3'UTR|MIR1282_uc021ske.1_5'Flank|SERINC4_uc001ztc.1_Non-coding_Transcript|SERINC4_uc010bds.1_Silent_p.F189F	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN	Homo sapiens serine incorporator 4 (SERINC4), mRNA.	433					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		GTGAGGCAAGGAAGAAGACGA	0.502000														57			48		0	0	0.000781405	0	0
MEP1A	4224	broad.mit.edu	37	6	46800919	46800919	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr6:46800919G>A	uc011dwh.1	+	9	1345	c.1337G>A	c.(1336-1338)gGa>gAa	p.G446E	MEP1A_uc010jzh.1_Missense_Mutation_p.G418E|MEP1A_uc011dwg.1_Missense_Mutation_p.G140E|MEP1A_uc011dwi.1_Missense_Mutation_p.G318E	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	418	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCAACTGGGGGAATTTACCTA	0.512000														36			30		0	0	0.00127121	0	0
DNAH5	1767	broad.mit.edu	37	5	13769624	13769624	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:13769624C>T	uc003jfd.2	-	56	9748	c.9706G>A	c.(9706-9708)Gat>Aat	p.D3236N	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3236	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGGCTTTATCGTTGGCCACT	0.418000									Kartagener syndrome					52			34		0	0	0.00111076	0	0
GPR77	27202	broad.mit.edu	37	19	47844173	47844173	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:47844173C>T	uc002pgk.1	+	1	188	c.117C>T	c.(115-117)ctC>ctT	p.L39L	GPR77_uc010ela.1_Silent_p.L39L|GPR77_uc021uwn.1_Silent_p.L39L	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	39					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		TGGCCCCGCTCCCACTGTATG	0.692000														43			37		0	0	0.00195071	0	0
SLC36A4	120103	broad.mit.edu	37	11	92916041	92916041	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:92916041A>G	uc001pdn.3	-	3	387	c.290T>C	c.(289-291)gTg>gCg	p.V97A	SLC36A4_uc001pdm.3_5'UTR	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	97					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCCTATAAACACAAGGCTGAT	0.308000														214			175		0	0	0.000781405	0	0
DHX57	90957	broad.mit.edu	37	2	39088480	39088480	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:39088480G>A	uc002rrf.3	-	4	1171	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Nonsense_Mutation_p.R358*	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	358							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTAGAAAATCGAATTTCAAGT	0.368000														31			25		0	0	0.00047179	0	0
SPIN1	10927	broad.mit.edu	37	9	91077425	91077425	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr9:91077425G>T	uc010mqj.3	+	3	616	c.116G>T	c.(115-117)aGt>aTt	p.S39I	SPIN1_uc004apy.3_Missense_Mutation_p.S39I|SPIN1_uc004apz.3_Missense_Mutation_p.S39I|SPIN1_uc010mqk.3_Missense_Mutation_p.S39I	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN	Homo sapiens spindlin 1 (SPIN1), mRNA.	39					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CATCGGAGCAGTGTGGGTCCG	0.498000														56			31		4.62619e-21	2.03121e-20	0.000814825	1	0
SYNDIG1	79953	broad.mit.edu	37	20	24565606	24565606	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr20:24565606G>A	uc002wtw.1	+	2	1228	c.595G>A	c.(595-597)Gca>Aca	p.A199T		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	199					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TCTGGGCATCGCAGCCTTCTA	0.617000														54			57		0	0	0.000781405	0	0
CENPM	79019	broad.mit.edu	37	22	42335114	42335114	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr22:42335114C>T	uc003bbn.3	-	5	557	c.489G>A	c.(487-489)ctG>ctA	p.L163L	bK250D10.C22.8_uc003bba.1_Intron|CENPM_uc003bbo.3_3'UTR|CENPM_uc010gyq.3_Silent_p.L41L	NM_024053	NP_076958	Q9NSP4	CENPM_HUMAN	Homo sapiens centromere protein M (CENPM), transcript variant 1, mRNA.	163					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						ACAGCAGGTTCAGAGCTGAGA	0.667000														19			16		0	0	0.000422831	0	0
WDR93	56964	broad.mit.edu	37	15	90280818	90280818	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:90280818C>T	uc002boj.3	+	14	1724	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	WDR93_uc010bnr.3_Silent_p.S513S|WDR93_uc010upz.2_Silent_p.S258S	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	541					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TCATCTTTTCCAAGAATGGCT	0.557000														67			60		0	0	0.000781405	0	0
CEP63	80254	broad.mit.edu	37	3	134250777	134250777	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:134250777G>A	uc003eqo.1	+	4	762	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	CEP63_uc003eql.1_Missense_Mutation_p.E105K|CEP63_uc003eqm.3_Missense_Mutation_p.E105K|CEP63_uc003eqn.1_Missense_Mutation_p.E105K	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	105					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAACTACATGAAGAAGTGAG	0.358000														26			9		0	0	0.000274275	0	0
HNF4G	3174	broad.mit.edu	37	8	76465432	76465432	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr8:76465432G>A	uc003yaq.3	+	6	774	c.504_splice	c.e6+1	p.Q168_splice	HNF4G_uc003yar.3_Splice_Site_p.Q205_splice	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	168					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TGGATGATCAGGTACACATTT	0.318000														54			35		0	0	0.000814825	0	0
CLCN3	1182	broad.mit.edu	37	4	170610194	170610194	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr4:170610194G>A	uc003ish.3	+	5	978	c.419_splice	c.e5-1	p.G140_splice	CLCN3_uc003isi.3_Splice_Site_p.G140_splice|CLCN3_uc011cka.2_Splice_Site_p.G140_splice|CLCN3_uc011cjz.2_Splice_Site_p.G123_splice|CLCN3_uc003isj.2_Splice_Site_p.G113_splice	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	140					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GTTTTTATAGGGGCACTGGCC	0.423000														77			29		0	0	0.00178596	0	0
ADAM20	8748	broad.mit.edu	37	14	70990899	70990899	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr14:70990899G>A	uc021rvs.1	-	0	726	c.726C>T	c.(724-726)ttC>ttT	p.F242F	ADAM20_uc001xme.3_Silent_p.F242F	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	192	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GCTTCAGAGTGAAATTATATG	0.398000														12			14		0	0	0.00185496	0	0
TFAP4	7023	broad.mit.edu	37	16	4310169	4310169	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr16:4310169G>A	uc010uxg.2	-	5	998	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4), mRNA.	248					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TGACGACATTGATGTGGTGGG	0.627000														30			43		0	0	0.000781405	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762211	48762211	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chrX:48762211G>A	uc011mmm.1	-	4	1381	c.1059C>T	c.(1057-1059)gcC>gcT	p.A353A	SLC35A2_uc004dlo.1_Silent_p.A325A|SLC35A2_uc011mml.1_Silent_p.A338A|SLC35A2_uc004dlp.1_Silent_p.A325A|SLC35A2_uc011mmn.1_Silent_p.A264A|SLC35A2_uc004dlq.3_Intron|SLC35A2_uc004dlr.1_Missense_Mutation_p.P179L	NM_001042498	NP_001035963	P78381	S35A2_HUMAN	Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA.	325					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	UDP-galactose transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CAGCGCCAAGGGCAAATAATG	0.587000														4			9		0	0	0.000442599	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26873441	26873441	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:26873441C>T	uc001bmr.1	+	2	355	c.192C>T	c.(190-192)ctC>ctT	p.L64L	RPS6KA1_uc010ofe.1_Intron|RPS6KA1_uc010off.1_Silent_p.L48L|RPS6KA1_uc001bms.1_Silent_p.L73L|RPS6KA1_uc009vsl.1_5'UTR	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	64	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		ATTTCGAGCTCCTCAAGGTTC	0.562000														20			29		0	0	0.00209593	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141223	63141223	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:63141223T>C	uc001nww.3	+	2	882	c.614T>C	c.(613-615)tTg>tCg	p.L205S	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	205					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTACGCTTCTTGTCTGGGATT	0.443000														79			59		0	0	0.000781405	0	0
CACNA1B	774	broad.mit.edu	37	9	140809147	140809147	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr9:140809147C>T	uc004cog.3	+	4	809	c.664C>T	c.(664-666)Cca>Tca	p.P222S	CACNA1B_uc022bqn.1_Missense_Mutation_p.P222S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	222					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCCATGGTTCCACTCCTGCA	0.547000														11			12		0	0	0.00136819	0	0
HELB	92797	broad.mit.edu	37	12	66725086	66725086	+	Silent	SNP	T	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:66725086T>C	uc001sti.2	+	11	2851	c.2823T>C	c.(2821-2823)ttT>ttC	p.F941F	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	941					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAAACAGTTTTCCTAGAAAAA	0.517000														19			30		0	0	0.00209593	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939629	12939629	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:12939629G>A	uc001aun.2	-	3	1244	c.1173C>T	c.(1171-1173)ccC>ccT	p.P391P		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	391										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGCAGATGGGATTTCCAC	0.527000														106			128		0	0	0.000781405	0	0
abParts	0	broad.mit.edu	37	22	22664240	22664240	+	RNA	SNP	T	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr22:22664240T>G	uc021wml.1	+	31		c.2682T>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GATAAGCTGCTGATGAGCGGT	0.532000														55			4		0	0	0.00116845	0	0
ESF1	51575	broad.mit.edu	37	20	13695681	13695681	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr20:13695681C>T	uc002woj.3	-	13	2504	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	799	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTGTTCTTTCCGTTCTCTTTG	0.393000														93			47		0	0	0.000781405	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490305	141490305	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr7:141490305C>T	uc003vwr.1	+	0	289	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	48					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					ACCTCATTATCCTGGGCCTGG	0.448000														5			70		0	0	0.000781405	0	0
HSPG2	3339	broad.mit.edu	37	1	22174253	22174253	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:22174253C>T	uc009vqd.3	-	60	7997	c.7957G>A	c.(7957-7959)Gtg>Atg	p.V2653M	HSPG2_uc001bfj.3_Missense_Mutation_p.V2652M	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2652	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.V2652M(4)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTGGCGACCACGCAGTTCAGA	0.647000														10			6		0	0	0.00116845	0	0
TESPA1	9840	broad.mit.edu	37	12	55356885	55356885	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:55356885G>A	uc010spd.1	-	8	930	c.797C>T	c.(796-798)tCc>tTc	p.S266F	TESPA1_uc001sgl.3_Missense_Mutation_p.S128F|TESPA1_uc001sgm.3_Missense_Mutation_p.S13F|TESPA1_uc010spb.1_Missense_Mutation_p.S13F|TESPA1_uc010spc.1_Missense_Mutation_p.S128F|TESPA1_uc001sgn.3_Missense_Mutation_p.S266F	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	266																	AATCCTGATGGATGGCACATC	0.527000														19			11		0	0	0.00185496	0	0
ALDH3B1	221	broad.mit.edu	37	11	67790121	67790121	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:67790121C>G	uc010rpy.2	+	9	1118	c.1002C>G	c.(1000-1002)ttC>ttG	p.F334L	ALDH3B1_uc001omz.3_Missense_Mutation_p.F334L|ALDH3B1_uc001ona.3_Missense_Mutation_p.F298L|ALDH3B1_uc001onb.3_Non-coding_Transcript	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B1 (ALDH3B1), transcript variant 3, mRNA.	336					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	AGGAGATCTTCGGGCCCATCC	0.632000														31			41		0	0	0.000781405	0	0
DLGAP2	9228	broad.mit.edu	37	8	1581039	1581039	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr8:1581039C>T	uc003wpl.3	+	4	1494	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	DLGAP2_uc003wpm.3_Missense_Mutation_p.S466F	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	545					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)		GTGTGCGAGTCCGTCTTCAGT	0.582000														6			15		0	0	0.000566183	0	0
SRGAP2	23380	broad.mit.edu	37	1	206619607	206619608	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:206619607_206619608CC>TT	uc001hdy.3	+	14	1801_1802	c.1800_1801CC>TT	c.(1798-1803)ggccct>ggTTct	p.P601S	SRGAP2_uc010prt.1_Missense_Mutation_p.P524S|SRGAP2_uc001hdx.3_Missense_Mutation_p.P601S|SRGAP2_uc010pru.2_Missense_Mutation_p.P600S|SRGAP2_uc010prv.1_Missense_Mutation_p.P525S	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	688	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AGCTGGAGGGCCCTGTCTACAG	0.589000														85			90		0	0	6.4e-05	0	0
THADA	63892	broad.mit.edu	37	2	43819134	43819134	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:43819134A>C	uc002rsw.4	-	2	480	c.128T>G	c.(127-129)gTg>gGg	p.V43G	THADA_uc002rsx.4_Missense_Mutation_p.V43G|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.V43G|THADA_uc002rtc.4_Missense_Mutation_p.V43G|THADA_uc002rtd.3_Missense_Mutation_p.V43G	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	43							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CGTGAGTTGCACACAATGTAA	0.318000														208			152		0	0	0.000781405	0	0
OR4K1	79544	broad.mit.edu	37	14	20403845	20403845	+	Missense_Mutation	SNP	C	T	T	rs146809169		TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr14:20403845C>T	uc001vwj.2	+	0	79	c.20C>T	c.(19-21)tCg>tTg	p.S7L		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACAAATGAATCGATGGTGTCT	0.348000														283			45		0	0	0.000781405	0	0
WDR62	284403	broad.mit.edu	37	19	36593925	36593925	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:36593925C>T	uc002odd.2	+	27	3502	c.3411C>T	c.(3409-3411)ggC>ggT	p.G1137G	WDR62_uc002odc.2_Silent_p.G1132G	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	1132					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)			TGGACCGAGGCGGAAGCCAGC	0.647000														22			18		0	0	0.00074312	0	0
UBE3A	7337	broad.mit.edu	37	15	25601948	25601949	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:25601948_25601949CC>AA	uc001zaq.3	-	8	2617_2618	c.1857_1858GG>TT	c.(1855-1860)ctgggt>ctTTgt	p.G620C	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.G597C|UBE3A_uc001zas.3_Missense_Mutation_p.G617C|UBE3A_uc001zat.3_Missense_Mutation_p.G597C	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	620					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATAGCCAGACCCAGTACTATGC	0.371000														357			8		0	0	6.4e-05	0	0
FSD2	123722	broad.mit.edu	37	15	83451553	83451553	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:83451553G>A	uc002bjd.2	-	3	1127	c.960C>T	c.(958-960)ttC>ttT	p.F320F	FSD2_uc010uol.1_Silent_p.F320F|FSD2_uc010uom.1_Silent_p.F320F	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	320										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TGACCTTTATGAAATCCACCT	0.378000														182			125		0	0	0.000781405	0	0
OR1D2	4991	broad.mit.edu	37	17	2995663	2995663	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:2995663G>A	uc010vrb.2	-	0	628	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	210					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						AATCCAAAGGGAATGAGGAAG	0.443000														69			62		0	0	0.000781405	0	0
CCDC85B	11007	broad.mit.edu	37	11	65658858	65658858	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:65658858G>T	uc001ogf.3	+	0	984	c.604G>T	c.(604-606)Gat>Tat	p.D202Y	FIBP_uc001ogd.3_5'Flank|FIBP_uc001oge.3_5'Flank|FIBP_uc010roq.1_5'Flank|FIBP_uc010ror.1_5'Flank	NM_006848	NP_006839	Q15834	CC85B_HUMAN	Homo sapiens coiled-coil domain containing 85B (CCDC85B), mRNA.	202					cell differentiation|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	protein binding								READ - Rectum adenocarcinoma(159;0.166)		TTCCCCCGATGATTGAAGGCA	0.711000														7			4		3.59834e-05	0.000153952	0.00116845	1	0
CT47B1	643311	broad.mit.edu	37	X	120009363	120009363	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chrX:120009363G>A	uc011muc.2	-	0	417	c.162C>T	c.(160-162)gtC>gtT	p.V54V		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	54										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CGGGCCCTGCGACTCCGACCA	0.736000														5			30		0	0	0.00209593	0	0
PAK7	57144	broad.mit.edu	37	20	9525015	9525015	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr20:9525015C>T	uc002wnl.2	-	9	2414	c.1869_splice	c.e9+1	p.E623_splice	PAK7_uc002wnk.2_Splice_Site_p.E623_splice|PAK7_uc002wnj.2_Splice_Site_p.E623_splice|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	623	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GACCCCCTTACCTCTGTCCCA	0.542000														69			67		0	0	0.000781405	0	0
REG4	83998	broad.mit.edu	37	1	120342418	120342418	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:120342418G>A	uc001eig.3	-	4	673	c.233C>T	c.(232-234)aCc>aTc	p.T78I	REG4_uc001eif.3_Missense_Mutation_p.T78I	NM_001159352	NP_114433	Q9BYZ8	REG4_HUMAN	Homo sapiens regenerating islet-derived family, member 4 (REG4), transcript variant 1, mRNA.	78	C-type lectin.					extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		CTCTGCTATGGTGCTGGCTTC	0.512000														263			120		0	0	0.000781405	0	0
MIER3	166968	broad.mit.edu	37	5	56219569	56219569	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:56219569G>A	uc003jrc.1	-	11	1184	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	MIER3_uc003jqz.1_Missense_Mutation_p.P319S|MIER3_uc003jrd.1_Missense_Mutation_p.P382S|MIER3_uc003jra.1_Missense_Mutation_p.P381S|MIER3_uc003jrb.1_Missense_Mutation_p.P206S|SETD9_uc021xyu.1_Intron	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	Homo sapiens mesoderm induction early response 1, family member 3 (MIER3), mRNA.	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TGTTGATCAGGAATAGGCTCA	0.418000														37			67		0	0	0.000781405	0	0
PER3	8863	broad.mit.edu	37	1	7863183	7863183	+	Missense_Mutation	SNP	C	T	T	rs145870917		TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:7863183C>T	uc001aop.3	+	7	1173	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	PER3_uc009vmg.1_Missense_Mutation_p.R317C|PER3_uc009vmh.1_Missense_Mutation_p.R317C|PER3_uc001aoo.3_Missense_Mutation_p.R316C|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Missense_Mutation_p.R316C	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	316	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGAAGATCGTTCTCTGAT	0.428000														89			28		0	0	0.00127121	0	0
ELFN2	114794	broad.mit.edu	37	22	37769437	37769437	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr22:37769437G>A	uc003asq.4	-	2	2924	c.2138C>T	c.(2137-2139)cCc>cTc	p.P713L	ELFN2_uc021wph.1_Missense_Mutation_p.P713L	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	713						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GTACAGGGCGGGAAAGCTGTG	0.711000														7			6		0	0	0.00116845	0	0
ITIH4	3700	broad.mit.edu	37	3	52857968	52857968	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:52857968G>A	uc011bem.2	-	9	1252	c.1224C>T	c.(1222-1224)ggC>ggT	p.G408G	ITIH4_uc011bel.2_Silent_p.G138G|ITIH4_uc003dfy.3_Silent_p.G272G|ITIH4_uc003dfz.3_Silent_p.G408G|ITIH4_uc011ben.2_Silent_p.G408G	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	408	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGCTGTACCGGCCACTTACAG	0.582000														18			17		0	0	0.00121646	0	0
PDE8A	5151	broad.mit.edu	37	15	85657248	85657248	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:85657248C>T	uc002blh.3	+	13	1519	c.1330C>T	c.(1330-1332)Ctt>Ttt	p.L444F	PDE8A_uc021stv.1_Missense_Mutation_p.L372F|PDE8A_uc002bli.3_Missense_Mutation_p.L398F|PDE8A_uc010bnc.3_Missense_Mutation_p.L197F|PDE8A_uc010bnd.3_Missense_Mutation_p.L197F|PDE8A_uc002blj.3_Missense_Mutation_p.L64F|PDE8A_uc002blk.3_Missense_Mutation_p.L64F	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	444					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGCCAATGACCTTGTTGGGGG	0.423000														38			32		0	0	0.00283554	0	0
HJURP	55355	broad.mit.edu	37	2	234749335	234749335	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:234749335G>A	uc002vvg.3	-	7	2157	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S	HJURP_uc010znd.2_Silent_p.S636S|HJURP_uc010zne.2_Silent_p.S605S	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	697					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AGGCACCCAGGGAATTGCCCT	0.592000														78			61		0	0	0.000781405	0	0
KIAA1549	57670	broad.mit.edu	37	7	138554416	138554416	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr7:138554416G>A	uc011kql.2	-	13	4692	c.4643C>T	c.(4642-4644)cCg>cTg	p.P1548L	KIAA1549_uc011kqi.2_Missense_Mutation_p.P332L|KIAA1549_uc011kqk.2_Missense_Mutation_p.P332L|KIAA1549_uc011kqj.2_Missense_Mutation_p.P1548L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1548						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTCTACCACCGGGAACTCGTA	0.637000			O	BRAF	pilocytic astrocytoma									12			9		0	0	0.000274275	0	0
LRP2	4036	broad.mit.edu	37	2	170032974	170032974	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:170032974G>A	uc002ues.3	-	53	10731	c.10518C>T	c.(10516-10518)acC>acT	p.T3506T		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3506	EGF-like 13.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCATGCAGTAGGTGCTGCCAC	0.552000														29			23		0	0	0.00229938	0	0
SUSD4	55061	broad.mit.edu	37	1	223438040	223438040	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:223438040G>T	uc001hnx.3	-	3	1290	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	SUSD4_uc001hny.4_Missense_Mutation_p.S219Y|SUSD4_uc010puw.2_Missense_Mutation_p.S59Y|SUSD4_uc001hnz.2_Missense_Mutation_p.S219Y|SUSD4_uc010pux.1_Missense_Mutation_p.S148Y	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	219	Sushi 3.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AAGATACGCAGACCCATCAAG	0.488000														53			57		4.45325e-31	1.96099e-30	0.000781405	1	0
AFF1	4299	broad.mit.edu	37	4	88048236	88048236	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr4:88048236C>T	uc011ccz.2	+	14	3145	c.2870C>T	c.(2869-2871)tCt>tTt	p.S957F	AFF1_uc003hqj.4_Missense_Mutation_p.S950F|AFF1_uc003hqk.4_Missense_Mutation_p.S950F|AFF1_uc011cda.2_Missense_Mutation_p.S588F	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	950						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AATGGTAACTCTAAACCAGGG	0.388000														48			84		0	0	0.000781405	0	0
SLC6A3	6531	broad.mit.edu	37	5	1414876	1414876	+	Silent	SNP	G	A	A	rs28363072		TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:1414876G>A	uc003jck.3	-	7	1212	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	362					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGAAGACGACGAAGCCGGAGG	0.617000														17			16		0	0	0.000958276	0	0
GJB6	10804	broad.mit.edu	37	13	20796916	20796916	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr13:20796916G>A	uc001und.4	-	2	1091	c.704C>T	c.(703-705)gCc>gTc	p.A235V	GJB6_uc001umz.4_Missense_Mutation_p.A235V|GJB6_uc001unb.4_Missense_Mutation_p.A235V|GJB6_uc001unc.4_Missense_Mutation_p.A235V|GJB6_uc001una.4_Missense_Mutation_p.A235V|GJB6_uc021rhb.1_Missense_Mutation_p.A235V	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	235					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CTCCTTTAGGGCATGATTGGG	0.418000														59			36		0	0	0.000692331	0	0
NFIB	4781	broad.mit.edu	37	9	14120611	14120611	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr9:14120611C>T	uc022bdo.1	-	7	1608	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	NFIB_uc003zld.3_Missense_Mutation_p.R106Q|NFIB_uc003zlf.3_Missense_Mutation_p.R358Q|NFIB_uc003zle.3_Missense_Mutation_p.R358Q|NFIB_uc022bdp.1_Missense_Mutation_p.R384Q|NFIB_uc011lmo.2_Missense_Mutation_p.R358Q	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	358					Clara cell differentiation|DNA replication|Type I pneumocyte differentiation|Type II pneumocyte differentiation|anterior commissure morphogenesis|chondrocyte differentiation|commissural neuron axon guidance|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AGGTGGAGTTCGAGTTGAGAT	0.458000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""									2			10		0	0	0.000442599	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951888	235951888	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:235951888G>A	uc002vvp.3	+	3	2868	c.2475G>A	c.(2473-2475)gtG>gtA	p.V825V	SH3BP4_uc010fym.3_Silent_p.V807V|SH3BP4_uc002vvq.3_Silent_p.V825V	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	825					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGGAGCTTGTGATGGTGAGTG	0.577000														35			27		0	0	0.001512	0	0
LOC646214	646214	broad.mit.edu	37	15	21937005	21937005	+	RNA	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:21937005C>T	uc010tzj.1	-	0		c.3735G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TCCTTCCATTCCCAAAAGTAC	0.473000														67			22		0	0	0.00047179	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45556242	45556242	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr18:45556242C>T	uc010dnv.3	-	3	1751	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	ZBTB7C_uc002ldb.3_Missense_Mutation_p.E417K|ZBTB7C_uc010dnu.3_Missense_Mutation_p.E426K|ZBTB7C_uc010dnw.3_Missense_Mutation_p.E417K	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	417						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TAGGGCCGCTCCCCTGTGTGC	0.592000														17			18		0	0	0.00152264	0	0
OR10J5	127385	broad.mit.edu	37	1	159505705	159505705	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:159505705G>A	uc010piw.2	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGACAGTTAGGAAAACCACAA	0.378000														41			18		0	0	0.00152264	0	0
OR6A2	8590	broad.mit.edu	37	11	6816642	6816642	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:6816642C>T	uc001mes.1	-	0	498	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGCATCCCTCAAAGGAGATT	0.473000														39			25		0	0	0.000720815	0	0
CHD3	1107	broad.mit.edu	37	17	7796803	7796803	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:7796803T>C	uc002gjd.2	+	4	888	c.886T>C	c.(886-888)Tcc>Ccc	p.S296P	CHD3_uc002gje.2_Missense_Mutation_p.S237P|CHD3_uc002gjf.2_Missense_Mutation_p.S237P|CHD3_uc002gjg.1_Missense_Mutation_p.S69P	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	237					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATAGCACCCTCCGGACCCCC	0.652000														2			5		0	0	0.00198382	0	0
SCG2	7857	broad.mit.edu	37	2	224462334	224462334	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:224462334G>A	uc021vxk.1	-	0	1667	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F	SCG2_uc002vnm.3_Missense_Mutation_p.S556F	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	556					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGTCTCCTGAGAGCTGCCTTG	0.517000														34			29		0	0	0.00127121	0	0
CD109	135228	broad.mit.edu	37	6	74493476	74493477	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr6:74493476_74493477AC>TT	uc003php.3	+	18	2583_2584	c.2152_2153AC>TT	c.(2152-2154)act>TTt	p.T718F	CD109_uc003phq.3_Missense_Mutation_p.T718F|CD109_uc010kba.3_Missense_Mutation_p.T641F	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	718						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGATTCTATCACTTCTTGGGTG	0.366000														15			31		0	0	6.4e-05	0	0
FMN2	56776	broad.mit.edu	37	1	240341256	240341256	+	Silent	SNP	A	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:240341256A>G	uc010pye.2	+	2	2043	c.1818A>G	c.(1816-1818)caA>caG	p.Q606Q	FMN2_uc010pyd.2_Silent_p.Q606Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	606					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGTTAGTCAACCCACACACT	0.418000														6			16		0	0	0.000566183	0	0
FMO5	2330	broad.mit.edu	37	1	146658801	146658801	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:146658801G>A	uc001epi.2	-	8	1669	c.1280C>T	c.(1279-1281)aCc>aTc	p.T427I	FMO5_uc001eph.4_Intron|FMO5_uc001epj.2_3'UTR	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	427						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.H426R(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TCCCTGAATGGTATGGCGTTG	0.483000														4			12		0	0	0.00185496	0	0
SAMD9	54809	broad.mit.edu	37	7	92732256	92732256	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr7:92732256G>A	uc003umf.3	-	2	3425	c.3155C>T	c.(3154-3156)tCc>tTc	p.S1052F	SAMD9_uc003umg.3_Missense_Mutation_p.S1052F|SAMD9_uc022ahg.1_Missense_Mutation_p.S1052F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1052						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AATAAATGGGGAAAACCAATT	0.383000														56			28		0	0	0.00178596	0	0
TMEM119	338773	broad.mit.edu	37	12	108985408	108985408	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:108985408C>T	uc001tng.3	-	1	915	c.752G>A	c.(751-753)gGg>gAg	p.G251E	TMEM119_uc021rdl.1_Missense_Mutation_p.G251E	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	251						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TTCCAGCTCCCCTTGGCCCTC	0.652000														88			46		0	0	0.000781405	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102452896	102452896	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr14:102452896C>T	uc001yks.2	+	7	2498	c.2334C>T	c.(2332-2334)gcC>gcT	p.A778A		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	778	Interaction with DYNC1LI2 (By similarity).|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						ACCCGTTTGCCATCTCACTGA	0.517000														35			48		0	0	0.000781405	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033883	110033883	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:110033883G>A	uc001dxr.3	+	9	1713	c.1698G>A	c.(1696-1698)gaG>gaA	p.E566E	ATXN7L2_uc001dxs.3_Silent_p.E193E|CYB561D1_uc010ovl.2_5'Flank|CYB561D1_uc010ovm.2_5'Flank|CYB561D1_uc001dxu.3_5'Flank|CYB561D1_uc001dxw.3_5'Flank|CYB561D1_uc010ovn.2_5'Flank|CYB561D1_uc010ovo.2_5'Flank|CYB561D1_uc009wfd.3_5'Flank|CYB561D1_uc010ovp.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	566										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGAGGTGGAGGCCCCTTCTC	0.607000														154			197		0	0	0.000781405	0	0
CSNK1E	1454	broad.mit.edu	37	22	38696771	38696771	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr22:38696771C>T	uc003avj.3	-	4	784	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	CSNK1E_uc003avk.3_Missense_Mutation_p.G175S|CSNK1E_uc003avm.2_Missense_Mutation_p.G175S	NM_152221	NP_689407	P49674	KC1E_HUMAN	Homo sapiens casein kinase 1, epsilon (CSNK1E), transcript variant 1, mRNA.	175	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					CGGGCCGTGCCGGTCAGGTTC	0.652000														39			32		0	0	0.000814825	0	0
VWF	7450	broad.mit.edu	37	12	6173510	6173510	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:6173510G>A	uc001qnn.1	-	11	1584	c.1334C>T	c.(1333-1335)aCc>aTc	p.T445I	VWF_uc010set.1_Missense_Mutation_p.T445I	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	445	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGCCGGACGGTGACGGAGCG	0.632000														11			12		0	0	0.00244969	0	0
CACNA1C	775	broad.mit.edu	37	12	2602424	2602424	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:2602424G>A	uc009zdu.1	+	6	1298	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	CACNA1C_uc001qkc.2_Missense_Mutation_p.G329S|CACNA1C_uc001qjz.2_Missense_Mutation_p.G329S|CACNA1C_uc001qkd.2_Missense_Mutation_p.G329S|CACNA1C_uc001qke.2_Missense_Mutation_p.G329S|CACNA1C_uc001qkf.2_Missense_Mutation_p.G329S|CACNA1C_uc009zdw.1_Missense_Mutation_p.G329S|CACNA1C_uc001qkg.2_Missense_Mutation_p.G329S|CACNA1C_uc001qkh.2_Missense_Mutation_p.G329S|CACNA1C_uc001qkl.2_Missense_Mutation_p.G329S|CACNA1C_uc001qkj.2_Missense_Mutation_p.G329S|CACNA1C_uc001qkk.2_Missense_Mutation_p.G329S|CACNA1C_uc001qkn.2_Missense_Mutation_p.G329S|CACNA1C_uc001qkm.2_Missense_Mutation_p.G329S|CACNA1C_uc001qko.2_Missense_Mutation_p.G329S|CACNA1C_uc001qkp.2_Missense_Mutation_p.G329S|CACNA1C_uc001qkq.2_Missense_Mutation_p.G329S|CACNA1C_uc001qku.2_Missense_Mutation_p.G329S|CACNA1C_uc001qkr.2_Missense_Mutation_p.G329S|CACNA1C_uc001qks.2_Missense_Mutation_p.G329S|CACNA1C_uc001qkt.2_Missense_Mutation_p.G329S|CACNA1C_uc009zdv.1_Missense_Mutation_p.G326S|CACNA1C_uc001qkb.2_Missense_Mutation_p.G329S|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Missense_Mutation_p.G65S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	329					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTGCCAGAACGGCACGGTGTG	0.587000														77			27		0	0	0.001512	0	0
SORL1	6653	broad.mit.edu	37	11	121448004	121448004	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:121448004C>T	uc001pxx.3	+	24	3604	c.3475C>T	c.(3475-3477)Cgg>Tgg	p.R1159W	SORL1_uc010rzp.1_Missense_Mutation_p.R5W	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1159	LDL-receptor class A 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCACCAGTGCCGGAGTGACGA	0.517000														42			21		0	0	0.00152264	0	0
DNAH5	1767	broad.mit.edu	37	5	13780959	13780959	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:13780959G>A	uc003jfd.2	-	52	8972	c.8930C>T	c.(8929-8931)tCc>tTc	p.S2977F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2977	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATCTGGAAGGAAACGTAGCC	0.488000									Kartagener syndrome					17			9		0	0	0.000442599	0	0
MYH8	4626	broad.mit.edu	37	17	10319023	10319023	+	Nonsense_Mutation	SNP	G	A	A	rs143063345		TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:10319023G>A	uc002gmm.2	-	5	609	c.514C>T	c.(514-516)Cga>Tga	p.R172*	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	172	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGATTCTCTCGATCTGTGAAA	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					13			25		0	0	0.00106085	0	0
OR7E24	26648	broad.mit.edu	37	19	9362107	9362107	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:9362107G>A	uc002mlb.1	+	0	388	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ATGTATGGATGACATGCTCCT	0.488000														44			27		0	0	0.000878237	0	0
RBL2	5934	broad.mit.edu	37	16	53515595	53515595	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr16:53515595C>A	uc002ehi.4	+	20	3215	c.3097C>A	c.(3097-3099)Cca>Aca	p.P1033T	RBL2_uc002ehj.3_Missense_Mutation_p.P743T|RBL2_uc010vgw.2_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	1033					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGATGCTCCTCCACTCTCTCC	0.333000														219			23		3.01185e-09	1.29967e-08	0.000586117	1	0
SF3B3	23450	broad.mit.edu	37	16	70572248	70572248	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr16:70572248G>A	uc002ezf.3	+	6	1059	c.848G>A	c.(847-849)aGa>aAa	p.R283K		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	283					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GACCCTGAAAGAGGAATGATT	0.388000														99			34		0	0	0.00148497	0	0
CUBN	8029	broad.mit.edu	37	10	16967390	16967390	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr10:16967390A>C	uc001ioo.3	-	42	6548	c.6496T>G	c.(6496-6498)Ttg>Gtg	p.L2166V		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2166	CUB 15.				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)	GGGGGTCCCAAGGGTGGAGAA	0.388000														3			25		0	0	0.000720815	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962468	73962468	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chrX:73962468G>T	uc004eby.3	-	2	2541	c.1924C>A	c.(1924-1926)Cca>Aca	p.P642T		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	642					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCAATGGATGGGATTCTTTGA	0.403000														3			14		2.32078e-09	1.00434e-08	0.000308642	1	0
PEG3	5178	broad.mit.edu	37	19	57293402	57293402	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:57293402C>T	uc002qnr.2	-	8	947	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc010etp.2_Missense_Mutation_p.E189K|PEG3_uc010ygs.1_Missense_Mutation_p.E189K|PEG3_uc002qnq.2_Missense_Mutation_p.E189K	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	326					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E189*(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAACTAAGTTCCTCTGGGCTG	0.507000														68			57		0	0	0.000781405	0	0
FLVCR1	28982	broad.mit.edu	37	1	213032489	213032489	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:213032489A>C	uc001hjt.3	+	0	893	c.695A>C	c.(694-696)aAa>aCa	p.K232T	FLVCR1-AS1_uc001hjr.4_5'Flank|FLVCR1-AS1_uc001hjs.4_5'Flank	NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor 1 (FLVCR1), mRNA.	232					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTTGGGCCCAAAGAGGTGTCC	0.562000														59			20		0	0	0.00229938	0	0
CHRNB4	1143	broad.mit.edu	37	15	78922068	78922068	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:78922068A>C	uc002bed.1	-	4	691	c.579T>G	c.(577-579)gaT>gaG	p.D193E	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.D11E	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	193					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GAGTAAAGTCATCCATGCTGG	0.562000														52			40		0	0	0.00148497	0	0
CWF19L2	143884	broad.mit.edu	37	11	107260890	107260890	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:107260890A>C	uc010rvp.2	-	11	1812	c.1782T>G	c.(1780-1782)gaT>gaG	p.D594E	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	594							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTAGATTATCATCATCATGAA	0.313000														34			17		0	0	0.00074312	0	0
LRRC1	55227	broad.mit.edu	37	6	53706942	53706942	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr6:53706942G>A	uc003pcd.1	+	1	715	c.194G>A	c.(193-195)gGa>gAa	p.G65E		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	65						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CGAAAGCTTGGACTTAGTGAT	0.368000														48			14		0	0	0.00074312	0	0
NLRP12	91662	broad.mit.edu	37	19	54312870	54312870	+	Silent	SNP	G	A	A	rs141711127	by1000genomes	TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:54312870G>A	uc002qcj.4	-	2	2263	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.S681S|NLRP12_uc002qci.4_Silent_p.S681S|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.S681S	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	681					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGCTCCTGCGGAGCACCTCG	0.567000														20			16		0	0	0.000422831	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:126707544T>G	uc003ejg.3	+	0	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	36	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682000														20			6		0	0	0.00198382	0	0
PTGS1	5742	broad.mit.edu	37	9	125146022	125146022	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr9:125146022C>T	uc004bmg.1	+	7	1132	c.997C>T	c.(997-999)Ctc>Ttc	p.L333F	PTGS1_uc011lys.1_Missense_Mutation_p.L308F|PTGS1_uc010mwb.1_Missense_Mutation_p.L224F|PTGS1_uc004bmf.1_Missense_Mutation_p.L333F|PTGS1_uc004bmh.1_Missense_Mutation_p.L224F|PTGS1_uc011lyt.1_Missense_Mutation_p.L224F	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	333					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	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			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	GACGACCCGCCTCATCCTCAT	0.612000														23			17		0	0	0.00121646	0	0
ZNF91	7644	broad.mit.edu	37	19	23542295	23542295	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:23542295G>A	uc002nre.3	-	3	3599	c.3486C>T	c.(3484-3486)atC>atT	p.I1162I	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Silent_p.I1130I	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	1162						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				aaagtagtgggattacaggtg	0.443000														20			14		0	0	0.00185496	0	0
PRR12	57479	broad.mit.edu	37	19	50099247	50099247	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:50099247C>T	uc002poo.4	+	3	1655	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	325	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGACCCAGCTCCCTGGGAGGC	0.711000														32			39		0	0	0.00148497	0	0
KRT4	3851	broad.mit.edu	37	12	53207774	53207774	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:53207774G>A	uc001saz.3	-	0	291	c.291C>T	c.(289-291)ggC>ggT	p.G97G		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	23						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TCTTGCCACCGCCTACAATGG	0.617000														34			32		0	0	0.00283554	0	0
COL6A6	131873	broad.mit.edu	37	3	130318624	130318624	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:130318624C>T	uc010htl.3	+	18	4654	c.4623C>T	c.(4621-4623)ccC>ccT	p.P1541P	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1541	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGCCAGGCCCCCCCGGGACAC	0.488000														22			9		0	0	0.000978159	0	0
RB1CC1	9821	broad.mit.edu	37	8	53569134	53569134	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr8:53569134C>T	uc003xre.4	-	14	3813	c.3255G>A	c.(3253-3255)caG>caA	p.Q1085Q	RB1CC1_uc003xrf.4_Silent_p.Q1085Q	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	1085					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding	p.Q1085Q(2)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AGGTCTCCTTCTGCTGGGCTC	0.358000														49			35		0	0	0.00283554	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135884211	135884211	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:135884211C>T	uc010fnf.3	+	10	1001	c.958C>T	c.(958-960)Cct>Tct	p.P320S	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.P320S|RAB3GAP1_uc010fng.3_Missense_Mutation_p.P145S|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	320						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGCTGAGAATCCTCAGTGTTT	0.358000														97			84		0	0	0.000781405	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000352	41000352	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:41000352C>T	uc003jmj.4	-	38	4942	c.4452G>A	c.(4450-4452)agG>agA	p.R1484R	HEATR7B2_uc003jmi.4_Silent_p.R1039R	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1484							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TGTAGAAATCCCTGGCCCTTG	0.502000														31			23		0	0	0.000586117	0	0
CLRN1	7401	broad.mit.edu	37	3	150690318	150690318	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:150690318C>T	uc021xfs.1	-	0	469	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	CLRN1-AS1_uc011bny.1_Intron|CLRN1-AS1_uc003eyl.2_5'Flank|CLRN1_uc003eyk.1_Missense_Mutation_p.E60K|CLRN1_uc021xft.1_Non-coding_Transcript|CLRN1_uc021xfu.1_Non-coding_Transcript|CLRN1_uc021xfv.1_Missense_Mutation_p.E60K|CLRN1_uc021xfw.1_Non-coding_Transcript	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	60					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TACTGCATTTCACCCATAAAC	0.532000														33			46		0	0	0.000680045	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958811	50958811	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:50958811G>A	uc002psf.2	+	19	2299	c.2248G>A	c.(2248-2250)Gac>Aac	p.D750N		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	750	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGATGTGACAGACACCACCAC	0.587000														68			36		0	0	0.00148497	0	0
MKL2	57496	broad.mit.edu	37	16	14341258	14341258	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr16:14341258C>T	uc010uza.2	+	11	2296	c.2141C>T	c.(2140-2142)cCc>cTc	p.P714L	MKL2_uc002dcg.3_Intron|MKL2_uc002dcj.3_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	703	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTTGCTCAGCCCCAGGCTTTA	0.592000														14			23		0	0	0.00229938	0	0
GPR182	11318	broad.mit.edu	37	12	57389082	57389082	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:57389082C>T	uc021qzf.1	+	0	89	c.89C>T	c.(88-90)aCc>aTc	p.T30I	GPR182_uc001smk.3_Missense_Mutation_p.T30I	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	30						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CACAACTGGACCGAGCTGCTT	0.612000														39			33		0	0	0.000814825	0	0
GK2	2712	broad.mit.edu	37	4	80329315	80329315	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr4:80329315C>T	uc003hlu.3	-	0	58	c.40G>A	c.(40-42)Gga>Aga	p.G14R		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	14					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACCACCGCTCCCACCAACGGC	0.557000														17			8		0	0	0.000274275	0	0
NPAS4	266743	broad.mit.edu	37	11	66191075	66191075	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:66191075G>A	uc001ohx.1	+	5	1011	c.835G>A	c.(835-837)Gag>Aag	p.E279K	NPAS4_uc010rpc.1_Missense_Mutation_p.E69K	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	279	PAC.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TATTCAGGCAGAGATGGTGGT	0.517000														37			36		0	0	0.00128727	0	0
XIST	7503	broad.mit.edu	37	X	73071669	73071669	+	RNA	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chrX:73071669C>T	uc004ebm.1	-	0		c.920G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GGCCACTTTTCCTCCACAATC	0.473000														9			51		0	0	0.000781405	0	0
TTC6	319089	broad.mit.edu	37	14	38293143	38293143	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr14:38293143G>A	uc001wuj.3	+	9	1247	c.1145G>A	c.(1144-1146)aGt>aAt	p.S382N	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.S285N|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		GCCAGAATTAGTTTTGGCTAT	0.373000														20			34		0	0	0.00058488	0	0
NT5DC3	51559	broad.mit.edu	37	12	104192412	104192412	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:104192412C>T	uc010swe.1	-	4	609	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	190							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TGGGACCCCTCGTACATTTCA	0.423000														49			17		0	0	0.00229938	0	0
CELSR1	9620	broad.mit.edu	37	22	46761267	46761267	+	Silent	SNP	G	A	A	rs138188369	byFrequency	TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr22:46761267G>A	uc003bhw.1	-	31	8415	c.8415C>T	c.(8413-8415)tcC>tcT	p.S2805S		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2805					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TATCTGAGTCGGAATCGTGGC	0.637000														16			12		0	0	0.000308642	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458415	120458415	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:120458415G>A	uc001eik.3	-	33	7227	c.6930C>T	c.(6928-6930)atC>atT	p.I2310I		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2310					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCTTTAGGGATGAGCTGGA	0.632000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					282			115		0	0	0.000781405	0	0
PKD1	5310	broad.mit.edu	37	16	2140133	2140133	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr16:2140133G>A	uc002cos.1	-	45	12716	c.12507C>T	c.(12505-12507)tcC>tcT	p.S4169S	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.S4168S	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	4169					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGATACCTTGGAGCCCCTGG	0.692000														37			16		0	0	0.000422831	0	0
TNS4	84951	broad.mit.edu	37	17	38635928	38635929	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:38635928_38635929CC>TT	uc010cxb.3	-	9	2071_2072	c.1907_1908GG>AA	c.(1906-1908)agg>aAA	p.R636K	TNS4_uc002huu.4_Intron	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	636	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCCCTTACTTCCTCTGGACATC	0.584000														34			20		0	0	6.4e-05	0	0
HERC2	8924	broad.mit.edu	37	15	28366576	28366576	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:28366576C>T	uc001zbj.3	-	86	13295	c.13189_splice	c.e86-1	p.E4397_splice		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4397					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)		AAGCCGCCTCCTAAAACACAT	0.438000														24			25		0	0	0.00106085	0	0
MOCOS	55034	broad.mit.edu	37	18	33795660	33795660	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr18:33795660G>A	uc002kzq.4	+	7	1540	c.1517G>A	c.(1516-1518)gGg>gAg	p.G506E		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	506					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding	p.G506R(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GCTGACACCGGGGAGACTGGA	0.592000														12			7		0	0	0.00198382	0	0
LRRC6	23639	broad.mit.edu	37	8	133669119	133669119	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr8:133669119C>T	uc003ytk.3	-	2	287	c.213G>A	c.(211-213)ttG>ttA	p.L71L	LRRC6_uc022bbp.1_Silent_p.L71L|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	71						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AAGCTAAATTCAAATATTCAA	0.229000														31			6		0	0	0.000157383	0	0
DDX1	1653	broad.mit.edu	37	2	15735288	15735288	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:15735288G>A	uc002rce.3	+	1	324	c.36G>A	c.(34-36)gaG>gaA	p.E12E	DDX1_uc010yjq.1_Intron|DDX1_uc021vee.1_Intron	NM_004939	NP_004930	Q92499	DDX1_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 (DDX1), mRNA.	12	Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA/RNA helicase activity|RNA helicase activity|chromatin binding|exonuclease activity|poly(A) RNA binding|protein binding|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TAATGCCTGAGATTGCACAAG	0.318000														29			20		0	0	0.00229938	0	0
CR2	1380	broad.mit.edu	37	1	207648498	207648498	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:207648498C>T	uc001hfw.3	+	12	2595	c.2476C>T	c.(2476-2478)Cgc>Tgc	p.R826C	CR2_uc001hfv.3_Missense_Mutation_p.R885C|CR2_uc009xch.3_Missense_Mutation_p.R826C	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	826	Sushi 13.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAATGGTAGTCGCGTGATTAG	0.408000														19			71		0	0	0.000781405	0	0
TOMM40	10452	broad.mit.edu	37	19	45394827	45394827	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:45394827G>A	uc002paa.4	+	0	351	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	TOMM40_uc002ozz.3_Missense_Mutation_p.R52Q|TOMM40_uc002ozx.4_Missense_Mutation_p.R52Q|TOMM40_uc002ozy.4_Missense_Mutation_p.R52Q	NM_001128917	NP_006105	O96008	TOM40_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast) (TOMM40), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	52					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		AGTACGAGTCGAAGTTCGGAA	0.766000														14			13		0	0	0.00244969	0	0
ADAM7	8756	broad.mit.edu	37	8	24350737	24350737	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr8:24350737G>A	uc003xeb.3	+	15	1950	c.1837G>A	c.(1837-1839)Gga>Aga	p.G613R	ADAM7_uc003xec.3_Missense_Mutation_p.G385R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	613	Cys-rich.				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)		ATGTGGAGAGGGAATGGTAAG	0.368000														19			13		0	0	0.00136819	0	0
UBE3B	89910	broad.mit.edu	37	12	109954637	109954637	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:109954637C>T	uc001top.3	+	18	2627	c.2024C>T	c.(2023-2025)tCt>tTt	p.S675F	UBE3B_uc001toq.3_Missense_Mutation_p.S675F|UBE3B_uc001tos.3_Missense_Mutation_p.S102F|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.S675F	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	675					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GAAACCAGCTCTGCCTCCCCG	0.532000														20			36		0	0	0.000814825	0	0
ADRM1	11047	broad.mit.edu	37	20	60882796	60882796	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr20:60882796C>T	uc002ycn.3	+	6	848	c.768C>T	c.(766-768)gcC>gcT	p.A256A	ADRM1_uc002yco.3_Silent_p.A256A	NM_007002	NP_783163	Q16186	ADRM1_HUMAN	Homo sapiens adhesion regulating molecule 1 (ADRM1), transcript variant 1, mRNA.	256	Ser-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GCACAGCAGCCAGCCCGACCC	0.677000														13			12		0	0	0.00136819	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32587396	32587396	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:32587396C>T	uc003cfb.4	-	2	386	c.282G>A	c.(280-282)aaG>aaA	p.K94K	DYNC1LI1_uc011axh.2_Intron	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 1 (DYNC1LI1), mRNA.	94					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						CTCTTCCTTTCTTATACTCCT	0.308000														37			12		0	0	0.000978159	0	0
PRPF40A	55660	broad.mit.edu	37	2	153520278	153520278	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:153520278C>T	uc002tyh.4	-	18	2001	c.1979G>A	c.(1978-1980)gGa>gAa	p.G660E	PRPF40A_uc002tyg.4_Missense_Mutation_p.G116E|PRPF40A_uc010zcd.1_Missense_Mutation_p.G611E	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	687	FF 4.				RNA splicing|mRNA processing	nuclear matrix|nuclear speck	protein binding	p.R660*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						AACTACAAATCCTTTATCCTA	0.269000														39			23		0	0	0.00278032	0	0
ADCY8	114	broad.mit.edu	37	8	131859707	131859707	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr8:131859707G>A	uc003ytd.4	-	10	2721	c.2465C>T	c.(2464-2466)tCc>tTc	p.S822F	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	822					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CACAGCTGAGGAATTGAAAGT	0.383000										HNSCC(32;0.087)				87			36		0	0	0.000680045	0	0
OR11A1	26531	broad.mit.edu	37	6	29394760	29394760	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr6:29394760G>A	uc003nmg.3	-	0	750	c.659C>T	c.(658-660)gCc>gTc	p.A220V		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CACAATTCTGGCATAAGATGT	0.522000														15			19		0	0	0.00074312	0	0
CMTM5	116173	broad.mit.edu	37	14	23847927	23847927	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr14:23847927C>T	uc010akm.3	+	2	773	c.329C>T	c.(328-330)tCc>tTc	p.S110F	CMTM5_uc010akn.3_Intron|CMTM5_uc001wju.3_Intron|CMTM5_uc010ako.3_Intron|CMTM5_uc001wjs.3_Intron|CMTM5_uc001wjt.3_Intron	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 5 (CMTM5), transcript variant 1, mRNA.	110	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GATCTACTCTCCCACTCAGCA	0.627000														22			8		0	0	0.000157383	0	0
EIF2C4	192670	broad.mit.edu	37	1	36315797	36315797	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:36315797G>A	uc001bzj.2	+	15	2405	c.2215G>A	c.(2215-2217)Gat>Aat	p.D739N		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA.	739	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding	p.V738V(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACTACAGTGGATAGTACCAT	0.403000														41			55		0	0	0.000781405	0	0
FARSB	10056	broad.mit.edu	37	2	223436631	223436631	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:223436631G>A	uc010zlq.1	-	17	1824	c.1789C>T	c.(1789-1791)Ccc>Tcc	p.P597S	FARSB_uc002vne.1_Missense_Mutation_p.P577S|FARSB_uc002vnf.1_Missense_Mutation_p.P478S	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, beta subunit (FARSB), mRNA.	577					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|RNA binding|magnesium ion binding|phenylalanine-tRNA ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GAGGAGCAGGGCATGGTCAGC	0.527000														26			16		0	0	0.000566183	0	0
MME	4311	broad.mit.edu	37	3	154834527	154834527	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:154834527G>A	uc010hvr.1	+	5	725	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	MME_uc003fab.1_Missense_Mutation_p.E172K|MME_uc003fac.1_Missense_Mutation_p.E172K|MME_uc003fad.1_Missense_Mutation_p.E172K|MME_uc003fae.1_Missense_Mutation_p.E172K	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	172					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AGTAGCAACAGAAAACTGGGA	0.343000														28			12		0	0	0.00185496	0	0
AKT1	207	broad.mit.edu	37	14	105241328	105241329	+	Missense_Mutation	DNP	GG	AA	AA	rs139453090		TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr14:105241328_105241329GG>AA	uc001ypk.3	-	6	1133_1134	c.579_580CC>TT	c.(577-582)gcccac>gcTTac	p.H194Y	AKT1_uc001ypl.3_Missense_Mutation_p.H194Y|AKT1_uc010axa.3_Missense_Mutation_p.H194Y|AKT1_uc001ypm.3_Missense_Mutation_p.H194Y|AKT1_uc001ypn.3_Missense_Mutation_p.H194Y|AKT1_uc010tyk.2_Missense_Mutation_p.H132Y	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	194	Protein kinase.				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GTGAGTGTGTGGGCCACCTCGT	0.668000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""									13			23		0	0	6.4e-05	0	0
HK3	3101	broad.mit.edu	37	5	176309021	176309021	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:176309021C>T	uc003mfa.3	-	15	2253	c.2161G>A	c.(2161-2163)Gat>Aat	p.D721N	HK3_uc003mez.3_Missense_Mutation_p.D277N	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	721	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAGCCATCGTCCCCAAAG	0.642000														32			56		0	0	0.000781405	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45506071	45506071	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:45506071C>T	uc001cnd.2	-	6	1977	c.1749G>A	c.(1747-1749)caG>caA	p.Q583Q		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	583							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TACCTTTCTTCTGATGCTTGT	0.488000														36			42		0	0	0.000781405	0	0
SULT1E1	6783	broad.mit.edu	37	4	70715154	70715154	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr4:70715154C>T	uc003heo.3	-	5	609	c.496_splice	c.e5+1	p.V166_splice	SULT1E1_uc010ihv.1_Missense_Mutation_p.G166D	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	166					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GCTGTTCCTACCCTGTCCTTG	0.378000														53			21		0	0	0.00229938	0	0
SLC6A19	340024	broad.mit.edu	37	5	1201811	1201811	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:1201811C>T	uc003jbw.4	+	0	102	c.46C>T	c.(46-48)Ccg>Tcg	p.P16S		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	16					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.P16L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCCCGGATCCCGTCCCTGGC	0.677000														9			7		0	0	0.000157383	0	0
ZIC2	7546	broad.mit.edu	37	13	100635129	100635129	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr13:100635129A>C	uc001von.3	+	0	1104	c.811A>C	c.(811-813)Aag>Cag	p.K271Q		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	271					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K271K(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAATCCCAAGAAGAGCTGCAA	0.582000														61			20		0	0	0.00278032	0	0
SCRN3	79634	broad.mit.edu	37	2	175268966	175268966	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:175268966C>T	uc002uiq.3	+	4	775	c.677C>T	c.(676-678)tCc>tTc	p.S226F	SCRN3_uc010zen.2_Missense_Mutation_p.S219F|SCRN3_uc010zeo.2_Missense_Mutation_p.S24F	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	Homo sapiens secernin 3 (SCRN3), transcript variant 1, mRNA.	226					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			GCAGCATATTCCTATCTTGAC	0.403000														20			23		0	0	0.000720815	0	0
DNAH3	55567	broad.mit.edu	37	16	21098222	21098222	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr16:21098222G>A	uc010vbe.2	-	18	2825	c.2825C>T	c.(2824-2826)cCc>cTc	p.P942L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	942	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTGAGGATGGGAATGTACTG	0.512000														156			66		0	0	0.000781405	0	0
OBSCN	84033	broad.mit.edu	37	1	228476516	228476516	+	Silent	SNP	G	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:228476516G>T	uc009xez.1	+	37	10310	c.10266G>T	c.(10264-10266)ctG>ctT	p.L3422L	OBSCN_uc001hsn.3_Silent_p.L3422L|OBSCN_uc001hsq.1_Silent_p.L678L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3422	Ig-like 34.				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)				TCTGTGGCCTGGCTGTGGCAG	0.627000														39			24		3.7963e-18	1.66199e-17	0.00047179	1	0
ATXN7	6314	broad.mit.edu	37	3	63973962	63973962	+	Silent	SNP	A	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:63973962A>T	uc003dlv.3	+	8	1876	c.1323A>T	c.(1321-1323)gtA>gtT	p.V441V	ATXN7_uc003dlw.4_Silent_p.V441V|ATXN7_uc021wzy.1_Silent_p.V441V|ATXN7_uc011bfn.2_Silent_p.V296V	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	441	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AGCCTTTTGTAGCTAGTAAAC	0.537000														63			28		0	0	0.00106085	0	0
ALG1	56052	broad.mit.edu	37	16	5123177	5123177	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr16:5123177G>A	uc002cym.3	+	2	351	c.310G>A	c.(310-312)Gga>Aga	p.G104R	ALG1_uc002cyj.3_5'UTR|ALG1_uc010bue.3_5'UTR	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA.	104					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TTTCCAGTACGGAGTCAAAGT	0.512000														37			20		0	0	0.00152264	0	0
NEU4	129807	broad.mit.edu	37	2	242756224	242756224	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:242756224G>A	uc002wcp.2	+	2	870	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	NEU4_uc010fzr.3_Missense_Mutation_p.V113M|NEU4_uc002wcm.3_Missense_Mutation_p.V113M|NEU4_uc002wco.2_Missense_Mutation_p.V113M|NEU4_uc002wcn.2_Missense_Mutation_p.V125M	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	113						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GCCTGAGGCCGTGCAGATCGC	0.711000														8			5		0	0	0.000602214	0	0
PRPF40B	25766	broad.mit.edu	37	12	50036041	50036041	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:50036041G>A	uc001rur.1	+	18	1905	c.1842G>A	c.(1840-1842)cgG>cgA	p.R614R	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.R636R|PRPF40B_uc001ruq.1_Silent_p.R601R|PRPF40B_uc001rus.1_Silent_p.R557R|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	614					RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CAGAGGCACGGGAGAGGGAGC	0.627000														55			25		0	0	0.000586117	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39418954	39418954	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr22:39418954C>T	uc003awt.4	+	1	552	c.145C>T	c.(145-147)Ctt>Ttt	p.L49F	APOBEC3D_uc021wpq.1_Missense_Mutation_p.L49F|APOBEC3D_uc010gxu.3_5'UTR|APOBEC3D_uc003awu.4_Missense_Mutation_p.L49F	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	49					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTCAAATCTCCTTTGGGACAC	0.488000														51			40		0	0	0.00222228	0	0
MECOM	2122	broad.mit.edu	37	3	168834174	168834174	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:168834174G>A	uc011bpj.1	-	7	1889	c.1486C>T	c.(1486-1488)Cct>Tct	p.P496S	MECOM_uc010hwk.1_Missense_Mutation_p.P331S|MECOM_uc003ffj.3_Missense_Mutation_p.P373S|MECOM_uc003ffi.3_Missense_Mutation_p.P308S|MECOM_uc011bpi.1_Missense_Mutation_p.P309S|MECOM_uc003ffn.3_Missense_Mutation_p.P308S|MECOM_uc003ffk.2_Missense_Mutation_p.P308S|MECOM_uc003ffl.2_Missense_Mutation_p.P468S|MECOM_uc011bpk.1_Missense_Mutation_p.P308S|MECOM_uc010hwn.2_Missense_Mutation_p.P496S	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						AAGCCGGAAGGAAACAGACCA	0.478000														50			13		0	0	0.00185496	0	0
FRY	10129	broad.mit.edu	37	13	32813472	32813472	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr13:32813472G>A	uc001utx.3	+	44	6998	c.6502G>A	c.(6502-6504)Gaa>Aaa	p.E2168K	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGATATAGCCGAAAGGATTGC	0.463000														34			41		0	0	0.00170553	0	0
NDST3	9348	broad.mit.edu	37	4	118975867	118975867	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr4:118975867C>T	uc003ibx.3	+	1	1205	c.802C>T	c.(802-804)Caa>Taa	p.Q268*	NDST3_uc011cgf.1_Nonsense_Mutation_p.Q268*|NDST3_uc003ibw.3_Nonsense_Mutation_p.Q268*	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	268	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGATGGAATTCAAAGGGTTCT	0.418000														80			45		0	0	0.00285205	0	0
USP17L2	377630	broad.mit.edu	37	8	11996079	11996079	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr8:11996079G>A	uc003wvc.1	-	0	191	c.191C>T	c.(190-192)cCc>cTc	p.P64L	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	64					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CTTCTTCCTGGGAGCAAGCTG	0.567000														129			41		0	0	0.00222228	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035104	110035104	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:110035104C>T	uc010rwc.2	+	5	1297	c.1297C>T	c.(1297-1299)Cat>Tat	p.H433Y	ZC3H12C_uc009yxw.3_Missense_Mutation_p.H432Y|ZC3H12C_uc010rwd.2_Missense_Mutation_p.H433Y|ZC3H12C_uc001pkr.4_Missense_Mutation_p.H401Y	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	432							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CAAATATTACCATCCCGAAAG	0.458000														18			7		0	0	0.000157383	0	0
CPT1C	126129	broad.mit.edu	37	19	50209210	50209210	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:50209210C>T	uc010eng.3	+	10	1325	c.1009C>T	c.(1009-1011)Cac>Tac	p.H337Y	CPT1C_uc002ppl.4_Missense_Mutation_p.H303Y|CPT1C_uc002ppi.3_Missense_Mutation_p.H254Y|CPT1C_uc002ppk.3_Missense_Mutation_p.H326Y|CPT1C_uc010enh.3_Missense_Mutation_p.H337Y|CPT1C_uc002ppj.3_Missense_Mutation_p.H337Y|CPT1C_uc010ybc.1_Missense_Mutation_p.H208Y|CPT1C_uc010eni.1_5'UTR	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	337					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGCTGTCTTCCACCGGGGCCG	0.587000														54			18		0	0	0.000720815	0	0
AHNAK	79026	broad.mit.edu	37	11	62300587	62300587	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:62300587C>T	uc001ntl.3	-	4	1602	c.1302G>A	c.(1300-1302)atG>atA	p.M434I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	434					nervous system development	nucleus	protein binding	p.M434I(2)		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)				TGGGGACTTTCATCTTGGGCA	0.542000														30			30		0	0	0.00209593	0	0
RASA4	10156	broad.mit.edu	37	7	44069176	44069176	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr7:44069176G>A	uc011kbk.1	-	7	948	c.843C>T	c.(841-843)agC>agT	p.S281S	RASA4_uc003tji.2_Non-coding_Transcript|RASA4_uc010kxx.2_Non-coding_Transcript	NM_006989	NP_008920	O43374	RASL2_HUMAN	Homo sapiens RAS p21 protein activator 4 (RASA4), transcript variant 1, mRNA.	760					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CTTTGCCAGGGCTCGTGGGCA	0.697000														1			3		0	0	6.4e-05	0	0
TACC2	10579	broad.mit.edu	37	10	123997041	123997041	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr10:123997041C>T	uc001lfv.3	+	16	8619	c.8259C>T	c.(8257-8259)atC>atT	p.I2753I	TACC2_uc001lfw.3_Silent_p.I899I|TACC2_uc009xzx.3_Silent_p.I2631I|TACC2_uc010qtv.2_Silent_p.I2680I|TACC2_uc001lfx.3_Silent_p.I380I|TACC2_uc001lfy.3_Silent_p.I376I|TACC2_uc001lfz.3_Silent_p.I831I|TACC2_uc001lga.3_Silent_p.I801I|TACC2_uc009xzy.3_Silent_p.I813I|TACC2_uc001lgb.3_Silent_p.I711I	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2753						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCTCCAGATCGCCAGAGCAG	0.547000														13			19		0	0	0.00229938	0	0
MORC1	27136	broad.mit.edu	37	3	108723683	108723684	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:108723683_108723684CC>AT	uc003dxl.3	-	19	2152_2153	c.2065_2066GG>AT	c.(2065-2067)ggg>ATg	p.G689M	MORC1_uc011bhn.2_Missense_Mutation_p.G668M	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	689					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTCAGGCACCCTTCAGTTGGT	0.347000														122			141		0	0	6.4e-05	0	0
EFTUD1	79631	broad.mit.edu	37	15	82520603	82520603	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:82520603C>T	uc002bgt.1	-	9	1167	c.998G>A	c.(997-999)cGa>cAa	p.R333Q	EFTUD1_uc002bgu.1_Missense_Mutation_p.R282Q	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	333					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GTCTGAATGTCGTGCCTCCCG	0.408000														35			22		0	0	0.00229938	0	0
C2orf16	84226	broad.mit.edu	37	2	27804224	27804224	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:27804224G>A	uc002rkz.4	+	0	4836	c.4785G>A	c.(4783-4785)agG>agA	p.R1595R	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.	1595	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)					GTCCCTCTAGGAAAAACCATT	0.547000														50			39		0	0	0.00170553	0	0
ACD	65057	broad.mit.edu	37	16	67694194	67694194	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr16:67694194G>A	uc002etq.4	-	0	525	c.188C>T	c.(187-189)cCg>cTg	p.P63L	ACD_uc002etp.4_Missense_Mutation_p.P63L|ACD_uc002etr.4_Missense_Mutation_p.P63L|ACD_uc010vjt.1_Missense_Mutation_p.P53L|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	63					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L62F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GCCTTTCCTCGGAAGAGGAAG	0.741000														5			16		0	0	0.000308642	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790544	133790544	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:133790544G>A	uc001qgx.4	-	17	3307	c.3076C>T	c.(3076-3078)Ccc>Tcc	p.P1026S		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1026	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGAGTCAAGGGCAGCGTGCTG	0.667000														53			33		0	0	0.00170553	0	0
CHST11	50515	broad.mit.edu	37	12	105150791	105150791	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:105150791G>A	uc001tkz.3	+	2	767	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	CHST11_uc001tky.3_Missense_Mutation_p.R85Q	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	90					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GACACGTGCCGAGCCAACAGC	0.582000														12			21		0	0	0.00229938	0	0
CNDP1	84735	broad.mit.edu	37	18	72245505	72245505	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr18:72245505A>G	uc002llq.3	+	8	1321	c.1110A>G	c.(1108-1110)atA>atG	p.I370M	CNDP1_uc002lls.3_Missense_Mutation_p.I173M	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	370					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GCCGAGTTATAGGAAAATTTT	0.428000														48			57		0	0	0.000781405	0	0
NET1	10276	broad.mit.edu	37	10	5494349	5494349	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr10:5494349C>T	uc001iia.3	+	4	530	c.392C>T	c.(391-393)tCc>tTc	p.S131F	NET1_uc010qar.2_5'UTR|NET1_uc001iib.3_Missense_Mutation_p.S77F|NET1_uc010qas.2_5'UTR	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA.	131					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	p.G131delG(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GACCACAGATCCCCAGCCTCT	0.433000														2			15		0	0	0.00074312	0	0
DGKZ	8525	broad.mit.edu	37	11	46393075	46393075	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr11:46393075C>T	uc001ncn.1	+	8	1370	c.1245C>T	c.(1243-1245)atC>atT	p.I415I	DGKZ_uc001nch.2_Silent_p.I243I|DGKZ_uc010rgq.2_Silent_p.I209I|DGKZ_uc010rgr.2_Silent_p.I231I|DGKZ_uc001ncj.2_Silent_p.I193I|DGKZ_uc001nck.2_Silent_p.I5I|DGKZ_uc001ncm.2_Silent_p.I226I|DGKZ_uc001ncl.2_Silent_p.I227I|DGKZ_uc009yky.1_Silent_p.I227I|DGKZ_uc010rgs.1_Silent_p.I204I	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	415					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGCAGCAGATCGAGGAGCCGT	0.677000														16			14		0	0	0.00185496	0	0
ZMYND15	84225	broad.mit.edu	37	17	4644204	4644204	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:4644204G>A	uc002fyu.2	+	0	391	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Missense_Mutation_p.E121K|ZMYND15_uc002fyt.2_Missense_Mutation_p.E121K	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	121	Glu-rich.						zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						ggaagaggaggaagatgaaga	0.602000														10			9		0	0	0.000274275	0	0
PZP	5858	broad.mit.edu	37	12	9360928	9360928	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:9360928C>T	uc001qvl.3	-	0	39	c.10G>A	c.(10-12)Gac>Aac	p.D4N	PZP_uc009zgl.3_5'UTR	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						AGAAGTCTGTCTTTCCGCATT	0.493000														13			9		0	0	0.000274275	0	0
RNF19A	25897	broad.mit.edu	37	8	101300197	101300197	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr8:101300197G>A	uc003yjj.1	-	2	523	c.206C>T	c.(205-207)tCc>tTc	p.S69F	RNF19A_uc003yjk.1_Missense_Mutation_p.S69F|RNF19A_uc003yjl.1_Missense_Mutation_p.S69F	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	69					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CCGAAACAGGGAGCCTATTGA	0.418000														84			60		0	0	0.000781405	0	0
RPH3AL	9501	broad.mit.edu	37	17	177278	177278	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:177278C>T	uc002fre.2	-	2	400	c.57G>A	c.(55-57)cgG>cgA	p.R19R	RPH3AL_uc010vpy.2_Silent_p.R19R|RPH3AL_uc021tmx.1_Silent_p.R19R|RPH3AL_uc002frf.2_Silent_p.R19R|RPH3AL_uc010cjl.2_Silent_p.R19R	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	19					exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		GGGCAAGCTGCCGGTCATTGG	0.622000														33			17		0	0	0.00121646	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280643	32280643	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr1:32280643G>A	uc001bts.1	-	1	350	c.292C>T	c.(292-294)Cct>Tct	p.P98S	SPOCD1_uc001btu.3_Missense_Mutation_p.P98S|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	98					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGGAGCCCAGGAGCCAGCATC	0.627000														17			24		0	0	0.000586117	0	0
LZTFL1	54585	broad.mit.edu	37	3	45879463	45879463	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:45879463T>A	uc003cox.1	-	1	222	c.84A>T	c.(82-84)agA>agT	p.R28S	LZTFL1_uc003coy.1_Missense_Mutation_p.R11S|LZTFL1_uc011bak.1_Intron	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), mRNA.	28										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CAGTTTTGAGTCTCAAGCCTC	0.413000														20			33		0	0	0.000814825	0	0
PDS5A	23244	broad.mit.edu	37	4	39876033	39876033	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr4:39876033C>T	uc003guv.4	-	20	2694	c.2154_splice	c.e20-1	p.S718_splice		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	718					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AATTAAGGTCCTGCAAAAAAT	0.368000														23			22		0	0	0.00278032	0	0
RIF1	55183	broad.mit.edu	37	2	152273114	152273114	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:152273114C>T	uc002txm.3	+	4	481	c.320C>T	c.(319-321)aCc>aTc	p.T107I	RIF1_uc010fnv.2_Missense_Mutation_p.T71I|RIF1_uc002txn.3_Missense_Mutation_p.T107I|RIF1_uc002txl.3_Missense_Mutation_p.T107I|RIF1_uc002txo.3_Missense_Mutation_p.T107I|RIF1_uc010zby.1_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	107					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTGAATGATACCATTAAGAAT	0.333000														131			117		0	0	0.000781405	0	0
MYLK	4638	broad.mit.edu	37	3	123367904	123367904	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:123367904C>T	uc003ego.3	-	25	4611	c.4329G>A	c.(4327-4329)aaG>aaA	p.K1443K	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Silent_p.K243K|MYLK_uc011bjw.2_Silent_p.K1443K|MYLK_uc003egp.3_Silent_p.K1374K|MYLK_uc003egq.3_Silent_p.K1443K|MYLK_uc003egr.3_Silent_p.K1374K|MYLK_uc003egs.3_Silent_p.K1267K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1443	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTCGGGCTCCTTCTCATCTG	0.542000														64			35		0	0	0.00148497	0	0
CYLC1	1538	broad.mit.edu	37	X	83128980	83128980	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chrX:83128980G>A	uc004eei.1	+	3	1285	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	CYLC1_uc004eeh.1_Missense_Mutation_p.E421K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	422					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.E421E(3)|p.E421K(2)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCAGAAAGATGAAAAAAAGGA	0.343000														1			12		0	0	0.00185496	0	0
LRRC33	375387	broad.mit.edu	37	3	196381500	196381500	+	Silent	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:196381500C>T	uc003fwv.3	+	1	194	c.90C>T	c.(88-90)tcC>tcT	p.S30S		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	30						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CAGCAGCCTCCCAAGGAGTCT	0.557000														37			13		0	0	0.00185496	0	0
ISCA2	122961	broad.mit.edu	37	14	74961672	74961672	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr14:74961672C>T	uc001xpz.2	+	3	462	c.434C>T	c.(433-435)tCc>tTc	p.S145F	NPC2_uc001xpy.3_5'Flank|NPC2_uc010tus.2_5'Flank	NM_194279	NP_919255	Q86U28	ISCA2_HUMAN	Homo sapiens iron-sulfur cluster assembly 2 homolog (S. cerevisiae) (ISCA2), mRNA.	145					iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00146)		CAAGGCTGCTCCTGTGGGTCA	0.463000														42			41		0	0	0.00222228	0	0
MYH9	4627	broad.mit.edu	37	22	36698686	36698686	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr22:36698686C>T	uc003apg.3	-	19	2658	c.2427G>A	c.(2425-2427)atG>atA	p.M809I	MYH9_uc003aph.1_Missense_Mutation_p.M673I	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	809					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGAGGACCTTCATGGCGGTAA	0.612000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					36			33		0	0	0.000814825	0	0
SERPINF1	5176	broad.mit.edu	37	17	1674330	1674330	+	Silent	SNP	G	A	A			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:1674330G>A	uc002ftl.3	+	3	448	c.291G>A	c.(289-291)gaG>gaA	p.E97E		NM_002615	NP_002606	P36955	PEDF_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA.	97				EQ -> DE (in Ref. 1; AAA60058 and 9; AAB38685).	cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	p.A96V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CAGGAGCGGAGCAGCGAACAG	0.517000														75			61		0	0	0.000781405	0	0
ISLR2	57611	broad.mit.edu	37	15	74426504	74426504	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:74426504A>G	uc002axd.3	+	3	2178	c.1409A>G	c.(1408-1410)aAc>aGc	p.N470S	ISLR2_uc002axe.3_Missense_Mutation_p.N470S|ISLR2_uc010bjg.3_Missense_Mutation_p.N470S|ISLR2_uc010bjf.3_Missense_Mutation_p.N470S|ISLR2_uc021sqe.1_Missense_Mutation_p.N470S	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	470					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TACGTTTCTAACCACGCGTTC	0.662000														10			8		0	0	0.000442599	0	0
POLR1B	84172	broad.mit.edu	37	2	113325561	113325561	+	Silent	SNP	A	G	G			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr2:113325561A>G	uc002thw.2	+	10	2344	c.1764A>G	c.(1762-1764)agA>agG	p.R588R	POLR1B_uc010fkn.2_Silent_p.R532R|POLR1B_uc002thx.2_Silent_p.R449R|POLR1B_uc010fko.2_Silent_p.R405R|POLR1B_uc010fkp.2_Silent_p.R27R|POLR1B_uc002thy.2_Silent_p.R449R|POLR1B_uc010yxo.1_Silent_p.R365R	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	588					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GAGAGAAAAGAATTCCTCCCT	0.463000														34			21		0	0	0.00229938	0	0
UBA5	79876	broad.mit.edu	37	3	132379489	132379489	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr3:132379489delC	uc003epa.4	+	0	350	c.108delC	c.(106-108)ggcfs	p.G36fs	NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.3_Intron|UBA5_uc003epb.4_5'Flank|NPHP3_uc003eov.4_5'Flank|UBA5_uc010hts.1_Non-coding_Transcript	NM_024818	NP_938143	Q9GZZ9	UBA5_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 5 (UBA5), transcript variant 1, mRNA.	36					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|UFM1 activating enzyme activity|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GAGGGGGCGGCCGGGTCCGCA	0.682													---	4	---	---	2	---					
PPARGC1B	133522	broad.mit.edu	37	5	149216399	149216400	+	In_Frame_Ins	INS	-	CAG	CAG			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr5:149216399_149216400insCAG	uc003lrc.3	+	7	2472_2473	c.2381_2382insCAG	c.(2380-2382)gac>gaCAGc	p.799_800insS	PPARGC1B_uc003lrb.2_In_Frame_Ins_p.799_800insS|PPARGC1B_uc003lrd.3_In_Frame_Ins_p.760_761insS|PPARGC1B_uc021yfr.1_In_Frame_Ins_p.735_736insS|PPARGC1B_uc003lre.1_In_Frame_Ins_p.778_779insS|PPARGC1B_uc003lrf.3_In_Frame_Ins_p.778_779insS	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	799	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GTCTTTGAAGACAGCAGCAGCA	0.599													---	49	---	---	53	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr9:43844265delG	uc004ada.2	+	9	2009	c.1599delG	c.(1597-1599)gcgfs	p.A533fs	CNTNAP3B_uc004acz.2_Intron	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													---	3	---	---	4	---					
ARID2	196528	broad.mit.edu	37	12	46285865	46285891	+	Splice_Site	DEL	GAAGTCTTCTACCAAGTAAGGAAAATG	-	-	rs150531382		TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr12:46285865_46285891delGAAGTCTTCTACCAAGTAAGGAAAATG	uc001ros.1	+	18	5147	c.5147_splice	c.e18+1	p.K1716_splice	ARID2_uc001ror.3_Splice_Site_p.K1716_splice|ARID2_uc009zkg.1_Splice_Site_p.K1172_splice|ARID2_uc009zkh.1_Splice_Site_p.K1343_splice|ARID2_uc001rou.1_Splice_Site_p.K1050_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1716					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAGGAAGTCAGAAGTCTTCTACCAAGTAAGGAAAATGAGTTTACTTC	0.396			"""N, S, F"""		hepatocellular carcinoma								---	6	---	---	4	---					
SLTM	79811	broad.mit.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:59182564_59182565delCT	uc002afp.3	-	14	2082_2083	c.1994_1995delAG	c.(1993-1995)gagfs	p.E665fs	SLTM_uc002afn.3_Frame_Shift_Del_p.E207fs|SLTM_uc002afo.3_Frame_Shift_Del_p.E647fs|SLTM_uc002afq.3_Frame_Shift_Del_p.E234fs|SLTM_uc010bgd.3_Frame_Shift_Del_p.E234fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	665	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTAGGCGCTCTCTCTCTCT	0.475													---	149	---	---	7	---					
CHD2	1106	broad.mit.edu	37	15	93444495	93444497	+	In_Frame_Del	DEL	GAG	-	-			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr15:93444495_93444497delGAG	uc002bsp.3	+	1	603_605	c.28_30delGAG	c.(28-30)gagdel	p.E11del	CHD2_uc002bsm.2_In_Frame_Del_p.E11del|CHD2_uc002bsn.3_In_Frame_Del_p.E11del|CHD2_uc002bso.1_In_Frame_Del_p.E11del	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	11					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CAAAAGCCAAGAGGAGGACAGTT	0.399													---	10	---	---	11	---					
FBXW10	10517	broad.mit.edu	37	17	18653309	18653310	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:18653309_18653310insT	uc002gul.3	+	2	1177_1178	c.945_946insT	c.(943-948)atctttfs	p.I315fs	FBXW10_uc002guj.3_Intron|FBXW10_uc002guk.3_Intron|FBXW10_uc010cqh.2_Intron	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	293	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CTGGGTCCATCTTTTTTTTTCC	0.535													---	149	---	---	9	---					
SRP68	6730	broad.mit.edu	37	17	74041436	74041436	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr17:74041436delA	uc002jqk.1	-	11	1366	c.1331delT	c.(1330-1332)ttafs	p.L444fs	SRP68_uc010wsu.1_Frame_Shift_Del_p.L343fs|SRP68_uc002jql.1_Frame_Shift_Del_p.L406fs|SRP68_uc002jqj.1_Frame_Shift_Del_p.L105fs	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	444					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GTCTTCCTCTAAACCAGGAAG	0.448													---	101	---	---	66	---					
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:10262139delT	uc002mng.3	-	22	2332	c.2152delA	c.(2152-2154)atgfs	p.M718fs	DNMT1_uc010xlc.2_Frame_Shift_Del_p.M734fs|DNMT1_uc002mnh.3_Frame_Shift_Del_p.M613fs|DNMT1_uc010xld.2_Frame_Shift_Del_p.M718fs	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	718					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507													---	255	---	---	8	---					
GLTSCR1	29998	broad.mit.edu	37	19	48185390	48185390	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr19:48185390delC	uc002phh.4	+	6	2458	c.2264delC	c.(2263-2265)tccfs	p.S755fs	GLTSCR1_uc002phi.4_Frame_Shift_Del_p.S513fs	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	755							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		AGCCAGGCTTCCCCGGCTCCG	0.741													---	4	---	---	2	---					
UMODL1	89766	broad.mit.edu	37	21	43531807	43531808	+	Frame_Shift_Ins	INS	-	C	C	rs220130	by1000genomes	TCGA-FS-A1ZD-06A-11D-A197-08	TCGA-FS-A1ZD-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ea666b7-2b6e-4df8-9a9d-b8265b9749b4	de373850-b2ca-457e-a345-c7634a1dd4fa	g.chr21:43531807_43531808insC	uc002zag.1	+	10	2475_2476	c.2475_2476insC	c.(2473-2478)aagaccfs	p.K825fs	UMODL1_uc002zad.1_Frame_Shift_Ins_p.K625fs|UMODL1_uc002zae.1_Frame_Shift_Ins_p.K753fs|UMODL1_uc002zaf.1_Frame_Shift_Ins_p.K697fs	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	741	SEA 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGCTCTGAAGACCCCCGCCTG	0.589													---	11	---	---	7	---