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
GPR112	139378	broad.mit.edu	37	X	135453677	135453677	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:135453677C>T	uc004ezu.1	+	13	7878	c.7587C>T	c.(7585-7587)gcC>gcT	p.A2529A	GPR112_uc010nsb.1_Silent_p.A2324A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2529					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAATTCCGCCTCTGATCTGC	0.318000														25			13		0	0	0.013537	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120337	62120338	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:62120337_62120338CC>TT	uc002yfe.1	-	6	1363_1364	c.1197_1198GG>AA	c.(1195-1200)gcggcc>gcAAcc	p.A400T		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	400						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TCCACGATGGCCGCGTCTCCAG	0.639000														39			127		0	0	0.004672	0	0
ZNF700	90592	broad.mit.edu	37	19	12060222	12060222	+	Silent	SNP	T	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:12060222T>A	uc010xme.2	+	4	1628	c.1437T>A	c.(1435-1437)ctT>ctA	p.L479L	ZNF700_uc002msu.3_Silent_p.L461L|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CCTCACACCTTCGAGTGCATG	0.468000														32			5		0	0	0.001168	0	0
SLC4A10	57282	broad.mit.edu	37	2	162627522	162627522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:162627522C>T	uc002ubx.4	+	1	272	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C	SLC4A10_uc010fpa.1_Missense_Mutation_p.R42C|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.R41C|SLC4A10_uc002uby.4_Missense_Mutation_p.R30C	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	30					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGTGGAACTCGTTCTATTCT	0.328000														24			5		0	0	0.001168	0	0
TRPC4	7223	broad.mit.edu	37	13	38266446	38266446	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr13:38266446C>T	uc010abx.3	-	3	1159	c.924G>A	c.(922-924)caG>caA	p.Q308Q	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Silent_p.Q308Q|TRPC4_uc001uws.3_Silent_p.Q308Q|TRPC4_uc010tey.2_Silent_p.Q308Q|TRPC4_uc010abw.3_Silent_p.Q135Q|TRPC4_uc010aby.3_Silent_p.Q308Q	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	308					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATGCCAGCAGCTGTTGACAAT	0.443000														25			5		0	0	0.001168	0	0
NLRP14	338323	broad.mit.edu	37	11	7064040	7064040	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:7064040C>T	uc001mfb.1	+	3	1106	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	261	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTGACAGTTTCGATGAACTGA	0.458000														87			12		0	0	0.010729	0	0
ABCB8	11194	broad.mit.edu	37	7	150739164	150739164	+	Silent	SNP	C	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:150739164C>A	uc003wil.4	+	14	1878	c.1785C>A	c.(1783-1785)acC>acA	p.T595T	ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.3_Silent_p.T578T|ABCB8_uc011kvd.2_Silent_p.T490T|ABCB8_uc003wim.4_Silent_p.T373T|ABCB8_uc003wik.4_Silent_p.T578T	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	595	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTTCATCACCAGCTTCCCCG	0.597000														99			8		1.12685e-05	2.40045e-05	0.004482	1	0
TULP3	7289	broad.mit.edu	37	12	3018702	3018702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:3018702C>T	uc001qlj.2	+	1	130	c.49C>T	c.(49-51)Cat>Tat	p.H17Y	TULP3_uc010sef.1_Non-coding_Transcript|TULP3_uc009zec.1_5'UTR|TULP3_uc010seh.1_Missense_Mutation_p.H17Y|TULP3_uc010sei.1_5'UTR	NM_001160408	NP_001153880	O75386	TULP3_HUMAN	Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA.	17					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CAGTGTCTTCCATGAAGAAAT	0.363000														100			29		0	0	0.007291	0	0
CPEB1	64506	broad.mit.edu	37	15	83226629	83226629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:83226629G>A	uc002bit.3	-	3	804	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	CPEB1_uc002bir.3_Missense_Mutation_p.P88S|CPEB1_uc002bis.3_Missense_Mutation_p.P88S|CPEB1_uc010uod.2_Intron|CPEB1_uc002biq.3_Missense_Mutation_p.P88S|CPEB1_uc010uoe.2_Missense_Mutation_p.P166S|CPEB1_uc002biu.3_Missense_Mutation_p.P190S|CPEB1_uc010uof.2_Missense_Mutation_p.P88S|CPEB1_uc002biv.3_Missense_Mutation_p.P163S|CPEB1_uc002bip.3_5'Flank	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	163					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTAACTGAGGGTGCTGGAAAC	0.567000														82			21		0	0	0.010504	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706228	41706228	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr13:41706228G>A	uc001uxu.1	-	0	709	c.420C>T	c.(418-420)aaC>aaT	p.N140N	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	140							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GGCGCTCCACGTTGGCCTCAC	0.607000														35			7		0	0	0.004482	0	0
USP29	57663	broad.mit.edu	37	19	57640197	57640197	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:57640197C>T	uc002qny.3	+	3	510	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	USP29_uc021vci.1_Nonsense_Mutation_p.Q52*	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	52					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGAATTTTTCAGCTGAGCAA	0.338000														23			7		0	0	0.003080	0	0
PIH1D1	55011	broad.mit.edu	37	19	49949823	49949823	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:49949823G>A	uc002pns.2	-	7	1100	c.816C>T	c.(814-816)ttC>ttT	p.F272F	BC128433_uc002pnr.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	Homo sapiens PIH1 domain containing 1 (PIH1D1), mRNA.	272					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TCTTCCGGTGGAAGGCTGCCT	0.632000														52			18		0	0	0.006122	0	0
RELN	5649	broad.mit.edu	37	7	103230152	103230152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:103230152C>T	uc022ajr.1	-	27	4196	c.4036G>A	c.(4036-4038)Gga>Aga	p.G1346R	RELN_uc022ajq.1_Missense_Mutation_p.G1346R|RELN_uc010liz.3_Missense_Mutation_p.G1346R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1346					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTTCGCATCCTTTGCCTGCA	0.468000														86			75		0	0	0.014410	0	0
DOCK1	1793	broad.mit.edu	37	10	128908530	128908530	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:128908530C>T	uc010qun.2	+	24	2599	c.2535C>T	c.(2533-2535)ttC>ttT	p.F845F	DOCK1_uc001ljt.3_Silent_p.F824F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	824					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTACTGAATTCATCCTCAATG	0.418000														22			5		0	0	0.014758	0	0
DNAH1	25981	broad.mit.edu	37	3	52409265	52409265	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:52409265A>C	uc011bef.2	+	44	7256	c.6995A>C	c.(6994-6996)aAg>aCg	p.K2332T		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2332	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K2332N(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGCCTTCAAGAACCTAGTG	0.552000														18			4		0	0	0.014758	0	0
DHRS3	9249	broad.mit.edu	37	1	12628431	12628431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:12628431C>T	uc001auc.3	-	5	1314	c.847G>A	c.(847-849)Gag>Aag	p.E283K	DHRS3_uc001aub.3_Missense_Mutation_p.E198K	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	283					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGGATCTCCTCGAGTGCAGCC	0.527000														117			26		0	0	0.009535	0	0
ESPN	83715	broad.mit.edu	37	1	6488372	6488372	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:6488372C>T	uc001amy.3	+	1	549	c.381C>T	c.(379-381)ggC>ggT	p.G127G		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	127					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGCATCATGGCGGTGGGGACC	0.632000														79			24		0	0	0.021523	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55049184	55049184	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:55049184G>A	uc010erm.2	+	2	262	c.250_splice	c.e2-1	p.E84_splice	KIR3DX1_uc010yfa.1_Splice_Site|KIR3DX1_uc010yfb.1_Splice_Site|KIR3DX1_uc010yfc.1_Splice_Site|KIR3DX1_uc010yfd.1_Splice_Site					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TTTTTCCTAGGAAACACTAAG	0.413000														55			17		0	0	0.006122	0	0
DNAH5	1767	broad.mit.edu	37	5	13864533	13864533	+	Silent	SNP	A	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:13864533A>C	uc003jfd.2	-	27	4611	c.4569T>G	c.(4567-4569)ccT>ccG	p.P1523P		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1523	Stem (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)					ATTTCAGAAGAGGTGCCTCCA	0.408000									Kartagener syndrome					64			13		0	0	0.003163	0	0
ECEL1	9427	broad.mit.edu	37	2	233347174	233347174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:233347174G>A	uc002vsv.2	-	11	1955	c.1750C>T	c.(1750-1752)Ccc>Tcc	p.P584S	ECEL1_uc010fya.1_Missense_Mutation_p.P582S|ECEL1_uc010fyb.1_Missense_Mutation_p.P291S	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	584					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATGCCCGCGGGGAACACTACA	0.607000														118			33		0	0	0.019004	0	0
GRIN2B	2904	broad.mit.edu	37	12	13722818	13722818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:13722818C>T	uc001rbt.2	-	10	2484	c.2305G>A	c.(2305-2307)Gat>Aat	p.D769N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	769					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACCCAGAATCTTTTTGGATG	0.517000														58			10		0	0	0.008291	0	0
DNAH7	56171	broad.mit.edu	37	2	196651856	196651856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:196651856G>A	uc002utj.4	-	57	10857	c.10756C>T	c.(10756-10758)Cat>Tat	p.H3586Y	DNAH7_uc002uti.4_Missense_Mutation_p.H69Y	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3586	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCAAAGCATGAAAGAAACAC	0.388000														49			12		0	0	0.010729	0	0
PAPPA2	60676	broad.mit.edu	37	1	176681065	176681065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:176681065G>A	uc001gkz.3	+	11	4910	c.3746G>A	c.(3745-3747)aGg>aAg	p.R1249K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1249					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGGATGACAGGAGTGAACAG	0.453000														51			19		0	0	0.008871	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872823	51872823	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:51872823C>T	uc002xwo.3	+	1	3713	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	TSHZ2_uc021wex.1_Silent_p.I939I	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	942					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTACCTACATCAGTCACTTAG	0.493000														136			15		0	0	0.020292	0	0
CD163L1	283316	broad.mit.edu	37	12	7527997	7527997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:7527997G>A	uc010sge.2	-	10	2937	c.2911C>T	c.(2911-2913)Cgt>Tgt	p.R971C	CD163L1_uc001qsy.3_Missense_Mutation_p.R961C	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	961	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCACACACGAACACTTCTT	0.483000														44			9		0	0	0.004482	0	0
LRRC37A2	474170	broad.mit.edu	37	17	45126904	45126904	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:45126904C>T	uc010wkj.1	+	1	456	c.102C>T	c.(100-102)ggC>ggT	p.G34G	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1170						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TCCTCATGGGCCCAAGGAGCA	0.502000														102			30		0	0	0.007291	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863951	6863951	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:6863951C>T	uc003gjr.4	+	6	2305	c.1842C>T	c.(1840-1842)ctC>ctT	p.L614L	KIAA0232_uc003gjq.4_Silent_p.L614L	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	614							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAGTTAGACTCTCTCCCATCT	0.473000														48			14		0	0	0.003163	0	0
NUP93	9688	broad.mit.edu	37	16	56857657	56857657	+	Silent	SNP	A	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:56857657A>C	uc002eka.3	+	7	814	c.693A>C	c.(691-693)acA>acC	p.T231T	NUP93_uc002ekb.3_Silent_p.T108T|NUP93_uc010vhi.2_Silent_p.T108T	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	231					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AACAAATGACAGACGTGTTGT	0.498000														105			23		0	0	0.016522	0	0
KIAA1751	85452	broad.mit.edu	37	1	1903491	1903491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:1903491C>T	uc001aim.1	-	8	972	c.816G>A	c.(814-816)atG>atA	p.M272I	KIAA1751_uc009vkz.1_Missense_Mutation_p.M272I	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	272										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CGTGGCACTCCATCTCCTCCT	0.602000														59			14		0	0	0.004007	0	0
TLL1	7092	broad.mit.edu	37	4	167020441	167020441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:167020441G>A	uc003irh.2	+	19	3316	c.2669G>A	c.(2668-2670)cGa>cAa	p.R890Q	TLL1_uc011cjn.2_Missense_Mutation_p.R913Q|TLL1_uc011cjo.2_Missense_Mutation_p.R714Q	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	890	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTGGCGGACGATTGAAAGCA	0.413000														77			20		0	0	0.008871	0	0
PNPLA7	375775	broad.mit.edu	37	9	140409851	140409851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr9:140409851G>A	uc010ncj.1	-	11	1542	c.1205C>T	c.(1204-1206)cCt>cTt	p.P402L	PNPLA7_uc011mfa.1_Missense_Mutation_p.P109L|PNPLA7_uc004cnf.2_Missense_Mutation_p.P377L	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	377					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.R401T(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGAAGGGTCAGGGTCACCTGC	0.647000														10			3		0	0	0.009096	0	0
MRVI1	10335	broad.mit.edu	37	11	10649302	10649302	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:10649302C>T	uc010rcc.1	-	7	1097	c.711G>A	c.(709-711)ggG>ggA	p.G237G	MRVI1_uc010rcb.1_Silent_p.G229G|MRVI1_uc001miw.2_Silent_p.G228G|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Silent_p.G146G|MRVI1_uc010rcd.1_Silent_p.G237G|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	210					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGGCCTCATCCCCCTTCTGCT	0.552000														80			18		0	0	0.010504	0	0
OTOGL	283310	broad.mit.edu	37	12	80733024	80733024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:80733024C>T	uc001szd.3	+	41	5009	c.5003C>T	c.(5002-5004)tCc>tTc	p.S1668F		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AACTTGTCATCCTACACAGAA	0.353000														222			58		0	0	0.014410	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429209	23429209	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:23429209C>T	uc003xdo.3	+	3	1011	c.858C>T	c.(856-858)ttC>ttT	p.F286F	SLC25A37_uc003xdp.3_Non-coding_Transcript|SLC25A37_uc003xdq.3_Non-coding_Transcript|FP15737_uc003xds.3_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	Homo sapiens solute carrier family 25, member 37 (SLC25A37), nuclear gene encoding mitochondrial protein, mRNA.	286					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CCAATGCCTTCCGGACGGTGT	0.612000														23			4		0	0	0.009096	0	0
TGS1	96764	broad.mit.edu	37	8	56715072	56715072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:56715072C>T	uc003xsj.4	+	8	2293	c.1906C>T	c.(1906-1908)Cct>Tct	p.P636S	TGS1_uc010lyh.3_Missense_Mutation_p.P540S	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Homo sapiens trimethylguanosine synthase 1 (TGS1), mRNA.	636	Sufficient for catalytic activity.				RNA capping|cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGGTCTGCCTCCTGAAATAGC	0.393000														63			15		0	0	0.004007	0	0
PFKM	5213	broad.mit.edu	37	12	48537892	48537892	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:48537892G>A	uc001rrb.2	+	21	2431	c.2157G>A	c.(2155-2157)ggG>ggA	p.G719G	PFKM_uc001rra.2_Silent_p.G333G|PFKM_uc001rrc.3_Silent_p.G648G|PFKM_uc001rrd.3_Silent_p.G333G|PFKM_uc001rre.2_Silent_p.G648G|PFKM_uc021qxj.1_Silent_p.G648G|PFKM_uc001rrg.2_Silent_p.G617G	NM_001166686	NP_001160160	P08237	K6PF_HUMAN	Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.	648					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CTGAGGAGGGGAAGGGCATCT	0.502000														113			34		0	0	0.019004	0	0
HSPG2	3339	broad.mit.edu	37	1	22186396	22186396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:22186396G>A	uc009vqd.3	-	40	5157	c.5117C>T	c.(5116-5118)cCc>cTc	p.P1706L	HSPG2_uc001bfj.3_Missense_Mutation_p.P1705L	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1705	Ig-like C2-type 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			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)	GAAGTAGTGGGGTGGGCTCCC	0.642000														28			10		0	0	0.006214	0	0
KIT	3815	broad.mit.edu	37	4	55561754	55561754	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:55561754C>T	uc010igr.3	+	1	231	c.144C>T	c.(142-144)gtC>gtT	p.V48V	KIT_uc010igs.3_Silent_p.V48V	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	48	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACTTAATAGTCCGCGTGGGCG	0.468000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					36			16		0	0	0.004990	0	0
FAT3	120114	broad.mit.edu	37	11	92087388	92087388	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:92087388G>T	uc001pdj.4	+	0	2127	c.2110G>T	c.(2110-2112)Ggg>Tgg	p.G704W		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	704					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)				AAAAGCAAATGGGAAACTGAA	0.398000										TCGA Ovarian(4;0.039)				426			73		1.63007e-36	3.53826e-36	0.014410	1	0
ANO4	121601	broad.mit.edu	37	12	101493391	101493391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:101493391G>A	uc010svm.1	+	21	2614	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	ANO4_uc001thw.2_Missense_Mutation_p.R646Q|ANO4_uc001thx.2_Missense_Mutation_p.R681Q|ANO4_uc001thy.2_Missense_Mutation_p.R201Q	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	681						chloride channel complex	chloride channel activity	p.R646Q(2)		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						AGAAAAGTACGACAAGAACAT	0.353000										HNSCC(74;0.22)				71			20		0	0	0.014323	0	0
FOXD1	2297	broad.mit.edu	37	5	72743629	72743629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:72743629G>A	uc003kcp.3	-	0	724	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S		NM_004472	NP_004463	Q16676	FOXD1_HUMAN	Homo sapiens forkhead box D1 (FOXD1), mRNA.	187					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		GGCTCGCGGGGGATCTTGACG	0.652000														79			18		0	0	0.008871	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467126	21467126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:21467126C>T	uc003cce.3	-	5	1118	c.710G>A	c.(709-711)gGa>gAa	p.G237E		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	237						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGTGCCACTTCCATTCCGGGC	0.448000														52			14		0	0	0.020292	0	0
TRIM44	54765	broad.mit.edu	37	11	35685280	35685280	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:35685280C>T	uc001mwi.2	+	0	928	c.621C>T	c.(619-621)caC>caT	p.H207H		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	Homo sapiens tripartite motif containing 44 (TRIM44), mRNA.	207						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				TTGGGGCTCACCAGGGCCACC	0.517000														118			16		0	0	0.007413	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	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					49			49		0	0	0.014410	0	0
SOCS3	9021	broad.mit.edu	37	17	76354760	76354760	+	Silent	SNP	T	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:76354760T>A	uc002jvl.2	-	1	833	c.417A>T	c.(415-417)ccA>ccT	p.P139P	SOCS3_uc021uee.1_Silent_p.P139P	NM_003955	NP_003946	O14543	SOCS3_HUMAN	Homo sapiens suppressor of cytokine signaling 3 (SOCS3), mRNA.	139	SH2.				JAK-STAT cascade|anti-apoptosis|interferon-gamma-mediated signaling pathway|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GTTCAGTAGGTGGCGAGGGGA	0.682000														38			9		0	0	0.006214	0	0
TMIE	259236	broad.mit.edu	37	3	46750656	46750656	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:46750656G>A	uc010hjk.1	+	2	407	c.252G>A	c.(250-252)cgG>cgA	p.R84R	TMIE_uc010hjj.1_Missense_Mutation_p.D124N	NM_147196	NP_671729	Q8NEW7	TMIE_HUMAN	Homo sapiens transmembrane inner ear (TMIE), mRNA.	84			R -> W (in DFNB6; dbSNP:rs28942097).			integral to membrane				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		GTGTGCCACGGACCCGGAAGG	0.582000														55			12		0	0	0.016723	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31516145	31516145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:31516145G>A	uc003nub.3	+	1	382	c.263G>A	c.(262-264)gGg>gAg	p.G88E	DDX39B_uc003ntv.3_5'Flank|ATP6V1G2_uc003ntz.3_5'Flank|ATP6V1G2_uc003nua.3_5'Flank|ATP6V1G2_uc021yur.1_5'Flank|NFKBIL1_uc011dnr.2_Missense_Mutation_p.G65E|NFKBIL1_uc011dns.2_Missense_Mutation_p.G65E|NFKBIL1_uc011dnt.1_Non-coding_Transcript|NFKBIL1_uc003nuc.3_Missense_Mutation_p.G88E	NM_005007	NP_001138434	Q9UBC1	IKBL1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.	88					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CTTCGGCTCGGGGCTGACCCT	0.692000														16			5		0	0	0.014758	0	0
A1CF	29974	broad.mit.edu	37	10	52596009	52596009	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:52596009G>A	uc001jjj.3	-	5	617	c.429C>T	c.(427-429)atC>atT	p.I143I	A1CF_uc010qho.2_Silent_p.I151I|A1CF_uc010qhn.2_Silent_p.I151I|A1CF_uc009xov.3_Silent_p.I143I|A1CF_uc001jji.3_Silent_p.I143I|A1CF_uc001jjh.3_Silent_p.I151I	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	143	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGGTTTTTGGGATGCCCCCAA	0.448000														49			12		0	0	0.010729	0	0
FOXA2	3170	broad.mit.edu	37	20	22562615	22562615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:22562615G>A	uc002wsm.3	-	1	1450	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F	FOXA2_uc002wsn.3_Missense_Mutation_p.S416F	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	416	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					AGGCATGGGGGAACCGTAGCC	0.637000														75			23		0	0	0.004656	0	0
LCE1B	353132	broad.mit.edu	37	1	152785221	152785221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:152785221C>T	uc001faq.3	+	0	775	c.299C>T	c.(298-300)tCc>tTc	p.S100F		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	100	Gly-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCAGCCCTCCGGGGGCTCC	0.622000														41			17		0	0	0.007413	0	0
LILRA1	11024	broad.mit.edu	37	19	55107797	55107797	+	Missense_Mutation	SNP	C	T	T	rs143023552	byFrequency	TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:55107797C>T	uc002qgh.1	+	6	1284	c.1102C>T	c.(1102-1104)Cgt>Tgt	p.R368C	LILRA1_uc010yfg.1_Missense_Mutation_p.R366C|LILRA1_uc010yfh.2_Missense_Mutation_p.R368C	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	368	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGCCCCCCTCCGTCTCAGATC	0.577000														103			16		0	0	0.006122	0	0
USP6	9098	broad.mit.edu	37	17	5042836	5042836	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:5042836C>T	uc002gau.1	+	21	3595	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	USP6_uc002gav.1_Silent_p.P455P|USP6_uc010ckz.1_Silent_p.P138P|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	455					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGTCAATGCCCCGGCTCCCAA	0.607000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									58			17		0	0	0.004990	0	0
MTDH	92140	broad.mit.edu	37	8	98735188	98735188	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:98735188C>T	uc003yhz.3	+	10	1931	c.1603C>T	c.(1603-1605)Caa>Taa	p.Q535*	MTDH_uc010mbf.3_Non-coding_Transcript	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	535					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	p.S534F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GAGCTCTTCCCAAGTGCCGCC	0.393000														69			225		0	0	0.014410	0	0
A2ML1	144568	broad.mit.edu	37	12	8990983	8990983	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:8990983C>G	uc001quz.4	+	8	1005	c.907C>G	c.(907-909)Ctc>Gtc	p.L303V		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	147						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CACCTTTGACCTCATTGGATA	0.453000														94			24		0	0	0.021523	0	0
SERPINB2	5055	broad.mit.edu	37	18	61558795	61558795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr18:61558795G>A	uc010xeu.2	+	2	450	c.117G>A	c.(115-117)atG>atA	p.M39I	SERPINB2_uc002ljo.3_Missense_Mutation_p.M39I	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	39					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CGTCCACCATGGCCATGGTCT	0.542000														46			8		0	0	0.004482	0	0
INTS3	65123	broad.mit.edu	37	1	153732863	153732863	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:153732863C>T	uc009wom.3	+	12	1535	c.1314C>T	c.(1312-1314)tgC>tgT	p.C438C	INTS3_uc001fct.3_Silent_p.C438C|INTS3_uc001fcu.3_Silent_p.C130C|INTS3_uc001fcv.3_Silent_p.C232C|INTS3_uc010peb.2_Silent_p.C232C|INTS3_uc001fcw.3_5'UTR|INTS3_uc010pec.2_Intron	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	439					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	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)			ACTTCATGTGCCGCGTAAGTG	0.527000														33			10		0	0	0.008291	0	0
NNT	23530	broad.mit.edu	37	5	43651923	43651923	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:43651923C>T	uc003joe.3	+	12	2055	c.1800C>T	c.(1798-1800)ctC>ctT	p.L600L	NNT_uc003jof.3_Silent_p.L600L	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	600					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGTACCTGCTCCCTGCCGGCA	0.453000														124			28		0	0	0.013726	0	0
AOC3	8639	broad.mit.edu	37	17	41004605	41004605	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:41004605C>T	uc002ibv.3	+	0	1405	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	415					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACTGGCACTTCCTTTTGGAGT	0.592000														62			15		0	0	0.003163	0	0
NR1H2	7376	broad.mit.edu	37	19	50881459	50881460	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:50881459_50881460CC>TT	uc010enw.3	+	4	704_705	c.235_236CC>TT	c.(235-237)ccg>TTg	p.P79L	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Intron	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	79					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.P79Q(2)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGGCCCAGCCCCGAAGATGCTG	0.604000														150			39		0	0	0.004672	0	0
FAM82A1	151393	broad.mit.edu	37	2	38178791	38178791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:38178791G>A	uc002rqn.2	+	1	559	c.433G>A	c.(433-435)Gat>Aat	p.D145N	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						CATTTTTTTTGATCCTCAAGC	0.348000														55			16		0	0	0.003163	0	0
C11orf9	745	broad.mit.edu	37	11	61533566	61533566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:61533566C>T	uc001nsc.1	+	2	367	c.271C>T	c.(271-273)Cca>Tca	p.P91S	C11orf9_uc001nse.1_Missense_Mutation_p.P82S	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	91	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						TGGTCCCCTCCCACCCCCGGG	0.736000														21			4		0	0	0.009096	0	0
ZNF217	7764	broad.mit.edu	37	20	52193137	52193137	+	Silent	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:52193137T>C	uc002xwq.4	-	2	2508	c.2166A>G	c.(2164-2166)ccA>ccG	p.P722P	ZNF217_uc010gij.1_Silent_p.P714P	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	722					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTAAAACTTCTGGATAAAATG	0.408000														187			17		0	0	0.004990	0	0
RBM6	10180	broad.mit.edu	37	3	50005389	50005389	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:50005389C>T	uc003cyc.3	+	2	779	c.531C>T	c.(529-531)ggC>ggT	p.G177G	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	177					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACTTCAGGGGCCGGGGCACTT	0.483000														59			13		0	0	0.013537	0	0
NLRP3	114548	broad.mit.edu	37	1	247587254	247587254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:247587254G>A	uc001icr.3	+	4	647	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	NLRP3_uc001ics.3_Missense_Mutation_p.R170Q|NLRP3_uc001icu.3_Missense_Mutation_p.R170Q|NLRP3_uc001icw.3_Missense_Mutation_p.R170Q|NLRP3_uc001icv.3_Missense_Mutation_p.R170Q|NLRP3_uc010pyw.2_Missense_Mutation_p.R168Q|NLRP3_uc001ict.1_Missense_Mutation_p.R168Q	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	170					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CGCTACACACGACTGCGTCTC	0.552000														20			8		0	0	0.003080	0	0
SPINK5	11005	broad.mit.edu	37	5	147466006	147466006	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:147466006G>A	uc003lox.2	+	4	394	c.321G>A	c.(319-321)ggG>ggA	p.G107G	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Silent_p.G79G|SPINK5_uc010jgr.2_Silent_p.G88G|SPINK5_uc003low.2_Silent_p.G107G|SPINK5_uc003loy.2_Silent_p.G107G	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	107	Kazal-like 2.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGAGATGGGGATTTTATCT	0.363000														92			15		0	0	0.004007	0	0
NEB	4703	broad.mit.edu	37	2	152512464	152512464	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:152512464T>C	uc021vrb.1	-	47	6598	c.6569A>G	c.(6568-6570)gAg>gGg	p.E2190G	NEB_uc002txu.3_Missense_Mutation_p.E2190G|NEB_uc021vrc.1_Missense_Mutation_p.E2190G|NEB_uc010fnx.3_Missense_Mutation_p.E2190G|NEB_uc021vrd.1_Missense_Mutation_p.E2190G	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2190					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	p.V2189E(1)		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)		CTTGGCCTTCTCCACTTCCAG	0.433000														63			20		0	0	0.007413	0	0
SCAMP3	10067	broad.mit.edu	37	1	155230209	155230209	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:155230209C>T	uc001fjs.3	-	3	534	c.300G>A	c.(298-300)ctG>ctA	p.L100L	SCAMP3_uc001fjt.3_Silent_p.L74L	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Homo sapiens secretory carrier membrane protein 3 (SCAMP3), transcript variant 1, mRNA.	100					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGTTTCTTCAGCAGCTCAG	0.622000														53			12		0	0	0.010729	0	0
TM4SF20	79853	broad.mit.edu	37	2	228228545	228228545	+	Silent	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:228228545T>C	uc002vpb.2	-	3	623	c.585A>G	c.(583-585)ctA>ctG	p.L195L		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	Homo sapiens transmembrane 4 L six family member 20 (TM4SF20), mRNA.	195						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CAACAAGCAATAGACCTAAAA	0.448000														86			7		0	0	0.001984	0	0
NCAN	1463	broad.mit.edu	37	19	19349170	19349170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:19349170C>T	uc002nlz.3	+	10	3458	c.3359C>T	c.(3358-3360)tCc>tTc	p.S1120F	NCAN_uc010ecc.1_Missense_Mutation_p.S684F|NCAN_uc002nma.3_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1120	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.R1119S(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CGCCGCCGCTCCGGCCACCTG	0.652000														105			23		0	0	0.004656	0	0
PNPLA4	8228	broad.mit.edu	37	X	7870112	7870112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:7870112G>A	uc011mhq.1	-	5	710	c.548C>T	c.(547-549)cCc>cTc	p.P183L	PNPLA4_uc011mhr.1_Missense_Mutation_p.P183L|PNPLA4_uc011mhs.1_Missense_Mutation_p.P96L	NM_004650	NP_001166143	P41247	PLPL4_HUMAN	Homo sapiens patatin-like phospholipase domain containing 4 (PNPLA4), transcript variant 1, mRNA.	183					lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TCCACTGAAGGGGGAGATGGT	0.532000														20			22		0	0	0.014323	0	0
TM4SF5	9032	broad.mit.edu	37	17	4686323	4686323	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:4686323G>A	uc002fyw.1	+	3	601	c.570G>A	c.(568-570)agG>agA	p.R190R		NM_003963	NP_003954	O14894	T4S5_HUMAN	Homo sapiens transmembrane 4 L six family member 5 (TM4SF5), mRNA.	190						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GCGATTGCAGGAAAAAACAGG	0.562000														66			14		0	0	0.006122	0	0
CT47B1	643311	broad.mit.edu	37	X	120007782	120007782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:120007782C>T	uc011muc.2	-	1	1123	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	290										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ACCTTGTTTTCCACATCCTTC	0.453000														227			191		0	0	0.014410	0	0
INSC	387755	broad.mit.edu	37	11	15260544	15260544	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:15260544C>T	uc001mlz.3	+	10	1428	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V	INSC_uc001mly.3_Silent_p.V486V|INSC_uc001mma.3_Silent_p.V439V|INSC_uc010rcs.2_Silent_p.V474V|INSC_uc001mmb.3_Silent_p.V439V|INSC_uc001mmc.3_Silent_p.V397V	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	486					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GTGAGCGAGTCCAGCAGAAAG	0.597000														35			7		0	0	0.004482	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601355	46601355	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:46601355C>T	uc009zkj.1	-	6	1123	c.438G>A	c.(436-438)ggG>ggA	p.G146G	SLC38A1_uc001rpb.3_Silent_p.G146G|SLC38A1_uc001rpc.3_Silent_p.G146G|SLC38A1_uc001rpd.3_Silent_p.G146G|SLC38A1_uc001rpe.3_Silent_p.G146G|SLC38A1_uc010slh.2_Silent_p.G119G|SLC38A1_uc001rpa.3_Silent_p.G146G	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	146					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	p.G146E(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTACGAACTTCCCTGTGGTGC	0.408000														88			22		0	0	0.016522	0	0
PENK	5179	broad.mit.edu	37	8	57353905	57353905	+	Missense_Mutation	SNP	C	T	T	rs149967411		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:57353905C>T	uc003xsz.2	-	1	811	c.730G>A	c.(730-732)Gac>Aac	p.D244N	PENK_uc003xta.3_Missense_Mutation_p.D244N	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	244					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTTCTTCGTCGGAGGGCAGA	0.493000														97			23		0	0	0.014323	0	0
BPIFA3	128861	broad.mit.edu	37	20	31814777	31814777	+	Silent	SNP	G	A	A	rs139539413		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:31814777G>A	uc002wyr.3	+	5	871	c.663G>A	c.(661-663)gtG>gtA	p.V221V	BPIFA3_uc002wys.3_Silent_p.V185V	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.	221						extracellular region	lipid binding	p.V221V(1)									AGCTGGATGTGAAACTGTTGA	0.542000														69			14		0	0	0.020292	0	0
TH	7054	broad.mit.edu	37	11	2189398	2189398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:2189398G>A	uc001lvq.3	-	4	611	c.592C>T	c.(592-594)Cca>Tca	p.P198S	TH_uc001lvp.3_Missense_Mutation_p.P194S|TH_uc001lvr.3_Missense_Mutation_p.P167S|TH_uc010qxj.2_Missense_Mutation_p.P171S|TH_uc001lvs.3_Missense_Mutation_p.P167S|TH_uc001lvt.3_Missense_Mutation_p.P171S|TH_uc009ydh.1_Non-coding_Transcript	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	198					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ACTTTTCTTGGGAACCAGGGG	0.572000														55			12		0	0	0.003163	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706224	41706224	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr13:41706224C>G	uc001uxu.1	-	0	713	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	142							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TACAGGCGCTCCACGTTGGCC	0.612000														36			9		0	0	0.008291	0	0
LRBA	987	broad.mit.edu	37	4	151773051	151773051	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:151773051G>A	uc010ipj.3	-	22	4055	c.3811C>T	c.(3811-3813)Cga>Tga	p.R1271*	LRBA_uc003ilt.4_5'Flank|LRBA_uc003ilu.4_Nonsense_Mutation_p.R1271*	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1271						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGCACATGTCGATGAGGTTGA	0.373000														38			9		0	0	0.006214	0	0
GPR124	25960	broad.mit.edu	37	8	37693122	37693122	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:37693122C>T	uc003xkj.3	+	12	2270	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	GPR124_uc010lvy.3_Intron	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	628					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TATTCTCATCCCTTCCGGCTG	0.647000														87			8		0	0	0.004482	0	0
GRIA1	2890	broad.mit.edu	37	5	153030046	153030046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:153030046C>T	uc011dcy.2	+	3	674	c.647C>T	c.(646-648)tCa>tTa	p.S216L	GRIA1_uc003lva.4_Missense_Mutation_p.S206L|GRIA1_uc003luy.4_Missense_Mutation_p.S206L|GRIA1_uc003luz.4_Missense_Mutation_p.S111L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.S126L|GRIA1_uc011dcx.2_Missense_Mutation_p.S137L|GRIA1_uc011dcz.2_Missense_Mutation_p.S216L|GRIA1_uc010jia.1_Missense_Mutation_p.S186L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	206					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.Q215H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACTGTGAATCAGAACGCCTC	0.527000														50			15		0	0	0.007413	0	0
RFPL2	10739	broad.mit.edu	37	22	32586943	32586943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr22:32586943G>A	uc003amg.3	-	4	1889	c.953C>T	c.(952-954)tCc>tTc	p.S318F	RFPL2_uc003ame.3_Missense_Mutation_p.S257F|RFPL2_uc003amf.3_Missense_Mutation_p.S228F|RFPL2_uc003amh.3_Missense_Mutation_p.S228F	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	318	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						ATCAAAAAAGGAAACGTTCTG	0.512000														57			10		0	0	0.020292	0	0
PGR	5241	broad.mit.edu	37	11	100922294	100922294	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:100922294G>A	uc001pgh.2	-	4	2961	c.2218C>T	c.(2218-2220)Cga>Tga	p.R740*	PGR_uc001pgg.2_Nonsense_Mutation_p.R121*|PGR_uc001pgi.2_Nonsense_Mutation_p.R638*|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	740	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R740Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGTAAGTTTCGAAAACCTACA	0.323000														70			10		0	0	0.008291	0	0
VPS13B	157680	broad.mit.edu	37	8	100847802	100847802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:100847802C>T	uc003yiv.3	+	53	9964	c.9853C>T	c.(9853-9855)Ccc>Tcc	p.P3285S	VPS13B_uc003yiw.3_Missense_Mutation_p.P3260S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3285					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAAAAAATTCCCTCCGAGTG	0.388000														95			16		0	0	0.006122	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40840998	40840998	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:40840998C>T	uc002iay.3	+	9	1777	c.1561C>T	c.(1561-1563)Ctg>Ttg	p.L521L	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	521	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CAACCTGACTCTGGTGGAGGG	0.562000														76			14		0	0	0.020292	0	0
COL9A3	1299	broad.mit.edu	37	20	61450607	61450608	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:61450607_61450608CC>TT	uc002ydm.3	+	3	220_221	c.217_218CC>TT	c.(217-219)cca>TTa	p.P73L		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	73	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GCCGGGGAAACCAGGAGAGGCT	0.693000														54			21		0	0	0.004672	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175394	143175394	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:143175394C>T	uc003wdc.1	+	0	429	c.429C>T	c.(427-429)atC>atT	p.I143I	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	143					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCTCCTTCATCATAACCCTGC	0.453000														74			9		0	0	0.004482	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154282	248154282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:248154282C>T	uc001idv.1	+	0	714	c.470C>T	c.(469-471)tCg>tTg	p.S157L	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						AAGGCCTATTCGACCTGCAGC	0.493000														59			22		0	0	0.016522	0	0
ASPM	259266	broad.mit.edu	37	1	197115410	197115411	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:197115410_197115411CC>TT	uc001gtu.3	-	0	414_415	c.157_158GG>AA	c.(157-159)ggg>AAg	p.G53K	ASPM_uc001gtv.3_Missense_Mutation_p.G53K|ASPM_uc001gtw.4_5'UTR	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	53					mitosis	cytoplasm|nucleus	calmodulin binding	p.G53W(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAGAACGTCCCCGAAGCAAAGG	0.678000														149			21		0	0	0.004672	0	0
SNCAIP	9627	broad.mit.edu	37	5	121780263	121780263	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:121780263G>A	uc003ksw.1	+	7	1634	c.1428G>A	c.(1426-1428)ttG>ttA	p.L476L	SNCAIP_uc011cwl.1_Silent_p.L34L|SNCAIP_uc003ksy.1_Silent_p.L110L|SNCAIP_uc003ksx.1_Silent_p.L523L|SNCAIP_uc003ksz.1_Silent_p.L110L|SNCAIP_uc010jcu.2_Silent_p.L72L|SNCAIP_uc011cwm.1_Silent_p.L110L|SNCAIP_uc003kta.1_Silent_p.L108L|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.L170L|SNCAIP_uc010jcx.1_Silent_p.L416L|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_5'UTR	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	476					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GACAGACCTTGGTTGAATATG	0.483000														84			19		0	0	0.012319	0	0
COL12A1	1303	broad.mit.edu	37	6	75799907	75799907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:75799907C>T	uc021zbv.1	-	61	8895	c.8860G>A	c.(8860-8862)Gga>Aga	p.G2954R	COL12A1_uc021zbw.1_Missense_Mutation_p.G1790R|COL12A1_uc003phs.3_Missense_Mutation_p.G2954R|COL12A1_uc003pht.3_Missense_Mutation_p.G1790R	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2954	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCTCTGGCTCCTGCGCTACCA	0.622000														201			70		0	0	0.014410	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880571	42880571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:42880571G>A	uc001chi.2	+	4	1240	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	368					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CACAATGGGGGCCCCACCCTC	0.483000														83			15		0	0	0.004990	0	0
MICAL2	9645	broad.mit.edu	37	11	12248673	12248673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:12248673C>T	uc001mjz.3	+	14	2278	c.1990C>T	c.(1990-1992)Cca>Tca	p.P664S	MICAL2_uc010rch.1_Missense_Mutation_p.P664S|MICAL2_uc001mka.3_Missense_Mutation_p.P664S|MICAL2_uc010rci.2_Missense_Mutation_p.P664S|MICAL2_uc001mkb.3_Missense_Mutation_p.P664S|MICAL2_uc001mkc.3_Missense_Mutation_p.P664S|MICAL2_uc001mkd.3_Missense_Mutation_p.P493S|MICAL2_uc010rcj.2_Missense_Mutation_p.P66S	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	664						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAAGAGGACTCCACGGGTAAG	0.453000														31			8		0	0	0.004482	0	0
ADAR	103	broad.mit.edu	37	1	154558739	154558739	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:154558739G>A	uc001ffh.3	-	11	3362	c.3120C>T	c.(3118-3120)atC>atT	p.I1040I	ADAR_uc021pag.1_Silent_p.I745I|ADAR_uc001ffj.3_Silent_p.I995I|ADAR_uc001ffi.3_Silent_p.I1014I|ADAR_uc001ffk.3_Silent_p.I745I	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	1040	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	p.K1039R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCCAGCGTAGGATTTTGTCAC	0.552000														70			21		0	0	0.014323	0	0
TTN	7273	broad.mit.edu	37	2	179645974	179645974	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:179645974T>G	uc021vsy.1	-	20	3622	c.3397A>C	c.(3397-3399)Aac>Cac	p.N1133H	TTN_uc021vsz.1_Missense_Mutation_p.N1087H|TTN_uc021vta.1_Missense_Mutation_p.N1087H|TTN_uc021vtb.1_Missense_Mutation_p.N1087H|TTN_uc002unb.2_Missense_Mutation_p.N1133H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1133	Ig-like 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTGTTTGTTGTAACTCACT	0.343000														43			4		0	0	0.014758	0	0
LPHN2	23266	broad.mit.edu	37	1	82408687	82408687	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:82408687G>A	uc001dit.4	+	5	613	c.432G>A	c.(430-432)gtG>gtA	p.V144V	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.V144V|LPHN2_uc001div.3_Silent_p.V144V|LPHN2_uc009wcd.3_Silent_p.V144V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	144	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGCAATTGTGGACTCACCAT	0.408000														100			28		0	0	0.008361	0	0
DHPS	1725	broad.mit.edu	37	19	12791116	12791116	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:12791116C>T	uc002muh.2	-	1	352	c.231G>A	c.(229-231)ctG>ctA	p.L77L	DHPS_uc002mug.2_Silent_p.L35L|DHPS_uc002mui.2_Silent_p.L77L|DHPS_uc002muk.2_Non-coding_Transcript|DHPS_uc010xmn.2_Non-coding_Transcript	NM_001930	NP_001921	P49366	DHYS_HUMAN	Homo sapiens deoxyhypusine synthase (DHPS), transcript variant 1, mRNA.	77					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	CATCCTGTGACAGTGGTTCCA	0.537000														113			24		0	0	0.016522	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62329813	62329813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:62329813C>T	uc002yfy.3	+	6	1428	c.800C>T	c.(799-801)gCg>gTg	p.A267V	RTEL1_uc002yfw.3_Non-coding_Transcript|TNFRSF6B_uc002yfz.3_Missense_Mutation_p.A267V	NM_003823	NP_003814	O95407	TNF6B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), mRNA.	267					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CTCCTGGGGGCGCAGGACGGG	0.761000														12			25		0	0	0.004656	0	0
FAM86FP	653113	broad.mit.edu	37	12	8384397	8384397	+	RNA	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:8384397C>T	uc010sgk.2	-	4		c.1391G>A								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		CCCCAGGGCCCCTGCTGTCCT	0.587000														34			4		0	0	0.009096	0	0
APBB1	322	broad.mit.edu	37	11	6422601	6422601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:6422601G>A	uc001mdb.1	-	9	1656	c.1556C>T	c.(1555-1557)tCt>tTt	p.S519F	APBB1_uc001mdd.3_Missense_Mutation_p.S299F|APBB1_uc001mdc.1_Missense_Mutation_p.S519F|APBB1_uc010rab.2_Missense_Mutation_p.S46F|APBB1_uc010rad.2_Missense_Mutation_p.S238F	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	521					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CACAAGTTTAGAGTGGTCCAG	0.542000														34			11		0	0	0.010729	0	0
RYR2	6262	broad.mit.edu	37	1	237947632	237947632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:237947632C>T	uc001hyl.1	+	89	12740	c.12620C>T	c.(12619-12621)tCg>tTg	p.S4207L	RYR2_uc010pya.2_Missense_Mutation_p.S622L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4207					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTCAGATCTCGGAGTCGGAC	0.527000														48			13		0	0	0.016723	0	0
PROX1	5629	broad.mit.edu	37	1	214170185	214170185	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:214170185A>T	uc001hkh.3	+	1	579	c.307A>T	c.(307-309)Aaa>Taa	p.K103*	PROX1_uc001hkg.1_Nonsense_Mutation_p.K103*	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	103					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TAACATGAACAAAAATGGTGG	0.483000														77			23		0	0	0.016522	0	0
DHRS4	10901	broad.mit.edu	37	14	24517982	24517982	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr14:24517982C>T	uc010alc.3	+	7	637	c.637C>T	c.(637-639)Cta>Tta	p.L213L	DHRS4_uc021rrd.1_Silent_p.L82L|DHRS4_uc021rrf.1_Silent_p.L208L|DHRS4_uc010tnu.2_Non-coding_Transcript|DHRS4_uc021rrg.1_Non-coding_Transcript|DHRS4_uc021rrh.1_Non-coding_Transcript|DHRS4_uc021rri.1_Non-coding_Transcript|DHRS4_uc021rrj.1_Intron	NM_001082488	NP_001075957	Q9BTZ2	DHRS4_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 4 like 1 (DHRS4L1), mRNA.	210						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	p.G213E(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GGTGAACTGCCTAGCACCTGG	0.527000														76			34		0	0	0.021022	0	0
ZNF716	441234	broad.mit.edu	37	7	57528514	57528514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:57528514G>A	uc011kdi.1	+	3	459	c.347G>A	c.(346-348)gGa>gAa	p.G116E		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AGAAGATATGGAAAATGTGGA	0.363000														39			11		0	0	0.008291	0	0
TBX22	50945	broad.mit.edu	37	X	79282277	79282277	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:79282277C>T	uc010nmg.1	+	5	842	c.708C>T	c.(706-708)tcC>tcT	p.S236S	TBX22_uc004edi.1_Silent_p.S116S|TBX22_uc004edj.1_Silent_p.S236S	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	236					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTGACCTGTCCCAGATTCAGT	0.448000														27			19		0	0	0.007413	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254013	39254013	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:39254013G>C	uc010wfo.2	-	0	363	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	108	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.S108R(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcttgcagcagctggacacac	0.662000														26			3		0	0	0.014758	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568396	140568396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:140568396C>T	uc003liw.1	+	1	1502	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCGCCTCCCTGGTCTCC	0.657000														145			41		0	0	0.010771	0	0
RUNX2	860	broad.mit.edu	37	6	45399682	45399682	+	Missense_Mutation	SNP	G	A	A	rs104893995		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:45399682G>A	uc011dvx.2	+	3	716	c.506G>A	c.(505-507)cGg>cAg	p.R169Q	RUNX2_uc011dvy.2_Missense_Mutation_p.R169Q|RUNX2_uc003oxt.3_Missense_Mutation_p.R155Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	169	Runt.		R -> P (in CLCD).|R -> Q (in CLCD).		negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCTGAGCTCCGGAATGCCTCT	0.478000														104			22		0	0	0.014323	0	0
PHACTR3	116154	broad.mit.edu	37	20	58322850	58322850	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr20:58322850G>A	uc002yau.3	+	2	785	c.318G>A	c.(316-318)gaG>gaA	p.E106E	PHACTR3_uc002yat.3_Silent_p.E103E|PHACTR3_uc010zzw.2_Silent_p.E65E|PHACTR3_uc002yav.3_Silent_p.E65E|PHACTR3_uc002yaw.3_Silent_p.E65E|PHACTR3_uc002yax.3_Silent_p.E65E	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	106						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGGCCGAGAGGAGCTCATCA	0.592000														209			139		0	0	0.014410	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828683	144828683	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:144828683C>G	uc009wig.1	+	21	2916	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	910								p.Q577E(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATTTGAGGAACAGCACATCAG	0.438000														223			32		0	0	0.012213	0	0
SUSD2	56241	broad.mit.edu	37	22	24583578	24583578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr22:24583578C>T	uc002zzn.1	+	11	1975	c.1931C>T	c.(1930-1932)tCc>tTc	p.S644F		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	644	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACCTACGATTCCTGGTTCCTG	0.622000														61			13		0	0	0.003163	0	0
SLC36A1	206358	broad.mit.edu	37	5	150838401	150838401	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:150838401C>T	uc003luc.3	+	1	265	c.48C>T	c.(46-48)tcC>tcT	p.S16S	SLC36A1_uc003lub.1_Silent_p.S16S|SLC36A1_uc010jhw.1_Silent_p.S16S	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	16					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	ACTACAGCTCCACGGACGTGA	0.592000														47			7		0	0	0.001984	0	0
PDE11A	50940	broad.mit.edu	37	2	178592803	178592803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:178592803C>T	uc002ulq.3	-	10	2204	c.1886G>A	c.(1885-1887)cGg>cAg	p.R629Q	PDE11A_uc002ulp.3_Missense_Mutation_p.R185Q|PDE11A_uc002ulr.3_Missense_Mutation_p.R379Q|PDE11A_uc002uls.1_Missense_Mutation_p.R271Q|PDE11A_uc002ult.1_Missense_Mutation_p.R379Q|PDE11A_uc002ulu.1_Missense_Mutation_p.R271Q	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	629					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R629L(2)|p.R379L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CATGAACATCCGGAGAGCAGC	0.463000									Primary Pigmented Nodular Adrenocortical Disease, Familial					39			16		0	0	0.004007	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074637	106074637	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:106074637G>A	uc001kyf.3	-	2	1626	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	ITPRIP_uc001kye.3_Silent_p.F391F|ITPRIP_uc001kyg.3_Silent_p.F391F|ITPRIP_uc021pxv.1_Silent_p.F391F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	391						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCGTCCTGAGGAAGTGTCGCT	0.617000														40			17		0	0	0.004007	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578462	67578462	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:67578462C>T	uc003xwn.3	-	0	991	c.732G>A	c.(730-732)caG>caA	p.Q244Q	SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	244	OTU.				protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GCTGAAAGTGCTGTTTAAGAT	0.512000														49			8		0	0	0.003080	0	0
FAT4	79633	broad.mit.edu	37	4	126369632	126369632	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:126369632G>A	uc003ifj.4	+	8	7461	c.7461G>A	c.(7459-7461)gcG>gcA	p.A2487A	FAT4_uc011cgp.2_Silent_p.A785A|FAT4_uc003ifi.1_5'UTR	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2487	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGTCTTTGCGGTTACAGTCA	0.368000														88			12		0	0	0.004007	0	0
SCN2A	6326	broad.mit.edu	37	2	166164425	166164425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:166164425C>T	uc002udc.3	+	3	744	c.454C>T	c.(454-456)Cca>Tca	p.P152S	SCN2A_uc002udd.3_Missense_Mutation_p.P152S|SCN2A_uc002ude.3_Missense_Mutation_p.P152S	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	152					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAGTAACCCTCCAGACTGGAC	0.348000														195			37		0	0	0.008740	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098748	92098748	+	Silent	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:92098748T>C	uc022ahe.1	-	0	948	c.948A>G	c.(946-948)aaA>aaG	p.K316K		NM_014590	NP_055405	Q9UQF0	ENW1_HUMAN	Homo sapiens endogenous retrovirus group W, member 1 (ERVW-1), transcript variant 1, mRNA.	316					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						tgggtactcttttgttgcggg	0.433000														144			27		0	0	0.006320	0	0
DDX11L11	0	broad.mit.edu	37	12	92119	92119	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:92119T>C	uc010sdi.1	-	1	219	c.191A>G	c.(190-192)cAc>cGc	p.H64R	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		CGCCAGGCAGTGGTGCAGCTG	0.592000														29			3		0	0	0.004672	0	0
KIF14	9928	broad.mit.edu	37	1	200587607	200587607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:200587607G>A	uc010ppk.1	-	1	684	c.245C>T	c.(244-246)cCt>cTt	p.P82L	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	82	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TACAGGATTAGGGGTAAGGGG	0.388000														68			12		0	0	0.020292	0	0
PTPRD	5789	broad.mit.edu	37	9	8521384	8521384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr9:8521384C>T	uc003zkk.3	-	19	1597	c.854G>A	c.(853-855)gGa>gAa	p.G285E	PTPRD_uc003zkp.3_Missense_Mutation_p.G285E|PTPRD_uc003zkq.3_Missense_Mutation_p.G285E|PTPRD_uc003zkr.3_Missense_Mutation_p.G279E|PTPRD_uc003zks.3_Missense_Mutation_p.G275E|PTPRD_uc022bdj.1_Missense_Mutation_p.G282E	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	285	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACATTTCTTCCTATTGGCAT	0.443000										TSP Lung(15;0.13)				71			25		0	0	0.018920	0	0
ATP13A4	84239	broad.mit.edu	37	3	193207530	193207530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:193207530C>T	uc003ftd.3	-	6	835	c.727G>A	c.(727-729)Gat>Aat	p.D243N	ATP13A4_uc003fte.1_Missense_Mutation_p.D243N|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	243					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCTCTGAGATCATATACTGTC	0.313000														161			34		0	0	0.017118	0	0
NEUROG2	63973	broad.mit.edu	37	4	113435952	113435952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:113435952G>A	uc003ias.3	-	1	1007	c.680C>T	c.(679-681)tCc>tTc	p.S227F	NEUROG2_uc021xqu.1_Missense_Mutation_p.S227F	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	Homo sapiens neurogenin 2 (NEUROG2), mRNA.	227	Ser-rich.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GGAATTGGAGGACACGGAGGA	0.697000														29			4		0	0	0.009096	0	0
COL21A1	81578	broad.mit.edu	37	6	55935586	55935586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:55935586C>T	uc003pcs.3	-	20	2208	c.1976G>A	c.(1975-1977)gGt>gAt	p.G659D	COL21A1_uc010jzz.3_Missense_Mutation_p.G44D|COL21A1_uc011dxg.2_Missense_Mutation_p.G44D|COL21A1_uc011dxh.2_Missense_Mutation_p.G44D|COL21A1_uc003pcr.3_Missense_Mutation_p.V17M	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	659					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCAGGTTCACCTTTGCTTCC	0.328000														11			5		0	0	0.003080	0	0
HNF1B	6928	broad.mit.edu	37	17	36104852	36104852	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:36104852G>A	uc002hok.4	-	0	245	c.24C>T	c.(22-24)ctC>ctT	p.L8L	HNF1B_uc010wdi.2_Silent_p.L8L|HNF1B_uc021tvv.1_Silent_p.L8L|HNF1B_uc021tvw.1_Silent_p.L8L	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	8	Dimerization (By similarity).				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTTCTTGCTGGAGCGACGTGA	0.612000														200			64		0	0	0.014410	0	0
LILRA5	353514	broad.mit.edu	37	19	54823255	54823255	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:54823255C>T	uc002qfe.3	-	3	408	c.288G>A	c.(286-288)aaG>aaA	p.K96K	LILRA5_uc002qff.3_Silent_p.K84K|LILRA5_uc010yev.2_Silent_p.K96K|LILRA5_uc010yew.2_Silent_p.K84K|LILRA5_uc002qfg.1_Silent_p.K96K|LILRA5_uc002qfh.1_Silent_p.K84K	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	96	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCTTGTTCTTGGGCTCCA	0.587000														164			43		0	0	0.011902	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904758	73904758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:73904758G>A	uc011dyh.2	+	14	2824	c.2477G>A	c.(2476-2478)aGc>aAc	p.S826N	KCNQ5_uc011dyi.2_Missense_Mutation_p.S817N|KCNQ5_uc010kat.3_Missense_Mutation_p.S798N|KCNQ5_uc003pgk.3_Missense_Mutation_p.S807N|KCNQ5_uc011dyj.2_Missense_Mutation_p.S697N|KCNQ5_uc011dyk.2_Missense_Mutation_p.S557N	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	807					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ATGAGGAAAAGCTTTGACATG	0.493000														60			16		0	0	0.006122	0	0
ACACA	31	broad.mit.edu	37	17	35545396	35545397	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:35545396_35545397CC>TT	uc002hnm.3	-	38	4676_4677	c.4485_4486GG>AA	c.(4483-4488)atggta>atAAta	p.1495_1496MV>II	ACACA_uc002hnk.3_Missense_Mutation_p.1417_1418MV>II|ACACA_uc002hnl.3_Missense_Mutation_p.1437_1438MV>II|ACACA_uc002hnn.3_Missense_Mutation_p.1495_1496MV>II|ACACA_uc002hno.3_Missense_Mutation_p.1532_1533MV>II|ACACA_uc010cuy.3_Missense_Mutation_p.189_190MV>II	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1495					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TACCGCATTACCATGCTCCGCA	0.465000														78			20		0	0	0.004672	0	0
CEP68	23177	broad.mit.edu	37	2	65299569	65299569	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:65299569T>C	uc002sdl.4	+	2	1553	c.1339T>C	c.(1339-1341)Tcg>Ccg	p.S447P	CEP68_uc002sdj.2_Missense_Mutation_p.S447P|CEP68_uc010yqb.1_Missense_Mutation_p.S447P|CEP68_uc002sdk.4_Missense_Mutation_p.S447P|CEP68_uc010yqc.2_Missense_Mutation_p.S447P|CEP68_uc010yqd.1_Missense_Mutation_p.S447P	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	447					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGGGTGGCCCTCGCCCAGGCC	0.607000														34			9		0	0	0.006214	0	0
TMC5	79838	broad.mit.edu	37	16	19471642	19471642	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:19471642G>A	uc002dgc.4	+	5	1883	c.1134G>A	c.(1132-1134)gaG>gaA	p.E378E	TMC5_uc010vaq.2_Silent_p.E378E|TMC5_uc002dgb.4_Silent_p.E378E|TMC5_uc010var.2_Silent_p.E378E|TMC5_uc002dgd.1_Silent_p.E132E|TMC5_uc002dge.4_Silent_p.E132E|TMC5_uc002dgf.4_Silent_p.E40E|TMC5_uc002dgg.4_Silent_p.E19E	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	378						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCATGGAAGAGAAAAGGAACC	0.398000														28			6		0	0	0.001168	0	0
CCDC135	84229	broad.mit.edu	37	16	57756701	57756701	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:57756701C>T	uc002emi.3	+	9	1445	c.1356C>T	c.(1354-1356)taC>taT	p.Y452Y	CCDC135_uc002emj.3_Silent_p.Y452Y|CCDC135_uc002emk.3_Silent_p.Y387Y	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	452						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGGCCCCGTACCTCAATAGCA	0.592000														83			24		0	0	0.005443	0	0
MYO1A	4640	broad.mit.edu	37	12	57423022	57423022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:57423022C>T	uc001smw.4	-	26	3139	c.2899G>A	c.(2899-2901)Ggg>Agg	p.G967R	MYO1A_uc010sqz.2_Missense_Mutation_p.G805R|MYO1A_uc009zpd.3_Missense_Mutation_p.G967R	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	967					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.G967E(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGGAAGTCCCCCTTGGAGCCC	0.527000														61			12		0	0	0.010729	0	0
ALPK1	80216	broad.mit.edu	37	4	113352711	113352711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:113352711C>T	uc003ian.4	+	10	2235	c.2008C>T	c.(2008-2010)Ccc>Tcc	p.P670S	ALPK1_uc003iap.4_Missense_Mutation_p.P670S|ALPK1_uc011cfx.2_Missense_Mutation_p.P592S|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.P498S	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	670							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GCAACAGATGCCCTTGACACC	0.483000														59			14		0	0	0.020292	0	0
SCLT1	132320	broad.mit.edu	37	4	129880925	129880925	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:129880925C>A	uc003igp.2	-	11	1383	c.877G>T	c.(877-879)Gtg>Ttg	p.V293L	SCLT1_uc003ign.2_5'UTR|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	293						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGGATTGTCACACATAATCTA	0.368000														75			21		2.4624e-09	5.29473e-09	0.008871	1	0
GFPT2	9945	broad.mit.edu	37	5	179729450	179729450	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:179729450G>A	uc003mlw.1	-	17	2075	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	659	SIS 2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CAGCCAGGTGGAAGGACAGCA	0.502000														49			6		0	0	0.001168	0	0
AKR7L	246181	broad.mit.edu	37	1	19596128	19596128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:19596128G>A	uc021ohn.1	-	3	553	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	AKR7L_uc021oho.1_Intron					Homo sapiens aldo-keto reductase family 7-like (AKR7L), transcript variant 1, non-coding RNA.											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTGAGGCAGGGGAAGAGCTCC	0.592000														28			6		0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9090533	9090533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:9090533C>T	uc002mkp.3	-	0	1486	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	428	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E428E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTTCTGTTTCCTTTCCACTC	0.502000														79			14		0	0	0.020292	0	0
WDR61	80349	broad.mit.edu	37	15	78580681	78580681	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:78580681G>A	uc002bdn.3	-	7	682	c.606C>T	c.(604-606)tcC>tcT	p.S202S	WDR61_uc002bdo.3_Silent_p.S202S	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN	Homo sapiens WD repeat domain 61 (WDR61), mRNA.	202							protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CAAGGAGCTGGGAGTCCGGGG	0.488000														53			11		0	0	0.020292	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316833	39316833	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:39316833G>A	uc002hwc.3	-	0	151	c.111C>T	c.(109-111)cgC>cgT	p.R37R		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA.	37	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGCTGGGGCGGCAGCAGG	0.652000														81			16		0	0	0.004007	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342311	60342311	+	RNA	SNP	G	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:60342311G>T	uc010woz.2	-	13		c.1818C>A								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						AAAACGAGGAGGCGAAGCTTG	0.458000														108			10		7.93312e-07	1.69784e-06	0.020292	1	0
PDE1C	5137	broad.mit.edu	37	7	31862791	31862791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:31862791G>A	uc003tcm.2	-	13	1939	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	PDE1C_uc003tcn.1_Missense_Mutation_p.P493L|PDE1C_uc003tco.2_Missense_Mutation_p.P553L|PDE1C_uc003tcr.3_Missense_Mutation_p.P493L|PDE1C_uc003tcs.3_Missense_Mutation_p.P493L	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	493	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A492E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ATTGTTGATCGGGGCACTTCC	0.468000														66			16		0	0	0.003163	0	0
HCN4	10021	broad.mit.edu	37	15	73616490	73616490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:73616490C>T	uc002avp.3	-	6	3077	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	695					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		ATGGGGTACTCCTCCAGCACC	0.687000														67			17		0	0	0.010504	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598689	151598689	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:151598689C>T	uc003ezf.2	+	2	463	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	120						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	CAGCATAGATCGATACTTGAT	0.383000														73			16		0	0	0.004007	0	0
NR1H4	9971	broad.mit.edu	37	12	100904705	100904705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:100904705C>T	uc001tht.2	+	1	287	c.259C>T	c.(259-261)Cct>Tct	p.P87S	NR1H4_uc001thq.2_Missense_Mutation_p.P77S|NR1H4_uc001thp.2_Missense_Mutation_p.P77S|NR1H4_uc001thr.2_Missense_Mutation_p.P77S|NR1H4_uc010svk.2_Missense_Mutation_p.P77S|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.P87S	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	87					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						CCCCCAGCAGCCTGAAGAGTG	0.478000														64			15		0	0	0.020292	0	0
POLG	5428	broad.mit.edu	37	15	89861875	89861875	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:89861875C>A	uc002bns.4	-	20	3661	c.3379G>T	c.(3379-3381)Ggg>Tgg	p.G1127W	POLG_uc002bnr.4_Missense_Mutation_p.G1127W	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	1127					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CAGAAGCGCCCATCTATGGCA	0.562000								DNA polymerases (catalytic subunits)						91			6		3.59834e-05	7.62981e-05	0.001168	1	0
KCNB2	9312	broad.mit.edu	37	8	73848532	73848532	+	Silent	SNP	C	T	T	rs145537672	by1000genomes	TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:73848532C>T	uc003xzb.3	+	2	1530	c.942C>T	c.(940-942)ctC>ctT	p.L314L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	314					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCCTGAAACTCGCCAGGCATT	0.512000														35			87		0	0	0.014410	0	0
MTMR14	64419	broad.mit.edu	37	3	9743533	9743533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:9743533C>T	uc003brz.3	+	18	1980	c.1829C>T	c.(1828-1830)gCt>gTt	p.A610V	MTMR14_uc003bsa.3_Missense_Mutation_p.A558V|MTMR14_uc003bsb.3_Missense_Mutation_p.A498V|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Missense_Mutation_p.A252V|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_Missense_Mutation_p.A181V|CPNE9_uc003bsd.3_5'Flank|CPNE9_uc021wst.1_5'Flank	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	610						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GCCTTCTTGGCTGCGTACAGC	0.612000														58			18		0	0	0.006122	0	0
GAR1	54433	broad.mit.edu	37	4	110737533	110737533	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:110737533C>T	uc003hzt.3	+	2	521	c.214_splice	c.e2+1	p.L72_splice	GAR1_uc003hzu.3_Splice_Site_p.L72_splice|GAR1_uc010imh.1_Splice_Site_p.L72_splice|GAR1_uc010imi.3_Splice_Site_p.L72_splice	NM_018983	NP_127460	Q9NY12	GAR1_HUMAN	Homo sapiens GAR1 ribonucleoprotein homolog (yeast) (GAR1), transcript variant 1, mRNA.	72					rRNA processing|snRNA pseudouridine synthesis	Cajal body|box H/ACA snoRNP complex	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						AACGTGTAGTCTGTATGCAGT	0.532000														98			33		0	0	0.021022	0	0
SLIT1	6585	broad.mit.edu	37	10	98823948	98823948	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:98823948G>A	uc001kmw.2	-	6	858	c.606C>T	c.(604-606)aaC>aaT	p.N202N	SLIT1_uc009xvh.1_Silent_p.N202N	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	202					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGGCATATGGTTGAAGCTGG	0.577000														22			6		0	0	0.003080	0	0
ELK1	2002	broad.mit.edu	37	X	47498705	47498705	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:47498705G>A	uc004dik.4	-	3	565	c.243C>T	c.(241-243)ttC>ttT	p.F81F	ELK1_uc010nhv.3_Silent_p.F81F|ELK1_uc010nhw.3_5'UTR|ELK1_uc004dil.4_Non-coding_Transcript	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.	81					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						ACTTGTAGACGAACTTCTGGC	0.597000														8			10		0	0	0.016723	0	0
SMC5	23137	broad.mit.edu	37	9	72915040	72915040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr9:72915040C>T	uc004ahr.2	+	9	1505	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	463	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTCCGTGACACGTATGATGCT	0.353000														37			21		0	0	0.010504	0	0
JUND	3727	broad.mit.edu	37	19	18391905	18391905	+	Silent	SNP	G	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:18391905G>T	uc002nip.2	-	0	528	c.390C>A	c.(388-390)gcC>gcA	p.A130A	MIR3188_uc021uqm.1_5'Flank	NM_005354	NP_005345	P17535	JUND_HUMAN	Homo sapiens jun D proto-oncogene (JUND), mRNA.	130					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						GCTCCTCGCTGGCCGCCACCT	0.692000														25			7		0.000157383	0.000332173	0.003080	1	0
MYOF	26509	broad.mit.edu	37	10	95111489	95111489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:95111489C>T	uc001kin.3	-	32	3719	c.3596G>A	c.(3595-3597)gGg>gAg	p.G1199E	MYOF_uc001kio.3_Missense_Mutation_p.G1186E|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1199	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGGGGTTCCCCATAGATTTC	0.413000														46			15		0	0	0.003163	0	0
EGLN1	54583	broad.mit.edu	37	1	231509788	231509788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:231509788G>A	uc001huv.2	-	1	4105	c.949C>T	c.(949-951)Cca>Tca	p.P317S	EGLN1_uc001huu.3_Missense_Mutation_p.P19S	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA.	317	Fe2OG dioxygenase.		P -> R (in ECYT3; marked decrease in enzyme activity).		negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	TCTCCATTTGGATTATCAACA	0.333000														44			9		0	0	0.006214	0	0
KAT8	84148	broad.mit.edu	37	16	31131665	31131665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:31131665C>T	uc002eay.3	+	2	310	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	KAT8_uc002eax.3_Missense_Mutation_p.R98W	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 1, mRNA.	98	Chromo.				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	p.R98W(2)									TACAGTTAACCGGCGGCTGGA	0.577000														57			17		0	0	0.007413	0	0
HEMK1	51409	broad.mit.edu	37	3	50614942	50614942	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:50614942C>T	uc003dau.3	+	5	848	c.552C>T	c.(550-552)agC>agT	p.S184S	HEMK1_uc003dav.3_Silent_p.S184S	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	Homo sapiens HemK methyltransferase family member 1 (HEMK1), mRNA.	184					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		TGGGACAGAGCCGAGTCATTG	0.547000														61			13		0	0	0.016723	0	0
CRB1	23418	broad.mit.edu	37	1	197390977	197390977	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:197390977G>A	uc001gtz.3	+	5	2228	c.2019G>A	c.(2017-2019)aaG>aaA	p.K673K	CRB1_uc010poz.2_Silent_p.K604K|CRB1_uc009wza.3_Silent_p.K561K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.K673K|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.K154K|CRB1_uc001gub.1_Silent_p.K322K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	673	EGF-like 12.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTGTGAGAAAGGATTGGTGTG	0.478000														67			17		0	0	0.004990	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008790	142008790	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:142008790C>A	uc003vxf.3	+	1	312	c.263C>A	c.(262-264)cCa>cAa	p.P88Q	TRBV2_uc011kro.1_Intron|TRBV3-1_uc022amz.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CCTAAATCTCCAGACAAAGCT	0.403000														140			24		1.64293e-13	3.54936e-13	0.018920	1	0
FAM86EP	348926	broad.mit.edu	37	4	3948555	3948556	+	RNA	DNP	CC	TT	TT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:3948555_3948556CC>TT	uc011bvu.2	-	4		c.1779_1780GG>AA			FAM86EP_uc003ghn.3_Intron					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		GCCACGTAGACCTCAGGAGCCC	0.639000														31			12		0	0	0.004672	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110467013	110467013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:110467013G>A	uc003yne.3	+	44	6910	c.6806G>A	c.(6805-6807)cGa>cAa	p.R2269Q		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2269	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTCACCTGCGATCTCCTGAG	0.493000										HNSCC(38;0.096)				78			13		0	0	0.013537	0	0
MED25	81857	broad.mit.edu	37	19	50333967	50333967	+	Silent	SNP	T	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:50333967T>A	uc002ppw.2	+	8	987	c.924T>A	c.(922-924)ccT>ccA	p.P308P	MED25_uc010ybe.2_Silent_p.P95P|MED25_uc002ppx.1_Silent_p.P89P	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	308	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCATCACCCCTCTCCAACAAG	0.662000														43			7		0	0	0.004482	0	0
MND1	84057	broad.mit.edu	37	4	154318395	154318395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:154318395G>A	uc003ink.2	+	5	465	c.376G>A	c.(376-378)Gag>Aag	p.E126K	MND1_uc021xtj.1_Non-coding_Transcript|MND1_uc021xtk.1_Intron	NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	Homo sapiens meiotic nuclear divisions 1 homolog (S. cerevisiae) (MND1), transcript variant 1, mRNA.	126					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					GCTAGCAAAAGAGCTTTCTTC	0.358000														14			10		0	0	0.010729	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:39183145A>G	uc002hvu.3	-	0	310	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	Homo sapiens keratin associated protein 1-5 (KRTAP1-5), mRNA.	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(22)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000														45			4		0	0	0.001168	0	0
COL28A1	340267	broad.mit.edu	37	7	7410438	7410438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:7410438G>A	uc003src.1	-	32	3101	c.2984C>T	c.(2983-2985)tCg>tTg	p.S995L	COL28A1_uc011jxe.1_Missense_Mutation_p.S678L	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	995					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.S994S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGAGGTGACGATGAACCAAA	0.368000														70			16		0	0	0.003163	0	0
ALG10B	144245	broad.mit.edu	37	12	38714623	38714623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:38714623C>T	uc001rln.4	+	2	1169	c.1030C>T	c.(1030-1032)Cat>Tat	p.H344Y		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	344					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CACTTATGCTCATAAATACTT	0.313000														130			29		0	0	0.012213	0	0
MUC16	94025	broad.mit.edu	37	19	9074606	9074606	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:9074606G>A	uc002mkp.3	-	2	13044	c.12840C>T	c.(12838-12840)atC>atT	p.I4280I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4282	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.H4279N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCCCCCATGATGTGGGAGG	0.498000														53			17		0	0	0.006122	0	0
HYAL4	23553	broad.mit.edu	37	7	123508989	123508989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr7:123508989C>T	uc003vlc.3	+	2	1300	c.662C>T	c.(661-663)cCt>cTt	p.P221L	HYAL4_uc011knz.2_Missense_Mutation_p.P221L	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	221					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TATTTATATCCTGATTGCCAC	0.428000														80			18		0	0	0.007413	0	0
CROCC	9696	broad.mit.edu	37	1	17292570	17292570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr1:17292570C>T	uc001azt.2	+	28	4721	c.4652C>T	c.(4651-4653)tCg>tTg	p.S1551L	CROCC_uc001azu.2_Missense_Mutation_p.S854L|CROCC_uc001azv.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1551					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCGCAACCTCGAGGGCCAGG	0.622000														42			6		0	0	0.001984	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169804	90169804	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:90169804C>T	uc003hsm.1	-	1	1977	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G	GPRIN3_uc021xqb.1_Silent_p.G486G	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	486										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)		TTTCAAATTTCCCCAATCCAT	0.448000														100			20		0	0	0.012319	0	0
ERVFRD-1	405754	broad.mit.edu	37	6	11104843	11104843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:11104843C>T	uc003mzt.3	-	1	1183	c.701G>A	c.(700-702)cGa>cAa	p.R234Q	C6orf228_uc011dio.2_Intron|ERVFRD-1_uc021ylp.1_Missense_Mutation_p.R234Q	NM_207582	NP_997465	P60508	EFRD1_HUMAN	Homo sapiens endogenous retrovirus group FRD, member 1 (ERVFRD-1), mRNA.	234						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						aagagaatttcgagttTGGTC	0.463000														34			12		0	0	0.010729	0	0
INPP5K	51763	broad.mit.edu	37	17	1399170	1399170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:1399170G>A	uc002fsr.3	-	11	1683	c.1294C>T	c.(1294-1296)Ccg>Tcg	p.P432S	INPP5K_uc002fss.3_Missense_Mutation_p.P356S|INPP5K_uc002fsq.3_Missense_Mutation_p.P356S|INPP5K_uc010cjr.3_Missense_Mutation_p.P356S|INPP5K_uc010vql.2_Missense_Mutation_p.P340S|INPP5K_uc010vqm.2_Missense_Mutation_p.P336S	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.	432	Required for ruffle localization.				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						GAGCCAGGCGGGATCTGCAGG	0.627000														32			6		0	0	0.001168	0	0
TKTL2	84076	broad.mit.edu	37	4	164394874	164394874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:164394874C>T	uc003iqp.4	-	0	174	c.13G>A	c.(13-15)Gac>Aac	p.D5N		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	5						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCTTGGCGTCGTTGGCCATC	0.647000														31			7		0	0	0.001984	0	0
GPR173	54328	broad.mit.edu	37	X	53106032	53106032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chrX:53106032C>T	uc022bxc.1	+	0	229	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	GPR173_uc004dru.3_Missense_Mutation_p.P77S	NM_018969	NP_061842	Q9NS66	GP173_HUMAN	Homo sapiens G protein-coupled receptor 173 (GPR173), mRNA.	77						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CGTCTGCTTCCCCTTTGTGCT	0.587000														32			26		0	0	0.006320	0	0
ANK3	288	broad.mit.edu	37	10	61831846	61831846	+	Silent	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr10:61831846C>T	uc001jky.3	-	36	9131	c.8793G>A	c.(8791-8793)agG>agA	p.R2931R	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2931					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAACATATTCCCTATATAAGA	0.448000														36			12		0	0	0.010729	0	0
POLR1A	25885	broad.mit.edu	37	2	86308727	86308727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:86308727G>A	uc002sqs.3	-	7	1299	c.920C>T	c.(919-921)tCa>tTa	p.S307L		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	307					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTATTACCTTGAGGGCGGCAC	0.423000														30			9		0	0	0.004482	0	0
SCN11A	11280	broad.mit.edu	37	3	38924754	38924754	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:38924754G>A	uc021wvy.1	-	17	3388	c.3189C>T	c.(3187-3189)atC>atT	p.I1063I	SCN11A_uc010hhn.1_Silent_p.I141I	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1063					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GAATCACAAAGATAATAAAGC	0.498000														43			12		0	0	0.016723	0	0
PXDNL	137902	broad.mit.edu	37	8	52469450	52469450	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:52469450G>C	uc003xqu.4	-	3	431	c.330C>G	c.(328-330)atC>atG	p.I110M		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	110					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTAGTGCATGGATTTCATTCT	0.274000														84			27		0	0	0.007291	0	0
ITGA5	3678	broad.mit.edu	37	12	54796799	54796799	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:54796799G>A	uc001sga.3	-	18	2018	c.1950C>T	c.(1948-1950)atC>atT	p.I650I		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	650					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CAGGCACACAGATGTTGTCTT	0.552000														63			21		0	0	0.016522	0	0
HIF3A	64344	broad.mit.edu	37	19	46838216	46838216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr19:46838216C>T	uc002peh.3	+	13	1916	c.1885C>T	c.(1885-1887)Cca>Tca	p.P629S	HIF3A_uc021uwf.1_Missense_Mutation_p.P573S|HIF3A_uc002pej.2_Missense_Mutation_p.P416S|HIF3A_uc010xxy.2_Missense_Mutation_p.P560S|HIF3A_uc002pel.3_Missense_Mutation_p.P627S|HIF3A_uc010xxz.2_Missense_Mutation_p.P578S	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCCAGCACCCCACTCCTGAA	0.592000														38			17		0	0	0.006122	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276908	71276908	+	Missense_Mutation	SNP	G	A	A	rs36179995		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr11:71276908G>A	uc001oqt.1	+	0	300	c.275G>A	c.(274-276)gGg>gAg	p.G92E		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	92	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCTCCAAGGGGGGCTGTGGC	0.677000														100			21		0	0	0.013726	0	0
PI4K2B	55300	broad.mit.edu	37	4	25260689	25260689	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:25260689T>G	uc003grk.2	+	4	920	c.787T>G	c.(787-789)Tac>Gac	p.Y263D	PI4K2B_uc011bxs.2_Missense_Mutation_p.Y167D	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.	263	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TGTTGAAGGTTACAAGGAGGC	0.299000														65			7		0	0	0.004482	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576154	20576154	+	Missense_Mutation	SNP	C	T	T	rs144570025		TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr16:20576154C>T	uc002dhj.4	-	2	224	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ACSM2B_uc002dhk.4_Missense_Mutation_p.R5Q|ACSM2B_uc010bwf.1_Missense_Mutation_p.R5Q	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	5					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.R5Q(2)|p.R5*(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGAACTTTTCGCAGCCAATG	0.498000														43			8		0	0	0.008291	0	0
AICDA	57379	broad.mit.edu	37	12	8757480	8757480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr12:8757480C>T	uc001qur.2	-	3	545	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	AICDA_uc001qup.1_Missense_Mutation_p.E141K|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	156					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AAAGTTCTTTCGTGGTTTTCT	0.423000														137			26		0	0	0.021523	0	0
CCDC141	285025	broad.mit.edu	37	2	179720181	179720182	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:179720181_179720182CC>TT	uc002une.2	-	18	3070_3071	c.2952_2953GG>AA	c.(2950-2955)ttggaa>ttAAaa	p.E985K	CCDC141_uc002unf.1_Missense_Mutation_p.E464K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	410							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCATGACTTCCAAAAGGACAT	0.342000														81			10		0	0	0.004672	0	0
PRLR	5618	broad.mit.edu	37	5	35086320	35086320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:35086320G>A	uc003jjm.3	-	3	752	c.193C>T	c.(193-195)Cac>Tac	p.H65Y	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Missense_Mutation_p.H65Y|PRLR_uc003jjh.2_Missense_Mutation_p.H65Y|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Missense_Mutation_p.H65Y|PRLR_uc003jjl.4_Intron|PRLR_uc021xxl.1_Missense_Mutation_p.H65Y|PRLR_uc010iuw.1_5'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	65	Fibronectin type-III 1.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCTTCCCTGTGGTAAGTCAGT	0.473000														96			15		0	0	0.004990	0	0
MAPK14	1432	broad.mit.edu	37	6	36070420	36070421	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr6:36070420_36070421CC>AT	uc003olq.3	+	9	1316_1317	c.835_836CC>AT	c.(835-837)ccc>ATc	p.P279I	MAPK14_uc003olo.3_Missense_Mutation_p.P279I|MAPK14_uc003olp.3_Missense_Mutation_p.P279I|MAPK14_uc003olr.3_Intron|MAPK14_uc011dti.2_Missense_Mutation_p.P202I	NM_139012	NP_620581	Q16539	MK14_HUMAN	Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA.	279	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|MAP kinase activity|MAP kinase kinase activity|protein binding	p.N278I(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGGTGCCAATCCCCTGGGTAAG	0.366000														100			16		0	0	0.004672	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120944	38120944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr22:38120944C>T	uc003atr.3	+	6	2652	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	TRIOBP_uc003atu.3_Missense_Mutation_p.S622F|TRIOBP_uc003atq.1_Missense_Mutation_p.S794F|TRIOBP_uc003ats.1_Missense_Mutation_p.S622F	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	794					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)					CCCAGAACATCCTGTGCCCAG	0.532000														46			7		0	0	0.001984	0	0
abParts	0	broad.mit.edu	37	15	22473007	22473007	+	RNA	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr15:22473007G>A	uc001yuj.2	-	6		c.321C>T								Parts of antibodies, mostly variable regions.																		CTACTGATATGGTGACTCGAC	0.582000														278			29		0	0	0.009535	0	0
MEF2C	4208	broad.mit.edu	37	5	88018700	88018700	+	Silent	SNP	G	A	A			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr5:88018700G>A	uc003kjl.3	-	11	1602	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	MEF2C_uc021ybg.1_Intron|MEF2C_uc021ybh.1_Silent_p.S325S|MEF2C_uc003kji.2_Silent_p.S373S|MEF2C_uc003kjj.3_Silent_p.S381S|MEF2C_uc003kjk.3_Silent_p.S381S|MEF2C_uc003kjm.3_Silent_p.S371S	NM_001193347	NP_001180276	Q06413	MEF2C_HUMAN	Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 3, mRNA.	381	Transcription repressor.				B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TAGAAGGCAGGGAGAGATTTG	0.517000										HNSCC(66;0.2)				19			5		0	0	0.014758	0	0
CEP68	23177	broad.mit.edu	37	2	65299562	65299563	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr2:65299562_65299563insT	uc002sdl.4	+	2	1546_1547	c.1332_1333insT	c.(1330-1335)gggtggfs	p.G444fs	CEP68_uc002sdj.2_Frame_Shift_Ins_p.G444fs|CEP68_uc010yqb.1_Frame_Shift_Ins_p.G444fs|CEP68_uc002sdk.4_Frame_Shift_Ins_p.G444fs|CEP68_uc010yqc.2_Frame_Shift_Ins_p.G444fs|CEP68_uc010yqd.1_Frame_Shift_Ins_p.G444fs	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	444					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGGACAGAGGGTGGCCCTCGCC	0.624													---	36	---	---	10	---					
MRAS	22808	broad.mit.edu	37	3	138121035	138121037	+	In_Frame_Del	DEL	AGA	-	-			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr3:138121035_138121037delAGA	uc003esh.4	+	5	1247_1249	c.551_553delAGA	c.(550-555)cagaag>cag	p.K189del	MRAS_uc011bmi.2_In_Frame_Del_p.K113del|MRAS_uc003esi.4_In_Frame_Del_p.K189del|MRAS_uc021xep.1_In_Frame_Del_p.K113del|MRAS_uc011bmj.2_In_Frame_Del_p.K113del|MRAS_uc021xeq.1_In_Frame_Del_p.K189del	NM_012219	NP_036351	O14807	RASM_HUMAN	Homo sapiens muscle RAS oncogene homolog (MRAS), transcript variant 1, mRNA.	189	Poly-Lys.				Ras protein signal transduction|actin cytoskeleton organization|muscle organ development	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GAAAAAAGCCAGAAGAAGAAGAA	0.522													---	568	---	---	7	---					
CPEB2	132864	broad.mit.edu	37	4	15063885	15063886	+	Splice_Site	INS	-	T	T			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr4:15063885_15063886insT	uc003gnk.2	+	11	2877	c.2877_splice	c.e11+1	p.R959_splice	CPEB2_uc003gnl.2_Splice_Site_p.R932_splice|CPEB2_uc003gnm.2_Splice_Site_p.R929_splice|CPEB2_uc003gni.2_Splice_Site_p.R951_splice|CPEB2_uc003gnn.2_Splice_Site_p.R924_splice|CPEB2_uc003gnj.2_Splice_Site_p.R921_splice	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	514					regulation of translation	cytoplasm	RNA binding|nucleotide binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TGATAAACGTGTAAGTTGCATA	0.381													---	136	---	---	26	---					
PSCA	8000	broad.mit.edu	37	8	143763499	143763500	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr8:143763499_143763500insG	uc022bcd.1	+	2	530_531	c.107_108insG	c.(106-108)ttgfs	p.L36fs	AX747544_uc022bce.1_5'Flank|PSCA_uc003ywu.3_Frame_Shift_Ins_p.L98fs			D3DWI6	D3DWI6_HUMAN	Homo sapiens prostate stem cell antigen (PSCA), transcript variant 2, non-coding RNA.	0										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGCCATCCTTGCGCTGCTCCC	0.678													---	101	---	---	10	---					
TRIM65	201292	broad.mit.edu	37	17	73888441	73888443	+	In_Frame_Del	DEL	CTC	-	-			TCGA-EE-A2MH-06A-11D-A197-08	TCGA-EE-A2MH-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ad6462f-4e94-4869-80e6-7e6a48129275	e13ad236-0918-4134-8205-78496064fcd6	g.chr17:73888441_73888443delCTC	uc002jpx.3	-	2	685_687	c.649_651delGAG	c.(649-651)gagdel	p.E217del		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA.	217						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGCCGCTGCTCCTCGTCTCGA	0.640													---	39	---	---	12	---