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
NXF5	55998	broad.mit.edu	37	X	101096477	101096477	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:101096477C>T	uc011mrk.1	-	5	654	c.294G>A	c.(292-294)ttG>ttA	p.L98L	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	98					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GGCCTGGCTTCAACTTATTCT	0.478000														65			23		0	0	0.00332997	0	0
OR4K17	390436	broad.mit.edu	37	14	20586306	20586306	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:20586306C>T	uc001vwo.1	+	0	741	c.741C>T	c.(739-741)atC>atT	p.I247I		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I247I(2)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTTGCTTATCTCCTACAGTC	0.418000														102			10		0	0	0.000442599	0	0
SLC5A8	160728	broad.mit.edu	37	12	101560291	101560291	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:101560291G>A	uc001thz.4	-	11	1897	c.1507C>T	c.(1507-1509)Caa>Taa	p.Q503*		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	503					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGTATATTTGAAAAACACTA	0.328000														51			9		0	0	0.000673444	0	0
KCNB2	9312	broad.mit.edu	37	8	73848523	73848523	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:73848523C>T	uc003xzb.3	+	2	1521	c.933C>T	c.(931-933)atC>atT	p.I311I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	311					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.R310T(1)		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)			TCCTCAGGATCCTGAAACTCG	0.517000														39			7		0	0	0.00198382	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474918	78474918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:78474918C>T	uc002bdh.3	-	6	990	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	ACSBG1_uc010umx.2_Missense_Mutation_p.E20K|ACSBG1_uc010umw.2_Missense_Mutation_p.E258K|ACSBG1_uc010umy.2_Missense_Mutation_p.E155K	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	262					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCCAGGGCTTCCTCAGGCACT	0.602000														21			6		0	0	0.00116845	0	0
UGT2A1	10941	broad.mit.edu	37	4	70460968	70460968	+	Splice_Site	SNP	C	T	T	rs139337193		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:70460968C>T	uc011caq.2	-	5	1611	c.1495_splice	c.e5-1	p.V499_splice	UGT2A1_uc010ihu.3_Splice_Site_p.V333_splice|UGT2A1_uc003hem.4_Splice_Site_p.V333_splice|UGT2A1_uc010ihs.3_Splice_Site_p.V342_splice|UGT2A1_uc021xox.1_Splice_Site_p.V298_splice|UGT2A1_uc010iht.3_Splice_Site_p.V289_splice	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	333					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCCATAAAACCTGTGGAAAAT	0.373000														52			6		0	0	0.00307968	0	0
OR4M2	390538	broad.mit.edu	37	15	22369027	22369027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:22369027G>A	uc010tzu.2	+	0	550	c.452G>A	c.(451-453)gGg>gAg	p.G151E	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCCTGGAGGGGGGGCTTCATT	0.498000														118			31		0	0	0.00209593	0	0
OR2B6	26212	broad.mit.edu	37	6	27925589	27925589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:27925589G>A	uc011dkx.2	+	0	571	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCTTGTGTTGAGACAACAGC	0.458000														117			34		0	0	0.0024448	0	0
ADH1A	124	broad.mit.edu	37	4	100201307	100201307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:100201307G>A	uc003hur.2	-	6	1072	c.958C>T	c.(958-960)Ctt>Ttt	p.L320F	LOC100507053_uc003hum.2_Intron	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	320					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ATACCACCAAGAATAGCTCCC	0.453000														151			45		0	0	0.00361006	0	0
XPC	7508	broad.mit.edu	37	3	14212034	14212034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:14212034G>A	uc011ave.2	-	2	420	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	XPC_uc011avf.2_5'UTR|XPC_uc011avg.2_Missense_Mutation_p.L106F	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	106	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCTTCTTGAGGTCACTTGGA	0.428000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					149			32		0	0	0.00327116	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953687	161953687	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:161953687G>A	uc010pkq.2	-	7	2458	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	OLFML2B_uc001gbt.3_Silent_p.F160F|OLFML2B_uc001gbu.3_Silent_p.F677F	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	677	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CACAGATGACGAAGCAGTTGC	0.567000														65			12		0	0	0.00136819	0	0
ARPP21	10777	broad.mit.edu	37	3	35731618	35731618	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:35731618C>T	uc011axy.2	+	6	743	c.531C>T	c.(529-531)ttC>ttT	p.F177F	ARPP21_uc003cga.3_Silent_p.F177F|ARPP21_uc003cgb.3_Silent_p.F177F|ARPP21_uc003cgf.3_Silent_p.F13F	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	177	R3H.					cytoplasm	nucleic acid binding	p.D176Y(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTATTGATTTCATTGCTGACA	0.318000														39			5		0	0	0.00116845	0	0
FSIP2	401024	broad.mit.edu	37	2	186673115	186673115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:186673115G>A	uc002upl.3	+	16	19349	c.19349G>A	c.(19348-19350)aGg>aAg	p.R6450K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAACTAATAAGGTTGCCAAGT	0.348000														30			9		0	0	0.000673444	0	0
CDH17	1015	broad.mit.edu	37	8	95178106	95178106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:95178106G>A	uc003ygh.2	-	9	1290	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	CDH17_uc011lgo.1_Missense_Mutation_p.P175S|CDH17_uc011lgp.1_Missense_Mutation_p.P389S	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	389	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCATCCATGGGAAGTTTGGGA	0.423000														63			15		0	0	0.00244969	0	0
ATP10B	23120	broad.mit.edu	37	5	160071175	160071175	+	Missense_Mutation	SNP	C	T	T	rs3749670		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:160071175C>T	uc003lym.1	-	8	1685	c.838G>A	c.(838-840)Gag>Aag	p.E280K	ATP10B_uc003lyp.2_Missense_Mutation_p.E280K|ATP10B_uc011deg.1_Missense_Mutation_p.E324K|ATP10B_uc003lyo.2_Missense_Mutation_p.E252K	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	280					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGCCATCTCGGTGTTTCTG	0.483000														59			12		0	0	0.00185496	0	0
ZNF232	7775	broad.mit.edu	37	17	5012250	5012250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:5012250G>A	uc002gat.3	-	3	1251	c.596C>T	c.(595-597)cCt>cTt	p.P199L	ZNF232_uc002gar.1_Missense_Mutation_p.P199L|ZNF232_uc010vsv.1_3'UTR	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	Homo sapiens zinc finger protein 232 (ZNF232), mRNA.	172					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GGTCTCCTTAGGCTGGAGCTG	0.572000														112			21		0	0	0.00229938	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173338	57173338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:57173338G>A	uc001cyk.4	+	8	1682	c.1611G>A	c.(1609-1611)atG>atA	p.M537I		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	537					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GTCACACCATGGATTTTTTTG	0.433000														110			23		0	0	0.00332997	0	0
OXGR1	27199	broad.mit.edu	37	13	97639130	97639130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr13:97639130G>A	uc001vmx.1	-	3	1128	c.884C>T	c.(883-885)aCc>aTc	p.T295I	OXGR1_uc010afr.1_Missense_Mutation_p.T295I|OXGR1_uc021rlr.1_Missense_Mutation_p.T295I	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	295						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GTTACCAAAGGTGTTCAGAGC	0.458000														61			14		0	0	0.00185496	0	0
ZPLD1	131368	broad.mit.edu	37	3	102187915	102187915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:102187915C>T	uc003dvt.1	+	7	1017	c.917C>T	c.(916-918)tCc>tTc	p.S306F	ZPLD1_uc003dvs.1_Missense_Mutation_p.S290F|ZPLD1_uc011bhg.1_Missense_Mutation_p.S290F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	290	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAGAAAATGTCCACTGTCTTC	0.463000														59			14		0	0	0.00185496	0	0
ATXN7	6314	broad.mit.edu	37	3	63981396	63981396	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:63981396G>T	uc003dlv.3	+	11	2451	c.1898G>T	c.(1897-1899)gGg>gTg	p.G633V	ATXN7_uc003dlw.4_Missense_Mutation_p.G633V|ATXN7_uc021wzy.1_Missense_Mutation_p.G633V|ATXN7_uc011bfn.2_Missense_Mutation_p.G488V	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	633					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCTGCTTCAGGGGCGATGGAT	0.547000														109			6		0.00198382	0.00638541	0.00198382	1	0
TRANK1	9881	broad.mit.edu	37	3	36872672	36872672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:36872672G>A	uc003cgj.3	-	20	8518	c.8270C>T	c.(8269-8271)tCc>tTc	p.S2757F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2757					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCAGCCCTGGAAAGGACTGC	0.557000														53			13		0	0	0.00400662	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136969	40136969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:40136969G>A	uc021qgf.1	-	0	874	c.874C>T	c.(874-876)Cat>Tat	p.H292Y	LRRC4C_uc001mxc.1_Missense_Mutation_p.H288Y|LRRC4C_uc001mxd.1_Missense_Mutation_p.H288Y|LRRC4C_uc001mxa.1_Missense_Mutation_p.H292Y|LRRC4C_uc001mxb.1_Missense_Mutation_p.H288Y	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	292					regulation of axonogenesis	integral to membrane	protein binding	p.H291H(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGCTCTAGATGATGCAAGGGA	0.468000														80			16		0	0	0.000958276	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229893	8229893	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:8229893C>T	uc003gkv.4	+	11	2573	c.2472C>T	c.(2470-2472)atC>atT	p.I824I	SH3TC1_uc003gkw.4_Silent_p.I748I|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	824							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCCGTGCCATCGTGGACCACC	0.662000														21			7		0	0	0.00198382	0	0
IFNA8	3445	broad.mit.edu	37	9	21409573	21409573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:21409573C>T	uc003zpc.1	+	0	428	c.398C>T	c.(397-399)cCc>cTc	p.P133L		NM_002170	NP_002161	P32881	IFNA8_HUMAN	Homo sapiens interferon, alpha 8 (IFNA8), mRNA.	133					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		ATAGAGTCTCCCCTGATGTAC	0.478000														83			30		0	0	0.00209593	0	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22618322	22618322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:22618322C>T	uc009xkg.3	+	13	1296	c.1261C>T	c.(1261-1263)Cca>Tca	p.P421S	COMMD3-BMI1_uc001irh.3_Missense_Mutation_p.P278S	NM_001204062	NP_001190991	P35226	BMI1_HUMAN	Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.	278					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	PcG protein complex|cytoplasm|nucleolus|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										CCCCAGTACTCCAGTGCAGTC	0.507000														103			22		0	0	0.00332997	0	0
MAP2K4	6416	broad.mit.edu	37	17	11998934	11998934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:11998934C>T	uc002gnj.3	+	3	505	c.436C>T	c.(436-438)Ctt>Ttt	p.L146F	MAP2K4_uc002gnk.3_Missense_Mutation_p.L157F|MAP2K4_uc010vvi.2_Missense_Mutation_p.L28F|MAP2K4_uc010vvj.2_Missense_Mutation_p.L18F	NM_003010	NP_003001	P45985	MP2K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA.	146	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|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	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AAAACAACTTCTTATGGATTT	0.353000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""									60			16		0	0	0.000566183	0	0
BRWD1	54014	broad.mit.edu	37	21	40590094	40590094	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:40590094C>G	uc002yxk.2	-	30	3938	c.3643G>C	c.(3643-3645)Gtt>Ctt	p.V1215L	BRWD1_uc010goc.1_Intron|BRWD1_uc021wjf.1_Missense_Mutation_p.V1215L|BRWD1_uc010god.1_Missense_Mutation_p.V181L	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1215	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AATCGATTAACAAGTCTCATT	0.368000														49			6		0	0	0.00198382	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757303	56757303	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:56757303G>A	uc010rjp.2	+	0	915	c.915G>A	c.(913-915)ggG>ggA	p.G305G		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAGTGATAGGGAAAAAGTTAT	0.303000														17			9		0	0	0.00448238	0	0
IRF3	3661	broad.mit.edu	37	19	50167994	50167994	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:50167994G>A	uc002poy.2	-	0	1121	c.102C>T	c.(100-102)ttC>ttT	p.F34F	IRF3_uc021uxp.1_Intron|IRF3_uc021uxq.1_Intron|IRF3_uc002pot.2_Silent_p.F34F|IRF3_uc021uxr.1_Intron|IRF3_uc021uxs.1_Intron|IRF3_uc002pow.3_Silent_p.F34F|IRF3_uc021uxo.1_Intron|IRF3_uc002pou.3_Silent_p.F34F|IRF3_uc010end.2_Silent_p.F34F|IRF3_uc002poz.1_Silent_p.F34F|IRF3_uc010ene.1_Silent_p.F34F|BCL2L12_uc002ppa.3_5'Flank|BCL2L12_uc002ppb.3_5'Flank	NM_001197126	NP_001184055	Q14653	IRF3_HUMAN	Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA.	34					MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		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;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AAGGGATGCGGAAGCGCGTGC	0.652000														89			19		0	0	0.00229938	0	0
SYNE2	23224	broad.mit.edu	37	14	64421518	64421518	+	Silent	SNP	A	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:64421518A>G	uc001xgl.3	+	7	902	c.672A>G	c.(670-672)cgA>cgG	p.R224R	SYNE2_uc001xgk.3_Silent_p.R224R|SYNE2_uc001xgm.3_Silent_p.R224R|SYNE2_uc021ruh.1_Silent_p.R224R	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	224	Actin-binding.|CH 2.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	p.R224G(1)|p.L223F(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGCCTTGCGACCAGACCTAA	0.393000														56			7		0	0	0.00307968	0	0
COL11A1	1301	broad.mit.edu	37	1	103471428	103471428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:103471428C>T	uc001dum.3	-	17	2165	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.G604E|COL11A1_uc001dun.3_Missense_Mutation_p.G565E|COL11A1_uc009weh.3_Missense_Mutation_p.G488E	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	604	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCCGGAAGTCCATCAAACCC	0.363000														93			18		0	0	0.000958276	0	0
CCDC80	151887	broad.mit.edu	37	3	112324569	112324569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:112324569C>T	uc003dzf.3	-	7	2766	c.2548G>A	c.(2548-2550)Gtg>Atg	p.V850M	CCDC80_uc011bhv.2_Missense_Mutation_p.V823M|CCDC80_uc003dzg.3_Missense_Mutation_p.V850M	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	850										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATGTCTTTCACCAAATGGGCT	0.423000														43			8		0	0	0.00307968	0	0
DSCR10	259234	broad.mit.edu	37	21	39580244	39580244	+	RNA	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:39580244G>A	uc010gnt.2	+	2		c.366G>A								Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA.																		AGCTCACATGGACCCAAGTTG	0.448000														41			9		0	0	0.00448238	0	0
LRRC49	54839	broad.mit.edu	37	15	71197007	71197007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:71197007C>T	uc010ukf.2	+	4	734	c.428C>T	c.(427-429)tCg>tTg	p.S143L	LRRC49_uc002asu.3_Missense_Mutation_p.S128L|LRRC49_uc002asx.3_Missense_Mutation_p.S94L|LRRC49_uc002asw.3_Missense_Mutation_p.S138L|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_Missense_Mutation_p.S110L	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	138						cytoplasm|microtubule		p.S138L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGTTAATATCGTTGGATTTA	0.358000														112			18		0	0	0.000958276	0	0
RRP9	9136	broad.mit.edu	37	3	51971266	51971266	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:51971266G>A	uc003dbw.1	-	5	498	c.459C>T	c.(457-459)gtC>gtT	p.V153V		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	153					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CGGGGGTGACGACCAAACATG	0.592000														42			13		0	0	0.00244969	0	0
FAM83B	222584	broad.mit.edu	37	6	54735446	54735446	+	Silent	SNP	G	A	A	rs150957238		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:54735446G>A	uc003pck.3	+	1	518	c.402G>A	c.(400-402)acG>acA	p.T134T		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	134										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATCTACTTACGATAAAAGAAA	0.373000														53			15		0	0	0.000566183	0	0
BMS1	9790	broad.mit.edu	37	10	43316001	43316001	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:43316001C>T	uc001jaj.3	+	16	3173	c.2815C>T	c.(2815-2817)Cga>Tga	p.R939*		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	939					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.R939*(2)|p.R939Q(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTCAAGTCCCGAGATCCAAT	0.453000														28			14		0	0	0.00244969	0	0
KALRN	8997	broad.mit.edu	37	3	124390609	124390609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:124390609C>T	uc003ehg.3	+	47	6930	c.6803C>T	c.(6802-6804)tCt>tTt	p.S2268F	KALRN_uc003ehi.3_Missense_Mutation_p.S609F|KALRN_uc003ehk.3_Missense_Mutation_p.S571F|KALRN_uc011bjz.2_Missense_Mutation_p.S360F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2267					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCCTACTCCTCTGTTCCTGCG	0.567000														87			18		0	0	0.00152264	0	0
ATP13A4	84239	broad.mit.edu	37	3	193158418	193158418	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:193158418G>A	uc003ftd.3	-	20	2556	c.2448C>T	c.(2446-2448)atC>atT	p.I816I	ATP13A4_uc003fte.1_Silent_p.I816I|ATP13A4_uc011bsr.1_Silent_p.I287I|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	816					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L815V(1)		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)		TGGTCCCATTGATCAATATCT	0.408000														74			17		0	0	0.00121646	0	0
NRXN3	9369	broad.mit.edu	37	14	79433606	79433606	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:79433606A>C	uc001xun.3	+	9	2205	c.1714A>C	c.(1714-1716)Agt>Cgt	p.S572R	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.S697R	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	164					angiogenesis|cell adhesion	integral to membrane		p.S572N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CAAAGGCAACAGTGACCGCCC	0.433000														19			9		0	0	0.000978159	0	0
OR8H2	390151	broad.mit.edu	37	11	55872708	55872708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:55872708C>T	uc010riy.2	+	0	190	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L64F(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTATTTTTTCCTTACTCACCT	0.423000										HNSCC(53;0.14)				207			44		0	0	0.0025221	0	0
FLG	2312	broad.mit.edu	37	1	152284394	152284394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:152284394C>T	uc001ezu.1	-	2	3004	c.2968G>A	c.(2968-2970)Gaa>Aaa	p.E990K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	990	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGTCTTCGTGATGGGAC	0.572000									Ichthyosis					231			42		0	0	0.00361006	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972599	92972599	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:92972599G>C	uc022axs.1	-	11	2050	c.1863C>G	c.(1861-1863)gaC>gaG	p.D621E	RUNX1T1_uc003yfc.2_Missense_Mutation_p.D535E|RUNX1T1_uc010mam.3_Missense_Mutation_p.D535E|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D525E|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D562E|RUNX1T1_uc022axo.1_Missense_Mutation_p.D562E|RUNX1T1_uc010mao.3_Missense_Mutation_p.D535E|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D573E|RUNX1T1_uc022axp.1_Missense_Mutation_p.D562E|RUNX1T1_uc022axq.1_Missense_Mutation_p.D562E|RUNX1T1_uc022axr.1_Missense_Mutation_p.D562E|RUNX1T1_uc022axt.1_Missense_Mutation_p.D562E|RUNX1T1_uc022axu.1_Missense_Mutation_p.D542E|RUNX1T1_uc022axv.1_Missense_Mutation_p.D562E|RUNX1T1_uc010man.2_Missense_Mutation_p.D187E|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D525E	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	562					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGCAGGTGTGTCTCCCTGCT	0.617000														22			4		0	0	0.00024832	0	0
GPR50	9248	broad.mit.edu	37	X	150348517	150348517	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:150348517C>T	uc010ntg.2	+	1	600	c.462C>T	c.(460-462)atC>atT	p.I154I	GPR50_uc011myc.2_Silent_p.I154I	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	154					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCACCTGGATCATGACCGTCC	0.517000														57			17		0	0	0.00074312	0	0
LYPLA1	10434	broad.mit.edu	37	8	54965265	54965265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:54965265C>T	uc003xry.3	-	6	606	c.412G>A	c.(412-414)Ggt>Agt	p.G138S	LYPLA1_uc011ldx.2_Intron|LYPLA1_uc003xrz.3_Missense_Mutation_p.G117S	NM_006330	NP_006321	O75608	LYPA1_HUMAN	Homo sapiens lysophospholipase I (LYPLA1), mRNA.	138					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GCAGTGACACCTGCCAGTTTC	0.473000														55			14		0	0	0.00316338	0	0
LMTK3	114783	broad.mit.edu	37	19	49001505	49001505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:49001505C>T	uc002pjk.3	-	11	2908	c.2908G>A	c.(2908-2910)Gag>Aag	p.E970K		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCCGCCTTCTCCTCGATGCCT	0.637000														27			8		0	0	0.00448238	0	0
KRT33A	3883	broad.mit.edu	37	17	39504771	39504771	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:39504771C>T	uc002hwk.1	-	2	589	c.552G>A	c.(550-552)aaG>aaA	p.K184K		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	184	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCAGCTCCTCCTTCAGGGACT	0.597000														65			14		0	0	0.00400662	0	0
TRIM51	84767	broad.mit.edu	37	11	55658717	55658717	+	Missense_Mutation	SNP	G	A	A	rs138042923	by1000genomes	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:55658717G>A	uc010rip.2	+	6	1060	c.968G>A	c.(967-969)gGa>gAa	p.G323E	TRIM51_uc010riq.2_Missense_Mutation_p.G180E	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	323	B30.2/SPRY.					intracellular	zinc ion binding	p.G323A(1)|p.G164A(1)									GATATCACTGGAAAATCTGAA	0.443000														126			33		0	0	0.00375469	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354961	45354961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:45354961C>T	uc002xsl.3	+	1	1383	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	429						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGGTTTGGGCCAGGTAAGTGG	0.607000														28			4		0	0	0.00024832	0	0
ST14	6768	broad.mit.edu	37	11	130060506	130060506	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:130060506C>T	uc001qfw.3	+	6	985	c.792C>T	c.(790-792)gaC>gaT	p.D264D	ST14_uc010sca.1_Silent_p.D74D	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	264	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCAGCTTTGACCTTGCGTCCT	0.701000														13			4		0	0	0.000602214	0	0
DGKE	8526	broad.mit.edu	37	17	54940014	54940014	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:54940014G>A	uc002iur.3	+	11	1746	c.1566G>A	c.(1564-1566)ggG>ggA	p.G522G	DGKE_uc002ius.1_3'UTR	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	522					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AGGTGGATGGGGAGCCTTGGG	0.433000														9			3		0	0	6.4e-05	0	0
TRO	7216	broad.mit.edu	37	X	54956860	54956860	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:54956860A>C	uc004dtq.3	+	11	3810	c.3703A>C	c.(3703-3705)Aca>Cca	p.T1235P	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.T766P|TRO_uc004dtw.3_Missense_Mutation_p.T838P|TRO_uc004dtx.3_Missense_Mutation_p.T618P	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	1235	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGGCCTAAGCACAAGTTCTGG	0.587000														54			16		0	0	0.000566183	0	0
TSPAN11	441631	broad.mit.edu	37	12	31116768	31116768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:31116768G>A	uc010sju.2	+	2	472	c.92G>A	c.(91-93)gGa>gAa	p.G31E	TSPAN11_uc001rjp.3_Missense_Mutation_p.G31E|TSPAN11_uc010sjv.2_Missense_Mutation_p.G21E	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	Homo sapiens tetraspanin 11 (TSPAN11), mRNA.	31						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CAGGTCGGGGGAGCAGCCGTC	0.667000														35			8		0	0	0.00307968	0	0
CGNL1	84952	broad.mit.edu	37	15	57744449	57744449	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:57744449G>A	uc010bfw.3	+	6	2209	c.2016G>A	c.(2014-2016)ctG>ctA	p.L672L	CGNL1_uc002aeg.3_Silent_p.L672L	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	672						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAACGACTGGAAGAAAGTG	0.493000														18			4		0	0	0.000602214	0	0
XKR4	114786	broad.mit.edu	37	8	56436719	56436719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:56436719C>T	uc003xsf.3	+	2	1918	c.1886C>T	c.(1885-1887)cCt>cTt	p.P629L		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	629						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCCCCATCTCCTCCAAGGCTG	0.458000														64			15		0	0	0.00400662	0	0
UTP20	27340	broad.mit.edu	37	12	101699779	101699779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:101699779C>T	uc001tia.1	+	15	2024	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	623					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGGCCACTTTCCCAGGAGGCT	0.448000														92			21		0	0	0.00152264	0	0
ME3	10873	broad.mit.edu	37	11	86382871	86382871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:86382871C>T	uc001pbz.3	-	0	370	c.116G>A	c.(115-117)gGc>gAc	p.G39D	ME3_uc001pca.3_Missense_Mutation_p.G39D|ME3_uc009yvk.3_Missense_Mutation_p.G39D|ME3_uc010rtr.1_Non-coding_Transcript	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	39					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GCGCGCCGGGCCAGGCTTGGA	0.726000														51			7		0	0	0.00307968	0	0
KNDC1	85442	broad.mit.edu	37	10	135026241	135026241	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:135026241C>T	uc001llz.1	+	23	4259	c.4258C>T	c.(4258-4260)Cga>Tga	p.R1420*		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1420					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGGCTGCCCCGAGGCAACGG	0.701000														29			7		0	0	0.00198382	0	0
OR5P2	120065	broad.mit.edu	37	11	7818236	7818236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:7818236C>T	uc001mfp.1	-	0	254	c.254G>A	c.(253-255)aGa>aAa	p.R85K		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACTGTATTTCTCTCCACCAG	0.488000														99			29		0	0	0.001512	0	0
FPR1	2357	broad.mit.edu	37	19	52249600	52249600	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:52249600G>A	uc021uyn.1	-	2	794	c.648C>T	c.(646-648)atC>atT	p.I216I	FPR1_uc002pxq.3_Silent_p.I216I|FPR1_uc021uyo.1_Silent_p.I216I	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	216					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGACAGCAACGATGGACATGG	0.527000														66			21		0	0	0.00188189	0	0
PRB2	653247	broad.mit.edu	37	12	11546017	11546017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:11546017C>T	uc010shk.1	-	2	1030	c.995G>A	c.(994-996)gGa>gAa	p.G332E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTTGTTGCCTCCTTGTGGGGG	0.612000														148			33		0	0	0.00361006	0	0
SCN9A	6335	broad.mit.edu	37	2	167056155	167056155	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:167056155T>C	uc010fpl.3	-	26	5302	c.4961A>G	c.(4960-4962)aAc>aGc	p.N1654S	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1665						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATAGGCAAAGTTGGACATTCC	0.423000														111			33		0	0	0.00283554	0	0
OR8J1	219477	broad.mit.edu	37	11	56127804	56127804	+	Missense_Mutation	SNP	T	C	C	rs149173319		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:56127804T>C	uc010rjh.2	+	0	114	c.82T>C	c.(82-84)Ttc>Ctc	p.F28L		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F28F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GATTCCCCTCTTCCTGGTCTT	0.493000														119			15		0	0	0.00400662	0	0
GP6	51206	broad.mit.edu	37	19	55527069	55527069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:55527069C>T	uc002qik.3	-	6	785	c.757G>A	c.(757-759)Gag>Aag	p.E253K	GP6_uc002qil.3_Missense_Mutation_p.E253K|GP6_uc010esq.3_Missense_Mutation_p.E235K	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 2, mRNA.	253					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		GAGTCTGACTCCTTTGGACTG	0.527000														57			16		0	0	0.000566183	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956064	18956064	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:18956064T>G	uc001mpg.3	-	0	486	c.268A>C	c.(268-270)Atc>Ctc	p.I90L		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	90					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTATGGGGGATACTGATGAAG	0.522000														257			31		0	0	0.00283554	0	0
MUC17	140453	broad.mit.edu	37	7	100679607	100679607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:100679607C>T	uc003uxp.1	+	2	4963	c.4910C>T	c.(4909-4911)cCt>cTt	p.P1637L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1637	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAAGTATACCTGTCAGCACC	0.493000														293			50		0	0	0.00361006	0	0
OR5H14	403273	broad.mit.edu	37	3	97868478	97868478	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:97868478C>T	uc003dsg.1	+	0	249	c.249C>T	c.(247-249)atC>atT	p.I83I		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGATGCTGATCAACTTCTTAG	0.393000														181			29		0	0	0.00127121	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70742476	70742476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:70742476C>T	uc001dex.4	-	9	1593	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	ANKRD13C_uc009wbk.3_Missense_Mutation_p.E388K	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	423					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	p.W422*(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATATATTCTTCCCATGTAATA	0.328000														74			18		0	0	0.00188189	0	0
LAMB4	22798	broad.mit.edu	37	7	107696330	107696330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:107696330C>T	uc010ljo.1	-	24	3586	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K	LAMB4_uc003vey.2_Missense_Mutation_p.E1168K|LAMB4_uc010ljp.1_Missense_Mutation_p.E137K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1168	Laminin EGF-like 13.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTAGGGAATTCCTGGCTGTGT	0.562000														82			6		0	0	0.00307968	0	0
SPEF2	79925	broad.mit.edu	37	5	35814606	35814606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:35814606G>A	uc003jjo.3	+	36	5531	c.5420G>A	c.(5419-5421)gGa>gAa	p.G1807E	SPEF2_uc003jjr.3_Missense_Mutation_p.G862E	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1807					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATGTACAAGGAAGTGATGGA	0.299000														61			17		0	0	0.00121646	0	0
HTR1E	3354	broad.mit.edu	37	6	87726062	87726062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:87726062C>T	uc003pli.3	+	1	1713	c.1010C>T	c.(1009-1011)tCt>tTt	p.S337F	HTR1E_uc021zcg.1_Missense_Mutation_p.S337F	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	337					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.S337Y(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TATGTGAATTCTCTGATCAAC	0.438000														92			39		0	0	0.00128727	0	0
LGR5	8549	broad.mit.edu	37	12	71978151	71978151	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:71978151C>T	uc001swl.3	+	17	2409	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	LGR5_uc001swm.3_Silent_p.F763F|LGR5_uc021rar.1_Silent_p.F715F|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	787						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCTTGTCCTTCTCCTCTTTAA	0.433000														557			106		0	0	0.00361006	0	0
SYT16	83851	broad.mit.edu	37	14	62462985	62462985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:62462985C>T	uc001xfu.1	+	0	445	c.248C>T	c.(247-249)tCc>tTc	p.S83F	SYT16_uc010tsd.1_Missense_Mutation_p.S83F	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	83										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GATGCAAATTCCTTGTTTCTT	0.388000														137			17		0	0	0.00074312	0	0
ANK3	288	broad.mit.edu	37	10	61832325	61832325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:61832325C>T	uc001jky.3	-	36	8652	c.8314G>A	c.(8314-8316)Gac>Aac	p.D2772N	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.	2772					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						TCTGGGAGGTCTATGGCCTTC	0.398000														73			14		0	0	0.00244969	0	0
DLG1	1739	broad.mit.edu	37	3	196842847	196842847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:196842847C>T	uc010ial.3	-	13	1752	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E	DLG1_uc011bub.2_Missense_Mutation_p.G382E|DLG1_uc011buc.2_Missense_Mutation_p.G382E|DLG1_uc011bud.2_Missense_Mutation_p.G181E|DLG1_uc003fxo.4_Missense_Mutation_p.G498E|DLG1_uc003fxn.4_Missense_Mutation_p.G498E|DLG1_uc011bue.2_Missense_Mutation_p.G465E|DLG1_uc011buf.1_Intron|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.G465E|DLG1_uc010ian.2_Missense_Mutation_p.G365E	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	498	PDZ 3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATCAGCAGGTCCTCCGGCTAA	0.408000														81			16		0	0	0.00074312	0	0
HEATR7B2	133558	broad.mit.edu	37	5	40998744	40998744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:40998744C>T	uc003jmj.4	-	40	5111	c.4621G>A	c.(4621-4623)Gag>Aag	p.E1541K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E1096K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1541							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCTAGTAACTCCACATATTGG	0.378000														13			3		0	0	6.4e-05	0	0
POTEC	388468	broad.mit.edu	37	18	14543062	14543063	+	Missense_Mutation	DNP	AA	GC	GC	rs45469106		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:14543062_14543063AA>GC	uc010dln.3	-	0	537_538	c.83_84TT>GC	c.(82-84)ttt>tGC	p.F28C	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	28			F -> C (in dbSNP:rs45626231).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGCGGTGGTGAAACCACTTGCC	0.550000														63			6		0	0	6.4e-05	0	0
TLR2	7097	broad.mit.edu	37	4	154625275	154625276	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:154625275_154625276GG>AA	uc003inq.3	+	2	1435_1436	c.1216_1217GG>AA	c.(1216-1218)gga>AAa	p.G406K	TLR2_uc003inr.3_Missense_Mutation_p.G406K|TLR2_uc003ins.3_Missense_Mutation_p.G406K|TLR2_uc021xtl.1_Missense_Mutation_p.G406K	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	406					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GGAAAAAACCGGAGAGACTTTG	0.371000														44			12		0	0	6.4e-05	0	0
VN1R5	317705	broad.mit.edu	37	1	247419800	247419800	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:247419800C>T	uc010pyu.2	+	1	424	c.424C>T	c.(424-426)Cag>Tag	p.Q142*		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	143					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			GAGTGTGCTCCAGGCCATCAT	0.478000														85			19		0	0	0.00074312	0	0
COL21A1	81578	broad.mit.edu	37	6	56035923	56035923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:56035923G>A	uc003pcs.3	-	3	876	c.644C>T	c.(643-645)tCt>tTt	p.S215F	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.S215F|COL21A1_uc003pcu.1_Missense_Mutation_p.S215F	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	215					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)			TGGACAGACAGATTCTATAAA	0.313000														83			18		0	0	0.00188189	0	0
CADPS	8618	broad.mit.edu	37	3	62535619	62535619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:62535619C>T	uc003dll.2	-	10	2285	c.1925G>A	c.(1924-1926)gGa>gAa	p.G642E	CADPS_uc003dlk.1_Missense_Mutation_p.G146E|CADPS_uc003dlm.2_Missense_Mutation_p.G642E|CADPS_uc003dln.2_Missense_Mutation_p.G642E|CADPS_uc021wzv.1_Missense_Mutation_p.G642E	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	642					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TACATTTCCTCCCTTGGCGTT	0.498000														87			25		0	0	0.00465635	0	0
VRTN	55237	broad.mit.edu	37	14	74825059	74825059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:74825059C>T	uc021rwl.1	+	0	1573	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	VRTN_uc001xpw.4_Missense_Mutation_p.P525S	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	525					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGGGCATCTCCCTTTCTGCCG	0.662000														106			30		0	0	0.0024448	0	0
NOTCH2	4853	broad.mit.edu	37	1	120496233	120496233	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:120496233G>A	uc001eik.3	-	13	2595	c.2298C>T	c.(2296-2298)tgC>tgT	p.C766C	NOTCH2_uc001eil.3_Silent_p.C766C|NOTCH2_uc021osy.1_Silent_p.C727C|NOTCH2_uc001eim.4_Silent_p.C683C	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	766	EGF-like 20; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCCATTCTGGCATGGATTCG	0.413000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					568			122		0	0	0.00361006	0	0
CYP21A2	1589	broad.mit.edu	37	6	32006367	32006367	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:32006367C>T	uc003nze.2	+	0	275	c.168C>T	c.(166-168)ttC>ttT	p.F56F	CYP21A2_uc003nzf.2_Silent_p.F56F	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	55			G -> R (in AH3; loss of activity).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CTCAGAAATTCGGGCCCATCT	0.642000														35			18		0	0	0.00121646	0	0
WFDC10A	140832	broad.mit.edu	37	20	44259522	44259522	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:44259522C>T	uc002xoz.3	+	1	173	c.105C>T	c.(103-105)tcC>tcT	p.S35S	WFDC9_uc002xoy.3_Intron	NM_080753	NP_542791	Q9H1F0	WF10A_HUMAN	Homo sapiens WAP four-disulfide core domain 10A (WFDC10A), mRNA.	35	WAP.					extracellular region	serine-type endopeptidase inhibitor activity			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CACAGCTATCCCCAGAAATCA	0.413000														26			7		0	0	0.00307968	0	0
EFCAB11	90141	broad.mit.edu	37	14	90397973	90397973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:90397973G>A	uc001xxt.3	-	4	407	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	EFCAB11_uc001xxs.3_Missense_Mutation_p.R84C|EFCAB11_uc001xxv.1_Non-coding_Transcript|EFCAB11_uc001xxw.2_Missense_Mutation_p.R84C|EFCAB11_uc001xxx.2_Missense_Mutation_p.R108C	NM_145231	NP_660274	Q9BUY7	EFC11_HUMAN	Homo sapiens EF-hand calcium binding domain 11 (EFCAB11), mRNA.	108	EF-hand 2.						calcium ion binding			large_intestine(1)|lung(1)	2						AAAAATCCACGATCTATTTGA	0.313000														65			16		0	0	0.00400662	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054220	160054220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:160054220G>A	uc001fuy.1	+	1	642	c.400G>A	c.(400-402)Gag>Aag	p.E134K		NM_004983	NP_004974	Q92806	IRK9_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 9 (KCNJ9), mRNA.	134					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	p.E134K(2)|p.P133S(1)		biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGTGCCCCGAGGGCATCGT	0.627000														30			8		0	0	0.00307968	0	0
SLC4A11	83959	broad.mit.edu	37	20	3210286	3210286	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:3210286G>A	uc010zqe.2	-	13	1880	c.1755C>T	c.(1753-1755)gcC>gcT	p.A585A	SLC4A11_uc002wig.3_Silent_p.A558A|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.A542A	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	558	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCGTGGGGCTGGCGAGGAAGC	0.647000														35			9		0	0	0.000673444	0	0
CARD11	84433	broad.mit.edu	37	7	2987361	2987361	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:2987361C>A	uc003smv.3	-	2	402	c.68G>T	c.(67-69)tGg>tTg	p.W23L		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	23	CARD.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CACATTCTCCCACAAGGCGTC	0.507000			Mis		DLBCL									162			6		0.00198382	0.00638541	0.00198382	1	0
TNR	7143	broad.mit.edu	37	1	175293520	175293520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:175293520C>T	uc001gkp.1	-	19	4010	c.3929G>A	c.(3928-3930)gGg>gAg	p.G1310E	TNR_uc009wwu.1_Missense_Mutation_p.G1310E	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1310	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCGTACTTCCCATTGAGGTT	0.502000														37			5		0	0	0.00116845	0	0
UGT2B10	7365	broad.mit.edu	37	4	69687989	69687989	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:69687989G>A	uc003hee.3	+	3	893	c.868_splice	c.e3-1	p.E290_splice	UGT2B10_uc011cam.2_Splice_Site_p.E206_splice	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	290					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTTCCCACCGGAAATGGAGGA	0.393000														90			12		0	0	0.00244969	0	0
C8orf34	116328	broad.mit.edu	37	8	69621309	69621309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:69621309C>T	uc010lyz.3	+	8	1613	c.1322C>T	c.(1321-1323)tCa>tTa	p.S441L	C8orf34_uc003xyb.3_Missense_Mutation_p.S330L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	355					signal transduction		cAMP-dependent protein kinase regulator activity	p.S355*(1)|p.S330*(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATCCCAGATTCATTCGGTAAG	0.343000														15			5		0	0	0.000602214	0	0
FMN2	56776	broad.mit.edu	37	1	240635710	240635710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:240635710G>A	uc010pye.2	+	17	5336	c.5111G>A	c.(5110-5112)gGa>gAa	p.G1704E	FMN2_uc010pyd.2_Missense_Mutation_p.G1700E|FMN2_uc010pyg.2_Missense_Mutation_p.G296E|FMN2_uc001hyr.3_Non-coding_Transcript	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1700					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAAGAAAGGAAAATCACTT	0.318000														67			16		0	0	0.000566183	0	0
RANBP3L	202151	broad.mit.edu	37	5	36251594	36251594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:36251594G>A	uc011cow.2	-	13	1743	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	RANBP3L_uc003jkh.3_Missense_Mutation_p.A392V	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	392	RanBD1.				intracellular transport			p.A392D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TGTATCTTGGGCACTGGCCTG	0.348000														28			17		0	0	0.00400662	0	0
PRODH2	58510	broad.mit.edu	37	19	36303159	36303159	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:36303159C>T	uc002obx.1	-	3	633	c.615G>A	c.(613-615)gaG>gaA	p.E205E		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	205					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGAGGTTCCCCTCATACCACG	0.677000														45			8		0	0	0.000442599	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186863340	186863340	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:186863340C>T	uc001gsc.3	+	4	580	c.375C>T	c.(373-375)aaC>aaT	p.N125N	PLA2G4A_uc010pos.2_Silent_p.N125N	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	125	Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TTATTTTCAACCAAGTAAGTA	0.333000														43			10		0	0	0.000673444	0	0
OR11G2	390439	broad.mit.edu	37	14	20665950	20665950	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:20665950C>T	uc010tlb.2	+	0	456	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AATGCTTTTTCCTGGCAGTTA	0.473000														33			13		0	0	0.00136819	0	0
SLC6A16	28968	broad.mit.edu	37	19	49812295	49812295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:49812295G>A	uc002pmz.3	-	6	1301	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	SLC6A16_uc002pna.3_Missense_Mutation_p.S356F|MIR4324_uc021uxj.1_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	356						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GGAGGCAACGGAGCCAAGGCC	0.473000														112			23		0	0	0.00278032	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000														87			5		0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179432542	179432542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:179432542G>A	uc021vsy.1	-	274	70838	c.70613C>T	c.(70612-70614)aCt>aTt	p.T23538I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T17233I|TTN_uc021vta.1_Missense_Mutation_p.T17166I|TTN_uc021vtb.1_Missense_Mutation_p.T17041I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24465	Ig-like 119.						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)			CCACTGTAAAGTGATTTCATT	0.433000														143			33		0	0	0.00178596	0	0
TROAP	10024	broad.mit.edu	37	12	49720992	49720992	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:49720992C>T	uc009zlh.3	+	8	937	c.770_splice	c.e8-1	p.A257_splice	TROAP_uc001rtx.4_Splice_Site_p.A257_splice	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	257					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TTCTTCCTAGCTTTCTCTCTT	0.458000														95			23		0	0	0.00395357	0	0
RYR1	6261	broad.mit.edu	37	19	38951143	38951143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:38951143G>A	uc002oit.3	+	19	2619	c.2489G>A	c.(2488-2490)cGg>cAg	p.R830Q	RYR1_uc002oiu.3_Missense_Mutation_p.R830Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	830					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R830W(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGTATCGACGGGAGGGGCCC	0.637000														108			24		0	0	0.000878237	0	0
PSG7	5676	broad.mit.edu	37	19	43430700	43430700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:43430700C>T	uc002ovl.4	-	4	977	c.875G>A	c.(874-876)aGg>aAg	p.R292K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.R171K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	293	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				AATGAGGATCCTGTTTTCAAT	0.502000														86			51		0	0	0.00361006	0	0
FREM2	341640	broad.mit.edu	37	13	39425984	39425984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr13:39425984G>A	uc001uwv.3	+	10	7213	c.6904G>A	c.(6904-6906)Gac>Aac	p.D2302N	FREM2_uc001uww.3_Missense_Mutation_p.D388N	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2302	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTCTGGAGAAGACTACCACCC	0.517000														46			13		0	0	0.00400662	0	0
SRPK3	26576	broad.mit.edu	37	X	153049256	153049256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:153049256G>A	uc004fik.3	+	14	3447	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	SRPK3_uc004fim.3_Missense_Mutation_p.R274Q|SRPK3_uc004fil.3_Missense_Mutation_p.R275Q|SRPK3_uc004fin.3_Missense_Mutation_p.R274Q|SRPK3_uc010nul.3_Missense_Mutation_p.R232Q	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	275	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCGCAAACGGAAACAGCAG	0.642000														15			5		0	0	0.00116845	0	0
ANK3	288	broad.mit.edu	37	10	61958111	61958111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:61958111G>A	uc001jky.3	-	13	2014	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	ANK3_uc010qih.2_Missense_Mutation_p.S542F|ANK3_uc001jkz.4_Missense_Mutation_p.S553F|ANK3_uc001jlb.1_Missense_Mutation_p.S88F|ANK3_uc001jlc.1_Missense_Mutation_p.S220F	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	559					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						TGTTGTTATAGATAAAGACGC	0.498000														47			8		0	0	0.000673444	0	0
LRRC7	57554	broad.mit.edu	37	1	70493974	70493974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:70493974C>T	uc001dep.3	+	15	1831	c.1801C>T	c.(1801-1803)Cca>Tca	p.P601S	LRRC7_uc009wbg.3_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	601						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAATTCAAATCCAACTGCTAA	0.408000														32			8		0	0	0.00307968	0	0
ZGPAT	84619	broad.mit.edu	37	20	62370075	62370076	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:62370075_62370076CC>TT	uc002ygp.4	+	5	1659_1660	c.710_711CC>TT	c.(709-711)acc>aTT	p.T237I	ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_3'UTR|SLC2A4RG_uc002ygq.3_5'Flank|SLC2A4RG_uc002ygr.3_5'Flank|SLC2A4RG_uc011abj.2_5'Flank|SLC2A4RG_uc002ygs.3_5'Flank	NM_017806	NP_060276	Q8N5A5	ZGPAT_HUMAN	Homo sapiens Lck interacting transmembrane adaptor 1 (LIME1), mRNA.	0					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R237H(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCCTACCAGACCCTCCCGCTCA	0.673000														19			9		0	0	6.4e-05	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137540	63137540	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:63137540G>A	uc001nww.3	+	0	280	c.12G>A	c.(10-12)caG>caA	p.Q4Q	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	4					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGGCCTTTCAGGACCTCCTGG	0.443000														72			26		0	0	0.000878237	0	0
MUC17	140453	broad.mit.edu	37	7	100686452	100686452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:100686452C>T	uc003uxp.1	+	2	11808	c.11755C>T	c.(11755-11757)Cct>Tct	p.P3919S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3919						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCCACAATTCCTGTAGCCAC	0.493000														127			23		0	0	0.000878237	0	0
AARS2	57505	broad.mit.edu	37	6	44274093	44274093	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:44274093G>A	uc010jza.1	-	8	1227	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	408					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GGGAGGCCAGGAAGGCTGCCT	0.587000														92			22		0	0	0.00152264	0	0
OR52R1	119695	broad.mit.edu	37	11	4825218	4825218	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:4825218G>A	uc021qcs.1	-	0	393	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCGGAGTGGGAAGCAGATAG	0.567000														42			12		0	0	0.000978159	0	0
PTPRE	5791	broad.mit.edu	37	10	129866543	129866543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:129866543C>T	uc009yat.3	+	12	1450	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	PTPRE_uc001lkb.3_Missense_Mutation_p.H334Y|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Missense_Mutation_p.H334Y|PTPRE_uc001lkd.3_Missense_Mutation_p.H276Y|PTPRE_uc010quq.1_Missense_Mutation_p.H235Y	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	334	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CATCGTGGTCCACTGTAGGTA	0.607000														21			5		0	0	0.000442599	0	0
TDG	6996	broad.mit.edu	37	12	104373736	104373736	+	Silent	SNP	T	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:104373736T>C	uc001tkg.3	+	2	517	c.294T>C	c.(292-294)atT>atC	p.I98I	TDG_uc010swh.1_Silent_p.I98I|TDG_uc009zuk.3_Silent_p.I94I|TDG_uc010swi.2_5'UTR|TDG_uc010swj.2_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	98					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	p.I98fs*6(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAGAAAAAATTACAGACACAT	0.358000								Base excision repair (BER), DNA glycosylases						70			4		0	0	0.00024832	0	0
RYR1	6261	broad.mit.edu	37	19	38976536	38976536	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:38976536C>T	uc002oit.3	+	33	5371	c.5241C>T	c.(5239-5241)ttC>ttT	p.F1747F	RYR1_uc002oiu.3_Silent_p.F1747F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1747	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACGCTCTTCCCTCCTGGAA	0.632000														41			13		0	0	0.00136819	0	0
FAM5C	339479	broad.mit.edu	37	1	190195314	190195314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:190195314G>A	uc001gse.1	-	5	1091	c.859C>T	c.(859-861)Cca>Tca	p.P287S	FAM5C_uc010pot.1_Missense_Mutation_p.P185S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	287						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTGCATTCTGGAAATTTGGGA	0.438000														62			17		0	0	0.00121646	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	T	T	rs367060		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:16946434C>T	uc010ocf.2	-	2		c.464G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CTCAGCCTTCCGCCGGGCCAG	0.672000														20			7		0	0	0.00307968	0	0
immunoglobulin_heavy_chain	0	broad.mit.edu	37	14	107034925	107034925	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:107034925C>T	uc001ysz.3	-	1	184	c.155G>A	c.(154-156)tGg>tAg	p.W52*	abParts_uc021ser.1_Non-coding_Transcript					Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene.																		CCAGCCGATCCAGTAGCTGGT	0.577000														9			5		0	0	0.000602214	0	0
KLK13	26085	broad.mit.edu	37	19	51559967	51559967	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:51559967G>A	uc002pvn.3	-	4	754	c.711C>T	c.(709-711)ttC>ttT	p.F237F	KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Silent_p.F164F|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Silent_p.F85F	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	237	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GCCCACATGGGAAGTCTCCCC	0.542000														99			32		0	0	0.00178596	0	0
TMEM168	64418	broad.mit.edu	37	7	112423923	112423923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:112423923G>A	uc003vgn.3	-	1	1350	c.958C>T	c.(958-960)Cat>Tat	p.H320Y	TMEM168_uc010lju.3_Missense_Mutation_p.H320Y|TMEM168_uc011kmr.2_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	320						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AATTTGGTATGGAATCCCCAA	0.348000														196			38		0	0	0.00128727	0	0
ABCG8	64241	broad.mit.edu	37	2	44079738	44079738	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:44079738G>A	uc002rtq.3	+	6	785	c.695_splice	c.e6-1	p.G232_splice	ABCG8_uc010yoa.2_Splice_Site_p.G232_splice	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	232	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTTGGAAAGGAATCCTTATT	0.622000														217			42		0	0	0.0025221	0	0
C1QL4	338761	broad.mit.edu	37	12	49726990	49726990	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:49726990G>A	uc001rtz.1	-	1	1275	c.564C>T	c.(562-564)gaC>gaT	p.D188D		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	Homo sapiens complement component 1, q subcomponent-like 4 (C1QL4), mRNA.	188	C1q.					collagen				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						TCTGGTCCGCGTCCTGAGCAA	0.642000														24			7		0	0	0.00198382	0	0
MFN2	9927	broad.mit.edu	37	1	12057476	12057476	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:12057476C>T	uc001atn.4	+	5	1050	c.597C>T	c.(595-597)gaC>gaT	p.D199D	MFN2_uc009vni.3_Silent_p.D199D	NM_014874	NP_055689	O95140	MFN2_HUMAN	Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	199					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTTTGATGGACAGGTAAGAGG	0.567000														59			15		0	0	0.00400662	0	0
CYP2C19	1557	broad.mit.edu	37	10	96480239	96480239	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:96480239G>A	uc001kjv.4	+	5	1232	c.906G>A	c.(904-906)acG>acA	p.T302T	CYP2C19_uc001kjw.4_Silent_p.T243T|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	302					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAGAGACAACGAGCACCACTC	0.423000														53			30		0	0	0.00209593	0	0
MMP20	9313	broad.mit.edu	37	11	102487566	102487566	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:102487566C>T	uc001phc.3	-	1	364	c.351G>A	c.(349-351)tgG>tgA	p.W117*		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	117					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TATTTTTTTTCCATTTGGGTT	0.408000														31			5		0	0	0.000602214	0	0
ABCC12	94160	broad.mit.edu	37	16	48155664	48155664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr16:48155664C>T	uc002efc.1	-	10	2021	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.E559K	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	559	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGTATGTTTTCTCTCACATTT	0.428000														27			4		0	0	0.00024832	0	0
LRRK1	79705	broad.mit.edu	37	15	101606336	101606337	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:101606336_101606337GG>AA	uc002bwr.3	+	31	6013_6014	c.5694_5695GG>AA	c.(5692-5697)atggac>atAAac	p.1898_1899MD>IN	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1898					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGACCCCCATGGACGGGGAGAC	0.609000														88			17		0	0	6.4e-05	0	0
C20orf152	140894	broad.mit.edu	37	20	34618533	34618533	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:34618533A>G	uc002xer.1	+	11	1838	c.1682A>G	c.(1681-1683)aAa>aGa	p.K561R	C20orf152_uc002xes.1_3'UTR|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	565										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					CAAGCCATCAAAGCACCTCGG	0.463000														220			34		0	0	0.00170553	0	0
BRAF	673	broad.mit.edu	37	7	140494149	140494149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:140494149G>A	uc003vwc.4	-	7	1160	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	367					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		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)	TGCACATTGGGAGCTGATGAG	0.393000		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					79			48		0	0	0.00361006	0	0
ADAM28	10863	broad.mit.edu	37	8	24193108	24193108	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:24193108G>A	uc003xdy.3	+	13	1604	c.1521G>A	c.(1519-1521)ggG>ggA	p.G507G	ADAM28_uc003xdx.3_Silent_p.G507G|ADAM28_uc011kzz.2_Silent_p.G274G|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.G194G	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	507	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCTTGATGGGGACATGCCCCA	0.502000														18			7		0	0	0.00307968	0	0
NETO1	81832	broad.mit.edu	37	18	70526084	70526084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:70526084G>A	uc002lkw.3	-	3	730	c.446C>T	c.(445-447)tCa>tTa	p.S149L	NETO1_uc002lky.2_Missense_Mutation_p.S149L|NETO1_uc002lkz.3_Missense_Mutation_p.S148L	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	149	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GTATCGAGCTGAAAATCCCAT	0.328000														56			19		0	0	0.00188189	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390930	8390930	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:8390930C>T	uc001apb.3	+	3	1377	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	SLC45A1_uc001apc.3_Silent_p.I157I	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	459					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTGGCCATCCCGGACGCAG	0.597000														84			22		0	0	0.00278032	0	0
abParts	0	broad.mit.edu	37	14	106573144	106573144	+	Splice_Site	SNP	T	A	A	rs76812739		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:106573144T>A	uc021ser.1	-	1892		c.35472_splice	c.e1892-1							Parts of antibodies, mostly variable regions.																		AGCCCCGTGCTCAGTGTCCCG	0.647000														32			4		0	0	0.000602214	0	0
TRIM22	10346	broad.mit.edu	37	11	5730400	5730400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:5730400C>T	uc001mbr.3	+	7	1398	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.S168F|TRIM22_uc009yes.3_Missense_Mutation_p.S336F|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	340	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGTGATTTTTCTGCTTTTGGT	0.443000														65			22		0	0	0.00229938	0	0
KRT222	125113	broad.mit.edu	37	17	38813964	38813964	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:38813964T>A	uc002hvc.2	-	3	550	c.485A>T	c.(484-486)aAg>aTg	p.K162M	KRT222_uc002hvb.2_Missense_Mutation_p.K122M|KRT222_uc010cxc.3_Missense_Mutation_p.K122M	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	162						intermediate filament	structural molecule activity	p.K162R(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TGTGGTAGGCTTTTTGTCTTT	0.308000														98			14		0	0	0.000566183	0	0
QPCTL	54814	broad.mit.edu	37	19	46201889	46201889	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:46201889T>G	uc010xxr.2	+	3	939	c.718T>G	c.(718-720)Tcc>Gcc	p.S240A	QPCTL_uc010ekn.3_Missense_Mutation_p.S146A	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase-like (QPCTL), transcript variant 1, mRNA.	240					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	p.S240F(1)		breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCTTTACGGTTCCCGGCACCT	0.632000														20			8		0	0	0.00448238	0	0
ABCC8	6833	broad.mit.edu	37	11	17426145	17426145	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:17426145G>A	uc001mnc.3	-	27	3597	c.3471C>T	c.(3469-3471)tcC>tcT	p.S1157S		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1157	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GTGTGACATAGGAGATGACGG	0.622000														153			34		0	0	0.00128727	0	0
GRIK1	2897	broad.mit.edu	37	21	30933998	30933998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:30933998G>A	uc002yno.1	-	14	2767	c.2303C>T	c.(2302-2304)aCt>aTt	p.T768I	GRIK1_uc002ynn.3_Missense_Mutation_p.T753I|GRIK1_uc011acs.2_Missense_Mutation_p.T768I|GRIK1_uc011act.2_Missense_Mutation_p.T629I	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	768					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CCCGATCTGAGTGAGGTTGCA	0.507000														67			12		0	0	0.00244969	0	0
LILRB2	10288	broad.mit.edu	37	19	54779819	54779819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:54779819C>T	uc002qfb.3	-	12	1902	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_3'UTR|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.E545K|LILRB2_uc010yet.2_Missense_Mutation_p.E430K	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	546					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGTCCATCTCCACCCCATCT	0.622000														107			18		0	0	0.00152264	0	0
PGK2	5232	broad.mit.edu	37	6	49754065	49754065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:49754065C>T	uc003ozu.3	-	0	989	c.836G>A	c.(835-837)aGg>aAg	p.R279K		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	279					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAAAGTAATCCTTACACCATT	0.443000														122			21		0	0	0.00188189	0	0
TTN	7273	broad.mit.edu	37	2	179603011	179603011	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:179603011G>A	uc021vsy.1	-	45	10662	c.10437C>T	c.(10435-10437)atC>atT	p.I3479I	TTN_uc021vsz.1_Silent_p.I4552I|TTN_uc021vta.1_Silent_p.I4485I|TTN_uc021vtb.1_Silent_p.I4360I|TTN_uc002umz.1_Silent_p.I140I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4406							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)			GAGCACTTTGGATCTCACAGG	0.478000														23			5		0	0	0.00198382	0	0
OR8S1	341568	broad.mit.edu	37	12	48920222	48920222	+	Silent	SNP	T	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:48920222T>C	uc010slu.2	+	0	808	c.808T>C	c.(808-810)Ttg>Ctg	p.L270L		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CCCCATAGAGTTGATCTTCTC	0.478000														75			22		0	0	0.00229938	0	0
FANCM	57697	broad.mit.edu	37	14	45645534	45645534	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:45645534C>T	uc001wwd.4	+	13	3676	c.3577C>T	c.(3577-3579)Caa>Taa	p.Q1193*	FANCM_uc010anf.3_Nonsense_Mutation_p.Q1167*|FANCM_uc001wwe.4_Nonsense_Mutation_p.Q729*|FANCM_uc010ang.3_Nonsense_Mutation_p.Q407*	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1193					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ACTCCAAGATCAAATCACCCG	0.378000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					51			9		0	0	0.00448238	0	0
CHD5	26038	broad.mit.edu	37	1	6206310	6206310	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:6206310C>T	uc001amb.2	-	10	1875	c.1764G>A	c.(1762-1764)aaG>aaA	p.K588K	CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	588					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCACTCTGGCTTGATGCCAT	0.587000														90			20		0	0	0.00465635	0	0
TFF1	7031	broad.mit.edu	37	21	43786599	43786599	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:43786599G>A	uc002zax.1	-	0	46	c.6C>T	c.(4-6)gcC>gcT	p.A2A		NM_003225	NP_003216	P04155	TFF1_HUMAN	Homo sapiens trefoil factor 1 (TFF1), mRNA.	2					carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						TCTCCATGGTGGCCATTGCCT	0.622000														26			5		0	0	0.00116845	0	0
TNFSF10	8743	broad.mit.edu	37	3	172241118	172241118	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:172241118G>A	uc003fid.3	-	0	180	c.57C>T	c.(55-57)atC>atT	p.I19I	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Silent_p.I19I|TNFSF10_uc010hwu.2_Silent_p.I19I	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	19					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGAAGATCACGATCAGCACGC	0.562000														62			17		0	0	0.00121646	0	0
TNFSF9	8744	broad.mit.edu	37	19	6535044	6535044	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:6535044C>T	uc002mfh.2	+	2	770	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	244					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	p.E243Q(1)		central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CCCCCGAAATCCCAGCCGGAC	0.632000														20			5		0	0	0.000602214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439294	110439294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:110439294G>A	uc003yne.3	+	24	3013	c.2909G>A	c.(2908-2910)gGa>gAa	p.G970E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	970					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.E969*(1)		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)			GAGGGAATGGGAAGAATCTCA	0.552000										HNSCC(38;0.096)				60			14		0	0	0.00185496	0	0
SNX19	399979	broad.mit.edu	37	11	130750627	130750627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:130750627G>A	uc001qgk.4	-	8	3196	c.2648C>T	c.(2647-2649)tCc>tTc	p.S883F	SNX19_uc010sce.2_Missense_Mutation_p.S263F|SNX19_uc010scf.2_Missense_Mutation_p.S326F|SNX19_uc010scg.2_Missense_Mutation_p.S120F	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	883					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGGCCAGATGGACTCCTGAAG	0.532000														77			24		0	0	0.00395357	0	0
TPTE	7179	broad.mit.edu	37	21	10942740	10942740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:10942740C>T	uc002yip.1	-	12	1069	c.701G>A	c.(700-702)gGa>gAa	p.G234E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G216E|TPTE_uc002yir.1_Missense_Mutation_p.G196E|TPTE_uc010gkv.1_Missense_Mutation_p.G96E	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	234	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGGTCAAATCCATCCCTTGT	0.318000														526			25		0	0	0.00465635	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926721	22926721	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr16:22926721G>A	uc002dli.3	+	1	1014	c.942G>A	c.(940-942)ttG>ttA	p.L314L		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	314						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCCCTTGCTTGAAAAAAACAG	0.488000														160			30		0	0	0.00127121	0	0
LMBR1	64327	broad.mit.edu	37	7	156480769	156480769	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:156480769G>A	uc010lqn.3	-	16	1680	c.1465C>T	c.(1465-1467)Cga>Tga	p.R489*	LMBR1_uc003wmv.4_Intron|LMBR1_uc003wmw.4_Nonsense_Mutation_p.R448*|LMBR1_uc003wmx.4_Nonsense_Mutation_p.R296*|LMBR1_uc011kvx.2_Intron	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	448						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GTGAATTTTCGGACCAGACAC	0.363000														75			43		0	0	0.0025221	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:168100393G>A	uc002udx.3	+	8	2580	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E656K|XIRP2_uc010fpq.3_Missense_Mutation_p.E609K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATTGAAAAGGAAAAAATAAT	0.388000														101			20		0	0	0.00188189	0	0
FLG	2312	broad.mit.edu	37	1	152279804	152279804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:152279804C>T	uc001ezu.1	-	2	7594	c.7558G>A	c.(7558-7560)Gat>Aat	p.D2520N		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2520	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCATCGTTACGAGTT	0.587000									Ichthyosis					251			51		0	0	0.00361006	0	0
NWD1	284434	broad.mit.edu	37	19	16918517	16918517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:16918517C>T	uc002neu.4	+	17	4279	c.3857C>T	c.(3856-3858)tCc>tTc	p.S1286F	NWD1_uc002net.4_Missense_Mutation_p.S1151F|NWD1_uc002nev.4_Missense_Mutation_p.S1080F|NWD1_uc021uqg.1_Missense_Mutation_p.S1151F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1286							ATP binding	p.R1285H(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCCTGAATTCCAGGCAGGAC	0.597000														32			6		0	0	0.00116845	0	0
SI	6476	broad.mit.edu	37	3	164733000	164733000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:164733000C>T	uc003fei.3	-	32	3973	c.3910G>A	c.(3910-3912)Gaa>Aaa	p.E1304K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1304	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCTTTGTTTCATTTCCTGAA	0.353000										HNSCC(35;0.089)				41			5		0	0	0.000602214	0	0
KRT75	9119	broad.mit.edu	37	12	52825846	52825846	+	Missense_Mutation	SNP	C	T	T	rs142963541	byFrequency	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:52825846C>T	uc001saj.2	-	2	740	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	240	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		ATTTCATCTTCGTACCTATAA	0.448000														39			8		0	0	0.00448238	0	0
KCTD8	386617	broad.mit.edu	37	4	44176896	44176896	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:44176896G>A	uc003gwu.3	-	1	1617	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	445						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.Q445K(2)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTAAAATCCTGAATACACTTT	0.388000										HNSCC(17;0.042)				128			19		0	0	0.00074312	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136247	92136247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:92136247G>A	uc001xzs.1	-	13	1338	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	CATSPERB_uc010aub.1_5'UTR	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	400					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.P400S(2)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CGAAAAATTGGAAATTTTGAT	0.408000														45			18		0	0	0.00074312	0	0
PSG2	5670	broad.mit.edu	37	19	43575885	43575885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:43575885C>T	uc002ovr.3	-	3	1103	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	311	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTGGAGCTTTCCTCGCCAGTG	0.468000														169			42		0	0	0.00222228	0	0
DNAH7	56171	broad.mit.edu	37	2	196750931	196750931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:196750931C>T	uc002utj.4	-	33	5573	c.5472G>A	c.(5470-5472)atG>atA	p.M1824I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1824					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						CAAAATCATCCATAAAACAGT	0.368000														58			6		0	0	0.00116845	0	0
NME9	347736	broad.mit.edu	37	3	138038353	138038353	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:138038353G>A	uc003esg.3	-	2	190	c.162C>T	c.(160-162)atC>atT	p.I54I	NME9_uc003esd.1_Non-coding_Transcript|NME9_uc010huf.1_Silent_p.I32I|NME9_uc003ese.1_Silent_p.I32I	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	54	Thioredoxin.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GGCCGACCTCGATCCTCATCT	0.438000														252			44		0	0	0.00361006	0	0
SALL1	6299	broad.mit.edu	37	16	51173761	51173761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr16:51173761C>T	uc021tif.1	-	1	2403	c.2081G>A	c.(2080-2082)gGc>gAc	p.G694D	SALL1_uc021tid.1_Missense_Mutation_p.G694D|SALL1_uc021tie.1_Missense_Mutation_p.G791D|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	791					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGGGATCTGGCCTCCCATATG	0.537000														57			21		0	0	0.00152264	0	0
TIAM2	26230	broad.mit.edu	37	6	155451108	155451108	+	Missense_Mutation	SNP	G	A	A	rs151266968		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:155451108G>A	uc003qqb.3	+	5	2024	c.751G>A	c.(751-753)Gac>Aac	p.D251N	TIAM2_uc003qqe.3_Missense_Mutation_p.D251N	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	251					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ATCCTGGTACGACTCCCCTTG	0.662000														74			15		0	0	0.00074312	0	0
NKX3-1	4824	broad.mit.edu	37	8	23539056	23539056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:23539056C>T	uc011kzx.2	-	1	431	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	Homo sapiens NK3 homeobox 1 (NKX3-1), transcript variant 1, mRNA.	128					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GAAGGCAGCTCGGGAGCGCTT	0.582000														123			23		0	0	0.00278032	0	0
INTS4L2	644619	broad.mit.edu	37	7	65157824	65157824	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:65157824G>A	uc003tue.2	+	8		c.1150_splice	c.e8+1		LOC441242_uc003tud.2_Intron					Homo sapiens integrator complex subunit 4-like 2 (INTS4L2), non-coding RNA.																		TGCCTTGAGGGTATGTTGAAA	0.443000														109			33		0	0	0.00375469	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29496318	29496318	+	Silent	SNP	A	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:29496318A>G	uc002kxc.4	-	3	898	c.534T>C	c.(532-534)gaT>gaC	p.D178D	TRAPPC8_uc002kxb.4_Silent_p.D124D|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Silent_p.D178D|TRAPPC8_uc002kxe.2_Silent_p.D178D	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	178					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGTAGGAATAATCACTGTTGT	0.368000														32			5		0	0	0.000602214	0	0
HSPA4L	22824	broad.mit.edu	37	4	128732723	128732723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:128732723G>A	uc003ifm.3	+	11	1763	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	HSPA4L_uc010iny.1_Missense_Mutation_p.E463K|HSPA4L_uc011cgr.2_Missense_Mutation_p.E471K	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	504					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCAAAATTTGGAAGGCGATCA	0.363000														36			7		0	0	0.00198382	0	0
DNMT1	1786	broad.mit.edu	37	19	10265584	10265585	+	Missense_Mutation	DNP	GA	TC	TC			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:10265584_10265585GA>TC	uc002mng.3	-	18	1772_1773	c.1592_1593TC>GA	c.(1591-1593)atc>aGA	p.I531R	DNMT1_uc010xlc.2_Missense_Mutation_p.I547R|DNMT1_uc002mnh.3_Missense_Mutation_p.I426R|DNMT1_uc010xld.2_Missense_Mutation_p.I531R	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	531	DNA replication foci-targeting sequence (By similarity).|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTCTTACCTCGATCTTGTTGAT	0.490000														40			12		0	0	6.4e-05	0	0
SEC1	653677	broad.mit.edu	37	19	49183512	49183512	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:49183512C>T	uc010xzv.2	+	4	659	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	SEC1_uc002pka.3_Silent_p.L138L|SEC1_uc010xzw.2_Silent_p.L95L|SEC1_uc010ema.3_Silent_p.L84L					Homo sapiens secretory blood group 1 (SEC1), non-coding RNA.																		GTACGCCACGCTGTACGCCCT	0.667000														9			4		0	0	0.00024832	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951428	119951428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:119951428G>A	uc010inb.3	+	3	1694	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K	SYNPO2_uc010ina.3_Missense_Mutation_p.E500K|SYNPO2_uc003icm.4_Missense_Mutation_p.E500K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.E428K|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	500						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAAGAGGAGGGAGAGAATGGA	0.517000														23			9		0	0	0.000442599	0	0
ZNF536	9745	broad.mit.edu	37	19	30936285	30936285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:30936285G>A	uc002nsu.1	+	1	1954	c.1816G>A	c.(1816-1818)Gat>Aat	p.D606N	ZNF536_uc010edd.1_Missense_Mutation_p.D606N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R605R(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCAGTCGGGATTTTTTGTC	0.552000														92			16		0	0	0.00400662	0	0
DCC	1630	broad.mit.edu	37	18	50912421	50912421	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:50912421T>C	uc002lfe.2	+	15	2984	c.2368T>C	c.(2368-2370)Tcc>Ccc	p.S790P	DCC_uc010xdr.1_Missense_Mutation_p.S638P|DCC_uc010dpf.2_Missense_Mutation_p.S445P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	790	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGAGTCAAGTTCCCATTATGT	0.348000														57			10		0	0	0.00136819	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668661	176668661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:176668661G>A	uc001gkz.3	+	7	4336	c.3172G>A	c.(3172-3174)Gat>Aat	p.D1058N	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1058					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						GGTTCTCCGCGATCCCCCATT	0.552000														118			32		0	0	0.00327116	0	0
COL6A2	1292	broad.mit.edu	37	21	47545201	47545201	+	Missense_Mutation	SNP	G	A	A	rs149731632		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:47545201G>A	uc002zia.1	+	23	1874	c.1792G>A	c.(1792-1794)Gtg>Atg	p.V598M	COL6A2_uc002zhz.1_Missense_Mutation_p.V598M|COL6A2_uc002zhy.1_Missense_Mutation_p.V598M	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	598	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CATGACCTACGTGAGGGAGAC	0.687000														129			14		0	0	0.00316338	0	0
CNTN4	152330	broad.mit.edu	37	3	3078962	3078962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:3078962G>A	uc003bpc.3	+	17	2381	c.2042G>A	c.(2041-2043)gGg>gAg	p.G681E	CNTN4_uc003bpb.1_Missense_Mutation_p.G352E|CNTN4_uc021wsg.1_Missense_Mutation_p.G681E|CNTN4_uc003bpd.1_Missense_Mutation_p.G681E|CNTN4_uc003bpe.3_Missense_Mutation_p.G353E|CNTN4_uc003bpf.3_Missense_Mutation_p.G352E|CNTN4_uc003bpg.3_5'Flank	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	681	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AACGTGATTGGGATTGGGGAG	0.532000														182			40		0	0	0.00361006	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138738293	138738293	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:138738293G>T	uc003vun.3	-	11	2741	c.2353C>A	c.(2353-2355)Cta>Ata	p.L785I		NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	785	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCATAAAATAGGAGTTTTCCT	0.378000														78			29		6.38683e-12	2.07483e-11	0.001512	1	0
GPRIN3	285513	broad.mit.edu	37	4	90170427	90170427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:90170427G>A	uc003hsm.1	-	1	1354	c.835C>T	c.(835-837)Cca>Tca	p.P279S	GPRIN3_uc021xqb.1_Missense_Mutation_p.P279S	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	279										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)		TCTGGACCTGGGGGACATGCC	0.557000														110			17		0	0	0.00121646	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														14			4		0	0	0.00116845	0	0
XIRP2	129446	broad.mit.edu	37	2	168102636	168102636	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:168102636G>A	uc002udx.3	+	8	4823	c.4734G>A	c.(4732-4734)ggG>ggA	p.G1578G	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.G1403G|XIRP2_uc010fpq.3_Silent_p.G1356G|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1403					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGAAATAGGGGATGTTCGAA	0.373000														40			4		0	0	0.000602214	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140257349	140257349	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:140257349G>A	uc003lic.2	+	0	2419	c.2292G>A	c.(2290-2292)ccG>ccA	p.P764P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.P764P	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	767					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGAGCCCGCCCAAGACGG	0.557000														11			6		0	0	0.00116845	0	0
DBX2	440097	broad.mit.edu	37	12	45410386	45410386	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:45410386G>A	uc001rok.1	-	3	875	c.703C>T	c.(703-705)Cag>Tag	p.Q235*		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	235						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CTCCTGTTCTGAAACCAAATT	0.378000														73			17		0	0	0.00152264	0	0
ADAM29	11086	broad.mit.edu	37	4	175898057	175898057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:175898057G>A	uc003iuc.3	+	4	2051	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	ADAM29_uc003iud.3_Missense_Mutation_p.E461K|ADAM29_uc010irr.3_Missense_Mutation_p.E461K|ADAM29_uc011cki.2_Missense_Mutation_p.E461K|ADAM29_uc021xuo.1_Missense_Mutation_p.E461K	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	461	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGAGGTCAATGAATGTGATCT	0.448000														60			13		0	0	0.00244969	0	0
P4HA2	8974	broad.mit.edu	37	5	131530617	131530617	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:131530617A>C	uc003kwh.3	-	14	2101	c.1537_splice	c.e14+1	p.V513_splice	P4HA2_uc003kwg.3_Splice_Site_p.V511_splice|P4HA2_uc003kwi.3_Splice_Site_p.V511_splice|P4HA2_uc003kwk.3_Splice_Site_p.V511_splice|P4HA2_uc003kwl.3_Splice_Site_p.V513_splice|P4HA2_uc003kwj.3_Splice_Site_p.V511_splice	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	513	Fe2OG dioxygenase.					endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TAAGACACTCACCCCACTTGC	0.547000														42			9		0	0	0.00136819	0	0
TMEM45B	120224	broad.mit.edu	37	11	129722548	129722548	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:129722548C>T	uc001qfe.1	+	1	232	c.171C>T	c.(169-171)tcC>tcT	p.S57S	TMEM45B_uc001qff.1_Silent_p.S57S	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	Homo sapiens transmembrane protein 45B (TMEM45B), mRNA.	57						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTTTGTTTTCCGTCACTGGTA	0.473000														66			12		0	0	0.00316338	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834136	61834136	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:61834136G>A	uc002yeh.3	-	3	1450	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	YTHDF1_uc011aaq.2_Silent_p.L336L	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	386										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CCGCTTTTCAGATTCCACTCA	0.517000														101			21		0	0	0.00278032	0	0
PCLO	27445	broad.mit.edu	37	7	82584690	82584690	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:82584690G>A	uc003uhx.2	-	4	5868	c.5579C>T	c.(5578-5580)tCa>tTa	p.S1860L	PCLO_uc003uhv.2_Missense_Mutation_p.S1860L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1791					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATGCTAGGTGAATATTCAGA	0.398000														105			67		0	0	0.00361006	0	0
IMPG2	50939	broad.mit.edu	37	3	100961706	100961706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:100961706C>T	uc003duq.2	-	13	3051	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K	IMPG2_uc011bhe.2_Missense_Mutation_p.E813K	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	950	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTGAGGATTTCTAAGTTCTGG	0.413000														52			4		0	0	0.000602214	0	0
MGAT4A	11320	broad.mit.edu	37	2	99251711	99251711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:99251711C>T	uc002sze.3	-	13	1756	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q	MGAT4A_uc010yvm.2_Missense_Mutation_p.R353Q|MGAT4A_uc010fil.3_Missense_Mutation_p.R235Q	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA.	481					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|extracellular region|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.R481Q(2)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						ATCTTCTAATCGTTTGTCTTT	0.274000														39			5		0	0	0.00116845	0	0
TF	7018	broad.mit.edu	37	3	133475818	133475818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:133475818G>A	uc003epu.2	+	11	2563	c.835G>A	c.(835-837)Gag>Aag	p.E279K	TF_uc011blt.2_Missense_Mutation_p.E152K|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.E279K	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	279	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGGCGGCAAGGAGGACTTGAT	0.587000														57			8		0	0	0.00448238	0	0
CLVS2	134829	broad.mit.edu	37	6	123318999	123318999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:123318999C>T	uc003pzi.1	+	1	946	c.77C>T	c.(76-78)aCg>aTg	p.T26M		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	26					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.T26K(3)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AACCCAGACACGCTGCACCAG	0.547000														32			7		0	0	0.00198382	0	0
POLR3B	55703	broad.mit.edu	37	12	106890667	106890667	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:106890667G>A	uc001tlp.3	+	24	3177	c.2955G>A	c.(2953-2955)ggG>ggA	p.G985G	LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Silent_p.G927G	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	985					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ACTACTTGGGGAAAGACTATG	0.463000														44			6		0	0	0.00198382	0	0
OR6C65	403282	broad.mit.edu	37	12	55794498	55794498	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:55794498G>A	uc010spl.2	+	0	186	c.186G>A	c.(184-186)agG>agA	p.R62R		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TCTTCCTCAGGAATTTCTCTT	0.323000														32			10		0	0	0.000442599	0	0
NUP98	4928	broad.mit.edu	37	11	3797192	3797192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:3797192G>A	uc001lyh.3	-	4	836	c.415C>T	c.(415-417)Cct>Tct	p.P139S	NUP98_uc001lyi.3_Missense_Mutation_p.P139S|NUP98_uc001lyj.2_Missense_Mutation_p.P139S|NUP98_uc001lyk.2_Missense_Mutation_p.P139S|NUP98_uc010qxv.2_Missense_Mutation_p.P102S	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	139	Gly/Thr-rich.				DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTGCCAAAAGGATTAGAGGTG	0.388000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									144			34		0	0	0.00428921	0	0
AMHR2	269	broad.mit.edu	37	12	53818663	53818663	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:53818663C>T	uc001scx.2	+	2	483	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	AMHR2_uc009zmy.2_Nonsense_Mutation_p.Q135*|AMHR2_uc021qyg.1_Nonsense_Mutation_p.Q135*	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	135					Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.S134C(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TCCTGGCTCCCAGGGTCCCCA	0.632000														82			10		0	0	0.000978159	0	0
TRAPPC6A	79090	broad.mit.edu	37	19	45668147	45668147	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:45668147G>A	uc002paw.3	-	2	253	c.234C>T	c.(232-234)ttC>ttT	p.F78F	TRAPPC6A_uc002pav.3_Silent_p.F92F			O75865	TPC6A_HUMAN	Homo sapiens trafficking protein particle complex 6A (TRAPPC6A), mRNA.	78					vesicle-mediated transport	Golgi apparatus|endoplasmic reticulum	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		TCTGCTTCTGGAACACCGCCA	0.637000														81			13		0	0	0.00244969	0	0
COL12A1	1303	broad.mit.edu	37	6	75836118	75836118	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:75836118C>A	uc021zbv.1	-	37	6444	c.6409G>T	c.(6409-6411)Gat>Tat	p.D2137Y	COL12A1_uc021zbw.1_Missense_Mutation_p.D973Y|COL12A1_uc003phs.3_Missense_Mutation_p.D2137Y|COL12A1_uc003pht.3_Missense_Mutation_p.D973Y	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2137	Fibronectin type-III 17.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.W2136C(1)		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						GGTGAAGGATCCCAGGACACC	0.423000														42			14		3.27435e-08	1.06174e-07	0.00244969	1	0
SHC3	53358	broad.mit.edu	37	9	91667064	91667064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:91667064C>T	uc004aqf.2	-	6	1157	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	284	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TCACAGCATTCCAAAATGTGA	0.517000														24			10		0	0	0.000673444	0	0
SPTLC2	9517	broad.mit.edu	37	14	78063656	78063656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:78063656G>A	uc001xub.3	-	1	388	c.200C>T	c.(199-201)cCa>cTa	p.P67L		NM_004863	NP_004854	O15270	SPTC2_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), mRNA.	67						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AACCAGCATTGGTGTTTCTTC	0.383000														39			6		0	0	0.00198382	0	0
SLC38A4	55089	broad.mit.edu	37	12	47170741	47170741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:47170741C>T	uc001rpi.2	-	12	1519	c.1120G>A	c.(1120-1122)Ggg>Agg	p.G374R	SLC38A4_uc001rpj.2_Missense_Mutation_p.G374R	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	374					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ACAAGCATCCCCGTGATGGAA	0.403000														76			20		0	0	0.00188189	0	0
ERC2	26059	broad.mit.edu	37	3	56468689	56468689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:56468689G>A	uc021wzo.1	-	0	487	c.347C>T	c.(346-348)tCa>tTa	p.S116L	ERC2_uc003dhr.1_Missense_Mutation_p.S116L	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	116						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATCTGTGTATGAAAGGACATC	0.512000														121			29		0	0	0.00127121	0	0
LRRC48	83450	broad.mit.edu	37	17	17896150	17896150	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:17896150G>A	uc021trj.1	+	6	895	c.516G>A	c.(514-516)gaG>gaA	p.E172E	LRRC48_uc010vxe.2_Silent_p.E172E|LRRC48_uc021tri.1_Silent_p.E172E|LRRC48_uc021trk.1_Silent_p.E172E	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN	Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.	172	LRRCT.					cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CTGAGGCAGAGGATTACAAGA	0.542000														19			10		0	0	0.000673444	0	0
OR8D1	283159	broad.mit.edu	37	11	124179743	124179743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:124179743C>T	uc010sag.2	-	0	920	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GACTCATTTTCCTACTAAGAC	0.368000														43			8		0	0	0.00307968	0	0
MET	4233	broad.mit.edu	37	7	116381018	116381018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:116381018G>A	uc003vij.3	+	4	1827	c.1640G>A	c.(1639-1641)cGa>cAa	p.R547Q	MET_uc022akk.1_Missense_Mutation_p.R547Q|MET_uc010lkh.3_Missense_Mutation_p.R547Q|MET_uc011knc.1_Missense_Mutation_p.R547Q|MET_uc011knd.2_Missense_Mutation_p.R547Q|MET_uc011knf.2_Missense_Mutation_p.R547Q|MET_uc011kne.2_Missense_Mutation_p.R519Q|MET_uc011kng.1_Missense_Mutation_p.R547Q|MET_uc011knh.1_Missense_Mutation_p.R547Q|MET_uc011kni.2_Missense_Mutation_p.R547Q|MET_uc011knj.2_Missense_Mutation_p.R117Q|MET_uc011knb.1_Missense_Mutation_p.R547Q	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	547					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAATGTGTGCGATCGGAGGAA	0.512000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					87			42		0	0	0.00321405	0	0
PTPRB	5787	broad.mit.edu	37	12	70980858	70980858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:70980858C>T	uc001swb.4	-	6	1616	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	PTPRB_uc010sto.2_Missense_Mutation_p.R529Q|PTPRB_uc010stp.2_Missense_Mutation_p.R439Q|PTPRB_uc001swc.4_Missense_Mutation_p.R747Q|PTPRB_uc001swa.4_Missense_Mutation_p.R747Q|PTPRB_uc001swd.4_Missense_Mutation_p.R746Q|PTPRB_uc009zrr.2_Missense_Mutation_p.R626Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	529	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATGTATTTTCGTCCAGGCAC	0.373000														66			15		0	0	0.00316338	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86539182	86539182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:86539182C>T	uc011kha.2	-	15	2490	c.2305G>A	c.(2305-2307)Ggt>Agt	p.G769S	KIAA1324L_uc003uie.3_Missense_Mutation_p.G602S|KIAA1324L_uc011kgz.2_Missense_Mutation_p.G655S|KIAA1324L_uc003uif.2_Missense_Mutation_p.G521S	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	769						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GCTCGGAAACCCTTACTTTCA	0.373000														95			27		0	0	0.00127121	0	0
HPS3	84343	broad.mit.edu	37	3	148884866	148884866	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:148884866T>C	uc003ewu.1	+	14	2775	c.2635T>C	c.(2635-2637)Ttc>Ctc	p.F879L	CP_uc011bnr.2_Intron|HPS3_uc011bnq.1_Missense_Mutation_p.F714L|HPS3_uc003ewv.1_Non-coding_Transcript	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	879						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CATTATTCCGTTCTTGGAGCC	0.403000									Hermansky-Pudlak syndrome					172			10		0	0	0.000978159	0	0
POLE	5426	broad.mit.edu	37	12	133245501	133245501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:133245501G>A	uc001uks.1	-	16	1863	c.1819C>T	c.(1819-1821)Ctt>Ttt	p.L607F	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.L580F	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	607					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGGGAGGCAAGCTTGCTCTTA	0.552000								DNA polymerases (catalytic subunits)						27			11		0	0	0.00136819	0	0
MCCC1	56922	broad.mit.edu	37	3	182789020	182789020	+	Missense_Mutation	SNP	G	A	A	rs144512424	by1000genomes	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:182789020G>A	uc003fle.3	-	5	754	c.617C>T	c.(616-618)gCc>gTc	p.A206V	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Missense_Mutation_p.A89V|MCCC1_uc003flg.3_Missense_Mutation_p.A97V|MCCC1_uc011bqp.1_Missense_Mutation_p.A159V|MCCC1_uc011bqq.1_Missense_Mutation_p.A97V	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	206	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	p.A206A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ACCCCGGACGGCTTTAATCAT	0.453000														70			13		0	0	0.00136819	0	0
FBN3	84467	broad.mit.edu	37	19	8188693	8188693	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:8188693G>A	uc002mjf.3	-	21	2948	c.2931C>T	c.(2929-2931)ttC>ttT	p.F977F		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	977						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCAGACAGGAAGTCCCGGC	0.672000														25			5		0	0	0.00116845	0	0
FCRL6	343413	broad.mit.edu	37	1	159778843	159778843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:159778843C>T	uc001fud.4	+	3	454	c.412C>T	c.(412-414)Ccc>Tcc	p.P138S	FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Missense_Mutation_p.P145S|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.3_Missense_Mutation_p.P138S	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	138	Ig-like C2-type 2.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AAAGCTGCACCCCCTGAGGTC	0.617000														47			9		0	0	0.000673444	0	0
NOS1AP	9722	broad.mit.edu	37	1	162270496	162270496	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:162270496G>A	uc001gbv.2	+	4	731	c.344_splice	c.e4+1	p.R115_splice	NOS1AP_uc010pkr.1_Splice_Site_p.R110_splice|NOS1AP_uc001gbw.2_Splice_Site_p.R110_splice|NOS1AP_uc010pks.1_Splice_Site	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	115	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCCATCTACAGGTAAGAGCCC	0.498000														46			12		0	0	0.000978159	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307607	46307607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:46307607G>A	uc002pdm.3	-	2	1727	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F	RSPH6A_uc002pdl.3_Missense_Mutation_p.S255F	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	519	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CTCCTCGTAGGAGTCGCGCCC	0.657000														36			7		0	0	0.00307968	0	0
STEAP3	55240	broad.mit.edu	37	2	120020656	120020656	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:120020656C>T	uc002tlp.3	+	5	1366	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	STEAP3_uc002tlq.3_Silent_p.L413L|STEAP3_uc002tlr.3_Silent_p.L403L|STEAP3_uc010fle.3_3'UTR	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	403	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TTGTGGCCCTCGTGCTGAGCA	0.607000														102			23		0	0	0.00395357	0	0
CYP4A11	1579	broad.mit.edu	37	1	47407007	47407007	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:47407007C>T	uc001cqp.4	-	0	150	c.99G>A	c.(97-99)aaG>aaA	p.K33K	CYP4A11_uc001cqq.2_Silent_p.K33K|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	33					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCTGAACTGCCTTGATCAGCA	0.602000														75			17		0	0	0.00400662	0	0
NPHP1	4867	broad.mit.edu	37	2	110881626	110881626	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:110881626G>A	uc002tfn.4	-	19	2035	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	NPHP1_uc002tfm.4_Silent_p.F592F|NPHP1_uc002tfl.4_Silent_p.F648F|NPHP1_uc002tfo.4_Silent_p.F529F|NPHP1_uc010ywx.2_Silent_p.F591F	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	647					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TGGACTTCAGGAACTCTTTGT	0.448000														76			9		0	0	0.000978159	0	0
POLD1	5424	broad.mit.edu	37	19	50905494	50905494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:50905494C>T	uc010eny.3	+	4	623	c.622C>T	c.(622-624)Ccg>Tcg	p.P208S	POLD1_uc002psb.4_Missense_Mutation_p.P208S|POLD1_uc002psc.4_Missense_Mutation_p.P208S|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	208					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGGCCCCTCCCCGTTCCTGCG	0.701000								DNA polymerases (catalytic subunits)						53			5		0	0	0.000602214	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44797515	44797515	+	Silent	SNP	C	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:44797515C>G	uc003tlr.3	+	5	744	c.621C>G	c.(619-621)ccC>ccG	p.P207P	ZMIZ2_uc003tlq.3_Silent_p.P175P|ZMIZ2_uc003tls.3_Silent_p.P207P|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	207	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAGTGTCCCCGCTGGCATGA	0.587000														68			13		0	0	0.00185496	0	0
RDH8	50700	broad.mit.edu	37	19	10127775	10127775	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:10127775A>C	uc002mmr.3	+	1	395	c.146A>C	c.(145-147)gAg>gCg	p.E49A		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	49					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GAGACACTGGAGGCAGCTGCT	0.637000														23			5		0	0	0.00116845	0	0
CDH4	1002	broad.mit.edu	37	20	60498508	60498508	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:60498508G>A	uc002ybn.2	+	10	1463	c.1375_splice	c.e10-1	p.A459_splice	CDH4_uc002ybr.2_Splice_Site_p.A422_splice|CDH4_uc002ybp.2_Splice_Site_p.A385_splice	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	459	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGTTGTTCCAGGCAGTCGACT	0.617000														52			7		0	0	0.000442599	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1147431	1147431	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:1147431C>T	uc001adf.3	-	3	1135	c.537G>A	c.(535-537)caG>caA	p.Q179Q	TNFRSF4_uc001ade.3_Silent_p.Q175Q			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	175					T cell proliferation|immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCTCCTGGGGCTGCGTGGCTG	0.687000														45			11		0	0	0.000978159	0	0
RBM25	58517	broad.mit.edu	37	14	73538437	73538437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:73538437C>T	uc010ttu.2	+	2	364	c.88C>T	c.(88-90)Cct>Tct	p.P30S	RBM25_uc001xnn.4_Missense_Mutation_p.P30S|RBM25_uc001xno.3_Missense_Mutation_p.P30S|RBM25_uc001xnp.3_5'UTR	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	30					RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TCCAGGATTTCCTCCACCTGT	0.448000														54			6		0	0	0.00198382	0	0
A2ML1	144568	broad.mit.edu	37	12	9020829	9020829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:9020829G>A	uc001quz.4	+	30	4035	c.3937G>A	c.(3937-3939)Gtg>Atg	p.V1313M	A2ML1_uc001qva.1_Missense_Mutation_p.V893M|A2ML1_uc010sgm.2_Missense_Mutation_p.V813M|A2ML1_uc001qvb.1_Non-coding_Transcript	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	1157						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						CTACCAGACGGTGTTGAGATA	0.388000														103			23		0	0	0.00465635	0	0
GPR111	222611	broad.mit.edu	37	6	47649017	47649017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:47649017C>T	uc010jzj.1	+	5	723	c.722C>T	c.(721-723)gCc>gTc	p.A241V	GPR111_uc003oyy.3_Missense_Mutation_p.A173V	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	241					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGCACCATAGCCAACCACATT	0.438000														59			12		0	0	0.000978159	0	0
TWSG1	57045	broad.mit.edu	37	18	9396361	9396361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:9396361C>T	uc002knz.3	+	3	498	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	TWSG1_uc002koa.3_Missense_Mutation_p.L28F	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN	Homo sapiens twisted gastrulation homolog 1 (Drosophila) (TWSG1), mRNA.	103								p.L103I(2)|p.I100fs*10(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						GATCCCTTCTCTCTTCCGGGC	0.448000														55			9		0	0	0.00136819	0	0
ITGB4	3691	broad.mit.edu	37	17	73720797	73720797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:73720797G>A	uc002jpg.3	+	1	201	c.14G>A	c.(13-15)cGc>cAc	p.R5H	ITGB4_uc002jph.3_Missense_Mutation_p.R5H|ITGB4_uc010dgo.3_Missense_Mutation_p.R5H|ITGB4_uc002jpi.4_Missense_Mutation_p.R5H|ITGB4_uc010dgp.1_Missense_Mutation_p.R5H|ITGB4_uc002jpj.3_Missense_Mutation_p.R5H	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	5					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGGGCCACGCCCCAGCCCA	0.642000														47			16		0	0	0.000958276	0	0
HHIP	64399	broad.mit.edu	37	4	145629453	145629453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:145629453G>A	uc003ijs.2	+	6	1971	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	431						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TGGGCTCCACGATCCAGGCAG	0.517000														44			8		0	0	0.000442599	0	0
USP29	57663	broad.mit.edu	37	19	57640963	57640963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:57640963C>T	uc002qny.3	+	3	1276	c.920C>T	c.(919-921)cCa>cTa	p.P307L	USP29_uc021vci.1_Missense_Mutation_p.P307L	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	307					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)		TTTGCAATTCCATCTTTTGCT	0.438000														70			14		0	0	0.00316338	0	0
FRMPD2	143162	broad.mit.edu	37	10	49392647	49392647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:49392647G>A	uc001jgi.3	-	19	2877	c.2546C>T	c.(2545-2547)tCc>tTc	p.S849F	FRMPD2_uc001jgh.3_Missense_Mutation_p.S817F|FRMPD2_uc001jgj.3_Missense_Mutation_p.S818F	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	849	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GTTGTCAGGGGAATTCTGGAT	0.408000														59			12		0	0	0.00136819	0	0
LOC399753	399753	broad.mit.edu	37	10	49218498	49218498	+	Silent	SNP	A	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:49218498A>G	uc001jgd.3	-	7	1800	c.1641T>C	c.(1639-1641)tcT>tcC	p.S547S	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		GCTGGCCCAGAGACAGCTCAG	0.582000														80			5		0	0	0.000442599	0	0
DSG4	147409	broad.mit.edu	37	18	28983456	28983456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:28983456C>T	uc002kwr.2	+	10	1630	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S	DSG4_uc002kwq.2_Missense_Mutation_p.P499S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	499					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAACATTTTTCCTGAAAGAAG	0.393000														22			11		0	0	0.000673444	0	0
PPAP2B	8613	broad.mit.edu	37	1	57002716	57002716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:57002716C>T	uc001cyj.2	-	1	776	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	70					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATGCTCTCATCATTGCAGTAA	0.527000														78			20		0	0	0.00121646	0	0
TCRVA15	0	broad.mit.edu	37	14	22217922	22217922	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:22217922A>T	uc010aiq.1	+	1	352	c.273A>T	c.(271-273)aaA>aaT	p.K91N	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Missense_Mutation_p.K87N					Homo sapiens mRNA for T cell receptor alpha variable 5, partial cds, clone: SEB 96.																		AAAAGGATAAACATCTGTCTC	0.438000														61			17		0	0	0.00121646	0	0
FBLN1	2192	broad.mit.edu	37	22	45996279	45996279	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr22:45996279C>T	uc003bgj.1	+	16	2212	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*	FBLN1_uc003bgk.1_Non-coding_Transcript	NM_006486	NP_006477	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.	689					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGTCTCCCACCGAAATGTTGT	0.607000														186			35		0	0	0.000953801	0	0
MUC16	94025	broad.mit.edu	37	19	9012794	9012794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:9012794C>T	uc002mkp.3	-	33	38854	c.38650G>A	c.(38650-38652)Gag>Aag	p.E12884K	MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12886	SEA 6.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACCCGCTCCGTGGTGTTG	0.587000														55			20		0	0	0.00152264	0	0
MDFI	4188	broad.mit.edu	37	6	41613959	41613959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:41613959G>A	uc003oqq.4	+	2	379	c.172G>A	c.(172-174)Gca>Aca	p.A58T	MDFI_uc010jxn.3_Missense_Mutation_p.A58T	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	58					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GGAGGAGGCGGCAACCCCCAT	0.647000														32			9		0	0	0.00448238	0	0
PAX1	5075	broad.mit.edu	37	20	21687451	21687451	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:21687451T>G	uc002wsj.2	+	1	716	c.662T>G	c.(661-663)cTg>cGg	p.L221R	PAX1_uc010zsl.2_Missense_Mutation_p.L221R|PAX1_uc010zsm.2_Missense_Mutation_p.L197R	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	221	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGCCGCATCCTGCGCAACAAG	0.632000														39			6		0	0	0.00307968	0	0
RALGDS	5900	broad.mit.edu	37	9	136030674	136030674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:136030674G>A	uc011mcw.2	-	5	568	c.287C>T	c.(286-288)aCc>aTc	p.T96I	RALGDS_uc010nab.3_Missense_Mutation_p.T96I|RALGDS_uc011mcx.2_Missense_Mutation_p.P67S|RALGDS_uc004ccw.3_Missense_Mutation_p.P84S|RALGDS_uc010nac.1_5'UTR|RALGDS_uc004ccy.1_Missense_Mutation_p.P84S	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 2, mRNA.	0					Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCCAACCAGGGTGTGAGTGTC	0.617000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									15			4		0	0	0.00024832	0	0
C9	735	broad.mit.edu	37	5	39311479	39311479	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:39311479C>T	uc003jlv.4	-	7	960	c.871_splice	c.e7-1	p.E291_splice		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	291	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AACATTTTTTCCTGTGTTGTA	0.328000														47			19		0	0	0.00121646	0	0
ITGA4	3676	broad.mit.edu	37	2	182360613	182360613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:182360613G>A	uc002unu.3	+	13	2252	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	497					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGTGTGCATAGATCTAACACT	0.408000														90			15		0	0	0.00244969	0	0
COL6A6	131873	broad.mit.edu	37	3	130289734	130289734	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:130289734A>G	uc010htl.3	+	5	2505	c.2474A>G	c.(2473-2475)tAt>tGt	p.Y825C		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	825	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TATGATGAGTATAATATCATG	0.413000														48			19		0	0	0.000958276	0	0
HBG1	3047	broad.mit.edu	37	11	5275627	5275627	+	Silent	SNP	A	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:5275627A>T	uc001mai.1	-	1	647	c.210T>A	c.(208-210)acT>acA	p.T70T	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Silent_p.T70T	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	70					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCAAGGAAGTCAGCACCT	0.532000														185			18		0	0	0.00121646	0	0
FNDC1	84624	broad.mit.edu	37	6	159642639	159642639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:159642639C>T	uc010kjv.3	+	5	877	c.677C>T	c.(676-678)tCc>tTc	p.S226F	FNDC1_uc010kjw.1_Missense_Mutation_p.S174F	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	226	Fibronectin type-III 2.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCTCGGAATCCGTGTATGTG	0.547000														39			7		0	0	0.00198382	0	0
SRRD	402055	broad.mit.edu	37	22	26887513	26887513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr22:26887513C>T	uc010gve.3	+	6	902	c.895C>T	c.(895-897)Cct>Tct	p.P299S	SRRD_uc003acp.4_Missense_Mutation_p.P292S	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	Homo sapiens SRR1 domain containing (SRRD), mRNA.	299					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCACTGGTTCCCTGTGCAAAA	0.418000														82			19		0	0	0.00074312	0	0
SPEF2	79925	broad.mit.edu	37	5	35628639	35628639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:35628639G>A	uc003jjo.3	+	1	247	c.136G>A	c.(136-138)Gat>Aat	p.D46N	SPEF2_uc003jjn.1_Missense_Mutation_p.D46N|SPEF2_uc003jjq.4_Missense_Mutation_p.D46N	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	46	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.D45G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTTCAGGATGATTTTTCAGA	0.358000														53			21		0	0	0.00188189	0	0
GNL2	29889	broad.mit.edu	37	1	38034558	38034558	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:38034558T>C	uc001cbk.3	-	12	1925	c.1762A>G	c.(1762-1764)Aat>Gat	p.N588D		NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	588					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TTTCCCACATTTTCCTCCTCA	0.448000														155			35		0	0	0.00428921	0	0
NSUN7	79730	broad.mit.edu	37	4	40778237	40778237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:40778237C>T	uc003gvj.4	+	6	1492	c.997C>T	c.(997-999)Cct>Tct	p.P333S	NSUN7_uc003gvi.4_Missense_Mutation_p.P333S	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGCTAAGGATCCTGACTTGAA	0.318000														95			18		0	0	0.00152264	0	0
TLR3	7098	broad.mit.edu	37	4	187004730	187004730	+	Silent	SNP	C	T	T	rs145921610	byFrequency	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:187004730C>T	uc003iyq.3	+	3	1991	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	TLR3_uc011ckz.2_Silent_p.F353F|TLR3_uc003iyr.3_Silent_p.F353F	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	630					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGAAGGTTTTCGGGCCAGCTT	0.393000														74			18		0	0	0.000566183	0	0
DSCAM	1826	broad.mit.edu	37	21	41496187	41496187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:41496187G>A	uc002yyq.1	-	19	4083	c.3631C>T	c.(3631-3633)Ccc>Tcc	p.P1211S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1211	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGAGAGGGGGAAGCCAGGAC	0.552000														104			47		0	0	0.00285205	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060434	144060435	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:144060434_144060435CC>AA	uc003wel.3	+	1	790_791	c.672_673CC>AA	c.(670-675)ccccag>ccAAag	p.Q225K	ARHGEF5_uc003wek.3_Missense_Mutation_p.Q225K	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	225					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TCTTGCATCCCCAGGAGGTCCA	0.569000														524			12		0	0	6.4e-05	0	0
GRM6	2916	broad.mit.edu	37	5	178409990	178409990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:178409990C>T	uc003mjr.3	-	8	2536	c.2357G>A	c.(2356-2358)gGc>gAc	p.G786D	GRM6_uc003mjq.3_Missense_Mutation_p.G189D	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	786					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CATGGTGAAGCCGATGGGCTT	0.597000														59			7		0	0	0.00198382	0	0
OR10J1	26476	broad.mit.edu	37	1	159410488	159410488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:159410488G>A	uc010piv.2	+	0	977	c.940G>A	c.(940-942)Gct>Act	p.A314T	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	314					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCTGTGCAGGGCTGTTGGTGG	0.483000														70			22		0	0	0.00332997	0	0
ATP8B3	148229	broad.mit.edu	37	19	1796232	1796232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:1796232C>T	uc002ltw.3	-	16	2020	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	ATP8B3_uc002ltv.3_Missense_Mutation_p.E549K|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	596					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCCCCCTCGTCGGGGGAG	0.662000											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			4		0	0	0.00024832	0	0
HN1L	90861	broad.mit.edu	37	16	1735481	1735481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr16:1735481G>A	uc010uvi.2	+	2	206	c.170G>A	c.(169-171)gGa>gAa	p.G57E	CRAMP1L_uc002cmf.3_Non-coding_Transcript|HN1L_uc002cmg.3_Missense_Mutation_p.G29E|HN1L_uc010brt.3_Intron|HN1L_uc010bru.3_Missense_Mutation_p.G29E|HN1L_uc010uvj.2_Missense_Mutation_p.G57E|HN1L_uc010uvk.2_Missense_Mutation_p.G16E	NM_144570	NP_653171	Q9H910	HN1L_HUMAN	Homo sapiens hematological and neurological expressed 1-like (HN1L), mRNA.	29						cytoplasm|nucleus				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						AATCTTTTTGGAAGTCCAGAA	0.468000														42			24		0	0	0.00278032	0	0
DIDO1	11083	broad.mit.edu	37	20	61512000	61512000	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:61512000T>C	uc002ydr.2	-	15	5620	c.5308A>G	c.(5308-5310)Aat>Gat	p.N1770D	DIDO1_uc002yds.2_Missense_Mutation_p.N1770D	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1770	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCCGGGAAATTGGGGCCGTGA	0.637000														83			11		0	0	0.000673444	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101955	69101955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:69101955G>A	uc003hdw.4	-	2	290	c.154C>T	c.(154-156)Cat>Tat	p.H52Y		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	52	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CCAGAAATATGAAAATCACCT	0.318000														32			5		0	0	0.00116845	0	0
CSF2	1437	broad.mit.edu	37	5	131410554	131410554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:131410554G>A	uc003kwf.3	+	2	285	c.253G>A	c.(253-255)Ggc>Agc	p.G85S		NM_000758	NP_000749	P04141	CSF2_HUMAN	Homo sapiens colony stimulating factor 2 (granulocyte-macrophage) (CSF2), mRNA.	85					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	GGGCCTGCGGGGCAGCCTCAC	0.642000														47			22		0	0	0.00229938	0	0
BRAF	673	broad.mit.edu	37	7	140453145	140453145	+	Missense_Mutation	SNP	A	T	T	rs121913368		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:140453145A>T	uc003vwc.4	-	14	1851	c.1790T>A	c.(1789-1791)cTa>cAa	p.L597Q		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	597	Protein kinase.		L -> R (in LNCR; also found in an ovarian serous carcinoma sample; somatic mutation).|L -> V (in NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).		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.L597R(30)|p.L597S(22)|p.L597Q(21)|p.L597V(13)|p.G596R(6)|p.L597L(3)|p.G596D(2)|p.L597_A598insT(2)|p.G596fs*2(1)|p.D594_T599del(1)|p.G596S(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)	CACTGTAGCTAGACCAAAATC	0.383000		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					56			32		0	0	0.00128727	0	0
P2RY14	9934	broad.mit.edu	37	3	150931647	150931647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:150931647G>A	uc003eyr.1	-	2	936	c.458C>T	c.(457-459)gCt>gTt	p.A153V	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.A153V|P2RY14_uc021xfz.1_Missense_Mutation_p.A153V	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	153						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTTGGAACAGCAAGGAGGAG	0.393000														49			18		0	0	0.00121646	0	0
HCN3	57657	broad.mit.edu	37	1	155253895	155253895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:155253895C>T	uc001fjz.1	+	2	847	c.839C>T	c.(838-840)cCc>cTc	p.P280L	HCN3_uc010pfz.1_Silent_p.S19S	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	280						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	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)			GACTTCCCTCCCGACTGCTGG	0.572000														52			9		0	0	0.000442599	0	0
ZEB1	6935	broad.mit.edu	37	10	31810669	31810669	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:31810669C>T	uc001ivs.4	+	6	2469	c.2406C>T	c.(2404-2406)atC>atT	p.I802I	ZEB1_uc001ivr.4_Silent_p.I584I|ZEB1_uc010qef.2_Silent_p.I584I|ZEB1_uc009xlj.1_Silent_p.I728I|ZEB1_uc010qeg.1_Silent_p.I661I|ZEB1_uc009xlk.1_Silent_p.I584I|ZEB1_uc001ivu.4_Silent_p.I803I|ZEB1_uc010qeh.2_Silent_p.I735I|ZEB1_uc001ivv.4_Silent_p.I782I|ZEB1_uc001ivt.4_Silent_p.I584I|ZEB1_uc009xlo.2_Silent_p.I785I|ZEB1_uc009xlp.3_Silent_p.I786I	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	802					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CCATAAATATCGCTATACCTA	0.463000														43			10		0	0	0.000442599	0	0
CD163L1	283316	broad.mit.edu	37	12	7556307	7556307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:7556307C>T	uc010sge.2	-	5	1288	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E	CD163L1_uc001qsy.3_Missense_Mutation_p.G411E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	411	SRCR 4.					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						GAACGGACATCCTAGCTGCTT	0.453000														118			19		0	0	0.00121646	0	0
FAT4	79633	broad.mit.edu	37	4	126411438	126411438	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:126411438T>A	uc003ifj.4	+	16	13461	c.13461T>A	c.(13459-13461)caT>caA	p.H4487Q	FAT4_uc011cgp.2_Missense_Mutation_p.H2728Q|FAT4_uc003ifi.1_Missense_Mutation_p.H1964Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4487					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P4486P(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGCGGGGCATGTCTGTGTTC	0.617000														65			8		0	0	0.00448238	0	0
MKRN3	7681	broad.mit.edu	37	15	23811728	23811728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:23811728G>A	uc001ywh.4	+	0	1275	c.799G>A	c.(799-801)Gac>Aac	p.D267N	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.D267N	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	267	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.C266C(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGACATATGCGACATGTGTGG	0.532000														52			8		0	0	0.00448238	0	0
BCS1L	617	broad.mit.edu	37	2	219525750	219525750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:219525750C>T	uc002vip.3	+	2	386	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	ZNF142_uc002vin.3_5'Flank|ZNF142_uc010fvt.3_5'Flank|ZNF142_uc002vim.3_5'Flank|BCS1L_uc002viq.3_Missense_Mutation_p.P14S|BCS1L_uc010fvu.3_Missense_Mutation_p.P14S|BCS1L_uc010fvv.3_Missense_Mutation_p.P14S|BCS1L_uc002vis.3_Missense_Mutation_p.P14S|BCS1L_uc021vwz.1_Missense_Mutation_p.P14S	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	14					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGGACAATCCCTACTTTGG	0.577000														93			20		0	0	0.00229938	0	0
SCN4A	6329	broad.mit.edu	37	17	62018367	62018367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:62018367C>T	uc002jds.1	-	23	5352	c.5275G>A	c.(5275-5277)Gac>Aac	p.D1759N		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1759					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCGCTGCCGTCGTGGCTGTGG	0.627000														60			16		0	0	0.00074312	0	0
ELTD1	64123	broad.mit.edu	37	1	79383561	79383561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:79383561C>T	uc001diq.4	-	10	1792	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	546					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCCGAAAATCCAACTACCACG	0.373000														146			35		0	0	0.00283554	0	0
CD86	942	broad.mit.edu	37	3	121825261	121825261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:121825261C>T	uc003eet.3	+	3	745	c.617C>T	c.(616-618)tCa>tTa	p.S206L	CD86_uc011bjo.2_Missense_Mutation_p.S124L|CD86_uc011bjp.2_Missense_Mutation_p.S94L|CD86_uc003eeu.3_Missense_Mutation_p.S200L|CD86_uc021xcz.1_Missense_Mutation_p.S200L	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	206	Ig-like C2-type.				T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTGTCTGTTTCATTCCCTGAT	0.393000														126			23		0	0	0.00332997	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853749	51853749	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:51853749C>T	uc001rys.1	+	7	1048	c.870C>T	c.(868-870)ttC>ttT	p.F290F	SLC4A8_uc010sni.2_Silent_p.F237F|SLC4A8_uc001rym.3_Silent_p.F237F|SLC4A8_uc001ryn.3_Silent_p.F237F|SLC4A8_uc001ryo.2_Silent_p.F237F|SLC4A8_uc001ryp.1_Silent_p.F237F|SLC4A8_uc010snj.2_Silent_p.F317F|SLC4A8_uc001ryq.4_Silent_p.F290F|SLC4A8_uc001ryr.3_Silent_p.F290F|SLC4A8_uc010snk.2_Silent_p.F237F	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	290					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.F290F(3)|p.F237F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ACCTTCATTTCATGAAAAAAA	0.408000														147			41		0	0	0.00170553	0	0
OR5D18	219438	broad.mit.edu	37	11	55587919	55587919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:55587919G>A	uc010rin.2	+	0	814	c.814G>A	c.(814-816)Gtc>Atc	p.V272I		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T271K(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CAGGCACACAGTCAAAGTGGC	0.498000														53			9		0	0	0.000442599	0	0
C20orf132	140699	broad.mit.edu	37	20	35748963	35748963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:35748963G>A	uc010zvu.2	-	17	2264	c.2173C>T	c.(2173-2175)Ctt>Ttt	p.L725F	C20orf132_uc002xgk.3_Missense_Mutation_p.L357F	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	294										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				CGGTTAAGAAGAGGGACTAAT	0.428000														30			11		0	0	0.00136819	0	0
C8B	732	broad.mit.edu	37	1	57411525	57411525	+	Silent	SNP	G	A	A	rs149848224	byFrequency	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:57411525G>A	uc001cyp.3	-	6	1141	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	C8B_uc010oon.2_Silent_p.L296L|C8B_uc010ooo.2_Silent_p.L306L	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	358	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTTCATAACGAGGGTGTATT	0.488000														76			17		0	0	0.000566183	0	0
TCR-alpha	0	broad.mit.edu	37	14	22434231	22434231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:22434231C>T	uc021rpm.1	+	1	322	c.284C>T	c.(283-285)tCc>tTc	p.S95F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		AAGTATATCTCCTTGTTCATC	0.488000														124			29		0	0	0.00178596	0	0
OR10H4	126541	broad.mit.edu	37	19	16059877	16059877	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:16059877C>T	uc010xov.2	+	0	60	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCTCAGCCTTCCCCCAGCACC	0.458000														128			42		0	0	0.00361006	0	0
PRKD1	5587	broad.mit.edu	37	14	30068894	30068894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:30068894G>A	uc001wqh.3	-	13	2216	c.2035C>T	c.(2035-2037)Cca>Tca	p.P679S	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	679	Protein kinase.		P -> L (in dbSNP:rs34588699).		cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATGTGCTCTGGCAACCTGCCC	0.353000														92			15		0	0	0.000566183	0	0
SGCZ	137868	broad.mit.edu	37	8	13959909	13959909	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:13959909G>A	uc003wwq.3	-	6	1380	c.720C>T	c.(718-720)ctC>ctT	p.L240L	SGCZ_uc010lss.3_Silent_p.L193L	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	227					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ATTGCAGATGGAGCTCCTTCC	0.517000														66			12		0	0	0.00136819	0	0
DDX43	55510	broad.mit.edu	37	6	74104798	74104798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:74104798C>T	uc003pgw.3	+	0	514	c.170C>T	c.(169-171)cCc>cTc	p.P57L	OOEP_uc003pgv.4_5'UTR|DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	57						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ACCTCTAGGCCCCCGGAGGCC	0.622000											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		36			11		0	0	0.000673444	0	0
ASZ1	136991	broad.mit.edu	37	7	117060298	117060298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:117060298G>A	uc003vjb.2	-	3	422	c.359C>T	c.(358-360)tCt>tTt	p.S120F	ASZ1_uc011kno.1_Missense_Mutation_p.S120F|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	120					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GCCATGAGCAGAACATGCAGT	0.373000														93			19		0	0	0.00121646	0	0
LILRA1	11024	broad.mit.edu	37	19	55106668	55106668	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:55106668C>T	uc002qgh.1	+	4	644	c.462C>T	c.(460-462)ttC>ttT	p.F154F	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.F154F	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	154	Ig-like C2-type 2.				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)		TTGGCAGCTTCATTCTGTGTA	0.572000														79			23		0	0	0.00229938	0	0
USP6NL	9712	broad.mit.edu	37	10	11505081	11505081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:11505081G>A	uc001iks.1	-	13	1940	c.1897C>T	c.(1897-1899)Ccg>Tcg	p.P633S	USP6NL_uc001ikt.3_Missense_Mutation_p.P616S	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	616						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AGCTGGGACGGATATCGTGCA	0.527000														44			6		0	0	0.00116845	0	0
DSEL	92126	broad.mit.edu	37	18	65179020	65179020	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:65179020G>A	uc002lke.1	-	1	4080	c.2856C>T	c.(2854-2856)ccC>ccT	p.P952P	DSEL_uc021ulg.1_Silent_p.P952P	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	942						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TACCCCTATTGGGTTCATGCA	0.393000														65			9		0	0	0.000978159	0	0
C3	718	broad.mit.edu	37	19	6693001	6693001	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:6693001G>A	uc002mfm.3	-	25	3386	c.3324C>T	c.(3322-3324)atC>atT	p.I1108I		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1108					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCTTCTCCAGGATCAGCCATT	0.552000														91			34		0	0	0.00283554	0	0
ERBB4	2066	broad.mit.edu	37	2	212566814	212566814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:212566814C>T	uc002veg.1	-	11	1465	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E	ERBB4_uc002veh.1_Missense_Mutation_p.G456E|ERBB4_uc010zji.1_Missense_Mutation_p.G456E|ERBB4_uc010zjj.1_Missense_Mutation_p.G456E|ERBB4_uc010fut.1_Missense_Mutation_p.G456E	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	456					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATAGATGTTTCCTGCGCTGAT	0.453000										TSP Lung(8;0.080)				95			12		0	0	0.000978159	0	0
NPY5R	4889	broad.mit.edu	37	4	164272362	164272362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:164272362C>T	uc003iqn.3	+	3	1119	c.937C>T	c.(937-939)Cca>Tca	p.P313S	NPY5R_uc021xtw.1_Missense_Mutation_p.P313S	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	313					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.P313P(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CAGAATACTTCCAGAAAACTT	0.408000														43			12		0	0	0.000978159	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373960	86373960	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:86373960G>A	uc010sum.2	-	5	775	c.616C>T	c.(616-618)Cta>Tta	p.L206L	MGAT4C_uc001tal.4_Silent_p.L182L|MGAT4C_uc001taj.4_Silent_p.L182L|MGAT4C_uc001tak.4_Silent_p.L182L|MGAT4C_uc001tai.4_Silent_p.L182L|MGAT4C_uc001tah.4_Silent_p.L182L	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	182					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGGCCATCTAGGATTGGGTAA	0.373000														149			24		0	0	0.000878237	0	0
NKX6-1	4825	broad.mit.edu	37	4	85414693	85414693	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:85414693G>A	uc003hpa.1	-	2	859	c.853C>T	c.(853-855)Cag>Tag	p.Q285*		NM_006168	NP_006159	P78426	NKX61_HUMAN	Homo sapiens NK6 homeobox 1 (NKX6-1), mRNA.	285					detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		CGGCGGTTCTGGAACCAGACC	0.617000														44			10		0	0	0.000978159	0	0
MED12L	116931	broad.mit.edu	37	3	150840632	150840632	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:150840632G>A	uc003eyp.3	+	2	396	c.267G>A	c.(265-267)acG>acA	p.T89T	MED12L_uc011bnz.2_Silent_p.T89T|MED12L_uc003eym.1_Silent_p.T89T|MED12L_uc003eyn.3_Silent_p.T89T|MED12L_uc003eyo.3_Silent_p.T89T	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	89					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCAGGACACGGGAAAGAAGA	0.383000														20			4		0	0	0.00024832	0	0
TLR2	7097	broad.mit.edu	37	4	154625162	154625162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:154625162G>A	uc003inq.3	+	2	1322	c.1103G>A	c.(1102-1104)aGt>aAt	p.S368N	TLR2_uc003inr.3_Missense_Mutation_p.S368N|TLR2_uc003ins.3_Missense_Mutation_p.S368N|TLR2_uc021xtl.1_Missense_Mutation_p.S368N	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	368					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TTGGATCTCAGTGAAAATTTG	0.328000														33			11		0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179474943	179474943	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:179474943G>A	uc021vsy.1	-	219	43831	c.43606C>T	c.(43606-43608)Ctg>Ttg	p.L14536L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L8231L|TTN_uc021vta.1_Silent_p.L8164L|TTN_uc021vtb.1_Silent_p.L8039L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15463	Fibronectin type-III 5.						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)			GTCCATGACAGTTTGTTCTCA	0.423000														205			52		0	0	0.00361006	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851790	14851790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:14851790G>A	uc010dlo.2	+	35	3670	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	ANKRD30B_uc021uhy.1_Missense_Mutation_p.E1164K|ANKRD30B_uc010xal.1_Missense_Mutation_p.E306K	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1249										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAAATTGAAGGAAAAACAAGA	0.383000														5			6		0	0	0.00116845	0	0
MECOM	2122	broad.mit.edu	37	3	168845679	168845679	+	Silent	SNP	C	T	T	rs150481592		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:168845679C>T	uc011bpj.1	-	4	1186	c.783G>A	c.(781-783)acG>acA	p.T261T	MECOM_uc010hwk.1_Silent_p.T96T|MECOM_uc003ffj.3_Silent_p.T137T|MECOM_uc003ffi.3_Silent_p.T73T|MECOM_uc011bpi.1_Silent_p.T73T|MECOM_uc003ffn.3_Silent_p.T73T|MECOM_uc003ffk.2_Silent_p.T73T|MECOM_uc003ffl.2_Silent_p.T233T|MECOM_uc011bpk.1_Silent_p.T73T|MECOM_uc010hwn.2_Silent_p.T261T|MECOM_uc003ffm.1_Silent_p.T137T	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACTCCTGGATCGTGTGTATCT	0.388000														148			24		0	0	0.000878237	0	0
DNAH5	1767	broad.mit.edu	37	5	13735349	13735349	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:13735349G>A	uc003jfd.2	-	67	11694	c.11652C>T	c.(11650-11652)gcC>gcT	p.A3884A	DNAH5_uc003jfc.2_Silent_p.A52A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3884					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)					ACAGCCCTCGGGCAGCATACT	0.448000									Kartagener syndrome					47			23		0	0	0.00229938	0	0
BIRC6	57448	broad.mit.edu	37	2	32626358	32626358	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:32626358A>G	uc010ezu.3	+	6	1296	c.1162A>G	c.(1162-1164)Ata>Gta	p.I388V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	388					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AACTGACAGAATATCTTGCTT	0.463000														209			40		0	0	0.00195071	0	0
LOC399753	399753	broad.mit.edu	37	10	49218566	49218566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:49218566C>T	uc001jgd.3	-	7	1732	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		ATCCAGCGTTCCTTCTCTTCC	0.552000														41			22		0	0	0.00188189	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079793	34079793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:34079793G>A	uc002hjv.2	-	0	105	c.77C>T	c.(76-78)tCg>tTg	p.S26L		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	26					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCTCACTCGACTTGAAAGG	0.637000														38			11		0	0	0.000978159	0	0
HECTD2	143279	broad.mit.edu	37	10	93185065	93185065	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:93185065A>G	uc010qnm.1	+	1	266	c.166A>G	c.(166-168)Att>Gtt	p.I56V	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khk.2_Missense_Mutation_p.I56V|HECTD2_uc001khl.2_Missense_Mutation_p.I56V|HECTD2_uc001khm.2_Non-coding_Transcript	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	56					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CAAAGGCCAAATTTCCACTTT	0.368000														37			10		0	0	0.000978159	0	0
LRRCC1	85444	broad.mit.edu	37	8	86038926	86038926	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:86038926C>T	uc003ycw.3	+	8	1483	c.1275C>T	c.(1273-1275)tcC>tcT	p.S425S	LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Silent_p.S332S|LRRCC1_uc010maa.2_Silent_p.S126S|LRRCC1_uc003ycy.3_Silent_p.S405S	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	425					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCTTTCAGTCCCTTGTTGAAC	0.378000														24			6		0	0	0.00116845	0	0
AK128361	0	broad.mit.edu	37	19	52496214	52496214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:52496214C>T	uc021uys.1	-	0	237	c.236G>A	c.(235-237)aGa>aAa	p.R79K	ZNF615_uc002pyf.2_Silent_p.E716E|ZNF615_uc002pye.2_Silent_p.E705E|ZNF615_uc002pyh.2_Silent_p.E716E|ZNF615_uc010epi.2_Silent_p.E712E|ZNF615_uc002pyg.2_Silent_p.E597E|ZNF615_uc010ydg.2_Silent_p.E710E					Homo sapiens cDNA FLJ33710 fis, clone BRAWH2008058.																		CATAGGGCCTCTCTCCTGTAT	0.438000														115			39		0	0	0.00148497	0	0
TTN	7273	broad.mit.edu	37	2	179441775	179441775	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:179441775G>C	uc021vsy.1	-	272	61808	c.61583C>G	c.(61582-61584)tCt>tGt	p.S20528C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S14223C|TTN_uc021vta.1_Missense_Mutation_p.S14156C|TTN_uc021vtb.1_Missense_Mutation_p.S14031C|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21455	Fibronectin type-III 49.						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)			ATGCCTGCAAGACTGAATATC	0.453000														124			32		0	0	0.00209593	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599813	136599813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:136599813C>T	uc003qgx.1	-	3	459	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	BCLAF1_uc003qgy.1_Missense_Mutation_p.R67Q|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R67Q|BCLAF1_uc003qgw.1_Missense_Mutation_p.R69Q	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	69					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCCATAAGGTCGTCTCATTCC	0.433000														87			7		0	0	0.00307968	0	0
DPYD	1806	broad.mit.edu	37	1	97564144	97564144	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:97564144G>A	uc001drv.3	-	20	2804	c.2667C>T	c.(2665-2667)atC>atT	p.I889I		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	889					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.I889I(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTCTGCTATGATTTTCTTGC	0.373000														35			14		0	0	0.00244969	0	0
COL4A5	1287	broad.mit.edu	37	X	107829888	107829888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:107829888G>A	uc022ccg.1	+	18	1278	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	COL4A5_uc004enz.1_Missense_Mutation_p.G359E|COL4A5_uc004eob.1_5'UTR	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	359	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGAGAAAAAGGAAACATTGGG	0.423000									Alport syndrome with Diffuse Leiomyomatosis					91			23		0	0	0.00106085	0	0
GALNT14	79623	broad.mit.edu	37	2	31168651	31168652	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:31168651_31168652CC>TT	uc002rns.3	-	7	1394_1395	c.754_755GG>AA	c.(754-756)ggg>AAg	p.G252K	GALNT14_uc002rnq.3_Missense_Mutation_p.G227K|GALNT14_uc010ymr.2_Missense_Mutation_p.G212K|GALNT14_uc002rnr.3_Missense_Mutation_p.G247K|GALNT14_uc010ezo.2_Missense_Mutation_p.G214K|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	247						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CAACTCACCCCCTCTGAGCTCC	0.505000														34			8		0	0	6.4e-05	0	0
ZNF334	55713	broad.mit.edu	37	20	45131203	45131203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:45131203G>A	uc002xsa.3	-	3	1306	c.844C>T	c.(844-846)Cat>Tat	p.H282Y	ZNF334_uc002xsb.3_Missense_Mutation_p.H221Y|ZNF334_uc002xsd.3_Missense_Mutation_p.H221Y|ZNF334_uc002xsc.3_Missense_Mutation_p.H259Y|ZNF334_uc010ghl.3_Missense_Mutation_p.H258Y			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCCCCTGTATGAATTCTCTGA	0.403000														83			22		0	0	0.00188189	0	0
GPR98	84059	broad.mit.edu	37	5	90059211	90059211	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:90059211C>T	uc003kju.3	+	58	12306	c.12210C>T	c.(12208-12210)gtC>gtT	p.V4070V	GPR98_uc003kjt.3_Silent_p.V1776V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4070					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGGAACCGTCCGACTTGAGT	0.448000														33			6		0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179575439	179575439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:179575439C>T	uc021vsy.1	-	94	24878	c.24653G>A	c.(24652-24654)gGa>gAa	p.G8218E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4879E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9145	Ig-like 64.						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)			TCCAGAATCTCCTTTGTCTAC	0.438000														115			29		0	0	0.0024448	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43922289	43922289	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:43922289T>A	uc010yny.2	+	5	511	c.428T>A	c.(427-429)tTg>tAg	p.L143*	PLEKHH2_uc002rte.3_Nonsense_Mutation_p.L143*|PLEKHH2_uc002rtf.3_Nonsense_Mutation_p.L143*	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	143						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAGCTGGAATTGGAGAATCAG	0.259000														181			24		0	0	0.00332997	0	0
SPEF2	79925	broad.mit.edu	37	5	35814589	35814589	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:35814589G>A	uc003jjo.3	+	36	5514	c.5403G>A	c.(5401-5403)agG>agA	p.R1801R	SPEF2_uc003jjr.3_Silent_p.R856R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1801					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTCCAAAGGAGTGAACATG	0.294000														55			17		0	0	0.00400662	0	0
ACSL5	51703	broad.mit.edu	37	10	114173028	114173028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:114173028C>T	uc001kzu.3	+	11	1326	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L	ACSL5_uc001kzs.3_Missense_Mutation_p.P349L|ACSL5_uc001kzt.3_Missense_Mutation_p.P349L|ACSL5_uc009xxz.3_Missense_Mutation_p.P349L|ACSL5_uc010qrj.2_Missense_Mutation_p.P131L	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	349					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ACATTGTTTCCCGCGGTGCCT	0.507000														102			17		0	0	0.000566183	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20126755	20126755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr22:20126755C>T	uc002zrr.2	+	1	250	c.143C>T	c.(142-144)cCc>cTc	p.P48L	ZDHHC8_uc002zrq.3_Missense_Mutation_p.P48L|ZDHHC8_uc010gsa.3_5'Flank	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	48						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCAGCTGTTCCCGTCTACAAT	0.602000														61			17		0	0	0.00074312	0	0
GBP6	163351	broad.mit.edu	37	1	89843692	89843692	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:89843692G>T	uc001dnf.2	+	3	623	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S	GBP6_uc010ost.1_5'UTR	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	117							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CTGGATCTTTGCCCTGGCTGT	0.473000														170			32		1.32136e-16	4.30054e-16	0.00195071	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43922292	43922292	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:43922292A>G	uc010yny.2	+	5	514	c.431A>G	c.(430-432)gAg>gGg	p.E144G	PLEKHH2_uc002rte.3_Missense_Mutation_p.E144G|PLEKHH2_uc002rtf.3_Missense_Mutation_p.E144G	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	144						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGGAATTGGAGAATCAGAAT	0.259000														181			24		0	0	0.00395357	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578693	141578693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:141578693G>A	uc010ioj.3	-	11	2467	c.2195C>T	c.(2194-2196)aCc>aTc	p.T732I		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	732						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TCCCAAAACGGTCATGGCCTC	0.418000														185			40		0	0	0.00361006	0	0
SCN7A	6332	broad.mit.edu	37	2	167327137	167327137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:167327137G>A	uc002udu.2	-	5	782	c.652C>T	c.(652-654)Cct>Tct	p.P218S	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	218					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGATTTAAAGGAATAATTTTT	0.323000														26			9		0	0	0.000978159	0	0
OR6C3	254786	broad.mit.edu	37	12	55725560	55725560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:55725560C>T	uc010spj.2	+	0	76	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGTGATTTTTCTCTTTTTATT	0.413000														97			19		0	0	0.00121646	0	0
OR9G4	283189	broad.mit.edu	37	11	56510428	56510428	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:56510428T>G	uc010rjo.2	-	0	860	c.860A>C	c.(859-861)aAa>aCa	p.K287T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D286E(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGCAGCTACTTTGTCCCTCTC	0.463000														73			15		0	0	0.00400662	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33596537	33596537	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:33596537C>A	uc002xbk.3	-	12	1559	c.1525G>T	c.(1525-1527)Gat>Tat	p.D509Y	TRPC4AP_uc002xbj.3_5'Flank|TRPC4AP_uc010zuq.2_Missense_Mutation_p.D100Y|TRPC4AP_uc010zur.2_Missense_Mutation_p.D470Y|TRPC4AP_uc002xbl.3_Missense_Mutation_p.D501Y|TRPC4AP_uc002xbm.1_Missense_Mutation_p.D509Y	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	509					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTCTTCCCATCACACACCAAA	0.522000														77			23		2.70639e-06	8.75951e-06	0.00229938	1	0
ZDBF2	57683	broad.mit.edu	37	2	207175496	207175496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:207175496C>T	uc002vbp.2	+	4	6494	c.6244C>T	c.(6244-6246)Cat>Tat	p.H2082Y		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2082							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGTTAAAATTCATTTTAATAG	0.418000														34			8		0	0	0.00448238	0	0
NLRP10	338322	broad.mit.edu	37	11	7982819	7982819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:7982819C>T	uc001mfv.1	-	1	357	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	114							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTCCTGCTTCCTGCCATTCC	0.527000														77			10		0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179472548	179472548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:179472548C>T	uc021vsy.1	-	224	45487	c.45262G>A	c.(45262-45264)Gga>Aga	p.G15088R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G8783R|TTN_uc021vta.1_Missense_Mutation_p.G8716R|TTN_uc021vtb.1_Missense_Mutation_p.G8591R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16015	Fibronectin type-III 9.						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)			TGTGTTTCTCCAGGCGGTCCT	0.433000														70			18		0	0	0.00152264	0	0
POM121L12	285877	broad.mit.edu	37	7	53103501	53103501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:53103501C>T	uc003tpz.3	+	0	153	c.137C>T	c.(136-138)cCc>cTc	p.P46L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	46								p.P46T(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACGCCATCTCCCCAGGGTCGC	0.677000														55			6		0	0	0.00198382	0	0
SYT17	51760	broad.mit.edu	37	16	19195343	19195343	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr16:19195343C>T	uc002dfw.3	+	4	1156	c.825C>T	c.(823-825)ctC>ctT	p.L275L	SYT17_uc002dfx.3_Silent_p.L214L|SYT17_uc002dfy.3_Silent_p.L271L	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	275	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GGACCCTGCTCCTGACCGTGG	0.567000														102			26		0	0	0.00465635	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756564	94756564	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:94756564G>A	uc001yct.3	-	1	833	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	SERPINA10_uc001ycu.4_Nonsense_Mutation_p.Q123*	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	123					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTCTTGATCTGGGTTTCAGTC	0.592000														50			12		0	0	0.00185496	0	0
SAGE1	55511	broad.mit.edu	37	X	134991836	134991836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:134991836G>A	uc004ezh.3	+	13	1788	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	SAGE1_uc010nry.1_Missense_Mutation_p.E510K|SAGE1_uc011mvv.2_Missense_Mutation_p.E165K	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	541										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AGAGAGGATGGAAAATAACCA	0.418000														43			18		0	0	0.00121646	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987923	154987923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:154987923C>T	uc001fgj.4	+	4	1174	c.889C>T	c.(889-891)Cct>Tct	p.P297S	ZBTB7B_uc009wpa.3_Missense_Mutation_p.P263S|ZBTB7B_uc001fgk.4_Missense_Mutation_p.P263S|ZBTB7B_uc010peq.2_Missense_Mutation_p.P297S|ZBTB7B_uc001fgl.4_Missense_Mutation_p.P263S	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	263					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACTGCCTCCCCTCCTGAGGG	0.657000														18			4		0	0	0.000602214	0	0
OSMR	9180	broad.mit.edu	37	5	38886146	38886146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:38886146C>T	uc003jln.2	+	6	1247	c.845C>T	c.(844-846)tCt>tTt	p.S282F	OSMR_uc003jlm.2_Missense_Mutation_p.S282F	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	282					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TAAAGATTTTCTGGGGAAAAG	0.343000														34			8		0	0	0.000442599	0	0
GTF3C4	9329	broad.mit.edu	37	9	135553911	135553911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:135553911C>T	uc010mzv.3	+	1	1163	c.905C>T	c.(904-906)tCa>tTa	p.S302L	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	302					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TCCATCTCTTCATGCAACACA	0.468000														45			17		0	0	0.000566183	0	0
SPNS3	201305	broad.mit.edu	37	17	4391138	4391139	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:4391138_4391139GG>AA	uc002fxt.3	+	11	1532_1533	c.1488_1489GG>AA	c.(1486-1491)ctggag>ctAAag	p.E497K	SPNS3_uc002fxu.3_Missense_Mutation_p.E370K|AX748345_uc002fxw.1_5'Flank	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	497					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GCAACGACCTGGAGAGACAAGG	0.619000														98			9		0	0	6.4e-05	0	0
LTBP2	4053	broad.mit.edu	37	14	74989552	74989552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:74989552C>T	uc001xqa.3	-	15	2987	c.2600G>A	c.(2599-2601)gGa>gAa	p.G867E		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	867	Cys-rich.|EGF-like 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACATCTGTATCCATCGGGGAG	0.597000														26			6		0	0	0.00307968	0	0
IFNA17	3451	broad.mit.edu	37	9	21227727	21227727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:21227727C>T	uc003zos.1	-	0	495	c.446G>A	c.(445-447)aGa>aAa	p.R149K	IFNA14_uc003zoo.1_Intron	NM_021268	NP_067091	P01571	IFN17_HUMAN	Homo sapiens interferon, alpha 17 (IFNA17), mRNA.	149					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AAGAGTGATTCTTTGGAAGTA	0.443000														142			53		0	0	0.00361006	0	0
PRB2	653247	broad.mit.edu	37	12	11546614	11546614	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:11546614G>A	uc010shk.1	-	2	433	c.398C>T	c.(397-399)cCa>cTa	p.P133L		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGGTGGAGGACCTTG	0.612000														278			58		0	0	0.00361006	0	0
FUT1	2523	broad.mit.edu	37	19	49254041	49254041	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:49254041G>A	uc002pkk.3	-	3	1473	c.498C>T	c.(496-498)ggC>ggT	p.G166G	FUT1_uc021uwy.1_Silent_p.G166G	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	166					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGCAGGGGAAGCCAGAGAGCT	0.602000														150			42		0	0	0.00195071	0	0
PASK	23178	broad.mit.edu	37	2	242046123	242046123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:242046123G>A	uc002wao.2	-	17	3963	c.3830C>T	c.(3829-3831)tCc>tTc	p.S1277F	PASK_uc010zol.2_Missense_Mutation_p.S1091F|PASK_uc010zom.2_Missense_Mutation_p.S1242F|PASK_uc010fzl.2_Missense_Mutation_p.S1284F|PASK_uc010zon.2_Missense_Mutation_p.S1058F|PASK_uc021vzf.1_Missense_Mutation_p.S1277F	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1277					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCTCGCAGCGGACAGAACTCC	0.512000														52			11		0	0	0.00136819	0	0
DNAH7	56171	broad.mit.edu	37	2	196801389	196801389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:196801389G>A	uc002utj.4	-	19	3307	c.3206C>T	c.(3205-3207)cCc>cTc	p.P1069L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1069	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.F1068S(1)		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						AAAGAATCTGGGGAAAAAGAG	0.328000														82			13		0	0	0.00244969	0	0
MMP19	4327	broad.mit.edu	37	12	56233450	56233450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:56233450C>T	uc001sib.3	-	4	717	c.596G>A	c.(595-597)gGg>gAg	p.G199E	MMP19_uc001sia.3_5'UTR|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Intron	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	199					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						ACGGTAGGTCCCCTCAGTCCA	0.612000														33			5		0	0	0.000602214	0	0
LZTR1	8216	broad.mit.edu	37	22	21348031	21348031	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr22:21348031C>T	uc002zto.3	+	11	1444	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	LZTR1_uc002ztn.3_Silent_p.F406F|LZTR1_uc011ahy.2_Silent_p.F428F|LZTR1_uc010gsr.1_Silent_p.F318F	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	447	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.F447L(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGTGGAGTTCGTGCTGGGTG	0.627000														20			5		0	0	0.00116845	0	0
CCDC150	284992	broad.mit.edu	37	2	197597238	197597238	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:197597238T>A	uc002utp.1	+	27	3393	c.3258T>A	c.(3256-3258)aaT>aaA	p.N1086K	CCDC150_uc010zgs.1_Missense_Mutation_p.N733K	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	1086										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAAAACAGAATCTTAGGCCCA	0.433000														144			36		0	0	0.00195071	0	0
PCDH17	27253	broad.mit.edu	37	13	58208594	58208594	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr13:58208594C>T	uc001vhq.1	+	0	2806	c.1914C>T	c.(1912-1914)atC>atT	p.I638I	PCDH17_uc010aec.1_Silent_p.I638I	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	638	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGTTTGAGATCGACCCGTCCA	0.642000														95			17		0	0	0.000958276	0	0
C2orf49	79074	broad.mit.edu	37	2	105956091	105956091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:105956091G>A	uc002tcs.1	+	1	183	c.151G>A	c.(151-153)Gac>Aac	p.D51N	C2orf49_uc010fjd.1_Missense_Mutation_p.D51N	NM_024093	NP_076998	Q9BVC5	ASHWN_HUMAN	Homo sapiens chromosome 2 open reading frame 49 (C2orf49), mRNA.	51						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						CAGTCTTACTGACCTTTATGT	0.348000														59			9		0	0	0.000442599	0	0
STON2	85439	broad.mit.edu	37	14	81737163	81737163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:81737163C>T	uc010tvu.2	-	4	2662	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	STON2_uc001xvk.1_Missense_Mutation_p.E822K|STON2_uc010tvt.2_Missense_Mutation_p.E619K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	822	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GAAGGCACTTCCCGGTCAGAG	0.478000														59			13		0	0	0.00244969	0	0
CXorf36	79742	broad.mit.edu	37	X	45013381	45013381	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:45013381G>A	uc004dgg.2	-	3	810	c.735C>T	c.(733-735)ctC>ctT	p.L245L		NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA.	245						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						TGGTGCTGACGAGGAATCTGC	0.582000														20			8		0	0	0.000442599	0	0
GPR141	353345	broad.mit.edu	37	7	37780891	37780892	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:37780891_37780892GG>AA	uc003tfm.1	+	0	896_897	c.896_897GG>AA	c.(895-897)tgg>tAA	p.W299*	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	299						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTGGCTTATGGAATTGTGTTT	0.366000														69			8		0	0	6.4e-05	0	0
PRB1	5542	broad.mit.edu	37	12	11506861	11506861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:11506861C>T	uc001qzw.1	-	2	213	c.176G>A	c.(175-177)gGa>gAa	p.G59E	PRB1_uc001qzu.1_Missense_Mutation_p.G59E|PRB1_uc001qzv.1_Missense_Mutation_p.G59E	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	59	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGCTT	0.592000														182			36		0	0	0.00170553	0	0
TRPM6	140803	broad.mit.edu	37	9	77400927	77400927	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:77400927G>A	uc004ajl.1	-	20	3020	c.2782C>T	c.(2782-2784)Cga>Tga	p.R928*	TRPM6_uc004ajk.1_Nonsense_Mutation_p.R923*|TRPM6_uc022bib.1_Nonsense_Mutation_p.R923*|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	928					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCACCCCATCGAAGGACGAAG	0.478000														67			24		0	0	0.00229938	0	0
ELTD1	64123	broad.mit.edu	37	1	79383617	79383617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:79383617C>T	uc001diq.4	-	10	1736	c.1580G>A	c.(1579-1581)gGa>gAa	p.G527E		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	527					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.K526_G527>N*(1)|p.G527*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGCAAAAATCCCTTGTTGTA	0.418000														105			24		0	0	0.00332997	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832930	24832930	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:24832930C>T	uc001iru.4	+	18	5134	c.4731C>T	c.(4729-4731)ttC>ttT	p.F1577F	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Silent_p.F1260F|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Silent_p.F413F	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1577					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATTCAAATTCCCTAAGAAGC	0.468000														94			21		0	0	0.00188189	0	0
PSMB4	5692	broad.mit.edu	37	1	151372152	151372152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:151372152C>T	uc001eyc.1	+	0	112	c.89C>T	c.(88-90)tCc>tTc	p.S30F	PSMB4_uc010pda.2_Missense_Mutation_p.S30F	NM_002796	NP_002787	P28070	PSB4_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 4 (PSMB4), mRNA.	30					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCCCGATTCCTTCATGGAT	0.607000														125			20		0	0	0.00188189	0	0
OR5M1	390168	broad.mit.edu	37	11	56380844	56380844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:56380844C>T	uc001nja.1	-	0	135	c.135G>A	c.(133-135)atG>atA	p.M45I	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCAGCAGGATCATGCACAGGT	0.478000														92			23		0	0	0.00278032	0	0
RELN	5649	broad.mit.edu	37	7	103206733	103206733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:103206733C>T	uc022ajr.1	-	32	5034	c.4874G>A	c.(4873-4875)gGa>gAa	p.G1625E	RELN_uc022ajq.1_Missense_Mutation_p.G1625E|RELN_uc010liz.3_Missense_Mutation_p.G1625E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1625					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)		AACTTGACCTCCTTGGATTCG	0.363000														73			13		0	0	0.00136819	0	0
GPR112	139378	broad.mit.edu	37	X	135427218	135427218	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:135427218G>A	uc004ezu.1	+	5	1644	c.1353G>A	c.(1351-1353)gtG>gtA	p.V451V	GPR112_uc010nsb.1_Silent_p.V246V|GPR112_uc010nsc.1_Silent_p.V218V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	451					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)					GGTTTACAGTGGAAAAGACTT	0.478000														49			19		0	0	0.000958276	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365330	30365330	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr16:30365330G>A	uc002dxr.3	-	2	520	c.267C>T	c.(265-267)ccC>ccT	p.P89P	CD2BP2_uc002dxs.3_Silent_p.P89P	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	89					assembly of spliceosomal tri-snRNP	U5 snRNP|cytoplasm|nucleoplasm	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						GCAGGTTAAAGGGTGTGATCC	0.572000														92			14		0	0	0.000566183	0	0
RGS9	8787	broad.mit.edu	37	17	63173900	63173900	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:63173900G>A	uc002jfe.3	+	8	836	c.633G>A	c.(631-633)ccG>ccA	p.P211P	RGS9_uc021ubw.1_Silent_p.P211P|RGS9_uc010dem.3_Silent_p.P211P|RGS9_uc002jfd.3_Silent_p.P211P	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	211					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.P211L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGACCAATCCGAATGAAGTCA	0.488000														79			11		0	0	0.000978159	0	0
TRANK1	9881	broad.mit.edu	37	3	36897977	36897977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:36897977C>T	uc003cgj.3	-	11	3352	c.3104G>A	c.(3103-3105)gGc>gAc	p.G1035D		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1035					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTCCCAGTGCCACTTCGCCC	0.552000														38			11		0	0	0.00136819	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101597702	101597702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:101597702C>T	uc003knm.3	-	4	1222	c.935G>A	c.(934-936)gGa>gAa	p.G312E		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	312					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCACCAAGCTCCCAACCATCG	0.368000														33			6		0	0	0.00307968	0	0
SOX5	6660	broad.mit.edu	37	12	23793772	23793772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:23793772G>A	uc001rfw.3	-	7	1093	c.991C>T	c.(991-993)Cca>Tca	p.P331S	SOX5_uc001rfx.3_Missense_Mutation_p.P318S|SOX5_uc001rfy.3_Missense_Mutation_p.P318S|SOX5_uc010siv.2_Missense_Mutation_p.P318S|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.P283S	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	331					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CCTAAGCCTGGTGTTGCTGCG	0.453000														108			26		0	0	0.00209593	0	0
MUSK	4593	broad.mit.edu	37	9	113550028	113550028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:113550028G>A	uc022blv.1	+	13	1971	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.E524K|MUSK_uc022blu.1_Missense_Mutation_p.E514K	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	613	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GATGCTCAAAGAAGAAGCCTC	0.433000														27			5		0	0	0.000602214	0	0
GRID2	2895	broad.mit.edu	37	4	94137889	94137889	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:94137889G>A	uc011cdt.2	+	6	1048	c.790_splice	c.e6-1	p.E264_splice	GRID2_uc010ikx.3_Splice_Site_p.E264_splice|GRID2_uc011cdu.2_Splice_Site_p.E169_splice|GRID2_uc010ikz.1_Splice_Site	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	264					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.E264K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TATCTTATAGGAAATAAACGA	0.368000														68			12		0	0	0.000978159	0	0
TSGA10	80705	broad.mit.edu	37	2	99695146	99695147	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:99695146_99695147GG>AA	uc002szg.4	-	9	1485_1486	c.857_858CC>TT	c.(856-858)tcc>tTT	p.S286F	TSGA10_uc002szh.4_Missense_Mutation_p.S286F|TSGA10_uc002szi.4_Missense_Mutation_p.S286F|TSGA10_uc010fin.1_Missense_Mutation_p.S286F|TSGA10_uc010yvn.1_Missense_Mutation_p.S286F	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	286					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCTCTCCAAGGGATGCAATATT	0.351000														46			9		0	0	6.4e-05	0	0
ODZ2	57451	broad.mit.edu	37	5	167674702	167674702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:167674702G>A	uc010jjd.3	+	26	6731	c.6731G>A	c.(6730-6732)cGg>cAg	p.R2244Q	ODZ2_uc003lzr.4_Missense_Mutation_p.R2014Q|ODZ2_uc003lzt.4_Missense_Mutation_p.R1617Q|ODZ2_uc010jje.3_Missense_Mutation_p.R1508Q	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTCCGGGATCGGATAACCAGA	0.532000														30			7		0	0	0.00307968	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474422	99474423	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:99474422_99474423GG>AA	uc003usc.1	-	0	234_235	c.234_235CC>TT	c.(232-237)atcctg>atTTtg	p.78_79IL>IL		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCCATCTTCAGGATGATTGTGG	0.480000														71			21		0	0	6.4e-05	0	0
MTHFD1	4522	broad.mit.edu	37	14	64898334	64898334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:64898334C>T	uc001xhb.3	+	13	1783	c.1396C>T	c.(1396-1398)Cat>Tat	p.H466Y	MTHFD1_uc010aqe.2_Missense_Mutation_p.H502Y|MTHFD1_uc010aqf.3_Missense_Mutation_p.H522Y	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	466	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TCGGATATTTCATGAACTGAC	0.443000														53			9		0	0	0.000442599	0	0
ME1	4199	broad.mit.edu	37	6	84025066	84025066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:84025066C>T	uc003pjy.3	-	5	932	c.667G>A	c.(667-669)Gat>Aat	p.D223N	ME1_uc011dzb.2_Missense_Mutation_p.D148N|ME1_uc011dzc.2_Missense_Mutation_p.D57N	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	223					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding	p.D222N(2)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCCAAAAAATCATCATATTCA	0.294000														60			15		0	0	0.00074312	0	0
HDAC1	3065	broad.mit.edu	37	1	32796205	32796205	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:32796205C>T	uc001bvb.1	+	7	819	c.756C>T	c.(754-756)ttC>ttT	p.F252F	HDAC1_uc010ohf.1_Silent_p.F223F|HDAC1_uc001bvc.1_Silent_p.F8F	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	Homo sapiens histone deacetylase 1 (HDAC1), mRNA.	252	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	NuRD complex|Sin3 complex|cytosol	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TGGAGATGTTCCAGCCTAGTG	0.483000														140			33		0	0	0.00222228	0	0
SAMD9	54809	broad.mit.edu	37	7	92734411	92734411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:92734411C>T	uc003umf.3	-	2	1270	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	SAMD9_uc003umg.3_Missense_Mutation_p.E334K|SAMD9_uc022ahg.1_Missense_Mutation_p.E334K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	334						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTACTTTGTTCCCATATTTTG	0.313000														68			18		0	0	0.00152264	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156711040	156711040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:156711040C>T	uc003ipc.3	+	4	639	c.472C>T	c.(472-474)Cat>Tat	p.H158Y	GUCY1B3_uc011cio.2_Missense_Mutation_p.H180Y|GUCY1B3_uc011cip.2_Missense_Mutation_p.H138Y|GUCY1B3_uc003ipd.3_Missense_Mutation_p.H86Y|GUCY1B3_uc010iqf.3_Missense_Mutation_p.H158Y|GUCY1B3_uc010iqg.3_Missense_Mutation_p.H86Y|GUCY1B3_uc011ciq.2_Missense_Mutation_p.H86Y	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	158					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ACAACAAATCCATGGCACTGA	0.373000														91			17		0	0	0.00152264	0	0
RGPD4	285190	broad.mit.edu	37	2	108499184	108499184	+	Silent	SNP	A	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:108499184A>C	uc010ywk.2	+	21	5203	c.5121A>C	c.(5119-5121)gcA>gcC	p.A1707A	RGPD4_uc002tdu.3_Silent_p.A894A|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1707	GRIP.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGGAGTCTGCAGCTAACGTGG	0.403000														126			18		0	0	0.00152264	0	0
OR4X2	119764	broad.mit.edu	37	11	48267238	48267238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:48267238G>A	uc001ngs.1	+	0	583	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G195V(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTTGCCAATGGAGGCACCCT	0.498000														138			24		0	0	0.00278032	0	0
REV3L	5980	broad.mit.edu	37	6	111695369	111695369	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:111695369T>C	uc003puy.4	-	12	4530	c.4189A>G	c.(4189-4191)Atc>Gtc	p.I1397V	REV3L_uc003pux.4_Missense_Mutation_p.I1319V|REV3L_uc003puz.4_Missense_Mutation_p.I1319V	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1397					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AACTTTCCGATTGATGACAAA	0.353000								DNA polymerases (catalytic subunits)						75			27		0	0	0.00465635	0	0
RGS8	85397	broad.mit.edu	37	1	182635130	182635130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:182635130G>A	uc010pnw.1	-	4	425	c.167C>T	c.(166-168)tCc>tTc	p.S56F	RGS8_uc001gpn.1_Missense_Mutation_p.S56F|RGS8_uc001gpm.1_Missense_Mutation_p.S74F	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	56	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CACATCAAAGGAATCTGCCCA	0.403000														138			32		0	0	0.0024448	0	0
PRRG1	5638	broad.mit.edu	37	X	37312548	37312548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:37312548C>T	uc004ddn.3	+	4	584	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	PRRG1_uc004ddo.3_Missense_Mutation_p.R111C|PRRG1_uc022buu.1_Missense_Mutation_p.R111C|PRRG1_uc022buv.1_Missense_Mutation_p.R111C	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	111						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AAACAAAACTCGTAGACAGAC	0.443000														63			21		0	0	0.00152264	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805734	102805734	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:102805734A>C	uc002tbs.3	+	2	383	c.257A>C	c.(256-258)gAa>gCa	p.E86A	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	86	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTCCCCATGGAATGGGGGGAC	0.348000														22			8		0	0	0.00448238	0	0
GABRB2	2561	broad.mit.edu	37	5	160761781	160761781	+	Silent	SNP	A	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:160761781A>C	uc003lys.1	-	7	1028	c.810T>G	c.(808-810)gcT>gcG	p.A270A	GABRB2_uc011deh.1_Silent_p.A109A|GABRB2_uc003lyr.1_Silent_p.A270A|GABRB2_uc003lyt.1_Silent_p.A270A|GABRB2_uc021yhg.1_Silent_p.A207A	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	270					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTGCAGCTGAAGCATCGTAAT	0.433000														51			10		0	0	0.000978159	0	0
CD86	942	broad.mit.edu	37	3	121828152	121828152	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr3:121828152G>A	uc003eet.3	+	4	872	c.744G>A	c.(742-744)tgG>tgA	p.W248*	CD86_uc011bjo.2_Nonsense_Mutation_p.W166*|CD86_uc011bjp.2_Nonsense_Mutation_p.W136*|CD86_uc003eeu.3_Nonsense_Mutation_p.W242*|CD86_uc021xcz.1_Intron	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	248					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	ACATTCCTTGGATTACAGCTG	0.413000														70			11		0	0	0.000673444	0	0
DEFB119	245932	broad.mit.edu	37	20	29976901	29976901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:29976901C>T	uc002wvu.1	-	1	314	c.194G>A	c.(193-195)gGa>gAa	p.G65E	DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron	NM_153323	NP_697018	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA.	0					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCCAAGGATTCCATGAATTGT	0.408000														66			9		0	0	0.000673444	0	0
TNNT3	7140	broad.mit.edu	37	11	1953709	1953709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:1953709C>T	uc001luu.4	+	8	348	c.136C>T	c.(136-138)Cct>Tct	p.P46S	TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.4_Missense_Mutation_p.P38S|TNNT3_uc001luo.4_Missense_Mutation_p.P38S|TNNT3_uc001lup.4_Missense_Mutation_p.P44S|TNNT3_uc001luq.4_Missense_Mutation_p.P38S|TNNT3_uc001lur.3_Missense_Mutation_p.P38S|TNNT3_uc010qxf.2_Missense_Mutation_p.P44S|TNNT3_uc010qxg.2_5'UTR|TNNT3_uc001lus.1_Non-coding_Transcript|TNNT3_uc001lut.1_Non-coding_Transcript	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	57					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		ACTCACTGCTCCTAAGATCCC	0.582000														80			23		0	0	0.00106085	0	0
HIPK3	10114	broad.mit.edu	37	11	33308619	33308619	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:33308619A>G	uc001mul.1	+	1	929	c.659A>G	c.(658-660)aAt>aGt	p.N220S	HIPK3_uc001mum.1_Missense_Mutation_p.N220S|HIPK3_uc009yjv.1_Missense_Mutation_p.N220S	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	220	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGAGGGACAAATGAAATTGTA	0.388000														28			6		0	0	0.00116845	0	0
KCNB2	9312	broad.mit.edu	37	8	73480030	73480030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:73480030C>T	uc003xzb.3	+	1	649	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	21					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)			ACTTTCCCTTCCTCCAGAGCC	0.522000														100			20		0	0	0.00121646	0	0
FAM190A	401145	broad.mit.edu	37	4	91230693	91230693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:91230693C>T	uc003hsv.4	+	1	1598	c.1258C>T	c.(1258-1260)Cct>Tct	p.P420S	FAM190A_uc003hsu.3_Missense_Mutation_p.P420S|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.P420S	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	420										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AAAGATAATACCTACTTCTGG	0.348000														71			16		0	0	0.00316338	0	0
NREP	9315	broad.mit.edu	37	5	111066639	111066639	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:111066639G>A	uc011cvr.2	-	3	510	c.318C>T	c.(316-318)atC>atT	p.I106I	NREP_uc011cvs.2_Silent_p.I96I|LOC100505678_uc021ych.1_Intron|NREP_uc003kpk.3_Intron|NREP_uc003kpl.3_Silent_p.I62I|NREP_uc003kpm.3_Silent_p.I62I|NREP_uc011cvk.2_Silent_p.I62I|NREP_uc011cvl.2_Silent_p.I62I|NREP_uc011cvm.2_Silent_p.I62I|NREP_uc011cvn.2_Silent_p.I62I|NREP_uc011cvo.2_Silent_p.I62I|NREP_uc011cvp.2_Silent_p.I62I|NREP_uc011cvq.2_Silent_p.I62I	NM_001142475	NP_001135947	Q16612	NP311_HUMAN	Homo sapiens neuronal regeneration related protein homolog (rat) (NREP), transcript variant 3, mRNA.	62						cytoplasm											GGAGGTAACTGATTCTTGGGG	0.448000														95			27		0	0	0.00465635	0	0
ANK3	288	broad.mit.edu	37	10	61830498	61830498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:61830498C>T	uc001jky.3	-	36	10479	c.10141G>A	c.(10141-10143)Gaa>Aaa	p.E3381K	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.	3381					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						TGGGCAATTTCATTCTGAGGT	0.458000														97			18		0	0	0.000958276	0	0
MRPS35	60488	broad.mit.edu	37	12	27908197	27908197	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:27908197C>T	uc001rih.3	+	7	857	c.786C>T	c.(784-786)atC>atT	p.I262I	MRPS35_uc001rii.3_3'UTR	NM_021821	NP_068593	P82673	RT35_HUMAN	Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	262					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AAAGAAATATCCTGGAAACGC	0.343000														114			24		0	0	0.00229938	0	0
C1orf88	128344	broad.mit.edu	37	1	111891180	111891180	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:111891180C>A	uc001eaw.2	+	3	381	c.301C>A	c.(301-303)Cag>Aag	p.Q101K	C1orf88_uc001eax.2_Missense_Mutation_p.Q68K|C1orf88_uc009wge.1_Intron	NM_181643	NP_857594	Q8TCI5	CA088_HUMAN	Homo sapiens chromosome 1 open reading frame 88 (C1orf88), mRNA.	101										breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)	14		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTAAGTCCTCAGCAGGAAAA	0.378000														327			8		0.00307968	0.00989453	0.00307968	1	0
SORBS3	10174	broad.mit.edu	37	8	22428628	22428628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:22428628C>T	uc003xbv.3	+	17	1977	c.1637C>T	c.(1636-1638)cCc>cTc	p.P546L	SORBS3_uc003xbw.4_Missense_Mutation_p.P204L	NM_005775	NP_005766	O60504	VINEX_HUMAN	Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA.	546					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCCAGCTCCCCCTCAGCCCTG	0.721000														27			7		0	0	0.00198382	0	0
C1orf114	57821	broad.mit.edu	37	1	169394155	169394155	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:169394155T>C	uc001gga.1	-	1	179	c.11A>G	c.(10-12)aAt>aGt	p.N4S	C1orf114_uc001gfz.1_Missense_Mutation_p.N4S|C1orf114_uc009wvq.1_Missense_Mutation_p.N4S|C1orf114_uc001ggb.3_Missense_Mutation_p.N4S|C1orf114_uc001ggc.1_Missense_Mutation_p.N4S	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	4										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					AGTATCTTTATTTTCATTCAT	0.323000														48			11		0	0	0.000978159	0	0
CTSG	1511	broad.mit.edu	37	14	25042969	25042969	+	Silent	SNP	G	A	A	rs147260851	byFrequency	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:25042969G>A	uc001wpq.3	-	4	679	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	214	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CATAGGAGACGATGCCGTGGG	0.557000														121			23		0	0	0.00465635	0	0
CPA2	1358	broad.mit.edu	37	7	129910554	129910554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:129910554G>A	uc003vpq.3	+	3	329	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	CPA2_uc011kpc.1_Missense_Mutation_p.E104K	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	104					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CAAAGAGAATGAAGAAATGCT	0.388000														40			15		0	0	0.000566183	0	0
ADCY8	114	broad.mit.edu	37	8	131964220	131964220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:131964220G>A	uc003ytd.4	-	2	1391	c.1135C>T	c.(1135-1137)Ccc>Tcc	p.P379S	ADCY8_uc010mds.3_Missense_Mutation_p.P379S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	379					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACAAACCGGGGGAGCACAGAA	0.537000										HNSCC(32;0.087)				39			7		0	0	0.00307968	0	0
TTN	7273	broad.mit.edu	37	2	179641337	179641337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:179641337G>A	uc021vsy.1	-	27	5479	c.5254C>T	c.(5254-5256)Cgt>Tgt	p.R1752C	TTN_uc021vsz.1_Missense_Mutation_p.R1706C|TTN_uc021vta.1_Missense_Mutation_p.R1706C|TTN_uc021vtb.1_Missense_Mutation_p.R1706C|TTN_uc002unb.2_Missense_Mutation_p.R1752C|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1752	Ig-like 8.						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)			TTGATCATACGGAGCCTGTTG	0.483000														45			16		0	0	0.00316338	0	0
C10orf62	414157	broad.mit.edu	37	10	99350161	99350161	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:99350161G>A	uc001koa.3	+	0	712	c.507G>A	c.(505-507)agG>agA	p.R169R	PI4K2A_uc001knx.2_Intron|PI4K2A_uc001kny.3_Intron|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron	NM_001009997	NP_001009997	Q5T681	CJ062_HUMAN	Homo sapiens chromosome 10 open reading frame 62 (C10orf62), mRNA.	169							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		AGGAGCTGAGGGCCCTCGAGG	0.572000														69			21		0	0	0.00395357	0	0
MARCO	8685	broad.mit.edu	37	2	119727733	119727733	+	Silent	SNP	C	T	T	rs75633112		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:119727733C>T	uc002tln.1	+	2	375	c.243C>T	c.(241-243)ttC>ttT	p.F81F	MARCO_uc010yyf.1_Silent_p.F3F	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	81					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGATGTATTTCCTCAATGACA	0.582000														84			13		0	0	0.00185496	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103014048	103014048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:103014048C>T	uc001phn.1	+	17	2770	c.2626C>T	c.(2626-2628)Ctt>Ttt	p.L876F	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.L876F	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	876	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGAAAAGCATCTTTTTACTGT	0.318000														135			12		0	0	0.00244969	0	0
TKTL2	84076	broad.mit.edu	37	4	164393595	164393595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:164393595G>A	uc003iqp.4	-	0	1453	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	431						cytoplasm	metal ion binding|transketolase activity	p.V430I(1)		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)				GGCCATCTGGGAGACTCCATC	0.473000														51			19		0	0	0.00121646	0	0
OR52R1	119695	broad.mit.edu	37	11	4824952	4824952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:4824952G>A	uc021qcs.1	-	0	659	c.659C>T	c.(658-660)tCa>tTa	p.S220L		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCACGTATGACATACCAAT	0.483000														37			7		0	0	0.00198382	0	0
abParts	0	broad.mit.edu	37	14	106926285	106926285	+	RNA	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:106926285C>T	uc021ser.1	-	325		c.11583G>A								Parts of antibodies, mostly variable regions.																		GATGGTGAATCGGCCCTTCAC	0.493000														120			37		0	0	0.00428921	0	0
GLTPD2	388323	broad.mit.edu	37	17	4692375	4692375	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:4692375C>T	uc002fza.2	+	0	122	c.69C>T	c.(67-69)ttC>ttT	p.F23F	VMO1_uc002fyx.3_5'Flank|VMO1_uc010vsh.2_5'Flank|VMO1_uc010vsi.2_5'Flank|VMO1_uc002fyy.3_5'Flank|BC150535_uc002fyz.2_3'UTR	NM_001014985	NP_001014985			Homo sapiens glycolipid transfer protein domain containing 2 (GLTPD2), mRNA.											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						TCGCTATCTTCGCGCTGCTGC	0.657000														24			4		0	0	0.00116845	0	0
LRRC45	201255	broad.mit.edu	37	17	79986379	79986379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:79986379C>T	uc002kde.3	+	10	1472	c.1232C>T	c.(1231-1233)gCc>gTc	p.A411V		NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA.	411						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCCATCCAGGCCGAGGGTGGG	0.672000														34			4		0	0	0.00024832	0	0
GALNT8	26290	broad.mit.edu	37	12	4854665	4854665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:4854665C>T	uc001qne.1	+	4	1023	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	311						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGACAACATTCGTTTTGACAC	0.498000														48			8		0	0	0.00307968	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072913	15072913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:15072913C>T	uc002naa.1	-	4	843	c.836G>A	c.(835-837)gGg>gAg	p.G279E	SLC1A6_uc010dzu.1_Missense_Mutation_p.G279E|SLC1A6_uc010xod.1_Missense_Mutation_p.G215E|SLC1A6_uc002nab.3_Missense_Mutation_p.G279E|SLC1A6_uc002nac.3_Missense_Mutation_p.G279E	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	279					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AATGACCAGCCCAAAGGCCAC	0.567000														70			24		0	0	0.000878237	0	0
ITIH2	3698	broad.mit.edu	37	10	7762890	7762890	+	Silent	SNP	C	T	T	rs148694864	byFrequency	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:7762890C>T	uc001ijs.3	+	6	864	c.702C>T	c.(700-702)ttC>ttT	p.F234F		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	234					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.F234F(4)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGGCCATTTCGATGGTGTTC	0.483000														94			24		0	0	0.000878237	0	0
OR10A7	121364	broad.mit.edu	37	12	55615074	55615074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:55615074G>A	uc010spf.2	+	0	266	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89W(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GTGTCCCCAAGGAAAATTATC	0.408000														151			27		0	0	0.00106085	0	0
EZH2	2146	broad.mit.edu	37	7	148526879	148526879	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:148526879T>A	uc003wfd.2	-	4	618	c.425A>T	c.(424-426)gAt>gTt	p.D142V	EZH2_uc022aov.1_Missense_Mutation_p.D103V|EZH2_uc011kug.2_Missense_Mutation_p.D133V|EZH2_uc003wfb.2_Missense_Mutation_p.D142V|EZH2_uc003wfc.2_Missense_Mutation_p.D103V|EZH2_uc011kuh.2_Missense_Mutation_p.D133V|EZH2_uc011kui.2_Missense_Mutation_p.D142V|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	142	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GAAAGTACCATCCTGATCTAA	0.333000			Mis		DLBCL									40			23		0	0	0.00229938	0	0
C14orf49	161176	broad.mit.edu	37	14	95923642	95923642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:95923642C>T	uc001yei.4	-	3	676	c.661G>A	c.(661-663)Gag>Aag	p.E221K	C14orf49_uc010avi.3_Missense_Mutation_p.E221K|C14orf49_uc001yej.1_Missense_Mutation_p.E221K	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	221					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		TCCTCATGCTCCCGGGCCACC	0.622000														92			16		0	0	0.00152264	0	0
ALOXE3	59344	broad.mit.edu	37	17	8015480	8015480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:8015480G>A	uc002gka.3	-	5	1214	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	ALOXE3_uc010cnr.3_Missense_Mutation_p.R239C|ALOXE3_uc010vuo.2_Missense_Mutation_p.R371C|ALOXE3_uc010vup.2_Non-coding_Transcript	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	239	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GAGCCCTTGCGATCCAACAGC	0.547000														121			33		0	0	0.000953801	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965498	35965499	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:35965498_35965499GG>AA	uc003jjv.2	-	3	1025_1026	c.832_833CC>TT	c.(832-834)cca>TTa	p.P278L	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.P278L|UGT3A1_uc011cor.2_Missense_Mutation_p.P244L|UGT3A1_uc003jjy.2_Missense_Mutation_p.P224L	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	278						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGTGGTACTGGTTTAATAGGT	0.470000														65			9		0	0	6.4e-05	0	0
BAG2	9532	broad.mit.edu	37	6	57048731	57048731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:57048731G>A	uc003pdr.3	+	2	771	c.379G>A	c.(379-381)Gat>Aat	p.D127N	BAG2_uc011dxo.2_Missense_Mutation_p.D94N	NM_004282	NP_004273	O95816	BAG2_HUMAN	Homo sapiens BCL2-associated athanogene 2 (BAG2), mRNA.	127	BAG.				apoptosis|protein folding		protein binding			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GTTTCTGGATGATTTGGGAAA	0.423000														73			21		0	0	0.00465635	0	0
IFNB1	3456	broad.mit.edu	37	9	21077589	21077589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:21077589C>T	uc003zok.3	-	0	355	c.280G>A	c.(280-282)Gat>Aat	p.D94N		NM_002176	NP_002167	P01574	IFNB_HUMAN	Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	94					B cell proliferation|activation of caspase activity|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of cell proliferation|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	CTAGATGAATCTTGTCTGAAA	0.448000														83			24		0	0	0.00278032	0	0
CCDC67	159989	broad.mit.edu	37	11	93088644	93088644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:93088644G>A	uc001pdq.3	+	2	237	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	CCDC67_uc001pdo.1_Missense_Mutation_p.R46Q|CCDC67_uc001pdp.3_Missense_Mutation_p.R46Q	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	46										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTGGAGACACGATTAGATCTT	0.388000														58			14		0	0	0.00316338	0	0
ABCB1	5243	broad.mit.edu	37	7	87135295	87135295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:87135295G>A	uc003uiz.2	-	27	4047	c.3554C>T	c.(3553-3555)gCc>gTc	p.A1185V	ABCB1_uc011khc.2_Missense_Mutation_p.A1121V	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1185	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ACGAGCTATGGCAATGCGTTG	0.403000														84			16		0	0	0.00074312	0	0
TRHDE	29953	broad.mit.edu	37	12	73056945	73056945	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:73056945C>T	uc001sxa.3	+	18	3075	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	1015					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACGAGCTTTTCCAATGGTTAG	0.398000														24			11		0	0	0.00244969	0	0
CNTN5	53942	broad.mit.edu	37	11	99690377	99690377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:99690377G>A	uc001pga.3	+	3	662	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	CNTN5_uc009ywv.2_Missense_Mutation_p.R53Q|CNTN5_uc001pfz.3_Missense_Mutation_p.R53Q|CNTN5_uc021qpb.1_Missense_Mutation_p.R53Q|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	53					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCAGACCACGATACAGCAGC	0.423000														87			10		0	0	0.000673444	0	0
THSD4	79875	broad.mit.edu	37	15	72030085	72030085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr15:72030085G>A	uc002atb.1	+	9	1724	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S	THSD4_uc010ukg.1_Missense_Mutation_p.G189S|THSD4_uc002ate.2_Missense_Mutation_p.G189S	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	549						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACCCTTCAATGGCCAGATGGT	0.527000														22			7		0	0	0.00448238	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884803	228884803	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:228884803T>A	uc002vpq.2	-	6	814	c.767A>T	c.(766-768)gAa>gTa	p.E256V	SPHKAP_uc002vpp.2_Missense_Mutation_p.E256V|SPHKAP_uc010zlx.1_Missense_Mutation_p.E256V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	256						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAATTCCATTCCACCTGGGT	0.383000														156			38		0	0	0.000953801	0	0
ABL2	27	broad.mit.edu	37	1	179087822	179087822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:179087822C>T	uc001gmj.4	-	6	1410	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	ABL2_uc010pnf.2_Missense_Mutation_p.E375K|ABL2_uc010png.2_Missense_Mutation_p.E354K|ABL2_uc010pnh.2_Missense_Mutation_p.E354K|ABL2_uc009wxe.3_Missense_Mutation_p.E354K|ABL2_uc001gmg.4_Missense_Mutation_p.E360K|ABL2_uc001gmi.4_Missense_Mutation_p.E360K|ABL2_uc010pne.2_Missense_Mutation_p.E339K|ABL2_uc001gmk.3_Missense_Mutation_p.E339K|ABL2_uc009wxf.2_Missense_Mutation_p.E360K	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	375	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E339*(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CGGTTGCATTCTCGGAGGTAA	0.428000			T	ETV6	AML									84			13		0	0	0.00185496	0	0
OR4A16	81327	broad.mit.edu	37	11	55111034	55111034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:55111034C>T	uc010rie.2	+	0	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(2)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGCCTATGATCGCTATGTGGC	0.463000														165			26		0	0	0.00106085	0	0
CDH9	1007	broad.mit.edu	37	5	26890594	26890594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:26890594C>T	uc003jgs.1	-	7	1502	c.1333G>A	c.(1333-1335)Gcc>Acc	p.A445T	CDH9_uc011cnv.1_Missense_Mutation_p.A38T	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	445	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CGGTCAAGGGCTTTCAAAGTG	0.418000														65			12		0	0	0.00136819	0	0
ZNF286B	729288	broad.mit.edu	37	17	18566006	18566007	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:18566006_18566007GG>AA	uc010vyd.1	-	4	1063_1064	c.812_813CC>TT	c.(811-813)ccc>cTT	p.P271L		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	Homo sapiens zinc finger protein 286B (ZNF286B), mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TGCAGGTATAGGGTTTCTCTCC	0.376000														38			14		0	0	6.4e-05	0	0
KCNIP3	30818	broad.mit.edu	37	2	96048147	96048147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:96048147C>T	uc002sup.3	+	6	693	c.578C>T	c.(577-579)tCc>tTc	p.S193F	KCNIP3_uc002suq.3_Missense_Mutation_p.S167F	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA.	193	EF-hand 3.				apoptosis|signal transduction|transcription, DNA-dependent	Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane	DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		ATCATGAAGTCCATCTATGAC	0.667000														46			11		0	0	0.000673444	0	0
USH2A	7399	broad.mit.edu	37	1	216465615	216465615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:216465615G>A	uc001hku.1	-	9	2129	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	USH2A_uc001hkv.3_Missense_Mutation_p.S581F	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	581	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAGCTTTTGGAATGGCTGTT	0.438000										HNSCC(13;0.011)				58			14		0	0	0.00244969	0	0
PDGFD	80310	broad.mit.edu	37	11	103797714	103797715	+	Missense_Mutation	DNP	TT	AA	AA			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:103797714_103797715TT>AA	uc001phq.3	-	5	1284_1285	c.912_913AA>TT	c.(910-915)ggaaat>ggTTat	p.N305Y	PDGFD_uc001php.3_Missense_Mutation_p.N299Y	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	305					positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAGCCACAATTTCCTCCACAGC	0.465000														32			7		0	0	6.4e-05	0	0
ZNF831	128611	broad.mit.edu	37	20	57769744	57769744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:57769744C>T	uc002yan.3	+	0	3670	c.3670C>T	c.(3670-3672)Cct>Tct	p.P1224S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1224						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCCAATGGCCCTCCTGGGAG	0.637000														17			5		0	0	0.000602214	0	0
OR10G8	219869	broad.mit.edu	37	11	123900446	123900446	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:123900446G>A	uc001pzp.1	+	0	117	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGTGCTGGGGAACCTCCTCA	0.562000														109			39		0	0	0.00148497	0	0
LATS2	26524	broad.mit.edu	37	13	21557732	21557732	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr13:21557732G>A	uc009zzs.3	-	4	2478	c.2113C>T	c.(2113-2115)Ctg>Ttg	p.L705L	LATS2_uc001unr.4_Silent_p.L705L	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	705	Protein kinase.				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTCCGGTTCAGGACATCCTTT	0.547000														77			14		0	0	0.00244969	0	0
EZR	7430	broad.mit.edu	37	6	159188497	159188498	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:159188497_159188498GT>AA	uc003qrt.4	-	11	1606_1607	c.1391_1392AC>TT	c.(1390-1392)cac>cTT	p.H464L	MIR3918_uc021zho.1_5'Flank|EZR_uc011efr.2_Missense_Mutation_p.H71L|EZR_uc011efs.2_Missense_Mutation_p.H432L|EZR_uc003qru.4_Missense_Mutation_p.H464L	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	464	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCATCACCAGGTGCAGCTCCTC	0.589000			T	ROS1	NSCLC									56			10		0	0	6.4e-05	0	0
MUC17	140453	broad.mit.edu	37	7	100675922	100675922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr7:100675922G>A	uc003uxp.1	+	2	1278	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	409	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.463000														173			83		0	0	0.00361006	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236203	140236203	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:140236203C>T	uc003lhx.2	+	0	570	c.570C>T	c.(568-570)ttC>ttT	p.F190F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.F190F|PCDHAC2_uc011dad.2_Silent_p.F190F	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	206	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACAAATTCCCAGTGCTTG	0.403000														55			24		0	0	0.00395357	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993591	140993591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:140993591C>T	uc004fbt.3	+	3	725	c.401C>T	c.(400-402)tCc>tTc	p.S134F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	134							protein binding	p.S134F(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCGAGTTCCTTCTTCTCC	0.502000										HNSCC(15;0.026)				77			16		0	0	0.00074312	0	0
PSIP1	11168	broad.mit.edu	37	9	15468713	15468713	+	Silent	SNP	A	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:15468713A>T	uc003zlv.4	-	13	1665	c.1335T>A	c.(1333-1335)gcT>gcA	p.A445A	PSIP1_uc003zlw.4_Silent_p.A445A	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	445					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTCTTTGTTCAGCAAGAGATT	0.388000														100			28		0	0	0.00106085	0	0
CAPSL	133690	broad.mit.edu	37	5	35910179	35910179	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:35910179T>A	uc003jjt.1	-	4	411	c.316_splice	c.e4-1	p.P106_splice	CAPSL_uc003jju.1_Splice_Site_p.P106_splice	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	106	EF-hand 2.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CATTGGAGGCTACAAAAATAG	0.363000														34			20		0	0	0.00188189	0	0
ADCY8	114	broad.mit.edu	37	8	132002709	132002709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:132002709C>T	uc003ytd.4	-	1	1296	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ADCY8_uc010mds.3_Missense_Mutation_p.R347H	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	347					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAAAGCTTGGCGCTGGGCCCG	0.522000										HNSCC(32;0.087)				138			32		0	0	0.00428921	0	0
DSCAM	1826	broad.mit.edu	37	21	41668096	41668096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr21:41668096G>A	uc002yyq.1	-	9	2520	c.2068C>T	c.(2068-2070)Ccc>Tcc	p.P690S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	690	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACAAACTTGGGAGGAACTGAA	0.413000														65			13		0	0	0.00400662	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545582	234545582	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:234545582G>A	uc002vur.3	+	0	460	c.414G>A	c.(412-414)aaG>aaA	p.K138K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Silent_p.K138K	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	141					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AATACTTAAAGGAGAGTTCTT	0.368000														114			23		0	0	0.00188189	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879272	209879272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:209879272G>A	uc001hhj.3	+	2	337	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	HSD11B1_uc021pin.1_Missense_Mutation_p.E69K|HSD11B1_uc001hhk.3_Missense_Mutation_p.E69K	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	69					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GAGGTCAAAAGAAACTCTACA	0.478000														58			13		0	0	0.00400662	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524178	24524178	+	Missense_Mutation	SNP	G	A	A	rs146672556	byFrequency	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:24524178G>A	uc002wtw.1	+	1	1078	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	149					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTGTCCTACGATGTGGAGGA	0.547000														108			18		0	0	0.00152264	0	0
RAB3IP	117177	broad.mit.edu	37	12	70178597	70178597	+	Splice_Site	SNP	T	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:70178597T>C	uc001svp.3	+	4	1101	c.654_splice	c.e4+2	p.E218_splice	RAB3IP_uc021rao.1_Splice_Site_p.E202_splice|RAB3IP_uc001svm.3_Splice_Site_p.E202_splice|RAB3IP_uc001svn.3_Splice_Site_p.E202_splice|RAB3IP_uc001svo.3_Splice_Site|RAB3IP_uc001svq.3_Splice_Site_p.E218_splice|RAB3IP_uc001svs.3_Splice_Site|RAB3IP_uc001svt.3_Splice_Site	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	218					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTATTTGAGGTTGGTCTATTT	0.353000														45			7		0	0	0.00198382	0	0
OR4C46	119749	broad.mit.edu	37	11	51516157	51516157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:51516157G>A	uc010ric.2	+	0	876	c.876G>A	c.(874-876)atG>atA	p.M292I		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M292I(2)|p.Q291R(1)|p.Q291K(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGCCCAGATGAAAAATGCCA	0.343000														20			4		0	0	0.00116845	0	0
GLO1	2739	broad.mit.edu	37	6	38652268	38652268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:38652268G>A	uc003ooc.3	-	2	312	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S		NM_006708	NP_006699	Q04760	LGUL_HUMAN	Homo sapiens glyoxalase I (GLO1), mRNA.	64					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	TTCATAATGGGAAAATCACAT	0.338000														45			13		0	0	0.00244969	0	0
AK094599	0	broad.mit.edu	37	2	133070509	133070509	+	RNA	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:133070509C>T	uc002ttk.1	+	2		c.163C>T								Homo sapiens cDNA FLJ37280 fis, clone BRAMY2012881.																		TTGGATAAAGCCCAGATAAAC	0.458000														86			5		0	0	0.000673444	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407724	1407724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:1407724C>T	uc010nct.2	+	6	738	c.416C>T	c.(415-417)gCg>gTg	p.A139V	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.A139V|CSF2RA_uc004cpq.2_Missense_Mutation_p.A139V|CSF2RA_uc004cpn.2_Missense_Mutation_p.A139V|CSF2RA_uc004cpo.2_Missense_Mutation_p.A139V|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.A6V|CSF2RA_uc004cpp.2_Missense_Mutation_p.A139V|CSF2RA_uc010ncv.2_Missense_Mutation_p.A139V|CSF2RA_uc004cpr.2_Missense_Mutation_p.A139V	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	139						extracellular region|integral to plasma membrane	cytokine receptor activity	p.A139V(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTACCTGGGCGAGGGGTCCG	0.458000														137			8		0	0	0.00307968	0	0
PASD1	139135	broad.mit.edu	37	X	150840219	150840219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:150840219G>A	uc004fev.4	+	12	1737	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	469						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AAACACTGGGGAGCTTCAGGA	0.463000														51			12		0	0	0.00136819	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955621	18955621	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:18955621G>A	uc001mpg.3	-	0	929	c.711C>T	c.(709-711)ttC>ttT	p.F237F		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	237					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATAAAAATAGGAAAAACTGAA	0.488000														48			5		0	0	0.000602214	0	0
KIF1C	10749	broad.mit.edu	37	17	4923917	4923917	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:4923917C>T	uc002gan.2	+	19	2238	c.1881C>T	c.(1879-1881)gcC>gcT	p.A627A		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	627					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGAACTTTGCCCAGAAGGAAC	0.622000														44			4		0	0	0.00024832	0	0
MUC16	94025	broad.mit.edu	37	19	9070360	9070360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:9070360C>T	uc002mkp.3	-	2	17290	c.17086G>A	c.(17086-17088)Gag>Aag	p.E5696K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5698	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCAGTCTCTCCTGTGTGGGG	0.502000														29			8		0	0	0.000673444	0	0
GALNT3	2591	broad.mit.edu	37	2	166611537	166611537	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:166611537T>G	uc010fph.1	-	7	1816	c.1429A>C	c.(1429-1431)Aaa>Caa	p.K477Q	GALNT3_uc010fpi.1_Missense_Mutation_p.K477Q	NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	477					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGGCGGTGTTTTATTTCAAAT	0.328000														36			5		0	0	0.000602214	0	0
DDX26B	203522	broad.mit.edu	37	X	134683699	134683699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chrX:134683699C>T	uc004eyw.4	+	6	1238	c.875C>T	c.(874-876)tCt>tTt	p.S292F		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	292										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCAGAATCTTTTTGGCCA	0.358000														186			42		0	0	0.00361006	0	0
OR6C6	283365	broad.mit.edu	37	12	55688295	55688295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:55688295G>A	uc010sph.2	-	0	722	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATCATGTGGGAAGTACAGGT	0.378000														44			9		0	0	0.000673444	0	0
PLXDC2	84898	broad.mit.edu	37	10	20335879	20335879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:20335879G>A	uc001iqg.1	+	2	1043	c.406G>A	c.(406-408)Gac>Aac	p.D136N	PLXDC2_uc001iqh.1_Intron	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	136						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GGTGAACATAGACCAAATGGA	0.373000														106			26		0	0	0.00465635	0	0
POTEE	445582	broad.mit.edu	37	2	131976345	131976345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:131976345G>A	uc002tsn.2	+	0	422	c.370G>A	c.(370-372)Gat>Aat	p.D124N	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	124							ATP binding										GGGAGACTACGATGACAGCGC	0.587000														90			11		0	0	0.000673444	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111147	7111147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:7111147C>T	uc001mfc.2	+	0	983	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	266	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding	p.R266H(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTACGGAGGTCGCGACCGTGA	0.672000														28			6		0	0	0.00198382	0	0
NR4A3	8013	broad.mit.edu	37	9	102590532	102590532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:102590532G>A	uc022bky.1	+	3	1009	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	NR4A3_uc004bae.3_Missense_Mutation_p.E70K|NR4A3_uc004baf.1_Missense_Mutation_p.E70K	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	70					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAGCAACTACGAACTCAAGCC	0.597000			T	EWSR1	extraskeletal myxoid chondrosarcoma									42			9		0	0	0.000673444	0	0
FAT4	79633	broad.mit.edu	37	4	126411478	126411478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:126411478C>T	uc003ifj.4	+	16	13501	c.13501C>T	c.(13501-13503)Cct>Tct	p.P4501S	FAT4_uc011cgp.2_Missense_Mutation_p.P2742S|FAT4_uc003ifi.1_Missense_Mutation_p.P1978S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4501					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						GATCTCTCTGCCTTTGTGGGC	0.602000														54			7		0	0	0.00307968	0	0
OR51L1	119682	broad.mit.edu	37	11	5020696	5020696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:5020696C>T	uc010qyu.2	+	0	484	c.484C>T	c.(484-486)Cct>Tct	p.P162S		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTTCCCACACCTTTGCTACT	0.493000														126			24		0	0	0.00229938	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854441	12854441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:12854441G>A	uc001auj.2	+	2	768	c.665G>A	c.(664-666)aGa>aAa	p.R222K		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	222								p.R222I(3)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCTGATAAGAAAGCTTCGT	0.403000														529			73		0	0	0.00361006	0	0
MAML1	9794	broad.mit.edu	37	5	179201702	179201702	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr5:179201702C>T	uc003mkm.3	+	4	3138	c.2875C>T	c.(2875-2877)Cag>Tag	p.Q959*	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	959					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACTGCACCCAGGCCTACCC	0.692000														45			9		0	0	0.00448238	0	0
MYO1H	283446	broad.mit.edu	37	12	109826566	109826566	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr12:109826566G>A	uc010sxn.1	+	0	43	c.43G>A	c.(43-45)Gat>Aat	p.D15N		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CGGGGTTCAGGATTTTGTGCT	0.522000														159			33		0	0	0.00209593	0	0
AMPD1	270	broad.mit.edu	37	1	115223028	115223028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:115223028G>A	uc001efe.2	-	5	766	c.718C>T	c.(718-720)Cac>Tac	p.H240Y	AMPD1_uc001eff.2_Missense_Mutation_p.H236Y	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	207					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ATTTTGAGGTGATAGCCCAGG	0.443000														132			30		0	0	0.00283554	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399643	47399643	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:47399643G>A	uc001cqp.4	-	8	1248	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	CYP4A11_uc001cqq.2_Silent_p.F399F|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	399					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCCATCAGGGAAGGTGACGG	0.577000														45			10		0	0	0.000978159	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37421261	37421261	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:37421261A>C	uc021ppc.1	+	3	535	c.436A>C	c.(436-438)Aat>Cat	p.N146H	ANKRD30A_uc001iza.1_Missense_Mutation_p.N146H	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	202						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAATGCAGTTAATAAGTATAA	0.294000														64			20		0	0	0.00152264	0	0
PDE1A	5136	broad.mit.edu	37	2	183104855	183104855	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:183104855G>C	uc002uos.3	-	3	464	c.380C>G	c.(379-381)gCt>gGt	p.A127G	PDE1A_uc010zfp.1_Missense_Mutation_p.A23G|PDE1A_uc002uoq.1_Missense_Mutation_p.A127G|PDE1A_uc010zfq.1_Missense_Mutation_p.A127G|PDE1A_uc002uor.3_Missense_Mutation_p.A111G|PDE1A_uc002uou.3_Missense_Mutation_p.A93G	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	127					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AAAAATTCCAGCTTGAACAGC	0.403000														81			15		0	0	0.00400662	0	0
CCDC108	255101	broad.mit.edu	37	2	219896344	219896344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:219896344C>T	uc002vjl.1	-	6	766	c.682G>A	c.(682-684)Gag>Aag	p.E228K	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Missense_Mutation_p.E217K|CCDC108_uc010zkq.1_Missense_Mutation_p.E163K	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	228						integral to membrane	structural molecule activity	p.A227A(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACATCCCCTCCGCTTTCTCA	0.627000														79			17		0	0	0.00121646	0	0
TCN1	6947	broad.mit.edu	37	11	59629046	59629046	+	Silent	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:59629046G>A	uc001noj.2	-	3	608	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	170					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTCAGGAGTGAAGTGGTTGA	0.468000														86			17		0	0	0.000958276	0	0
VRTN	55237	broad.mit.edu	37	14	74823912	74823912	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr14:74823912C>T	uc021rwl.1	+	0	426	c.426C>T	c.(424-426)tcC>tcT	p.S142S	VRTN_uc001xpw.4_Silent_p.S142S	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	142					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGAGGAGTCCCCTGAGATGA	0.597000														32			6		0	0	0.00116845	0	0
ZNF283	284349	broad.mit.edu	37	19	44352026	44352026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:44352026C>T	uc002oxr.4	+	6	1541	c.1273C>T	c.(1273-1275)Cat>Tat	p.H425Y	ZNF283_uc002oxp.4_Missense_Mutation_p.H286Y	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGAAAGAATTCATACTGGTGA	0.388000														76			24		0	0	0.00278032	0	0
GABRB1	2560	broad.mit.edu	37	4	47427754	47427754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:47427754G>A	uc003gxh.3	+	8	1518	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	GABRB1_uc011bze.2_Missense_Mutation_p.E312K	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	382					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.E382*(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAGTGGCTCGGAAGTGCTCAC	0.597000														57			7		0	0	0.00307968	0	0
EPG5	57724	broad.mit.edu	37	18	43526684	43526684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr18:43526684G>A	uc002lbm.3	-	6	1722	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F	EPG5_uc002lbo.1_Missense_Mutation_p.S541F	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	541					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCCTGAGGAGGATGGCTTCCG	0.473000														92			14		0	0	0.00121646	0	0
CSMD1	64478	broad.mit.edu	37	8	2800057	2800057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr8:2800057G>A	uc022aqr.1	-	68	10862	c.10472C>T	c.(10471-10473)gCc>gTc	p.A3491V	CSMD1_uc011kwj.2_Missense_Mutation_p.A2806V|CSMD1_uc010lrg.3_Missense_Mutation_p.A1383V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3492						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AACCAGAATGGCAGCCGCCAC	0.413000														17			5		0	0	0.000602214	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921104	12921104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr1:12921104G>A	uc001aum.1	+	3	982	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	299										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGAACTTGGAATTAACTTG	0.478000														116			23		0	0	0.00332997	0	0
MYO1F	4542	broad.mit.edu	37	19	8616665	8616666	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:8616665_8616666CC>TT	uc002mkg.3	-	7	867_868	c.729_730GG>AA	c.(727-732)caggtg>caAAtg	p.V244M	MYO1F_uc010xkf.2_3'UTR	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	244	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGCCGTCCACCTGGTAGGTGT	0.614000														57			15		0	0	6.4e-05	0	0
EXOC1	55763	broad.mit.edu	37	4	56766022	56766022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:56766022C>T	uc003hbe.1	+	16	2467	c.2309C>T	c.(2308-2310)tCt>tTt	p.S770F	EXOC1_uc003hbf.1_Missense_Mutation_p.S770F|EXOC1_uc003hbg.1_Missense_Mutation_p.S755F	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	770					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GTCATTTACTCTTTAGGACAA	0.303000														46			7		0	0	0.000442599	0	0
CD33	945	broad.mit.edu	37	19	51742799	51742799	+	Silent	SNP	T	C	C	rs149704584	byFrequency	TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr19:51742799T>C	uc002pwa.2	+	6	991	c.951T>C	c.(949-951)caT>caC	p.H317H	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Silent_p.H190H|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	317					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCAAGTTACATGGCCCCACTG	0.517000														39			9		0	0	0.00448238	0	0
CCBL1	883	broad.mit.edu	37	9	131600353	131600353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr9:131600353G>A	uc004bwh.3	-	4	600	c.415C>T	c.(415-417)Cct>Tct	p.P139S	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Missense_Mutation_p.P139S|CCBL1_uc004bwj.3_Missense_Mutation_p.P89S|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Missense_Mutation_p.P233S	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	139					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	ACAAACACAGGACGACCCCCT	0.532000														90			29		0	0	0.00283554	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95147328	95147328	+	Silent	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr4:95147328C>T	uc003htb.4	+	2	426	c.249C>T	c.(247-249)ttC>ttT	p.F83F	SMARCAD1_uc003htc.4_Silent_p.F83F|SMARCAD1_uc003htd.4_Silent_p.F83F|SMARCAD1_uc010ila.3_5'UTR	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	83					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TATCATATTTCAAAAATCAAA	0.323000														76			21		0	0	0.00121646	0	0
LOXL4	84171	broad.mit.edu	37	10	100017840	100017840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr10:100017840C>T	uc001kpa.1	-	6	1154	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	335	SRCR 3.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		TGGTCACAGACCGTGCCCCAC	0.682000														29			11		0	0	0.000673444	0	0
PNKD	25953	broad.mit.edu	37	2	219204769	219204769	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr2:219204769A>G	uc002vhn.3	+	3	514	c.370A>G	c.(370-372)Atc>Gtc	p.I124V	PNKD_uc002vhq.3_Missense_Mutation_p.I100V	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	124						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	p.P123R(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGCTTCCCATCCCTGTCCT	0.647000														53			9		0	0	0.000673444	0	0
MYH1	4619	broad.mit.edu	37	17	10399321	10399321	+	Silent	SNP	G	A	A	rs145122906		TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:10399321G>A	uc002gmo.3	-	34	5209	c.5115C>T	c.(5113-5115)atC>atT	p.I1705I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1705						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.I1705I(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTGTTCTGCGATTTTCCTGC	0.532000														61			13		0	0	0.00400662	0	0
DNAH8	1769	broad.mit.edu	37	6	38957859	38957861	+	In_Frame_Del	DEL	AAC	-	-			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr6:38957859_38957861delAAC	uc021yzh.1	+	87	13234_13236	c.13125_13127delAAC	c.(13123-13128)aaaacc>aac	p.4375_4376KT>N	DNAH8_uc003ooe.2_In_Frame_Del_p.4158_4159KT>N	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTTATGCAAAACCTTAGACCAG	0.404													---	137	---	---	19	---					
DCHS1	8642	broad.mit.edu	37	11	6662746	6662748	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr11:6662746_6662748delCAG	uc001mem.1	-	1	498_500	c.97_99delCTG	c.(97-99)ctgdel	p.L33del		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L33_G34insL(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635													---	4	---	---	2	---					
ARL4D	379	broad.mit.edu	37	17	41477428	41477429	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr17:41477428_41477429insA	uc002idt.3	+	1	509_510	c.328_329insA	c.(328-330)gagfs	p.E110fs	ARL4D_uc021txy.1_Frame_Shift_Ins_p.E110fs	NM_001661	NP_001652	P49703	ARL4D_HUMAN	Homo sapiens ADP-ribosylation factor-like 4D (ARL4D), mRNA.	110					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TGAGCGGCTGGAGGAAGCCAAG	0.663													---	51	---	---	7	---					
HNF4A	3172	broad.mit.edu	37	20	43052773	43052775	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A2A0-06A-11D-A196-08	TCGA-EE-A2A0-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f2ecbcd-5c9e-4d57-8aa5-962e2e86a83c	58098074-341b-4873-895b-257de49cf264	g.chr20:43052773_43052775delGCT	uc002xma.3	+	7	1097_1099	c.1008_1010delGCT	c.(1006-1011)gagctg>gag	p.L341del	HNF4A_uc002xlt.3_In_Frame_Del_p.L319del|HNF4A_uc002xlu.3_In_Frame_Del_p.L319del|HNF4A_uc002xlv.3_In_Frame_Del_p.L319del|HNF4A_uc002xly.3_In_Frame_Del_p.L341del|HNF4A_uc010ggq.3_In_Frame_Del_p.L334del|HNF4A_uc002xlz.3_In_Frame_Del_p.L341del	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	341					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTTTGGAGAGCTGCTGCTGCTG	0.576													---	232	---	---	7	---