Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR6T1	219874	broad.mit.edu	37	11	123813578	123813578	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:123813578T>A	ENST00000321252.2	-	1	1002	c.968A>T	c.(967-969)aAa>aTa	p.K323I		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		ATAAGATCATTTCCTTTGACT	0.413000													14	29					0	0	0.003163	0	0
PRPF18	8559	broad.mit.edu	37	10	13658444	13658444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:13658444C>T	ENST00000378572.3	+	9	999	c.839C>T	c.(838-840)cCc>cTc	p.P280L		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	280					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GCGCCTTGGCCCATCGGTGTC	0.428000													40	44					0	0	0.013114	0	0
TFRC	7037	broad.mit.edu	37	3	195791242	195791242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:195791242G>A	ENST00000360110.4	-	11	1425	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	TFRC_ENST00000420415.1_Missense_Mutation_p.S338F|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.S137F|TFRC_ENST00000392396.3_Missense_Mutation_p.S419F	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	419					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		GCCTACACCGGATTTTGCAGC	0.398000			T	BCL6	NHL								12	30					0	0	0.013537	0	0
DDC	1644	broad.mit.edu	37	7	50611728	50611728	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:50611728T>C	ENST00000444124.2	-	2	256	c.56A>G	c.(55-57)aAc>aGc	p.N19S	DDC_ENST00000380984.4_Missense_Mutation_p.N19S|DDC_ENST00000357936.5_Missense_Mutation_p.N19S|DDC_ENST00000431062.1_Missense_Mutation_p.N19S|DDC_ENST00000426377.1_Missense_Mutation_p.N19S	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	19					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TTCCATGTAGTTGGCCATGTA	0.572000													61	6					0	0	0.014410	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264221	140264221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140264221G>A	ENST00000289272.2	+	1	2368	c.2368G>A	c.(2368-2370)Gag>Aag	p.E790K	PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E790K|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCAGAGGGAGGAGGACTC	0.483000													18	19					0	0	0.010504	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294534	42294534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:42294534G>A	ENST00000342228.3	-	8	1865	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F	SLC20A2_ENST00000520262.1_Missense_Mutation_p.S499F|SLC20A2_ENST00000520179.1_Missense_Mutation_p.S499F	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	499					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTGAGCAAAGGACCCGAAACA	0.617000													7	1					0	0	0.003080	0	0
LHCGR	3973	broad.mit.edu	37	2	48936151	48936151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:48936151C>T	ENST00000294954.7	-	8	637	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	LHCGR_ENST00000401907.1_Missense_Mutation_p.E206K|LHCGR_ENST00000403273.1_Missense_Mutation_p.E206K|LHCGR_ENST00000344775.3_Missense_Mutation_p.E206K|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.E206K	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	206					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.E206K(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGTACGTTTTCCTTTAGCTCC	0.507000													41	41					0	0	0.008740	0	0
USP34	9736	broad.mit.edu	37	2	61416152	61416152	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:61416152T>A	ENST00000398571.2	-	79	10002	c.9926A>T	c.(9925-9927)aAc>aTc	p.N3309I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3309					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAGAGCTGGGTTTAACTGTTT	0.428000													37	38					0	0	0.006230	0	0
GFAP	2670	broad.mit.edu	37	17	42991117	42991117	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:42991117G>A	ENST00000253408.5	-	3	662	c.597C>T	c.(595-597)ttC>ttT	p.F199F	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.F199F|GFAP_ENST00000435360.2_Silent_p.F199F	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	199	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCTTCCTCAAGAACCGGATCT	0.572000													82	110					0	0	0.014410	0	0
NDST3	9348	broad.mit.edu	37	4	118975689	118975689	+	Silent	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:118975689C>G	ENST00000296499.5	+	2	1027	c.624C>G	c.(622-624)tcC>tcG	p.S208S	NDST3_ENST00000433996.2_Silent_p.S208S	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	208	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCAAATCTTCCAAGCTTGAAA	0.358000													15	71					0	0	0.004990	0	0
GALNS	2588	broad.mit.edu	37	16	88889034	88889034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:88889034G>A	ENST00000268695.5	-	12	1415	c.1327C>T	c.(1327-1329)Cac>Tac	p.H443Y	GALNS_ENST00000542788.1_Missense_Mutation_p.H368Y	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	443						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	CGTCCCAGGTGGAAGATCAGG	0.612000													15	1					0	0	0.004007	0	0
CHRM3	1131	broad.mit.edu	37	1	240072373	240072373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:240072373C>T	ENST00000255380.4	+	5	2401	c.1622C>T	c.(1621-1623)cCc>cTc	p.P541L		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	541					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACCGTGAACCCCGTGTGCTAT	0.483000													37	10					0	0	0.007835	0	0
RAD18	56852	broad.mit.edu	37	3	8977647	8977647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:8977647G>A	ENST00000264926.2	-	7	913	c.797C>T	c.(796-798)tCt>tTt	p.S266F		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	266	SAP.				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TCCTTGAATAGATAATCCATG	0.363000								Rad6 pathway					17	11					0	0	0.004007	0	0
GPR152	390212	broad.mit.edu	37	11	67219721	67219721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:67219721C>T	ENST00000312457.2	-	1	479	c.475G>A	c.(475-477)Gcc>Acc	p.A159T		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	159						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AAGAGTGTGGCCAGCACCCAG	0.687000													15	19					0	0	0.004990	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856737	62856737	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:62856737T>A	ENST00000584306.1	-	11	4057	c.3527A>T	c.(3526-3528)aAa>aTa	p.K1176I	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.K153I|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.K1176I|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.K294I|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.K214I	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1176						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAAGTGCCTTTTCTGGATGCT	0.517000													55	75					0	0	0.014410	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170001	207170001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:207170001C>T	ENST00000374423.3	+	5	1135	c.749C>T	c.(748-750)tCg>tTg	p.S250L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	250							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						ACTTCATTTTCGTATCAGAAA	0.358000													5	17					0	0	0.001168	0	0
NUDT4	11163	broad.mit.edu	37	12	93793043	93793043	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:93793043A>G	ENST00000337179.5	+	5	874	c.434A>G	c.(433-435)aAg>aGg	p.K145R	NUDT4_ENST00000547014.1_Missense_Mutation_p.K93R|NUDT4_ENST00000548662.1_Missense_Mutation_p.K92R|NUDT4_ENST00000549992.1_Missense_Mutation_p.K92R|NUDT4_ENST00000415493.2_Missense_Mutation_p.K144R	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	144					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						GAAAAGCTAAAGCTGGGTTGT	0.448000													8	92					0	0	0.008291	0	0
DIDO1	11083	broad.mit.edu	37	20	61512521	61512521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:61512521G>A	ENST00000266070.4	-	16	5112	c.4787C>T	c.(4786-4788)tCc>tTc	p.S1596F	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1596F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1596					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)					GCCACCCCTGGAAGCATCTCT	0.711000													9	16					0	0	0.006214	0	0
KNDC1	85442	broad.mit.edu	37	10	134981803	134981803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:134981803G>A	ENST00000304613.3	+	3	368	c.347G>A	c.(346-348)gGg>gAg	p.G116E	KNDC1_ENST00000530127.1_3'UTR|KNDC1_ENST00000368571.2_Missense_Mutation_p.G51E|KNDC1_ENST00000368572.2_Missense_Mutation_p.G116E			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	116	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GACGTGACCGGGAACACCTTT	0.567000													28	45					0	0	0.009535	0	0
STAB2	55576	broad.mit.edu	37	12	104064568	104064568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:104064568G>A	ENST00000388887.2	+	22	2558	c.2354G>A	c.(2353-2355)gGa>gAa	p.G785E		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	785					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AATAAATACGGACCTCGGTGT	0.557000													10	4					0	0	0.013537	0	0
OC90	729330	broad.mit.edu	37	8	133053841	133053841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:133053841C>T	ENST00000262283.5	-	8	962	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	OC90_ENST00000603859.1_Missense_Mutation_p.R92Q|OC90_ENST00000254627.3_Missense_Mutation_p.R92Q|OC90_ENST00000443356.2_Missense_Mutation_p.R92Q			Q02509	OC90_HUMAN	otoconin 90	92					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTCAAAGTCTCGGGGGCAGAG	0.527000													17	15					0	0	0.006122	0	0
SELP	6403	broad.mit.edu	37	1	169559423	169559423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:169559423C>T	ENST00000263686.6	-	16	2493	c.2456G>A	c.(2455-2457)gGa>gAa	p.G819E	SELP_ENST00000458599.2_Missense_Mutation_p.G635E|SELP_ENST00000367791.2_Missense_Mutation_p.G633E|SELP_ENST00000367786.2_Missense_Mutation_p.G757E|SELP_ENST00000367794.2_Missense_Mutation_p.G757E|SELP_ENST00000367792.2_Missense_Mutation_p.G635E|SELP_ENST00000367793.2_Missense_Mutation_p.G757E|SELP_ENST00000367788.2_Missense_Mutation_p.G757E	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	819					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGTAAAAACTCCATATGTTCC	0.378000													7	18					0	0	0.006214	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629688	9629688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:9629688G>A	ENST00000382492.2	-	1	775	c.457C>T	c.(457-459)Cca>Tca	p.P153S	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	153					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGGAAGTATGGGACCATAAAC	0.403000													23	25					0	0	0.003330	0	0
IGLV3-16	28799	broad.mit.edu	37	22	23090318	23090318	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:23090318G>A	ENST00000390311.2	+	0	295																											TCCAGCTCAGGGACAATAGTC	0.527000													12	26					0	0	0.003163	0	0
DSE	29940	broad.mit.edu	37	6	116756761	116756761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:116756761G>A	ENST00000331677.3	+	7	1574	c.1130G>A	c.(1129-1131)aGc>aAc	p.S377N	DSE_ENST00000359564.2_Missense_Mutation_p.S377N|DSE_ENST00000452085.3_Missense_Mutation_p.S377N|DSE_ENST00000537543.1_Missense_Mutation_p.S396N			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	377					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TATGATGGCAGCTTGAAATCG	0.403000													22	17					0	0	0.014323	0	0
STRN	6801	broad.mit.edu	37	2	37105036	37105036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:37105036C>T	ENST00000263918.4	-	10	1329	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	STRN_ENST00000379213.2_Missense_Mutation_p.D392N	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	441					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	p.D441N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTACTTACATCATAAGTTAGT	0.448000													64	84					0	0	0.014410	0	0
MYH2	4620	broad.mit.edu	37	17	10427854	10427854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10427854C>T	ENST00000245503.5	-	35	5488	c.5104G>A	c.(5104-5106)Gag>Aag	p.E1702K	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1702K|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1702					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1702Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGCTCCTCTCTGTCTGTTCC	0.577000													36	22					0	0	0.006230	0	0
ASXL3	80816	broad.mit.edu	37	18	31324796	31324796	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:31324796A>G	ENST00000269197.5	+	12	4984	c.4984A>G	c.(4984-4986)Aca>Gca	p.T1662A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAATCTTGTAACAAATGTTGC	0.448000													14	15					0	0	0.004007	0	0
PPL	5493	broad.mit.edu	37	16	4935161	4935161	+	Silent	SNP	G	G	A	rs148525665		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:4935161G>A	ENST00000345988.2	-	22	3584	c.3495C>T	c.(3493-3495)aaC>aaT	p.N1165N	PPL_ENST00000590782.2_Silent_p.N1163N	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1165					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCACTTTGGCGTTCTCCTCCT	0.617000													35	37					0	0	0.005524	0	0
CDCP1	64866	broad.mit.edu	37	3	45127229	45127229	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:45127229T>C	ENST00000296129.1	-	9	2546	c.2412A>G	c.(2410-2412)gaA>gaG	p.E804E		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	804						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGGTGTACGGTTCACTCTCAG	0.567000													25	25					0	0	0.005443	0	0
HELZ	9931	broad.mit.edu	37	17	65105655	65105655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:65105655G>A	ENST00000358691.5	-	29	4232	c.4066C>T	c.(4066-4068)Cct>Tct	p.P1356S	HELZ_ENST00000580168.1_Missense_Mutation_p.P1357S	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGGCGATTAGGGATTGCATAC	0.463000													22	36					0	0	0.014323	0	0
CAMK2D	817	broad.mit.edu	37	4	114426160	114426160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:114426160G>A	ENST00000429180.1	-	14	1874	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	CAMK2D_ENST00000454265.2_Intron|CAMK2D_ENST00000379773.2_Intron|CAMK2D_ENST00000511664.1_Missense_Mutation_p.P339L|CAMK2D_ENST00000418639.2_Intron|CAMK2D_ENST00000394522.3_Intron|CAMK2D_ENST00000394526.2_Intron|CAMK2D_ENST00000514328.1_Intron|CAMK2D_ENST00000508738.1_Intron|CAMK2D_ENST00000515496.1_Intron|CAMK2D_ENST00000505990.1_Missense_Mutation_p.P339L|CAMK2D_ENST00000296402.5_Intron|CAMK2D_ENST00000342666.5_Intron|CAMK2D_ENST00000394524.3_Intron			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	328					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ATTTTCTTTGGGGCTGGTTAC	0.408000													5	4					0	0	0.001984	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092744	30092744	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:30092744C>T	ENST00000567636.1	+	0	1119					NR_003558.1																						CCTGGAAAATCAAGGAAGAAA	0.458000													14	13					0	0	0.003163	0	0
MYO7B	4648	broad.mit.edu	37	2	128341880	128341880	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:128341880C>T	ENST00000389524.4	+	13	1580	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	MYO7B_ENST00000428314.1_Silent_p.L509L|MYO7B_ENST00000409816.2_Silent_p.L509L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	509	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCATCTCCCTCCTGGACGAAG	0.607000													9	34					0	0	0.010729	0	0
HSPA4L	22824	broad.mit.edu	37	4	128744730	128744730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:128744730G>A	ENST00000296464.3	+	16	2408	c.1997G>A	c.(1996-1998)gGa>gAa	p.G666E	HSPA4L_ENST00000508776.1_Missense_Mutation_p.G666E|HSPA4L_ENST00000505726.1_Missense_Mutation_p.G640E|HSPA4L_ENST00000439123.2_Missense_Mutation_p.G697E	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	666					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						TATGAAGACGGAGAGGACCAA	0.318000													15	28					0	0	0.007413	0	0
FUT9	10690	broad.mit.edu	37	6	96651992	96651992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:96651992G>A	ENST00000302103.5	+	3	1287	c.961G>A	c.(961-963)Gat>Aat	p.D321N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	321					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTGGAGGAAGGATTTCACTGT	0.368000													14	14					0	0	0.002450	0	0
AP1M1	8907	broad.mit.edu	37	19	16345235	16345235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:16345235C>T	ENST00000291439.3	+	12	1710	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	AP1M1_ENST00000541844.1_Missense_Mutation_p.R349W|AP1M1_ENST00000429941.2_Missense_Mutation_p.R368W|AP1M1_ENST00000590756.1_Missense_Mutation_p.R349W|AP1M1_ENST00000444449.2_Missense_Mutation_p.R433W	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	421	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TTACCAGCTCCGGACCCAGTG	0.687000													14	22					0	0	0.003163	0	0
WNT7A	7476	broad.mit.edu	37	3	13916592	13916592	+	Silent	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:13916592C>G	ENST00000285018.4	-	2	454	c.150G>C	c.(148-150)gcG>gcC	p.A50A	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	50					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCTGGCAGATCGCCCGCTGTC	0.592000													15	14					0	0	0.004007	0	0
ATP9A	10079	broad.mit.edu	37	20	50346390	50346390	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:50346390A>T	ENST00000338821.5	-	2	460	c.196T>A	c.(196-198)Ttc>Atc	p.F66I	ATP9A_ENST00000402822.1_Missense_Mutation_p.F66I|ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000311637.5_Missense_Mutation_p.F51I	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	66					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGAAAGGTGAAGAAATTGTAC	0.502000													31	40					0	0	0.012213	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99439518	99439518	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:99439518G>A	ENST00000397899.2	-	7	1549	c.1218C>T	c.(1216-1218)atC>atT	p.I406I		NM_207362.2	NP_997245.2			KIAA1211-like																		CCCCCTCAGGGATGGCGGTGG	0.731000													8	4					0	0	0.003080	0	0
CRYGN	155051	broad.mit.edu	37	7	151135226	151135226	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:151135226G>A	ENST00000337323.2	-	2	252	c.126C>T	c.(124-126)atC>atT	p.I42I	CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	42	Beta/gamma crystallin 'Greek key' 1.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTCCACGTGGATGGAGTTCA	0.587000													13	22					0	0	0.002450	0	0
OR5P2	120065	broad.mit.edu	37	11	7818441	7818441	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:7818441G>A	ENST00000329434.2	-	1	79	c.49C>T	c.(49-51)Cta>Tta	p.L17L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	17					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)		AAGCCCAATAGGATGAACCCC	0.418000													10	13					0	0	0.008291	0	0
ASL	435	broad.mit.edu	37	7	65548151	65548151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:65548151C>T	ENST00000304874.9	+	6	538	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ASL_ENST00000395331.3_Missense_Mutation_p.R146W|ASL_ENST00000380839.4_Missense_Mutation_p.R146W|ASL_ENST00000395332.3_Missense_Mutation_p.R146W	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	146					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CATGGTGGATCGGGCAGAGGC	0.637000													9	14					0	0	0.006214	0	0
COL4A1	1282	broad.mit.edu	37	13	110866304	110866304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:110866304G>A	ENST00000375820.4	-	3	324	c.203C>T	c.(202-204)cCt>cTt	p.P68L	COL4A1_ENST00000543140.1_Missense_Mutation_p.P68L	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	68					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGCCCCTCAGGTCCTTGCAT	0.542000													26	112					0	0	0.008361	0	0
TRIM38	10475	broad.mit.edu	37	6	25973440	25973440	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:25973440C>T	ENST00000357085.3	+	7	1277	c.801C>T	c.(799-801)tcC>tcT	p.S267S	TRIM38_ENST00000349458.3_Silent_p.S267S	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	267					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						AGGCTGTCTCCTTGGAACTTC	0.403000													9	9					0	0	0.006214	0	0
NR2F2	7026	broad.mit.edu	37	15	96880662	96880662	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:96880662G>A	ENST00000394166.3	+	3	2445	c.1056G>A	c.(1054-1056)caG>caA	p.Q352Q	NR2F2_ENST00000453270.2_Silent_p.Q199Q|NR2F2_ENST00000394171.2_Silent_p.Q199Q|NR2F2_ENST00000421109.2_Silent_p.Q219Q	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	352	Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TTAGGAGCCAGTACCCCAACC	0.502000													34	55					0	0	0.003271	0	0
SLIT1	6585	broad.mit.edu	37	10	98802742	98802742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:98802742C>T	ENST00000266058.4	-	20	2325	c.2080G>A	c.(2080-2082)Ggg>Agg	p.G694R	SLIT1_ENST00000371070.4_Missense_Mutation_p.G694R|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	694	LRRCT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.G694R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCGGGTTCCCCGTCACGATC	0.612000													22	18					0	0	0.014323	0	0
CRYBB1	1414	broad.mit.edu	37	22	27012187	27012187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:27012187G>A	ENST00000215939.2	-	2	227	c.97C>T	c.(97-99)Cct>Tct	p.P33S		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	33	N-terminal arm.				visual perception		structural constituent of eye lens	p.P33S(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CCGGGACTAGGGGATGTTCCT	0.652000													30	44					0	0	0.010818	0	0
OR13C4	138804	broad.mit.edu	37	9	107288793	107288793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:107288793C>T	ENST00000277216.3	-	1	697	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CTTGTGTCTTCCTGTGGCCGA	0.428000													23	45					0	0	0.003954	0	0
FLI1	2313	broad.mit.edu	37	11	128638021	128638021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:128638021C>T	ENST00000344954.6	+	3	528	c.140C>T	c.(139-141)cCg>cTg	p.P47L	FLI1_ENST00000525560.1_Intron|FLI1_ENST00000429175.2_Missense_Mutation_p.P80L|FLI1_ENST00000534087.1_Missense_Mutation_p.P47L|FLI1_ENST00000527767.2_3'UTR|FLI1_ENST00000281428.8_Missense_Mutation_p.P14L			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	80					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGGGAGTCTCCGGTGGACTGC	0.572000			T	EWSR1	Ewing sarcoma								3	4					0	0	0.009096	0	0
ALPK2	115701	broad.mit.edu	37	18	56205321	56205321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:56205321C>T	ENST00000361673.3	-	5	2311	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	700							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GATGCATTTTCCTTGTGGACC	0.488000													23	15					0	0	0.014323	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127571	117127571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:117127571G>A	ENST00000310357.3	-	3	1318	c.1297C>T	c.(1297-1299)Cgt>Tgt	p.R433C	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.R433C	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	433					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGACAGTCACGAGCTTGACAC	0.468000													5	5					0	0	0.001168	0	0
RASAL3	64926	broad.mit.edu	37	19	15565475	15565475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:15565475G>A	ENST00000343625.6	-	12	2031	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	651					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.R651C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TACGGGGCACGGTTGGCGAGG	0.662000											OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	2					0	0	0.010729	0	0
NFATC4	4776	broad.mit.edu	37	14	24839801	24839801	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:24839801G>A	ENST00000413692.2	+	3	1529		c.e3+1		NFATC4_ENST00000554050.1_Splice_Site|NFATC4_ENST00000555453.1_Splice_Site|NFATC4_ENST00000554661.1_Splice_Site|NFATC4_ENST00000553708.1_Splice_Site|NFATC4_ENST00000554344.1_Splice_Site|NFATC4_ENST00000553879.1_Splice_Site|NFATC4_ENST00000440487.2_Splice_Site|NFATC4_ENST00000555590.1_Splice_Site|NFATC4_ENST00000424781.2_Splice_Site|NFATC4_ENST00000557451.1_Splice_Site|NFATC4_ENST00000250373.4_Splice_Site|NFATC4_ENST00000539237.2_Splice_Site|NFATC4_ENST00000422617.3_Splice_Site|NFATC4_ENST00000553469.1_Splice_Site|NFATC4_ENST00000554591.1_Splice_Site|NFATC4_ENST00000554966.1_Splice_Site|NFATC4_ENST00000556169.1_Splice_Site|NFATC4_ENST00000556279.1_Splice_Site	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4						cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTATCTTCAGGTGAGGGTTGC	0.597000													13	13					0	0	0.003163	0	0
PTGDR	5729	broad.mit.edu	37	14	52734689	52734689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:52734689C>T	ENST00000306051.2	+	1	259	c.157C>T	c.(157-159)Cca>Tca	p.P53S	PTGDR_ENST00000553372.1_Missense_Mutation_p.P53S	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	53						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CTCGCGGCGTCCACTGCGCCC	0.711000													14	0					0	0	0.002450	0	0
CC2D1B	200014	broad.mit.edu	37	1	52824027	52824027	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:52824027G>A	ENST00000371586.2	-	13	1575	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.A479A	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	479										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TATCAGCCGGGGCTGAATCCT	0.592000													43	9					0	0	0.008740	0	0
GUF1	60558	broad.mit.edu	37	4	44688634	44688634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:44688634C>T	ENST00000281543.5	+	8	1036	c.842C>T	c.(841-843)tCc>tTc	p.S281F	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	281					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GGAGTGGTTTCCAAAGGAGAT	0.388000													9	31					0	0	0.006214	0	0
CREB3L3	84699	broad.mit.edu	37	19	4157214	4157214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:4157214C>T	ENST00000078445.2	+	3	526	c.379C>T	c.(379-381)Cat>Tat	p.H127Y	CREB3L3_ENST00000595923.1_Missense_Mutation_p.H126Y|CREB3L3_ENST00000602257.1_Missense_Mutation_p.H127Y|CREB3L3_ENST00000602147.1_Missense_Mutation_p.H127Y|CREB3L3_ENST00000252587.3_Missense_Mutation_p.H117Y	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	127					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTCCTATCATCCTGGCAA	0.657000													31	45					0	0	0.004289	0	0
GDE1	51573	broad.mit.edu	37	16	19516203	19516203	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:19516203G>A	ENST00000353258.3	-	5	1028	c.848_splice	c.e5+1	p.P283_splice		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	283	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						TCCAACTTACGGGGATACAAA	0.388000													17	15					0	0	0.006122	0	0
DAP3	7818	broad.mit.edu	37	1	155691377	155691377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:155691377C>T	ENST00000368336.5	+	4	362	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	DAP3_ENST00000343043.3_Missense_Mutation_p.P80S|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471214.1_3'UTR|DAP3_ENST00000421487.2_Intron|DAP3_ENST00000535183.1_Missense_Mutation_p.P39S	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	80					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GACTGTATTTCCCCATGGCCT	0.527000													15	49					0	0	0.004990	0	0
RP1-241P17.4	0	broad.mit.edu	37	X	114953452	114953452	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:114953452T>C	ENST00000449327.1	-	1	217	c.98A>G	c.(97-99)aAg>aGg	p.K33R																								CCTCTTAATCTTAAACTGCAC	0.468000													22	2					0	0	0.002780	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351246	40351246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:40351246C>T	ENST00000310169.2	+	4	852	c.713C>T	c.(712-714)tCg>tTg	p.S238L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	238					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGGAGGTCCTCGTTCTATATC	0.527000													173	91					0	0	0.014410	0	0
SLC12A5	57468	broad.mit.edu	37	20	44678397	44678397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:44678397G>A	ENST00000454036.1	+	17	2294	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E717K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	740					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACCTTTCTGGAAAATCATCC	0.582000													11	12					0	0	0.008291	0	0
CSMD2	114784	broad.mit.edu	37	1	34002637	34002637	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:34002637A>G	ENST00000373381.4	-	62	10040	c.9864T>C	c.(9862-9864)aaT>aaC	p.N3288N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3144						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCCCTGAGAATTGTTCTGTA	0.512000													16	60					0	0	0.008871	0	0
FAM26E	254228	broad.mit.edu	37	6	116833077	116833077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:116833077C>T	ENST00000368599.3	+	1	269	c.218C>T	c.(217-219)tCg>tTg	p.S73L	TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	73						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AACAATAGGTCGTGGAGACTC	0.522000													21	30					0	0	0.010504	0	0
OR5D13	390142	broad.mit.edu	37	11	55541558	55541558	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55541558C>T	ENST00000361760.1	+	1	645	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCCTAATTATCATTCTGACAT	0.438000													7	11					0	0	0.003080	0	0
GALNT16	57452	broad.mit.edu	37	14	69818812	69818812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:69818812C>T	ENST00000337827.4	+	15	1931	c.1604C>T	c.(1603-1605)cCt>cTt	p.P535L	GALNT16_ENST00000448469.3_Missense_Mutation_p.P535L	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GAGACAAAGCCTGCCCAGCTG	0.567000													23	27					0	0	0.014323	0	0
KIF14	9928	broad.mit.edu	37	1	200522619	200522619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:200522619C>T	ENST00000367350.4	-	30	5282	c.4844G>A	c.(4843-4845)gGc>gAc	p.G1615D		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1615	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTCTTACTGCCGTCAATCCC	0.443000													48	26					0	0	0.014410	0	0
SHANK2	22941	broad.mit.edu	37	11	70333007	70333007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:70333007C>T	ENST00000338508.4	-	32	3393	c.3394G>A	c.(3394-3396)Gat>Aat	p.D1132N	SHANK2_ENST00000449833.2_Missense_Mutation_p.D536N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D752N|SHANK2_ENST00000409161.1_Missense_Mutation_p.D535N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	752					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCAGCAAAATCCCCCTCCTCG	0.682000													22	25					0	0	0.012319	0	0
ADH1A	124	broad.mit.edu	37	4	100201357	100201357	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:100201357G>T	ENST00000209668.2	-	7	1021	c.908C>A	c.(907-909)tCa>tAa	p.S303*	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	303					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)	AGGGTTCATTGAGAGGTTTTG	0.463000													73	52					1.96331e-54	2.65167e-54	0.014410	1	0
ABCA3	21	broad.mit.edu	37	16	2347481	2347481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:2347481C>T	ENST00000301732.5	-	17	2812	c.2112G>A	c.(2110-2112)tgG>tgA	p.W704*	ABCA3_ENST00000382381.3_Nonsense_Mutation_p.W646*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	704	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GAAGAAGATCCCAGATGGCCC	0.617000													37	59					0	0	0.007835	0	0
KLRC3	3823	broad.mit.edu	37	12	10571032	10571032	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:10571032T>A	ENST00000396439.2	-	4	441	c.397A>T	c.(397-399)Aag>Tag	p.K133*	NKG2-E_ENST00000539033.1_Nonsense_Mutation_p.K133*|KLRC3_ENST00000381903.2_Nonsense_Mutation_p.K133*|KLRC3_ENST00000381904.2_Nonsense_Mutation_p.K133*	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTTCTTTCCTTACCAATGTAA	0.363000													21	53					0	0	0.014323	0	0
TRBV19	28568	broad.mit.edu	37	7	142326771	142326771	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:142326771C>T	ENST00000390393.3	+	0	277																											ATGGTGGAATCACTCAGTCCC	0.527000													24	33					0	0	0.002780	0	0
SLC23A1	9963	broad.mit.edu	37	5	138714357	138714357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:138714357C>T	ENST00000353963.3	-	10	1140	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	SLC23A1_ENST00000348729.3_Missense_Mutation_p.G364S	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	364					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CAGCAAATGCCTTCGGTGAAG	0.597000													6	7					0	0	0.003080	0	0
IGFN1	91156	broad.mit.edu	37	1	201190836	201190836	+	Missense_Mutation	SNP	G	G	A	rs140314343		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:201190836G>A	ENST00000335211.4	+	19	10293	c.10163G>A	c.(10162-10164)aGt>aAt	p.S3388N	IGFN1_ENST00000295591.8_Missense_Mutation_p.S548N	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGCCAGCCCAGTGCCCTGGAC	0.632000													26	12					0	0	0.007291	0	0
ADAM29	11086	broad.mit.edu	37	4	175897038	175897038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:175897038G>A	ENST00000359240.3	+	5	1032	c.362G>A	c.(361-363)gGg>gAg	p.G121E	ADAM29_ENST00000445694.1_Missense_Mutation_p.G121E|ADAM29_ENST00000514159.1_Missense_Mutation_p.G121E|ADAM29_ENST00000404450.4_Missense_Mutation_p.G121E	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	121					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)		ACCTGTTTTGGGGGTTTTCAA	0.428000													13	41					0	0	0.002450	0	0
OXLD1	339229	broad.mit.edu	37	17	79633587	79633587	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:79633587G>A	ENST00000571503.1	-	1	38	c.21C>T	c.(19-21)gtC>gtT	p.V7V	CCDC137_ENST00000329214.8_5'UTR|OXLD1_ENST00000374741.3_Silent_p.V7V					oxidoreductase-like domain containing 1																		GGCCTCCCTCGACCACCCTCC	0.741000													8	0					0	0	0.006214	0	0
ACSM4	341392	broad.mit.edu	37	12	7463136	7463136	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:7463136G>A	ENST00000399422.4	+	3	462	c.412_splice	c.e3-1	p.G138_splice		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	138					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CCTTCCCAGGGATCATCTTCA	0.547000													4	1					0	0	0.009096	0	0
OR2W3	343171	broad.mit.edu	37	1	248059766	248059766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:248059766G>A	ENST00000537741.1	+	3	1135	c.878G>A	c.(877-879)aGa>aAa	p.R293K	OR2W3_ENST00000360358.3_Missense_Mutation_p.R293K			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TACACCCTCAGAAACAGAGAG	0.537000													16	15					0	0	0.007413	0	0
PTPRO	5800	broad.mit.edu	37	12	15704582	15704582	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:15704582G>A	ENST00000281171.4	+	15	2865	c.2535G>A	c.(2533-2535)agG>agA	p.R845R	PTPRO_ENST00000442921.2_Silent_p.R34R|PTPRO_ENST00000542557.1_Silent_p.R34R|PTPRO_ENST00000445537.2_Silent_p.R34R|PTPRO_ENST00000544244.1_Silent_p.R34R|PTPRO_ENST00000348962.2_Silent_p.R845R	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	845						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTATTCTTAGGAAAAAGCATC	0.353000													11	21					0	0	0.013537	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38609958	38609958	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:38609958C>T	ENST00000222345.6	+	9	2813	c.2304C>T	c.(2302-2304)acC>acT	p.T768T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	768	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGCTGTGACCCGATCCAAAG	0.483000													32	34					0	0	0.004878	0	0
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:96706525C>T	ENST00000389672.5	+	3	840	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_ENST00000470610.2_Missense_Mutation_p.R268C|EPHA6_ENST00000542517.1_Missense_Mutation_p.R174C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACTGAAATTCGTGAGGTGGG	0.443000													95	53					0	0	0.014410	0	0
SPATA6L	55064	broad.mit.edu	37	9	4622494	4622494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:4622494G>A	ENST00000454239.2	-	8	931	c.686C>T	c.(685-687)cCc>cTc	p.P229L	SPATA6L_ENST00000381895.5_Missense_Mutation_p.P106L|SPATA6L_ENST00000381890.5_Missense_Mutation_p.P243L|SPATA6L_ENST00000475086.1_Missense_Mutation_p.P171L			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	171																	CTCACCAAAGGGCTTTGCACT	0.438000													9	28					0	0	0.004482	0	0
POLRMT	5442	broad.mit.edu	37	19	630055	630055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:630055G>A	ENST00000588649.2	-	3	391	c.307C>T	c.(307-309)Cca>Tca	p.P103S		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	103					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TTCCTGGGTGGCTGGAGGCTA	0.647000													49	31					0	0	0.014410	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216176	149216176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:149216176G>A	ENST00000309241.5	+	8	2190	c.2158G>A	c.(2158-2160)Gag>Aag	p.E720K	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.E681K|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.E720K|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.E656K	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	720					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGTTCACCTTGAGGACTGGCC	0.637000													14	26					0	0	0.002450	0	0
CXorf57	55086	broad.mit.edu	37	X	105875872	105875872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:105875872C>T	ENST00000372548.4	+	4	1106	c.997C>T	c.(997-999)Cga>Tga	p.R333*	CXorf57_ENST00000372544.2_Nonsense_Mutation_p.R333*	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	333										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CCTGAATCTTCGAGATCCCCC	0.303000													16	0					0	0	0.006122	0	0
RNASE1	6035	broad.mit.edu	37	14	21269982	21269982	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:21269982G>A	ENST00000397967.4	-	2	752	c.246C>T	c.(244-246)gtC>gtT	p.V82V	RNASE1_ENST00000340900.3_Silent_p.V82V|RNASE1_ENST00000412779.2_Silent_p.V82V|RNASE1_ENST00000555698.1_Silent_p.V42V|RNASE1_ENST00000397970.4_Silent_p.V82V	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	82						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		AGACATTCTGGACATCTACCA	0.542000													39	57					0	0	0.006999	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653070	46653070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:46653070C>T	ENST00000253255.5	-	1	6149	c.6150G>A	c.(6148-6150)atG>atA	p.M2050I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2050					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAATTATCCTCATAATGTGAT	0.443000													18	24					0	0	0.008871	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432972	140432972	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140432972G>A	ENST00000306549.3	+	1	1994	c.1917G>A	c.(1915-1917)caG>caA	p.Q639Q		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		639	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATGATGCAGAAATTGATCA	0.443000													50	64					0	0	0.014410	0	0
KIF3B	9371	broad.mit.edu	37	20	30904023	30904023	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:30904023C>T	ENST00000375712.3	+	3	1574	c.1407C>T	c.(1405-1407)gcC>gcT	p.A469A	KIF3B_ENST00000418717.2_Silent_p.A95A	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	469					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCACTCAGGCCATGGAGAGTA	0.433000													41	44					0	0	0.014410	0	0
CACNA1F	778	broad.mit.edu	37	X	49071940	49071940	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:49071940C>T	ENST00000376265.2	-	28	3394	c.3333G>A	c.(3331-3333)gtG>gtA	p.V1111V	CACNA1F_ENST00000323022.5_Silent_p.V1100V|CACNA1F_ENST00000376251.1_Silent_p.V1046V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1111	Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CTGAGATCTCCACACGGTAAT	0.522000													11	0					0	0	0.001855	0	0
SORL1	6653	broad.mit.edu	37	11	121456993	121456993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:121456993G>A	ENST00000260197.7	+	27	3898	c.3769G>A	c.(3769-3771)Gat>Aat	p.D1257N	SORL1_ENST00000534286.1_Missense_Mutation_p.D167N|SORL1_ENST00000525532.1_Missense_Mutation_p.D201N|SORL1_ENST00000532694.1_Missense_Mutation_p.D103N	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1257	LDL-receptor class A 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAAACATTGTGATGGTCTGCG	0.493000													91	89					0	0	0.014410	0	0
TTF1	7270	broad.mit.edu	37	9	135275536	135275536	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:135275536A>C	ENST00000334270.2	-	3	1516	c.1477T>G	c.(1477-1479)Tct>Gct	p.S493A		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	493					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTCACGGCAGAACCCAAATCC	0.463000													60	31					0	0	0.014410	0	0
CD207	50489	broad.mit.edu	37	2	71060792	71060792	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:71060792A>G	ENST00000410009.3	-	3	595	c.550T>C	c.(550-552)Ttg>Ctg	p.L184L		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	184					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CGTTTGAGCAACTTGCTCATA	0.468000													4	14					0	0	0.000602	0	0
CRYAA	1409	broad.mit.edu	37	21	44590650	44590650	+	Silent	SNP	C	C	T	rs61735855	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:44590650C>T	ENST00000291554.2	+	2	305	c.213C>T	c.(211-213)ttC>ttT	p.F71F	CRYAA_ENST00000398132.1_Silent_p.F34F|CRYAA_ENST00000398133.1_Silent_p.F51F|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	71					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GGGACAAGTTCGTCATCTTCC	0.607000													23	30					0	0	0.002780	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367481	99367481	+	Splice_Site	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:99367481T>G	ENST00000336411.2	-	6	616		c.e6-2		CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4						alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGGGACCATCTAAGCACAAAA	0.458000													32	31					0	0	0.005524	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161759	57161759	+	Missense_Mutation	SNP	C	C	T	rs141766544		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:57161759C>T	ENST00000371244.4	+	6	781	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	239	Protein kinase.				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	p.R239C(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATATCTCAATCGTTCTGTCGC	0.428000													139	51					0	0	0.014410	0	0
SEC16B	89866	broad.mit.edu	37	1	177927477	177927477	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:177927477G>A	ENST00000308284.6	-	10	1244	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	RP4-798P15.3_ENST00000528461.1_3'UTR|SEC16B_ENST00000464631.1_Silent_p.I386I|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	385					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCAGCTCAGCGATGTCAGACC	0.572000													26	8					0	0	0.006320	0	0
HELZ	9931	broad.mit.edu	37	17	65105656	65105656	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:65105656G>A	ENST00000358691.5	-	29	4231	c.4065C>T	c.(4063-4065)atC>atT	p.I1355I	HELZ_ENST00000580168.1_Silent_p.I1356I	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGCGATTAGGGATTGCATACT	0.468000													23	37					0	0	0.002780	0	0
LILRP2	79166	broad.mit.edu	37	19	55222050	55222050	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55222050C>T	ENST00000413439.1	+	0	1577																											ATCAGAGCACCAAGCTCAGCA	0.592000													28	21					0	0	0.010818	0	0
SCN10A	6336	broad.mit.edu	37	3	38798189	38798189	+	Silent	SNP	G	G	A	rs143438557	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:38798189G>A	ENST00000449082.2	-	9	1265	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	422					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGAGCATCTCGAGGGCCTCCT	0.498000													62	30					0	0	0.014410	0	0
PGK2	5232	broad.mit.edu	37	6	49754106	49754106	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:49754106G>A	ENST00000304801.3	-	1	947	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	265					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)					TATCTTTAACGATCTTGGCTC	0.418000													25	22					0	0	0.003954	0	0
SHANK3	85358	broad.mit.edu	37	22	51143463	51143463	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:51143463C>T	ENST00000414786.2	+	16	2153	c.1926C>T	c.(1924-1926)cgC>cgT	p.R642R	SHANK3_ENST00000262795.3_Silent_p.R672R|SHANK3_ENST00000445220.2_Silent_p.R657R			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	672										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GTGGCAACCGCCTCGTCATGA	0.612000													29	32					0	0	0.010818	0	0
RCC2	55920	broad.mit.edu	37	1	17749279	17749279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:17749279G>A	ENST00000375436.4	-	5	764	c.577C>T	c.(577-579)Cct>Tct	p.P193S	RCC2_ENST00000375433.3_Missense_Mutation_p.P193S	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	193					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ATGAGTCTAGGGGCTTCTACT	0.547000													16	39					0	0	0.006122	0	0
CCAR2	57805	broad.mit.edu	37	8	22474992	22474992	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:22474992C>T	ENST00000308511.4	+	15	2154	c.1905C>T	c.(1903-1905)ccC>ccT	p.P635P	KIAA1967_ENST00000520861.1_Silent_p.P310P|KIAA1967_ENST00000389279.3_Silent_p.P635P			Q8N163	K1967_HUMAN		635					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AAGAAAAACCCCGGGGCGAGG	0.532000													22	3					0	0	0.012319	0	0
FKBPL	63943	broad.mit.edu	37	6	32097394	32097394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32097394G>A	ENST00000375156.3	-	2	434	c.164C>T	c.(163-165)cCa>cTa	p.P55L		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	55					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										TTGGCTGGCTGGATCTGGGCT	0.483000													145	315					0	0	0.014410	0	0
MAP4K1	11184	broad.mit.edu	37	19	39100579	39100579	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:39100579G>A	ENST00000591517.1	-	12	925	c.897C>T	c.(895-897)tcC>tcT	p.S299S	MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Silent_p.S299S|MAP4K1_ENST00000589130.1_Silent_p.S295S|MAP4K1_ENST00000586296.1_Silent_p.S299S|MAP4K1_ENST00000589002.1_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	299					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTCCCCAATGGAGGGTCCTT	0.582000													27	43					0	0	0.012213	0	0
CHRNB3	1142	broad.mit.edu	37	8	42552732	42552732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:42552732C>T	ENST00000289957.2	+	1	171	c.43C>T	c.(43-45)Cct>Tct	p.P15S	CHRNB3_ENST00000531610.1_3'UTR	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	15					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCTTGGCATCCCTTCCTCAGG	0.388000													18	8					0	0	0.012319	0	0
GRM6	2916	broad.mit.edu	37	5	178415971	178415971	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:178415971A>G	ENST00000231188.5	-	6	1497	c.1319T>C	c.(1318-1320)aTg>aCg	p.M440T	GRM6_ENST00000517717.1_Missense_Mutation_p.M440T|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	440					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)		CTGCAGAAGCATCCGCCCATC	0.642000													6	23					0	0	0.001168	0	0
CAB39L	81617	broad.mit.edu	37	13	49906098	49906098	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:49906098G>A	ENST00000355854.4	-	8	1316	c.819C>T	c.(817-819)gcC>gcT	p.A273A	CAB39L_ENST00000409130.1_Silent_p.A129A|CAB39L_ENST00000347776.5_Silent_p.A273A|CAB39L_ENST00000410043.1_Silent_p.A273A|CAB39L_ENST00000409308.1_Silent_p.A273A	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	273					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AAACATGAAAGGCTTCAAACT	0.403000													38	67					0	0	0.008740	0	0
ACIN1	22985	broad.mit.edu	37	14	23551020	23551020	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:23551020C>T	ENST00000262710.1	-	5	963	c.636G>A	c.(634-636)gaG>gaA	p.E212E	ACIN1_ENST00000457657.1_Silent_p.E172E|ACIN1_ENST00000555053.1_Silent_p.E212E|ACIN1_ENST00000605057.1_Silent_p.E154E	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	212	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGTCACCTTTCTCTTCAGAAA	0.383000													39	39					0	0	0.011902	0	0
IL4R	3566	broad.mit.edu	37	16	27374571	27374571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:27374571C>T	ENST00000395762.2	+	11	2157	c.1898C>T	c.(1897-1899)cCt>cTt	p.P633L	IL4R_ENST00000170630.2_Missense_Mutation_p.P633L|IL4R_ENST00000543915.2_Missense_Mutation_p.P633L|IL4R_ENST00000380922.3_Missense_Mutation_p.P618L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	633	Required for IL4-induced gene expression.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGGTATAAGCCTTTCCAAGAC	0.602000													28	31					0	0	0.007291	0	0
RNF183	138065	broad.mit.edu	37	9	116060359	116060359	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:116060359A>C	ENST00000478815.1	-	1	1686	c.106T>G	c.(106-108)Ttc>Gtc	p.F36V	RNF183_ENST00000416588.2_Missense_Mutation_p.F36V|RNF183_ENST00000297894.5_Missense_Mutation_p.F36V|RNF183_ENST00000441031.3_Missense_Mutation_p.F36V			Q96D59	RN183_HUMAN	ring finger protein 183	36						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						TCCACGCAGAAGGAGTGGCAG	0.637000													26	13					0	0	0.003954	0	0
ARAP2	116984	broad.mit.edu	37	4	36216095	36216095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:36216095G>A	ENST00000303965.4	-	3	1402	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	305					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTTCTTTCACGGAAATAGCTT	0.274000													8	7					0	0	0.003080	0	0
UBE4A	9354	broad.mit.edu	37	11	118245820	118245820	+	Silent	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:118245820C>G	ENST00000252108.3	+	9	1457	c.1326C>G	c.(1324-1326)ctC>ctG	p.L442L	UBE4A_ENST00000431736.2_Silent_p.L449L	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	442					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GTGCTGCTCTCCTGAAGCTAT	0.473000													22	20					0	0	0.014323	0	0
CHD4	1108	broad.mit.edu	37	12	6709742	6709742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:6709742G>A	ENST00000309577.6	-	8	1184	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CHD4_ENST00000544484.1_Missense_Mutation_p.R338C|CHD4_ENST00000544040.1_Missense_Mutation_p.R334C|CHD4_ENST00000357008.2_Missense_Mutation_p.R341C			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	341					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTGCGGCTGCGGCTACTACGG	0.448000													17	47					0	0	0.010504	0	0
ALG3	10195	broad.mit.edu	37	3	183963094	183963094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:183963094G>A	ENST00000455059.1	-	4	831	c.377C>T	c.(376-378)tCc>tTc	p.S126F	ALG3_ENST00000397676.3_Missense_Mutation_p.S166F|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.S118F|ALG3_ENST00000418734.2_Missense_Mutation_p.S110F			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	166					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACAAAGATGGAGTGGACACG	0.557000													5	12					0	0	0.000602	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869145	36869145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:36869145G>A	ENST00000279024.4	-	3	1659	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	463										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGGCTCAGGGGAGGAGGTGTT	0.572000													20	36					0	0	0.012319	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883230	228883230	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:228883230C>T	ENST00000392056.3	-	7	2386	c.2340G>A	c.(2338-2340)acG>acA	p.T780T	SPHKAP_ENST00000344657.5_Silent_p.T780T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	780						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)		TGACAAGACTCGTGTTGTGTG	0.502000													62	39					0	0	0.014410	0	0
ORC1	4998	broad.mit.edu	37	1	52849539	52849539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:52849539C>T	ENST00000371568.3	-	12	2044	c.1826G>A	c.(1825-1827)gGg>gAg	p.G609E	ORC1_ENST00000371566.1_Missense_Mutation_p.G609E	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	609	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGAGGTGACCCTCGGGTGCA	0.542000													48	19					0	0	0.014410	0	0
LAMA1	284217	broad.mit.edu	37	18	6992673	6992673	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:6992673G>A	ENST00000389658.3	-	36	5148	c.5055C>T	c.(5053-5055)ttC>ttT	p.F1685F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1685	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGTAGTAGGAAATCTTCAT	0.353000													12	26					0	0	0.001855	0	0
ROCK2	9475	broad.mit.edu	37	2	11362253	11362253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:11362253G>A	ENST00000315872.6	-	8	1503	c.1055C>T	c.(1054-1056)cCt>cTt	p.P352L	ROCK2_ENST00000401753.1_Missense_Mutation_p.P109L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	352	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTTAAAGAAAGGATGCTGTCT	0.313000													39	62					0	0	0.014410	0	0
USP19	10869	broad.mit.edu	37	3	49149411	49149411	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49149411G>A	ENST00000453664.1	-	20	3118	c.2800C>T	c.(2800-2802)Ctg>Ttg	p.L934L	USP19_ENST00000417901.1_Silent_p.L946L|USP19_ENST00000434032.2_Silent_p.L944L|USP19_ENST00000398892.3_Silent_p.L883L|USP19_ENST00000398898.2_Silent_p.L883L|USP19_ENST00000398896.1_Silent_p.L651L|USP19_ENST00000398888.2_Silent_p.L843L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	843					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACACTGACCAGGAAGGGGTAG	0.587000													11	8					0	0	0.008291	0	0
AKAP6	9472	broad.mit.edu	37	14	33201778	33201778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:33201778C>T	ENST00000280979.4	+	10	3289	c.3119C>T	c.(3118-3120)tCa>tTa	p.S1040L	AKAP6_ENST00000557354.1_Missense_Mutation_p.S1040L|AKAP6_ENST00000557272.1_Missense_Mutation_p.S1040L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1040					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAGTGGATTCAATTAATGAA	0.373000													10	14					0	0	0.010729	0	0
PLA1A	51365	broad.mit.edu	37	3	119336889	119336889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:119336889C>T	ENST00000273371.4	+	7	850	c.778C>T	c.(778-780)Cac>Tac	p.H260Y	PLA1A_ENST00000495992.1_Missense_Mutation_p.H244Y|PLA1A_ENST00000494440.1_Missense_Mutation_p.H244Y|PLA1A_ENST00000488919.1_Missense_Mutation_p.H87Y	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	260					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	p.H260Y(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATCTGTGATCACATGAGGGC	0.463000													45	95					0	0	0.014410	0	0
IGSF10	285313	broad.mit.edu	37	3	151155510	151155510	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:151155510A>G	ENST00000282466.3	-	6	6838	c.6839T>C	c.(6838-6840)tTc>tCc	p.F2280S	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2280	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGCTGTGAGGAAAATATTGTC	0.428000													17	31					0	0	0.006122	0	0
FAM171B	165215	broad.mit.edu	37	2	187615976	187615976	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:187615976G>A	ENST00000304698.5	+	5	1043	c.840G>A	c.(838-840)ctG>ctA	p.L280L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	280						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTCTACGTCTGAATGATATAA	0.363000													36	8					0	0	0.013726	0	0
ARSJ	79642	broad.mit.edu	37	4	114824393	114824393	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:114824393G>A	ENST00000315366.7	-	2	1703	c.837C>T	c.(835-837)ttC>ttT	p.F279F	ARSJ_ENST00000541197.1_Silent_p.F279F	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	279						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GGTAGTGTTCGAAATACCTGC	0.413000													30	59					0	0	0.008361	0	0
LRP1B	53353	broad.mit.edu	37	2	141762937	141762937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:141762937G>A	ENST00000389484.3	-	15	3441	c.2470C>T	c.(2470-2472)Caa>Taa	p.Q824*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	824	EGF-like 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCAAAAGTTGATTATCGGCA	0.438000										TSP Lung(27;0.18)			5	3					0	0	0.000602	0	0
DNAH5	1767	broad.mit.edu	37	5	13807748	13807748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:13807748C>T	ENST00000265104.4	-	47	7943	c.7839G>A	c.(7837-7839)atG>atA	p.M2613I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2613	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACTCTTGATCATGTGACATT	0.383000									Kartagener syndrome				6	8					0	0	0.001168	0	0
P4HA1	5033	broad.mit.edu	37	10	74806745	74806745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:74806745G>A	ENST00000412021.2	-	9	1348	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	P4HA1_ENST00000263556.3_Missense_Mutation_p.R339C|P4HA1_ENST00000394890.2_Missense_Mutation_p.R339C|P4HA1_ENST00000440381.1_Missense_Mutation_p.R339C|P4HA1_ENST00000373008.2_Missense_Mutation_p.R339C|P4HA1_ENST00000307116.2_Missense_Mutation_p.R339C	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	339						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATGGAAGCGAATAATACGA	0.373000													33	33					0	0	0.003271	0	0
CNBD2	140894	broad.mit.edu	37	20	34572684	34572684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:34572684C>T	ENST00000373973.3	+	6	873	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	CNBD2_ENST00000538900.1_Missense_Mutation_p.R234W|CNBD2_ENST00000349339.1_Missense_Mutation_p.R234W					cyclic nucleotide binding domain containing 2																		TGCTCAGTATCGGTTTGAATT	0.448000													40	44					0	0	0.014410	0	0
MYO5B	4645	broad.mit.edu	37	18	47479693	47479693	+	Silent	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:47479693A>T	ENST00000285039.7	-	14	1988	c.1689T>A	c.(1687-1689)ggT>ggA	p.G563G		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	563	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTCCAGAAAACCATCAGAGA	0.493000													14	26					0	0	0.004007	0	0
NWD1	284434	broad.mit.edu	37	19	16860010	16860010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:16860010C>T	ENST00000524140.2	+	6	975	c.557C>T	c.(556-558)aCc>aTc	p.T186I	NWD1_ENST00000552788.1_Missense_Mutation_p.T186I|NWD1_ENST00000549814.1_Missense_Mutation_p.T186I|NWD1_ENST00000523826.1_5'UTR|NWD1_ENST00000379808.3_Missense_Mutation_p.T186I|NWD1_ENST00000339803.6_Missense_Mutation_p.T51I	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	186							ATP binding			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						CAGGGAGCCACCGTCTTCCTT	0.572000													25	21					0	0	0.003954	0	0
IDO1	3620	broad.mit.edu	37	8	39780118	39780118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:39780118G>A	ENST00000518237.1	+	6	1124	c.485G>A	c.(484-486)gGa>gAa	p.G162E	IDO1_ENST00000522495.1_Missense_Mutation_p.G162E|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	162					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TGCAGTAAAGGATTCTTCCTG	0.383000													14	2					0	0	0.007413	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679486	160679486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:160679486C>T	ENST00000366952.1	-	3	1722	c.241G>A	c.(241-243)Gac>Aac	p.D81N	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.D102N			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	102					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TCCACGCAGTCGAAGGTGCTC	0.672000													34	44					0	0	0.010818	0	0
CACNA1E	777	broad.mit.edu	37	1	181726184	181726184	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:181726184C>T	ENST00000526775.1	+	29	4359	c.4194C>T	c.(4192-4194)atC>atT	p.I1398I	CACNA1E_ENST00000367573.2_Silent_p.I1417I|CACNA1E_ENST00000367570.1_Silent_p.I1417I|CACNA1E_ENST00000360108.3_Silent_p.I1398I|CACNA1E_ENST00000358338.5_Silent_p.I1349I|CACNA1E_ENST00000367567.4_Silent_p.I1024I|CACNA1E_ENST00000357570.5_Silent_p.I1368I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1417					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGTCAATATCTTTGTGGCTC	0.468000													24	18					0	0	0.003330	0	0
MUC17	140453	broad.mit.edu	37	7	100686596	100686596	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:100686596A>G	ENST00000306151.4	+	3	11963	c.11899A>G	c.(11899-11901)Act>Gct	p.T3967A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3967						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)					CCCTGTGATAACTTCCACTGA	0.453000													37	45					0	0	0.006230	0	0
A2ML1	144568	broad.mit.edu	37	12	9009929	9009929	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:9009929G>A	ENST00000299698.7	+	24	3198	c.3018G>A	c.(3016-3018)ctG>ctA	p.L1006L	A2ML1_ENST00000539547.1_Silent_p.L515L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	850						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						TGGGTTTCCTGGAAATAGGTA	0.498000													24	81					0	0	0.003330	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324615	79324615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:79324615C>T	ENST00000428286.1	-	8	2698	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E859K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	859					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGAGCTGCTTCATTGTTTATC	0.458000													22	8					0	0	0.014323	0	0
DHX35	60625	broad.mit.edu	37	20	37601254	37601254	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:37601254T>C	ENST00000252011.3	+	3	260	c.227T>C	c.(226-228)gTt>gCt	p.V76A	DHX35_ENST00000373325.2_Missense_Mutation_p.V76A|DHX35_ENST00000373323.4_Intron	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	76	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GTGGTGATTGTTGGTGAAACA	0.348000													16	24					0	0	0.008871	0	0
CDR1	1038	broad.mit.edu	37	X	139866501	139866501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:139866501C>T	ENST00000370532.2	-	1	222	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	11	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GGTACGTCTTCCAGAAAATCC	0.423000													39	2					0	0	0.013114	0	0
FAM135B	51059	broad.mit.edu	37	8	139151271	139151271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:139151271C>T	ENST00000395297.1	-	18	4029	c.3859G>A	c.(3859-3861)Gat>Aat	p.D1287N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1287										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGCGCAAATCAGCATTATCC	0.428000										HNSCC(54;0.14)			40	20					0	0	0.014410	0	0
DRD3	1814	broad.mit.edu	37	3	113878668	113878668	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:113878668A>C	ENST00000383673.2	-	3	747	c.317T>G	c.(316-318)tTt>tGt	p.F106C	DRD3_ENST00000467632.1_Missense_Mutation_p.F106C|DRD3_ENST00000460779.1_Missense_Mutation_p.F106C|DRD3_ENST00000295881.7_Missense_Mutation_p.F106C	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	106					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CAGGGTGACAAAAACATCACA	0.498000													37	20					0	0	0.014410	0	0
FRAS1	80144	broad.mit.edu	37	4	79362352	79362352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:79362352C>T	ENST00000264895.6	+	41	6006	c.5566C>T	c.(5566-5568)Cat>Tat	p.H1856Y	FRAS1_ENST00000325942.6_Missense_Mutation_p.H1856Y	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1855					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTCATTTCACCATTTTTTTGC	0.418000													18	11					0	0	0.004990	0	0
OR1N2	138882	broad.mit.edu	37	9	125315497	125315497	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:125315497A>T	ENST00000373688.2	+	1	107	c.49A>T	c.(49-51)Aaa>Taa	p.K17*		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AGGGATGGGAAAACCAGGCAG	0.453000													13	28					0	0	0.002450	0	0
SLC6A11	6538	broad.mit.edu	37	3	10980004	10980004	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:10980004G>A	ENST00000254488.2	+	14	1881	c.1815G>A	c.(1813-1815)cgG>cgA	p.R605R		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	605					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.R605R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TGAGCCCACGGATGGTGACAG	0.557000													11	48					0	0	0.013537	0	0
ZNF595	152687	broad.mit.edu	37	4	59386	59386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:59386C>T	ENST00000509152.2	+	2	252	c.67C>T	c.(67-69)Cct>Tct	p.P23S	ZNF595_ENST00000526473.2_Missense_Mutation_p.P23S|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		ATGTCTGGACCCTGCCCAGCA	0.423000													42	279					0	0	0.010771	0	0
PATL1	219988	broad.mit.edu	37	11	59406624	59406624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:59406624G>A	ENST00000300146.9	-	18	2272	c.2188C>T	c.(2188-2190)Caa>Taa	p.Q730*	AP000442.1_ENST00000531108.1_RNA|AP000442.1_ENST00000531311.1_RNA	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	730	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						AGGGCTGCTTGGGGAATCCGC	0.453000													19	10					0	0	0.007413	0	0
PYGL	5836	broad.mit.edu	37	14	51382154	51382154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:51382154C>T	ENST00000216392.7	-	11	1635	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	PYGL_ENST00000532462.1_Missense_Mutation_p.E435K|PYGL_ENST00000544180.2_Missense_Mutation_p.E401K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	435					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TTGCTTCCTTCCTCTTCTATC	0.473000													40	3					0	0	0.011902	0	0
DAB2IP	153090	broad.mit.edu	37	9	124534923	124534923	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:124534923G>T	ENST00000408936.3	+	12	2298	c.2116G>T	c.(2116-2118)Gaa>Taa	p.E706*	DAB2IP_ENST00000309989.1_Nonsense_Mutation_p.E582*|DAB2IP_ENST00000259371.2_Nonsense_Mutation_p.E678*			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	706					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCCAACCCCCGAAAACAAGGA	0.537000													58	38					1.05635e-38	1.4243e-38	0.014410	1	0
C3	718	broad.mit.edu	37	19	6684839	6684839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:6684839C>T	ENST00000245907.6	-	31	4068	c.3976G>A	c.(3976-3978)Gaa>Aaa	p.E1326K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1326					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling 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)		CCCTCATTTTCCTTGGTCTGC	0.537000													55	74					0	0	0.014410	0	0
HS1BP3	64342	broad.mit.edu	37	2	20824492	20824492	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:20824492G>A	ENST00000304031.3	-	5	809	c.784_splice	c.e5+1	p.P262_splice		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	262					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTACTTACGGTCCACGGAT	0.617000													17	19					0	0	0.002780	0	0
CYP4A22	284541	broad.mit.edu	37	1	47606542	47606542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:47606542C>T	ENST00000371891.3	+	2	317	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R96C|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R96C	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	96						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGCAAAGTTCGTGTCCAGCT	0.502000													18	68					0	0	0.010504	0	0
ACTG2	72	broad.mit.edu	37	2	74135896	74135896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:74135896G>A	ENST00000409624.1	+	5	995	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ACTG2_ENST00000345517.3_Missense_Mutation_p.E118K|ACTG2_ENST00000409731.3_Missense_Mutation_p.E75K			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	118					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GGCCAACAGGGAAAAGATGAC	0.512000													9	17					0	0	0.008291	0	0
WRB	7485	broad.mit.edu	37	21	40762755	40762755	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:40762755G>A	ENST00000333781.5	+	2	375	c.234G>A	c.(232-234)aaG>aaA	p.K78K	WRB_ENST00000466787.1_3'UTR|WRB_ENST00000541890.1_Silent_p.K78K|WRB_ENST00000398753.1_Silent_p.K44K|WRB_ENST00000380708.1_Silent_p.K44K	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	78						integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				TGGAAAGAAAGATCAACAAGA	0.493000													11	16					0	0	0.013537	0	0
RGS22	26166	broad.mit.edu	37	8	101083691	101083691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:101083691G>A	ENST00000360863.6	-	6	694	c.500C>T	c.(499-501)cCc>cTc	p.P167L	RGS22_ENST00000523437.1_Missense_Mutation_p.P167L|RGS22_ENST00000523287.1_Intron	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	167					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CACGATCCAGGGAGAAAAATT	0.378000													21	15					0	0	0.010504	0	0
NHSL2	340527	broad.mit.edu	37	X	71360303	71360303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:71360303G>A	ENST00000373677.1	+	2	3069	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R	NHSL2_ENST00000540800.1_Missense_Mutation_p.G969R|NHSL2_ENST00000535692.1_Missense_Mutation_p.G603R|NHSL2_ENST00000510661.1_Missense_Mutation_p.G738R			F5H593	F5H593_HUMAN	NHS-like 2	969										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GCCTCCCCAGGGAAGTGTAGA	0.532000													9	0					0	0	0.004482	0	0
DNAH8	1769	broad.mit.edu	37	6	38899589	38899589	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:38899589G>A	ENST00000359357.3	+	74	10880	c.10626G>A	c.(10624-10626)gtG>gtA	p.V3542V	RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000441566.1_Silent_p.V3506V|DNAH8_ENST00000449981.2_Silent_p.V3759V|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8											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						TTATGTAGGTGAAAGTCGGTG	0.348000													25	102					0	0	0.004656	0	0
SPATA32	124783	broad.mit.edu	37	17	43333349	43333349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:43333349C>T	ENST00000543122.1	-	6	918	c.137G>A	c.(136-138)gGa>gAa	p.G46E	MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.G67E|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA					spermatogenesis associated 32																		CGGCACCTGTCCGATCTCCAG	0.562000													10	13					0	0	0.010729	0	0
PSG11	5680	broad.mit.edu	37	19	43528946	43528946	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:43528946G>A	ENST00000401740.1	-	2	430	c.327C>T	c.(325-327)atC>atT	p.I109I	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Silent_p.I109I|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	109	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGACATTCTGGATCAGCAGGG	0.433000													93	129					0	0	0.014410	0	0
GTF2H5	404672	broad.mit.edu	37	6	158613180	158613180	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:158613180C>T	ENST00000607778.1	+	3	285	c.207C>T	c.(205-207)acC>acT	p.T69T		NM_207118.2	NP_997001.1	Q6ZYL4	TF2H5_HUMAN	general transcription factor IIH, polypeptide 5	69					nucleotide-excision repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding						Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;5.98e-18)|BRCA - Breast invasive adenocarcinoma(81;2.83e-05)		TTTCCCTTACCCAGAAATGAA	0.388000								Nucleotide excision repair (NER)					15	15					0	0	0.004990	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43474071	43474071	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:43474071G>A	ENST00000532038.1	-	11	1506	c.1371C>T	c.(1369-1371)ccC>ccT	p.P457P	ARHGAP27_ENST00000532891.2_Silent_p.P657P|ARHGAP27_ENST00000455881.1_Silent_p.P338P|ARHGAP27_ENST00000376922.2_Silent_p.P338P|ARHGAP27_ENST00000528384.1_Silent_p.P311P|ARHGAP27_ENST00000428638.1_Silent_p.P679P|ARHGAP27_ENST00000442348.1_Silent_p.P652P			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	679					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ACTGCAGTGTGGGCCGCCTCT	0.731000													30	24					0	0	0.003271	0	0
GOT2	2806	broad.mit.edu	37	16	58768098	58768098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:58768098C>T	ENST00000245206.5	-	1	163	c.35G>A	c.(34-36)gGg>gAg	p.G12E	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.G12E	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	12					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGCGGCGATCCCGGGGAGGAC	0.726000													12	0					0	0	0.002450	0	0
MED13	9969	broad.mit.edu	37	17	60062025	60062025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:60062025G>A	ENST00000397786.2	-	14	2754	c.2678C>T	c.(2677-2679)cCt>cTt	p.P893L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	893					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AATTTCAGAAGGTTTGGGGCT	0.308000													22	22					0	0	0.003330	0	0
GFRAL	389400	broad.mit.edu	37	6	55223891	55223891	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:55223891T>C	ENST00000340465.2	+	6	993	c.907T>C	c.(907-909)Ttg>Ctg	p.L303L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	303						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGAGGAATCTTTGTGTAAGAT	0.373000													11	5					0	0	0.008291	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723499	7723499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:7723499G>A	ENST00000303635.7	+	9	1099	c.892G>A	c.(892-894)Ggg>Agg	p.G298R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G298R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGGGGGGTACGGGAGCCACTC	0.637000			T	WWTR1	epitheliod hemangioendothelioma								29	98					0	0	0.010818	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008632	88008632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:88008632G>A	ENST00000276127.4	+	3	476	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	CPXCR1_ENST00000373111.1_Missense_Mutation_p.E73K	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	73						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CAGCGAGCTCGAAACAGAGAT	0.453000													17	0					0	0	0.004990	0	0
CHD6	84181	broad.mit.edu	37	20	40045287	40045287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:40045287G>A	ENST00000373233.3	-	33	6604	c.6427C>T	c.(6427-6429)Ccg>Tcg	p.P2143S		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2143					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCTGCTTCCGGCTCTGAGAGG	0.577000													53	48					0	0	0.014410	0	0
ARGFX	503582	broad.mit.edu	37	3	121305435	121305435	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:121305435G>A	ENST00000334384.3	+	4	946	c.936G>A	c.(934-936)ttG>ttA	p.L312L		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	312						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TGGTAGACTTGGGATTTCTCT	0.398000													26	18					0	0	0.009535	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885859	180885859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:180885859C>T	ENST00000367588.4	+	2	675	c.620C>T	c.(619-621)tCt>tTt	p.S207F		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	207										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGGCCCAGCTCTTTGCAACAG	0.602000													79	31					0	0	0.014410	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703971	48703971	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:48703971C>T	ENST00000352832.5	+	34	6984	c.6612C>T	c.(6610-6612)ctC>ctT	p.L2204L	CACNA1G_ENST00000510366.1_Silent_p.L2186L|CACNA1G_ENST00000513689.2_Silent_p.L2241L|CACNA1G_ENST00000515411.1_Silent_p.L2268L|CACNA1G_ENST00000360761.4_Silent_p.L2215L|CACNA1G_ENST00000515765.1_Silent_p.L2275L|CACNA1G_ENST00000359106.5_Silent_p.L2331L|CACNA1G_ENST00000515165.1_Silent_p.L2238L|CACNA1G_ENST00000502264.1_Silent_p.L2260L|CACNA1G_ENST00000510115.1_Silent_p.L2252L|CACNA1G_ENST00000429973.2_Silent_p.L2220L|CACNA1G_ENST00000514717.1_Silent_p.L2181L|CACNA1G_ENST00000507896.1_Silent_p.L2148L|CACNA1G_ENST00000358244.5_Silent_p.L2125L|CACNA1G_ENST00000507510.2_Silent_p.L2286L|CACNA1G_ENST00000513964.1_Silent_p.L2193L|CACNA1G_ENST00000507336.1_Silent_p.L2320L|CACNA1G_ENST00000514181.1_Silent_p.L2213L|CACNA1G_ENST00000507609.1_Silent_p.L2231L|CACNA1G_ENST00000512389.1_Silent_p.L2227L|CACNA1G_ENST00000503485.1_Silent_p.L2204L|CACNA1G_ENST00000514079.1_Silent_p.L2245L|CACNA1G_ENST00000505165.1_Silent_p.L2159L|CACNA1G_ENST00000442258.2_Silent_p.L2197L|CACNA1G_ENST00000354983.4_Silent_p.L2297L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2331					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTATCTGCCTCCGGAGGAGGG	0.647000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	14					0	0	0.003080	0	0
DNM1L	10059	broad.mit.edu	37	12	32893025	32893025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:32893025G>A	ENST00000452533.2	+	16	1821	c.1657G>A	c.(1657-1659)Gat>Aat	p.D553N	DNM1L_ENST00000547312.1_Missense_Mutation_p.D568N|DNM1L_ENST00000266481.6_Missense_Mutation_p.D542N|DNM1L_ENST00000381000.4_Missense_Mutation_p.D581N|DNM1L_ENST00000358214.5_Missense_Mutation_p.D555N|DNM1L_ENST00000414834.2_Missense_Mutation_p.D376N|DNM1L_ENST00000553257.1_Missense_Mutation_p.D592N|DNM1L_ENST00000549701.1_Missense_Mutation_p.D579N|YARS2_ENST00000551673.1_Intron	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	579	B domain.|Interaction with GSK3B.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGGGTTGGAGATGGTGTTCA	0.383000													20	10					0	0	0.010504	0	0
SON	6651	broad.mit.edu	37	21	34945679	34945679	+	Silent	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:34945679C>G	ENST00000356577.4	+	9	7426	c.6951C>G	c.(6949-6951)ggC>ggG	p.G2317G	SON_ENST00000381692.2_Silent_p.G345G|AP000304.2_ENST00000439593.1_RNA|SON_ENST00000470533.1_3'UTR|SON_ENST00000290239.6_3'UTR	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	2317	G-patch.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAAAAATGGGCTGGAGAGAAG	0.408000													16	30					0	0	0.004007	0	0
NLRP7	199713	broad.mit.edu	37	19	55451374	55451374	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55451374C>T	ENST00000446217.1	-	6	1299	c.897G>A	c.(895-897)ggG>ggA	p.G299G	NLRP7_ENST00000340844.2_Silent_p.G271G|NLRP7_ENST00000328092.5_Silent_p.G271G|NLRP7_ENST00000448121.2_Silent_p.G271G|NLRP7_ENST00000588756.1_Silent_p.G271G|NLRP7_ENST00000590030.1_Silent_p.G271G|NLRP7_ENST00000592784.1_Silent_p.G271G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	271	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCTCCCAGTCCCCGCAGATGT	0.602000													23	40					0	0	0.003330	0	0
PCLO	27445	broad.mit.edu	37	7	82585290	82585290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:82585290C>T	ENST00000423517.2	-	5	5316	c.4979G>A	c.(4978-4980)gGa>gAa	p.G1660E	PCLO_ENST00000333891.8_Missense_Mutation_p.G1660E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1591					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						CCCTCCTCCTCCAGTAACTAC	0.368000													31	29					0	0	0.007291	0	0
DCDC1	341019	broad.mit.edu	37	11	30902714	30902714	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:30902714T>C	ENST00000597505.1	-	35	5214	c.5215A>G	c.(5215-5217)Acc>Gcc	p.T1739A				P59894	DCDC1_HUMAN	doublecortin domain containing 1	245					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTTTTGGGGTTTTGAAACCA	0.423000													7	5					0	0	0.001984	0	0
CMYA5	202333	broad.mit.edu	37	5	79057666	79057666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:79057666G>A	ENST00000446378.2	+	8	11324	c.11293G>A	c.(11293-11295)Gaa>Aaa	p.E3765K	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3765	Amphipathic helix H3.|Fibronectin type-III 1.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GACAGTGAAAGAAAGCTACTG	0.408000													6	15					0	0	0.004482	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374676	8374676	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:8374676G>A	ENST00000538603.1	-	7	1695	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	FAM90A1_ENST00000307435.6_Silent_p.S379S	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	379							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CTGGGTGATGGGACATGGTGC	0.672000													15	19					0	0	0.004990	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535251	96535251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:96535251C>T	ENST00000371321.3	+	3	518	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	146					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)	GGACCGTGTTCAAGAGGAAGC	0.517000													40	50					0	0	0.014410	0	0
TPSG1	25823	broad.mit.edu	37	16	1272880	1272880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:1272880C>T	ENST00000234798.4	-	4	287	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	95	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				ATCTCCAGTTCCCCCAGGTGC	0.657000													12	14					0	0	0.001855	0	0
PIM2	11040	broad.mit.edu	37	X	48772546	48772546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:48772546G>A	ENST00000376509.4	-	4	535	c.346C>T	c.(346-348)Ctc>Ttc	p.L116F		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	116	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						GGCCGCTCGAGGACCAGCATG	0.597000													8	0					0	0	0.006214	0	0
SETBP1	26040	broad.mit.edu	37	18	42530104	42530104	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:42530104A>G	ENST00000282030.5	+	4	1095	c.799A>G	c.(799-801)Aaa>Gaa	p.K267E		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	267						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCAGGGTAAGAAAGGCAGTGC	0.542000									Schinzel-Giedion syndrome				17	37					0	0	0.008871	0	0
LHCGR	3973	broad.mit.edu	37	2	48958396	48958396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:48958396G>A	ENST00000294954.7	-	2	224	c.203C>T	c.(202-204)gCt>gTt	p.A68V	LHCGR_ENST00000401907.1_Missense_Mutation_p.A68V|LHCGR_ENST00000403273.1_Missense_Mutation_p.A68V|LHCGR_ENST00000344775.3_Missense_Mutation_p.A68V|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.A68V	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	68				A -> S (in Ref. 3; AAA70231).	male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TCCTCTGAAAGCTTGAGATGG	0.333000													16	31					0	0	0.010504	0	0
SURF6	6838	broad.mit.edu	37	9	136199027	136199027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:136199027C>T	ENST00000372022.4	-	5	1029	c.764G>A	c.(763-765)gGc>gAc	p.G255D	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	255						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CTCATCCTGGCCGCGCAGCTC	0.667000													22	71					0	0	0.008361	0	0
FGGY	55277	broad.mit.edu	37	1	60133042	60133042	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:60133042C>A	ENST00000371218.4	+	14	1640	c.1456C>A	c.(1456-1458)Ccc>Acc	p.P486T	FGGY_ENST00000371210.1_Missense_Mutation_p.P163T|FGGY_ENST00000303721.7_Missense_Mutation_p.P462T|FGGY_ENST00000371212.1_Missense_Mutation_p.P374T	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	462					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CAGCAAGAATCCCCTTTTTGT	0.478000													93	39					3.67945e-35	4.95774e-35	0.014410	1	0
DSG1	1828	broad.mit.edu	37	18	28935179	28935179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:28935179G>A	ENST00000257192.4	+	15	3232	c.3020G>A	c.(3019-3021)gGa>gAa	p.G1007E	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G366E|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	1007	Gly/Ser-rich.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.G1007V(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGCAGCTTGGGAGGGACAGCC	0.587000													15	27					0	0	0.002450	0	0
SLC4A10	57282	broad.mit.edu	37	2	162719562	162719562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:162719562G>A	ENST00000375514.5	+	7	1076	c.789G>A	c.(787-789)atG>atA	p.M263I	SLC4A10_ENST00000421911.1_Missense_Mutation_p.M252I|SLC4A10_ENST00000446997.1_Missense_Mutation_p.M252I|SLC4A10_ENST00000272716.5_Missense_Mutation_p.M252I|SLC4A10_ENST00000415876.2_Missense_Mutation_p.M252I|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Missense_Mutation_p.M252I	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	252					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAAATTCCATGGACAAAAATG	0.338000													7	20					0	0	0.004482	0	0
LILRA2	11027	broad.mit.edu	37	19	55086445	55086445	+	Silent	SNP	G	G	A	rs141931276		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55086445G>A	ENST00000251377.3	+	5	733	c.600G>A	c.(598-600)tcG>tcA	p.S200S	LILRA2_ENST00000251376.3_Silent_p.S200S|LILRA2_ENST00000391737.1_Silent_p.S188S|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.S200S					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CTTATGACTCGAACTCTCCCT	0.577000													60	93					0	0	0.014410	0	0
PSD4	23550	broad.mit.edu	37	2	113942555	113942555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:113942555C>T	ENST00000245796.6	+	3	1273	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S	PSD4_ENST00000441564.2_Missense_Mutation_p.P360S	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	360					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTCCTGCTCCATCTgcagc	0.547000													82	64					0	0	0.014410	0	0
TRBV28	28559	broad.mit.edu	37	7	142428886	142428886	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:142428886G>A	ENST00000390400.2	+	0	266																											TTCCTGAGGGGTACAGTGTCT	0.458000													17	14					0	0	0.004990	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60990934	60990934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:60990934G>A	ENST00000252998.1	-	7	610	c.454C>T	c.(454-456)Cct>Tct	p.P152S		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		CAGCCACCAGGGGAGGGGAGC	0.697000													8	7					0	0	0.004482	0	0
PSG9	5678	broad.mit.edu	37	19	43762177	43762177	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:43762177A>T	ENST00000244293.7	-	4	1207	c.1141T>A	c.(1141-1143)Ttc>Atc	p.F381I	PSG9_ENST00000270077.3_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000596730.1_Missense_Mutation_p.F288I			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	0	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGAAAACAGAAAAACAAGGAG	0.488000													4	4					0	0	0.009096	0	0
SPOCK2	9806	broad.mit.edu	37	10	73822656	73822656	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:73822656G>A	ENST00000373109.2	-	11	1581	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	SPOCK2_ENST00000317376.4_Silent_p.I379I|SPOCK2_ENST00000536168.1_Silent_p.I379I	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	379					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGAAGCCCACGATGTCATCTG	0.672000													6	8					0	0	0.003080	0	0
PTPRK	5796	broad.mit.edu	37	6	128297830	128297830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:128297830C>T	ENST00000368227.3	-	28	4358	c.3992G>A	c.(3991-3993)cGg>cAg	p.R1331Q	PTPRK_ENST00000368207.3_Missense_Mutation_p.R1346Q|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1313Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1320Q|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1314Q|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1336Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1332Q			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1313	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCTAAAAATCCGGTTGATCAC	0.428000													6	9					0	0	0.001984	0	0
USP6	9098	broad.mit.edu	37	17	5051934	5051934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:5051934G>A	ENST00000574788.1	+	30	4745	c.2515G>A	c.(2515-2517)Gga>Aga	p.G839R	USP6_ENST00000304328.5_Missense_Mutation_p.G522R|USP6_ENST00000250066.6_Missense_Mutation_p.G839R|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	839					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CATCCCCAATGGAATGCCAAA	0.428000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								42	31					0	0	0.014410	0	0
ITGA7	3679	broad.mit.edu	37	12	56094755	56094755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:56094755C>T	ENST00000257880.7	-	4	817	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	ITGA7_ENST00000347027.6_Missense_Mutation_p.G200S|ITGA7_ENST00000394229.2_Missense_Mutation_p.G200S|ITGA7_ENST00000394230.2_Missense_Mutation_p.G200S|ITGA7_ENST00000452168.2_Missense_Mutation_p.G103S|ITGA7_ENST00000257879.6_Missense_Mutation_p.G200S|ITGA7_ENST00000555728.1_Missense_Mutation_p.G200S|ITGA7_ENST00000553804.1_Missense_Mutation_p.G200S			Q13683	ITA7_HUMAN	integrin, alpha 7	200					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCAGCTGTGCCCTGCTGGCAG	0.592000													19	6					0	0	0.012319	0	0
C4orf46	201725	broad.mit.edu	37	4	159592866	159592866	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:159592866A>C	ENST00000379205.4	-	1	332	c.88T>G	c.(88-90)Tcc>Gcc	p.S30A	C4orf46_ENST00000508457.1_Missense_Mutation_p.S30A|C4orf46_ENST00000508836.1_Intron	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	30										kidney(1)|lung(3)|skin(1)	5						CCGCCCGGGGAAGATGCTGCA	0.662000													11	4					0	0	0.013537	0	0
PPM1L	151742	broad.mit.edu	37	3	160783336	160783336	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:160783336G>A	ENST00000498165.1	+	3	821	c.720G>A	c.(718-720)aaG>aaA	p.K240K	PPM1L_ENST00000464260.1_Silent_p.K61K|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Silent_p.K113K	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	240	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGGAAAGAAAGAGGATAAAGA	0.502000													8	9					0	0	0.004482	0	0
BACE1	23621	broad.mit.edu	37	11	117161341	117161341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:117161341G>A	ENST00000313005.6	-	8	1587	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	BACE1_ENST00000392937.6_Missense_Mutation_p.S276F|BACE1_ENST00000528053.1_Missense_Mutation_p.S342F|BACE1_ENST00000513780.1_Missense_Mutation_p.S351F|BACE1_ENST00000510630.1_Missense_Mutation_p.S251F|BACE1_ENST00000428381.2_Missense_Mutation_p.S307F|BACE1_ENST00000445823.2_Missense_Mutation_p.S332F	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	376					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GTCGTCTTGGGACGTGGCCAC	0.532000													10	15					0	0	0.008291	0	0
ASXL3	80816	broad.mit.edu	37	18	31324895	31324895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:31324895G>A	ENST00000269197.5	+	12	5083	c.5083G>A	c.(5083-5085)Gct>Act	p.A1695T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1695					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCCTCCTCCGGCTGCAGAGGG	0.502000													14	39					0	0	0.006122	0	0
PDZD4	57595	broad.mit.edu	37	X	153073943	153073943	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:153073943G>A	ENST00000164640.4	-	2	359	c.168C>T	c.(166-168)ctC>ctT	p.L56L	PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	56						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCCCCCCGGAGGCGGGGGC	0.647000													14	0					0	0	0.002450	0	0
MYOM3	127294	broad.mit.edu	37	1	24434503	24434503	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:24434503C>T	ENST00000330966.7	-	3	387	c.225G>A	c.(223-225)acG>acA	p.T75T	MYOM3_ENST00000374434.3_Silent_p.T74T|MYOM3_ENST00000329601.7_Silent_p.T74T|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	74										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CGGAGGAGGCCGTCAGAGCCA	0.637000													32	17					0	0	0.007835	0	0
GLI2	2736	broad.mit.edu	37	2	121747404	121747404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:121747404C>T	ENST00000452319.1	+	14	3974	c.3914C>T	c.(3913-3915)cCc>cTc	p.P1305L	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1305L			P10070	GLI2_HUMAN	GLI family zinc finger 2	1305					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTTGGGGTCCCCGATTCAGCC	0.637000													6	7					0	0	0.001984	0	0
DENND4C	55667	broad.mit.edu	37	9	19316414	19316414	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:19316414G>A	ENST00000307015.9	+	7	812		c.e7-1		DENND4C_ENST00000380432.2_Splice_Site|DENND4C_ENST00000434457.2_Splice_Site|DENND4C_ENST00000602925.1_Splice_Site			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C							integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGATTTAATAGATCAGATGAA	0.323000													4	15					0	0	0.009096	0	0
LAMA2	3908	broad.mit.edu	37	6	129774192	129774192	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:129774192G>A	ENST00000421865.2	+	46	6538	c.6489G>A	c.(6487-6489)aaG>aaA	p.K2163K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2163	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGAAATCAAGAAAGGAAGTT	0.338000													12	11					0	0	0.013537	0	0
BRCA1	672	broad.mit.edu	37	17	41247929	41247929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:41247929G>A	ENST00000357654.3	-	9	722	c.604C>T	c.(604-606)Caa>Taa	p.Q202*	BRCA1_ENST00000471181.2_Nonsense_Mutation_p.Q202*|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Nonsense_Mutation_p.Q202*|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.Q202*|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.Q202*|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.Q155*|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Nonsense_Mutation_p.Q202*|BRCA1_ENST00000468300.1_Nonsense_Mutation_p.Q202*	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	202					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AACAATTCTTGATCTCCCACA	0.388000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			8	12					0	0	0.006214	0	0
IFITM3	10410	broad.mit.edu	37	11	320715	320715	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:320715C>T	ENST00000399808.4	-	1	335	c.99G>A	c.(97-99)ggG>ggA	p.G33G	IFITM3_ENST00000602735.1_Silent_p.G12G|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Silent_p.G12G	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	33					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTGGGGCGCCCCCAGCACAG	0.612000													50	25					0	0	0.014410	0	0
AIM1	202	broad.mit.edu	37	6	106967388	106967388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:106967388G>A	ENST00000369066.3	+	2	1568	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	361							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGAATGAATGGAGACTCTTC	0.463000													32	39					0	0	0.010818	0	0
GLIS1	148979	broad.mit.edu	37	1	54060103	54060103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:54060103C>T	ENST00000312233.2	-	3	1039	c.473G>A	c.(472-474)gGg>gAg	p.G158E		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	158					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTGGTGAGGCCCAAAGAGCTC	0.657000													19	4					0	0	0.008871	0	0
USP38	84640	broad.mit.edu	37	4	144135130	144135130	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:144135130C>T	ENST00000307017.4	+	9	2507	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	USP38_ENST00000510377.1_Silent_p.F667F	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	667					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CAGCTGCCTTCATCTGTGACT	0.423000													79	43					0	0	0.014410	0	0
CATSPERB	79820	broad.mit.edu	37	14	92189404	92189404	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:92189404T>C	ENST00000256343.3	-	4	454	c.298A>G	c.(298-300)Aat>Gat	p.N100D		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	100					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				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)				AACGTTAAATTAAAGTGGAAG	0.328000													25	25					0	0	0.008361	0	0
ESPL1	9700	broad.mit.edu	37	12	53677305	53677305	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:53677305G>A	ENST00000257934.4	+	16	3151	c.3060G>A	c.(3058-3060)aaG>aaA	p.K1020K	ESPL1_ENST00000552462.1_Silent_p.K1020K	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1020					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TTACAACAAAGCTGCAGATAC	0.532000													57	26					0	0	0.014410	0	0
TARBP1	6894	broad.mit.edu	37	1	234527374	234527374	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:234527374G>A	ENST00000040877.1	-	30	4814	c.4815C>T	c.(4813-4815)atC>atT	p.I1605I	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1605					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TGTACTCCCAGATCAGCAGGG	0.493000													8	29					0	0	0.006214	0	0
CXorf57	55086	broad.mit.edu	37	X	105876182	105876182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:105876182C>T	ENST00000372548.4	+	5	1218	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L	CXorf57_ENST00000372544.2_Missense_Mutation_p.P370L	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	370										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GATGATATGCCAGAAAATTGC	0.279000													47	1					0	0	0.014410	0	0
EXOC7	23265	broad.mit.edu	37	17	74079832	74079832	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:74079832C>T	ENST00000607838.1	-	20	2116		c.e20-1		EXOC7_ENST00000332065.5_Splice_Site|EXOC7_ENST00000335146.7_Splice_Site|EXOC7_ENST00000589210.1_Splice_Site|EXOC7_ENST00000405575.4_Splice_Site|EXOC7_ENST00000467929.2_Splice_Site|EXOC7_ENST00000411744.2_Splice_Site	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7						exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCTGCCAAACCTGAGGAGGCA	0.617000													11	18					0	0	0.004007	0	0
CHD4	1108	broad.mit.edu	37	12	6709743	6709743	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:6709743G>A	ENST00000309577.6	-	8	1183	c.1020C>T	c.(1018-1020)agC>agT	p.S340S	CHD4_ENST00000544484.1_Silent_p.S337S|CHD4_ENST00000544040.1_Silent_p.S333S|CHD4_ENST00000357008.2_Silent_p.S340S			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	340					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGCGGCTGCGGCTACTACGGC	0.453000													17	47					0	0	0.012319	0	0
NOS2	4843	broad.mit.edu	37	17	26090025	26090025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:26090025C>T	ENST00000313735.6	-	22	2832	c.2599G>A	c.(2599-2601)Gag>Aag	p.E867K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	867	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TTGCTGTACTCTGAGGGCTAA	0.542000													6	10					0	0	0.004482	0	0
FGG	2266	broad.mit.edu	37	4	155528082	155528082	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:155528082G>A	ENST00000404648.3	-	8	1143	c.904C>T	c.(904-906)Cta>Tta	p.L302L	FGG_ENST00000407946.1_Silent_p.L310L|FGG_ENST00000405164.1_Silent_p.L310L|FGG_ENST00000336098.3_Silent_p.L302L	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	302	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCATATGTTAGGCGGTACTTG	0.478000													8	64					0	0	0.004482	0	0
MASP1	5648	broad.mit.edu	37	3	186943152	186943152	+	Silent	SNP	G	G	A	rs147189329	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:186943152G>A	ENST00000337774.5	-	13	2090	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	567	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGGGCATCACGAAGGCATTCA	0.582000													19	38					0	0	0.014323	0	0
MYH13	8735	broad.mit.edu	37	17	10258090	10258090	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10258090C>T	ENST00000418404.3	-	10	1075	c.912G>A	c.(910-912)ctG>ctA	p.L304L	MYH13_ENST00000570743.1_Silent_p.L304L|MYH13_ENST00000252172.4_Silent_p.L304L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	304	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGTGGAGATCAGAAGCAGGT	0.468000													27	18					0	0	0.007291	0	0
TLR8	51311	broad.mit.edu	37	X	12939771	12939771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:12939771G>A	ENST00000218032.6	+	2	2699	c.2612G>A	c.(2611-2613)aGg>aAg	p.R871K	TLR8_ENST00000311912.5_Missense_Mutation_p.R889K	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	871					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAAGGCTACAGGTCTCTTTCC	0.418000													41	0					0	0	0.008740	0	0
BSN	8927	broad.mit.edu	37	3	49698344	49698344	+	Silent	SNP	C	C	T	rs140664989		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49698344C>T	ENST00000296452.4	+	6	9180	c.9066C>T	c.(9064-9066)ctC>ctT	p.L3022L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3022					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCTGCGGCTCCAGGGCTGCA	0.652000													19	15					0	0	0.010504	0	0
TRERF1	55809	broad.mit.edu	37	6	42233512	42233512	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:42233512G>A	ENST00000541110.1	-	6	2029	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	TRERF1_ENST00000354325.2_Silent_p.A487A|TRERF1_ENST00000372922.4_Silent_p.A487A|TRERF1_ENST00000340840.2_Silent_p.A487A|TRERF1_ENST00000372917.4_Silent_p.A487A			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	487	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACCCTGGCTGGGCTCTCCCAT	0.473000													11	1					0	0	0.010729	0	0
STX19	415117	broad.mit.edu	37	3	93733940	93733940	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:93733940C>T	ENST00000315099.2	-	2	430	c.174G>A	c.(172-174)caG>caA	p.Q58Q	ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000303097.7_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	58					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity	p.Q58H(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TAATACTTTCCTGTAGTTTTT	0.388000													24	41					0	0	0.003954	0	0
MYOCD	93649	broad.mit.edu	37	17	12656300	12656300	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:12656300C>T	ENST00000425538.1	+	10	1895	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	MYOCD_ENST00000395988.1_Silent_p.F469F|MYOCD_ENST00000343344.4_Silent_p.F565F	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	565					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CGCTGCCTTTCCTGGCTGCCT	0.532000													16	8					0	0	0.004990	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856232	62856232	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:62856232G>A	ENST00000584306.1	-	11	4562	c.4032C>T	c.(4030-4032)ttC>ttT	p.F1344F	LRRC37A3_ENST00000334962.5_Silent_p.F321F|LRRC37A3_ENST00000319651.5_Silent_p.F1344F|LRRC37A3_ENST00000339474.5_Silent_p.F462F|LRRC37A3_ENST00000400877.3_Silent_p.F382F	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1344						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCGCTGCAGAGAACGGAAGCC	0.463000													69	74					0	0	0.014410	0	0
EPPK1	83481	broad.mit.edu	37	8	144940397	144940397	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:144940397T>C	ENST00000525985.1	-	2	7096	c.7025A>G	c.(7024-7026)cAg>cGg	p.Q2342R				P58107	EPIPL_HUMAN	epiplakin 1	2342						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGGCGATCTGGGCCTCCAG	0.687000													19	179					0	0	0.010504	0	0
MUC16	94025	broad.mit.edu	37	19	9091160	9091160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9091160C>T	ENST00000397910.4	-	1	858	c.655G>A	c.(655-657)Gac>Aac	p.D219N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	219	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						GTATGTGAGTCAGTAACTGTG	0.438000													37	37					0	0	0.010771	0	0
SLC4A3	6508	broad.mit.edu	37	2	220505217	220505217	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:220505217C>T	ENST00000358055.3	+	21	3855	c.3343C>T	c.(3343-3345)Ctg>Ttg	p.L1115L	SLC4A3_ENST00000373760.2_Silent_p.L1115L|SLC4A3_ENST00000373762.3_Silent_p.L1142L|SLC4A3_ENST00000273063.6_Silent_p.L1142L|SLC4A3_ENST00000317151.3_Silent_p.L1115L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1115	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGATCTTCCTGTACATGGG	0.592000													22	56					0	0	0.003330	0	0
CACNA1C	775	broad.mit.edu	37	12	2622135	2622135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:2622135G>A	ENST00000399655.1	+	9	1640	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	CACNA1C_ENST00000399606.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E459K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E459K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E459K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E459K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E459K|CACNA1C_ENST00000480911.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E459K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E459K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E459K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	459					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CATGGATGAGGAGAAGCCCCG	0.552000													3	2					0	0	0.004672	0	0
SETD4	54093	broad.mit.edu	37	21	37418270	37418270	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:37418270G>A	ENST00000399215.1	-	5	1708	c.336C>T	c.(334-336)acC>acT	p.T112T	SETD4_ENST00000399207.1_Silent_p.T112T|SETD4_ENST00000399212.1_Silent_p.T88T|SETD4_ENST00000399201.1_Silent_p.T88T|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399208.2_Silent_p.T112T|SETD4_ENST00000399205.1_Silent_p.T88T|SETD4_ENST00000332131.4_Silent_p.T112T			Q9NVD3	SETD4_HUMAN	SET domain containing 4	112	SET.									autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						AAACTAAAAAGGTGCACAGCG	0.448000													38	47					0	0	0.010771	0	0
PCSK5	5125	broad.mit.edu	37	9	78794539	78794539	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:78794539T>C	ENST00000545128.1	+	15	2466	c.1928T>C	c.(1927-1929)gTt>gCt	p.V643A	PCSK5_ENST00000376752.4_Missense_Mutation_p.V643A	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	643	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCAGTGAGGTTGGCTGTGAC	0.458000													16	27					0	0	0.010504	0	0
DDX60	55601	broad.mit.edu	37	4	169183227	169183227	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:169183227T>A	ENST00000393743.3	-	24	3488	c.3197A>T	c.(3196-3198)aAg>aTg	p.K1066M	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1066							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGCATCCATCTTTTTAATGAC	0.328000													12	49					0	0	0.010729	0	0
PODN	127435	broad.mit.edu	37	1	53546449	53546449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:53546449C>T	ENST00000371500.3	+	11	1990	c.1649C>T	c.(1648-1650)cCc>cTc	p.P550L	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.P569L|PODN_ENST00000395871.2_Missense_Mutation_p.P427L	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	521					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGGGGCTCCCCGAGTCACTT	0.587000													6	29					0	0	0.001168	0	0
GPR139	124274	broad.mit.edu	37	16	20084858	20084858	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20084858G>A	ENST00000570682.1	-	1	381	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	27						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCACGGGCACGAAACCCAAGC	0.682000													4	9					0	0	0.001168	0	0
SLC9C1	285335	broad.mit.edu	37	3	111993810	111993810	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:111993810A>T	ENST00000305815.5	-	6	799	c.547T>A	c.(547-549)Tta>Ata	p.L183I	SLC9C1_ENST00000487372.1_Missense_Mutation_p.L183I	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	183					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AATGTAATTAATGATATAACA	0.299000													4	15					0	0	0.009096	0	0
HMGB2	3148	broad.mit.edu	37	4	174254256	174254256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:174254256C>T	ENST00000296503.5	-	3	1133	c.260G>A	c.(259-261)gGg>gAg	p.G87E	HMGB2_ENST00000438704.2_Missense_Mutation_p.G87E|HMGB2_ENST00000446922.2_Missense_Mutation_p.G87E			P26583	HMGB2_HUMAN	high mobility group box 2	87					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CTTTTTCTTCCCCTTCTTATC	0.403000													49	154					0	0	0.014410	0	0
TET1	80312	broad.mit.edu	37	10	70446175	70446175	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:70446175C>T	ENST00000373644.4	+	11	5324	c.5115C>T	c.(5113-5115)ctC>ctT	p.L1705L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1705					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATGAGCAGCTCCATGTGCTAC	0.453000													33	55					0	0	0.005524	0	0
PSMA5	5686	broad.mit.edu	37	1	109954795	109954795	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:109954795G>A	ENST00000271308.4	-	5	323	c.303C>T	c.(301-303)ttC>ttT	p.F101F	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Silent_p.F43F	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		CATTGTAGGTGAACCAGTGGT	0.468000													163	64					0	0	0.014410	0	0
LAMA2	3908	broad.mit.edu	37	6	129637191	129637191	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:129637191G>A	ENST00000421865.2	+	27	3982	c.3933G>A	c.(3931-3933)tgG>tgA	p.W1311*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1311	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGAAAGAATGGAAATATTATG	0.348000													14	20					0	0	0.001855	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22868950	22868950	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:22868950G>C	ENST00000283645.4	+	20	2952	c.2822G>C	c.(2821-2823)tGt>tCt	p.C941S	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.C941S	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	941					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CATGACCGGTGTCTGCTGAGA	0.458000													15	27					0	0	0.006122	0	0
GFI1B	8328	broad.mit.edu	37	9	135862081	135862081	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:135862081C>T	ENST00000339463.3	+	6	835	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	GFI1B_ENST00000372123.1_Silent_p.L6L|GFI1B_ENST00000372122.1_Silent_p.L6L|GFI1B_ENST00000372124.1_Silent_p.L6L|GFI1B_ENST00000450530.1_Silent_p.L6L|GFI1B_ENST00000534944.1_Silent_p.L6L			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	6	Mediates repression of transcription.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		ACGCTCCTTCCTGGTGAAGAG	0.592000													6	4					0	0	0.001984	0	0
BARX1	56033	broad.mit.edu	37	9	96715078	96715078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:96715078G>A	ENST00000253968.6	-	3	758	c.533C>T	c.(532-534)tCc>tTc	p.S178F	BARX1_ENST00000401724.1_Missense_Mutation_p.S24F	NM_021570.3	NP_067545.3	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	178						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)	1						CAGGCCCAGGGACTCAGCAAG	0.592000													10	13					0	0	0.010729	0	0
ATXN2L	11273	broad.mit.edu	37	16	28841346	28841346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:28841346G>A	ENST00000336783.4	+	8	1168	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	ATXN2L_ENST00000340394.8_Missense_Mutation_p.G334D|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G334D|ATXN2L_ENST00000395547.2_Missense_Mutation_p.G334D|ATXN2L_ENST00000382686.4_Missense_Mutation_p.G334D|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G334D|ATXN2L_ENST00000570200.1_Missense_Mutation_p.G334D	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	334						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CAGCGGCAGGGCTCAGGGCGG	0.612000													7	14					0	0	0.003080	0	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217429	53217429	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:53217429A>G	ENST00000342657.3	+	7	1875	c.802A>G	c.(802-804)Aat>Gat	p.N268D	HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.N268D|HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.N268D	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	268	Gly-rich.|Nuclear targeting sequence (By similarity).				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						CAATTACAACAATCAGTCTTC	0.448000													35	43					0	0	0.014410	0	0
SLC18A2	6571	broad.mit.edu	37	10	119012938	119012938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:119012938G>A	ENST00000298472.5	+	4	636	c.493G>A	c.(493-495)Gga>Aga	p.G165R	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	165					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CATATTTGCGGGATTCTGCAT	0.428000													71	85					0	0	0.014410	0	0
NLRP2	55655	broad.mit.edu	37	19	55494377	55494377	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55494377C>T	ENST00000543010.1	+	6	1454	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	NLRP2_ENST00000538819.1_Silent_p.F413F|NLRP2_ENST00000427260.2_Silent_p.F414F|NLRP2_ENST00000448584.2_Silent_p.F437F|NLRP2_ENST00000537859.1_Silent_p.F415F|NLRP2_ENST00000339757.7_Silent_p.F415F|NLRP2_ENST00000391721.4_Silent_p.F413F|NLRP2_ENST00000263437.6_Silent_p.F434F	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	437	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCAGCCGGTTCCCGCAGGGCG	0.701000													6	9					0	0	0.004482	0	0
OR2G6	391211	broad.mit.edu	37	1	248685273	248685273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:248685273C>T	ENST00000343414.4	+	1	358	c.326C>T	c.(325-327)tCg>tTg	p.S109L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S109L(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGTTGGGCTCGTCTGAGTGT	0.547000													23	77					0	0	0.003330	0	0
TBC1D31	93594	broad.mit.edu	37	8	124105884	124105884	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:124105884C>T	ENST00000287380.1	+	5	663	c.573C>T	c.(571-573)tcC>tcT	p.S191S	TBC1D31_ENST00000309336.3_Silent_p.S191S|TBC1D31_ENST00000521676.1_Silent_p.S86S|TBC1D31_ENST00000327098.5_Silent_p.S191S|TBC1D31_ENST00000378080.2_Silent_p.S86S|TBC1D31_ENST00000522420.1_Silent_p.S86S	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		AAGATAATTCCATTTTTGCCT	0.353000													23	17					0	0	0.005443	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455635	187455635	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:187455635C>T	ENST00000307161.5	-	2	462	c.261G>A	c.(259-261)tcG>tcA	p.S87S	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	87					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TGTTAAATATCGACATCAGCA	0.507000													30	45					0	0	0.008361	0	0
ERC2	26059	broad.mit.edu	37	3	56468424	56468424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:56468424C>T	ENST00000288221.6	-	2	867	c.612G>A	c.(610-612)atG>atA	p.M204I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	204						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)		TGAGGACAGACATCCGCGCTG	0.458000													13	26					0	0	0.013537	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099723	142099723	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:142099723G>A	ENST00000390359.3	-	0	117																											TTGTACCTAGGGGACTGGGAG	0.463000													18	27					0	0	0.012319	0	0
SYNE1	23345	broad.mit.edu	37	6	152647528	152647528	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:152647528T>C	ENST00000367255.5	-	79	15797	c.15196A>G	c.(15196-15198)Acc>Gcc	p.T5066A	SYNE1_ENST00000423061.1_Missense_Mutation_p.T4995A|SYNE1_ENST00000448038.1_Missense_Mutation_p.T4995A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5066A|SYNE1_ENST00000341594.5_Missense_Mutation_p.T4813A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5066					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTTGCCGGTTGGCTTGATG	0.527000										HNSCC(10;0.0054)			35	42					0	0	0.013726	0	0
SOS2	6655	broad.mit.edu	37	14	50619857	50619857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:50619857G>A	ENST00000216373.5	-	13	2366	c.2092C>T	c.(2092-2094)Cat>Tat	p.H698Y	SOS2_ENST00000543680.1_Missense_Mutation_p.H665Y	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	698	N-terminal Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCATAAAAATGATGTTCAACC	0.303000													77	76					0	0	0.014410	0	0
FAM135B	51059	broad.mit.edu	37	8	139380195	139380195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:139380195G>A	ENST00000395297.1	-	2	202	c.32C>T	c.(31-33)tCg>tTg	p.S11L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	11								p.S11L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGCTCTACCGAAAACTCAAC	0.368000										HNSCC(54;0.14)			28	28					0	0	0.012213	0	0
CSMD2	114784	broad.mit.edu	37	1	34112395	34112395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:34112395C>T	ENST00000373381.4	-	29	4803	c.4627G>A	c.(4627-4629)Gac>Aac	p.D1543N	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.D416N	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1503	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCGTCCGTCGTAGATATGG	0.557000													12	3					0	0	0.013537	0	0
CREBL2	1389	broad.mit.edu	37	12	12788822	12788822	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:12788822C>T	ENST00000228865.2	+	2	408	c.127C>T	c.(127-129)Cga>Tga	p.R43*	CREBL2_ENST00000540224.1_3'UTR	NM_001310.2	NP_001301.1	O60519	CRBL2_HUMAN	cAMP responsive element binding protein-like 2	43					cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		ATGCCGAGCCCGAAAAAAGCT	0.463000													8	31					0	0	0.006214	0	0
ZRANB1	54764	broad.mit.edu	37	10	126672076	126672076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:126672076C>T	ENST00000359653.4	+	8	2098	c.1727C>T	c.(1726-1728)cCg>cTg	p.P576L		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	576	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGGAAAAGTCCGATTGCTCTG	0.473000													29	42					0	0	0.004289	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144373	35144373	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:35144373C>T	ENST00000436258.1	-	0	1693																											TGTGAAAAGCCAGCTATAAAA	0.308000													4	0					0	0	0.009096	0	0
TNC	3371	broad.mit.edu	37	9	117853079	117853079	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:117853079C>T	ENST00000350763.4	-	2	630	c.219G>A	c.(217-219)ggG>ggA	p.G73G	TNC_ENST00000341037.4_Silent_p.G73G|TNC_ENST00000423613.2_Silent_p.G73G|TNC_ENST00000542877.1_Silent_p.G73G|TNC_ENST00000340094.3_Silent_p.G73G|TNC_ENST00000537320.1_Silent_p.G73G|TNC_ENST00000345230.3_Silent_p.G73G|TNC_ENST00000346706.3_Silent_p.G73G|TNC_ENST00000535648.1_Silent_p.G73G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	73					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGTCTTTCTCCCCACTGGCTG	0.542000													54	29					0	0	0.014410	0	0
MAN2B2	23324	broad.mit.edu	37	4	6596336	6596336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:6596336C>T	ENST00000285599.3	+	7	970	c.934C>T	c.(934-936)Cat>Tat	p.H312Y	MAN2B2_ENST00000504248.1_Intron	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	312					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CATCAACAGCCATGCTGCCGA	0.602000													12	7					0	0	0.001855	0	0
GRM8	2918	broad.mit.edu	37	7	126542627	126542627	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:126542627C>T	ENST00000339582.2	-	6	1933	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Silent_p.G375G|GRM8_ENST00000444921.2_Silent_p.G375G|GRM8_ENST00000358373.3_Silent_p.G375G			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	375					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGTTCCTTTTCCCATGTGATC	0.358000										HNSCC(24;0.065)			8	16					0	0	0.004482	0	0
C6orf222	389384	broad.mit.edu	37	6	36298049	36298049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:36298049C>T	ENST00000437635.2	-	2	596	c.419G>A	c.(418-420)gGg>gAg	p.G140E		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	140										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCTGGCTCCCCTGCTGCTTC	0.622000													33	33					0	0	0.003271	0	0
PTPN23	25930	broad.mit.edu	37	3	47453312	47453312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:47453312C>T	ENST00000265562.4	+	21	4005	c.3928C>T	c.(3928-3930)Ccc>Tcc	p.P1310S	PTPN23_ENST00000431726.1_Missense_Mutation_p.P1184S	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1310	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGGGCCAGCCCATGGTGCA	0.627000													25	13					0	0	0.008361	0	0
SELP	6403	broad.mit.edu	37	1	169586430	169586430	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:169586430G>C	ENST00000263686.6	-	3	354	c.317C>G	c.(316-318)aCc>aGc	p.T106S	SELP_ENST00000458599.2_Missense_Mutation_p.T106S|SELP_ENST00000367791.2_Missense_Mutation_p.T106S|SELP_ENST00000367786.2_Missense_Mutation_p.T106S|SELP_ENST00000367794.2_Missense_Mutation_p.T106S|SELP_ENST00000367792.2_Missense_Mutation_p.T106S|SELP_ENST00000367793.2_Missense_Mutation_p.T106S|SELP_ENST00000367788.2_Missense_Mutation_p.T106S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	106	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AGCCTTTTTGGTTCCCACCCA	0.443000													101	36					0	0	0.014410	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945753	16945753	+	RNA	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:16945753A>T	ENST00000412962.1	-	0	1766																											GCCCTGGAAAAGGGCACAACG	0.577000													6	22					0	0	0.013537	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73207294	73207294	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:73207294G>A	ENST00000545377.1	+	35	5018	c.4842G>A	c.(4840-4842)gtG>gtA	p.V1614V	ARHGEF28_ENST00000287898.5_Silent_p.V1570V|ARHGEF28_ENST00000512883.1_Silent_p.V534V|ARHGEF28_ENST00000513042.2_Silent_p.V1614V|ARHGEF28_ENST00000296794.6_Silent_p.V1614V|ARHGEF28_ENST00000437974.1_Silent_p.V1614V|ARHGEF28_ENST00000426542.2_Silent_p.V1614V|ARHGEF28_ENST00000296799.4_Silent_p.V1301V	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		ACCTCAAGGTGGACCCTTCTC	0.468000													9	21					0	0	0.006214	0	0
CPT1A	1374	broad.mit.edu	37	11	68525121	68525121	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:68525121G>A	ENST00000265641.5	-	19	2467	c.2313C>T	c.(2311-2313)tcC>tcT	p.S771S	CPT1A_ENST00000376618.2_Intron|CPT1A_ENST00000540367.1_Intron|CPT1A_ENST00000539743.1_Silent_p.S771S	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	771					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ATTACTTTTTGGAATTAGAAC	0.403000													18	26					0	0	0.010504	0	0
SERPINB9	5272	broad.mit.edu	37	6	2900775	2900775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:2900775G>A	ENST00000380698.4	-	2	160	c.71C>T	c.(70-72)cCt>cTt	p.P24L		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	24					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GTTGTGCGAAGGGTTATCTTG	0.493000													34	83					0	0	0.003755	0	0
FAM209B	388799	broad.mit.edu	37	20	55111444	55111444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:55111444C>T	ENST00000371325.1	+	2	562	c.466C>T	c.(466-468)Cca>Tca	p.P156S		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	156						integral to membrane											GCCTGCAGATCCATACCATGT	0.433000													29	34					0	0	0.007291	0	0
OR4C15	81309	broad.mit.edu	37	11	55322441	55322441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55322441C>T	ENST00000314644.2	+	1	659	c.659C>T	c.(658-660)cCc>cTc	p.P220L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTCCAGCTTCCCTTTTGTGGC	0.483000										HNSCC(20;0.049)			3	3					0	0	0.004672	0	0
TBC1D2	55357	broad.mit.edu	37	9	100995813	100995813	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:100995813G>A	ENST00000375066.5	-	4	757	c.666C>T	c.(664-666)atC>atT	p.I222I	TBC1D2_ENST00000375064.1_Silent_p.I222I|TBC1D2_ENST00000342112.5_Silent_p.I4I	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	222						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TGTTGCCACGGATGTTGTGCA	0.587000													48	28					0	0	0.014410	0	0
GCAT	23464	broad.mit.edu	37	22	38208991	38208991	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:38208991T>C	ENST00000323205.6	+	3	566	c.503T>C	c.(502-504)tTt>tCt	p.F168S	GCAT_ENST00000415371.1_3'UTR|GCAT_ENST00000248924.6_Missense_Mutation_p.F142S	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	142					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GCCGGCCTCTTTGAGGTGTGT	0.577000													27	34					0	0	0.009535	0	0
SEPW1	6415	broad.mit.edu	37	19	48284380	48284380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:48284380C>T	ENST00000601048.1	+	4	338	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	SEPW1_ENST00000593892.1_Missense_Mutation_p.P42S|SEPW1_ENST00000509570.2_Missense_Mutation_p.P43S|SEPW1_ENST00000595615.1_Missense_Mutation_p.P42S|SEPW1_ENST00000601419.1_3'UTR	NM_003009.2	NP_003000.1	P63302	SELW_HUMAN	selenoprotein W, 1	42					cell redox homeostasis	cytoplasm	selenium binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		all cancers(93;0.000291)|OV - Ovarian serous cystadenocarcinoma(262;0.000305)|Epithelial(262;0.0146)|GBM - Glioblastoma multiforme(486;0.0273)		CGAGGGAACTCCCCAGGCCAC	0.572000													54	102					0	0	0.014410	0	0
ITFG2	55846	broad.mit.edu	37	12	2932953	2932953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:2932953G>A	ENST00000228799.2	+	11	1223	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	ITFG2_ENST00000419778.2_Missense_Mutation_p.E185K|ITFG2_ENST00000542548.1_Missense_Mutation_p.E250K	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	362										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CGCCTGCAAAGAGGGCCGCAA	0.552000													104	76					0	0	0.014410	0	0
OR9I1	219954	broad.mit.edu	37	11	57886267	57886267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:57886267G>A	ENST00000302610.1	-	1	649	c.650C>T	c.(649-651)tCc>tTc	p.S217F	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GAGCAGATAGGAAATCAGGAT	0.473000													16	8					0	0	0.007413	0	0
CSTA	1475	broad.mit.edu	37	3	122044184	122044184	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:122044184A>C	ENST00000479204.1	+	1	76	c.45A>C	c.(43-45)gaA>gaC	p.E15D	CSTA_ENST00000264474.3_Missense_Mutation_p.E15D			P01040	CYTA_HUMAN	cystatin A (stefin A)	15					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		CCACTCCAGAAATCCAGGAGA	0.463000													18	12					0	0	0.003755	0	0
LPIN1	23175	broad.mit.edu	37	2	11913796	11913796	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:11913796A>G	ENST00000256720.2	+	5	740	c.647A>G	c.(646-648)aAc>aGc	p.N216S	LPIN1_ENST00000396099.1_Missense_Mutation_p.N222S|LPIN1_ENST00000396098.1_Missense_Mutation_p.N222S|LPIN1_ENST00000425416.2_Missense_Mutation_p.N222S|LPIN1_ENST00000449576.2_Missense_Mutation_p.N265S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	216					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CCTGAGGAAAACCTCTCCCTG	0.428000													59	72					0	0	0.014410	0	0
ACO2	50	broad.mit.edu	37	22	41919875	41919875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:41919875C>T	ENST00000396512.3	+	12	1504	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	ACO2_ENST00000216254.4_Missense_Mutation_p.S471F			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	471					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						ATCGTCACCTCCTACAACAGG	0.592000													12	31					0	0	0.002450	0	0
MYO18B	84700	broad.mit.edu	37	22	26165047	26165047	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:26165047C>T	ENST00000335473.7	+	4	1414	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	MYO18B_ENST00000407587.2_Silent_p.S388S|MYO18B_ENST00000536101.1_Silent_p.S388S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	388						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGTGAGTCCTGGGATAAGA	0.582000													6	7					0	0	0.001168	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328321	61328321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:61328321C>T	ENST00000283752.5	-	2	273	c.130G>A	c.(130-132)Gga>Aga	p.G44R	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.G44R	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	44					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTTTGGCTCCTAAGAGGACC	0.438000													6	8					0	0	0.001984	0	0
UBBP4	23666	broad.mit.edu	37	17	21731348	21731348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:21731348G>A	ENST00000584755.1	+	2	1047	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.R217Q(1)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AGAAGGAGTCGACCCTGCACC	0.547000													16	26					0	0	0.004007	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945754	16945754	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:16945754G>A	ENST00000412962.1	-	0	1765																											CCCTGGAAAAGGGCACAACGG	0.572000													6	21					0	0	0.010729	0	0
RBM38	55544	broad.mit.edu	37	20	55982669	55982669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:55982669C>T	ENST00000356208.5	+	4	662	c.487C>T	c.(487-489)Ccg>Tcg	p.P163S	RBM38_ENST00000440234.2_3'UTR|RBM38_ENST00000371219.2_Missense_Mutation_p.P82S	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	163					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CGCCCCTGTCCCGTCGCTGTC	0.677000													13	11					0	0	0.013537	0	0
DCC	1630	broad.mit.edu	37	18	50278588	50278588	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:50278588G>A	ENST00000412726.1	+	0	52				DCC_ENST00000442544.2_Missense_Mutation_p.D86N			P43146	DCC_HUMAN	deleted in colorectal carcinoma						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)		CTTGGGAATGGATGAAAGGAA	0.507000													30	23					0	0	0.005524	0	0
IGHM	3507	broad.mit.edu	37	14	106320631	106320631	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:106320631G>A	ENST00000390559.2	-	0	1178																											TGCTGTGGGCGAAGTACCGGC	0.647000													6	4					0	0	0.001168	0	0
LGI1	9211	broad.mit.edu	37	10	95556971	95556971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:95556971G>A	ENST00000371418.4	+	8	1345	c.1085G>A	c.(1084-1086)tGg>tAg	p.W362*	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Nonsense_Mutation_p.W314*	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	362					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ATTTACAAATGGAACGGAAAC	0.403000													17	28					0	0	0.007413	0	0
LAMA5	3911	broad.mit.edu	37	20	60895934	60895934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:60895934C>T	ENST00000252999.3	-	49	6575	c.6509G>A	c.(6508-6510)tGt>tAt	p.C2170Y		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2170	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGACCACACAGTGGTCACA	0.642000													25	31					0	0	0.009535	0	0
OR6M1	390261	broad.mit.edu	37	11	123676245	123676245	+	Silent	SNP	G	G	A	rs142482669		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:123676245G>A	ENST00000309154.2	-	1	850	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TGAGGACAGCGGCCACCTTGT	0.488000													10	12					0	0	0.008291	0	0
CDH17	1015	broad.mit.edu	37	8	95186484	95186484	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:95186484C>T	ENST00000027335.3	-	6	553	c.429G>A	c.(427-429)aaG>aaA	p.K143K	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.K143K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	143	Cadherin 2.					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)			ACAAGAAGGGCTTTCCTGTTT	0.398000													13	49					0	0	0.003163	0	0
CHRNA7	1139	broad.mit.edu	37	15	32450620	32450620	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:32450620C>T	ENST00000306901.3	+	7	703	c.606C>T	c.(604-606)ccC>ccT	p.P202P	CHRNA7_ENST00000455693.2_Silent_p.P21P|CHRNA7_ENST00000454250.3_Silent_p.P231P	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	202					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GAGGAATCCCCGGCAAGAGGA	0.493000													15	20					0	0	0.003954	0	0
KCNC3	3748	broad.mit.edu	37	19	50826961	50826961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50826961G>A	ENST00000376959.2	-	2	1412	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.R417C|KCNC3_ENST00000391818.2_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	417					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CGGACGAAGCGGACCACCCGC	0.657000													13	12					0	0	0.004007	0	0
MBD5	55777	broad.mit.edu	37	2	149226998	149226998	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:149226998A>G	ENST00000407073.1	+	9	2483	c.1486A>G	c.(1486-1488)Aca>Gca	p.T496A	MBD5_ENST00000404807.1_Missense_Mutation_p.T496A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	496						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACCAAGGTCAACAATAGGGTC	0.473000													18	10					0	0	0.014323	0	0
ADAD2	161931	broad.mit.edu	37	16	84229901	84229901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:84229901G>A	ENST00000268624.3	+	9	1790	c.1697G>A	c.(1696-1698)gGc>gAc	p.G566D	ADAD2_ENST00000315906.5_Missense_Mutation_p.G484D|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	484	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						ACCTGCCGTGGCCTGAGCCTC	0.706000													32	3					0	0	0.003271	0	0
SLK	9748	broad.mit.edu	37	10	105765698	105765698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:105765698C>T	ENST00000369755.3	+	11	3054	c.2509C>T	c.(2509-2511)Ctt>Ttt	p.L837F	SLK_ENST00000335753.4_Missense_Mutation_p.L837F	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	837					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATTAAGATTTCTTCAGAAAGA	0.358000													40	34					0	0	0.008740	0	0
LOXL3	84695	broad.mit.edu	37	2	74763571	74763571	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:74763571G>C	ENST00000264094.3	-	6	1011	c.940C>G	c.(940-942)Cac>Gac	p.H314D	LOXL3_ENST00000409249.1_Missense_Mutation_p.H314D|LOXL3_ENST00000409549.1_Missense_Mutation_p.H314D|LOXL3_ENST00000393937.2_Missense_Mutation_p.H169D|LOXL3_ENST00000409986.1_Missense_Mutation_p.H169D	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	314	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TCTCCAGGGTGGGCGCCGCCC	0.612000													8	9					0	0	0.004482	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798647	55798647	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55798647C>T	ENST00000313555.1	+	1	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCACCTTATTCTATGGAGCGC	0.458000													22	44					0	0	0.007291	0	0
NPAP1	23742	broad.mit.edu	37	15	24922625	24922625	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:24922625C>T	ENST00000329468.2	+	1	2085	c.1611C>T	c.(1609-1611)tcC>tcT	p.S537S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAGTCCCTTCCACCGGGACCT	0.532000													70	93					0	0	0.014410	0	0
ENAM	10117	broad.mit.edu	37	4	71500252	71500252	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:71500252A>G	ENST00000396073.3	+	6	719	c.438A>G	c.(436-438)caA>caG	p.Q146Q		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	146					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CACATAATCAACCTCAGCCCG	0.488000													12	28					0	0	0.001855	0	0
ABCC4	10257	broad.mit.edu	37	13	95822792	95822792	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:95822792C>T	ENST00000376887.4	-	14	1932	c.1818G>A	c.(1816-1818)ttG>ttA	p.L606L	ABCC4_ENST00000431522.1_Silent_p.L606L|ABCC4_ENST00000412704.1_Silent_p.L606L|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.L531L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	606	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTACATCTTTCAATATCAGAA	0.383000													4	11					0	0	0.000602	0	0
GCKR	2646	broad.mit.edu	37	2	27741759	27741759	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:27741759G>A	ENST00000264717.2	+	17	1590	c.1527G>A	c.(1525-1527)cgG>cgA	p.R509R	GCKR_ENST00000424318.2_Silent_p.R319R	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	509					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGGACCTTCGGATTAGCAACT	0.542000													43	81					0	0	0.014410	0	0
DDX42	11325	broad.mit.edu	37	17	61895645	61895645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:61895645C>T	ENST00000578681.1	+	19	3305	c.2704C>T	c.(2704-2706)Ccc>Tcc	p.P902S	DDX42_ENST00000457800.2_Missense_Mutation_p.P902S|DDX42_ENST00000583590.1_Missense_Mutation_p.P902S|DDX42_ENST00000389924.2_Missense_Mutation_p.P902S|DDX42_ENST00000359353.5_Missense_Mutation_p.P783S|DDX42_ENST00000582985.1_Intron	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	902					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CAAGATGGAACCCAAAGTGGA	0.532000													25	50					0	0	0.003330	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022433	51022433	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:51022433G>A	ENST00000599957.1	-	3	734	c.537C>T	c.(535-537)aaC>aaT	p.N179N	LRRC4B_ENST00000389201.3_Silent_p.N179N			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	179						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGGGCACGCGGTTGAAGGCGT	0.662000													20	29					0	0	0.014323	0	0
KCNN3	3782	broad.mit.edu	37	1	154744858	154744858	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:154744858G>A	ENST00000271915.3	-	3	1356	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	KCNN3_ENST00000358505.2_Silent_p.I34I|KCNN3_ENST00000361147.4_Silent_p.I42I	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	352				V -> A (in Ref. 1; AAC26099).		integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CGCCATTGTCGATCACGAAGA	0.622000													14	12					0	0	0.003163	0	0
FCRLB	127943	broad.mit.edu	37	1	161693166	161693166	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:161693166A>G	ENST00000367948.2	+	5	277	c.62A>G	c.(61-63)gAg>gGg	p.E21G	FCRLB_ENST00000367945.1_Missense_Mutation_p.E14G|FCRLB_ENST00000367944.3_Missense_Mutation_p.E14G|FCRLB_ENST00000392158.1_Missense_Mutation_p.E21G|FCRLB_ENST00000336830.5_Missense_Mutation_p.E21G|FCRLB_ENST00000367946.3_Missense_Mutation_p.E21G			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	21						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GCTACTCTGGAGAAGCCCATA	0.532000													28	93					0	0	0.005443	0	0
ABCA12	26154	broad.mit.edu	37	2	215901764	215901764	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:215901764A>C	ENST00000272895.7	-	8	1117	c.898T>G	c.(898-900)Tat>Gat	p.Y300D	AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	300					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAACGTGGATAAACCTTCTGC	0.413000													10	25					0	0	0.001855	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957150	143957150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:143957150C>T	ENST00000292427.4	-	6	1131	c.1099G>A	c.(1099-1101)Gcg>Acg	p.A367T	CYP11B1_ENST00000517471.1_Missense_Mutation_p.A367T|CYP11B1_ENST00000377675.3_Missense_Mutation_p.A438T	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	367					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TTGAGGGCCGCACGCAGCAAG	0.692000									Familial Hyperaldosteronism type I				9	48					0	0	0.002450	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822269	129822269	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:129822269G>A	ENST00000422113.2	-	4	1535	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	403						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGGGGTACTCGACCTGCCACG	0.577000													70	37					0	0	0.014410	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545727	234545727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:234545727C>T	ENST00000344644.5	+	1	628	c.559C>T	c.(559-561)Ctt>Ttt	p.L187F	UGT1A10_ENST00000373445.1_Missense_Mutation_p.L187F|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCCTGCTCCTCTTTCCTATGT	0.463000													73	47					0	0	0.014410	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136326	103136326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:103136326G>A	ENST00000295269.4	+	9	2187	c.1730G>A	c.(1729-1731)aGg>aAg	p.R577K		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	577					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGGCCCAGAGGATACAAGGA	0.453000													7	11					0	0	0.004482	0	0
MGAM	8972	broad.mit.edu	37	7	141752128	141752128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:141752128G>A	ENST00000475668.2	+	25	2894	c.2840G>A	c.(2839-2841)gGa>gAa	p.G947E	MGAM_ENST00000549489.2_Missense_Mutation_p.G947E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	947					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTCTCCTGGGAGAAGCATAC	0.423000													4	4					0	0	0.009096	0	0
TRPM8	79054	broad.mit.edu	37	2	234835192	234835192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:234835192C>T	ENST00000324695.4	+	2	50	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	4						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GATGTCCTTTCGGGCAGCCAG	0.527000													19	32					0	0	0.008871	0	0
P2RY12	64805	broad.mit.edu	37	3	151056274	151056274	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:151056274G>A	ENST00000302632.3	-	3	659	c.360C>T	c.(358-360)atC>atT	p.I120I	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	120					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	GGTAGCGATCGATAGTTATCA	0.418000													14	10					0	0	0.003163	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167438347	167438347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:167438347C>T	ENST00000366847.3	+	9	1115	c.884C>T	c.(883-885)tCc>tTc	p.S295F	FGFR1OP_ENST00000349556.4_Missense_Mutation_p.S275F	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	295					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		GGACTCAGCTCCCTGGCGGGA	0.463000			T	FGFR1	"""MPD, NHL"""								49	62					0	0	0.014410	0	0
ADAM18	8749	broad.mit.edu	37	8	39467071	39467071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:39467071C>T	ENST00000265707.5	+	5	380	c.335C>T	c.(334-336)tCt>tTt	p.S112F	ADAM18_ENST00000520772.1_Missense_Mutation_p.S112F|ADAM18_ENST00000379866.1_Missense_Mutation_p.S112F|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	112					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGTATATGTTCTGGTCTCAGG	0.343000													3	3					0	0	0.009096	0	0
SERPINB10	5273	broad.mit.edu	37	18	61582747	61582747	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:61582747G>A	ENST00000238508.3	+	2	62	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TTTCCTCAATGGACTCTCTAG	0.343000													6	12					0	0	0.001984	0	0
OLFM3	118427	broad.mit.edu	37	1	102296243	102296243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:102296243C>T	ENST00000370103.4	-	3	570	c.357G>A	c.(355-357)atG>atA	p.M119I	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.M139I|OLFM3_ENST00000359814.3_Missense_Mutation_p.M139I|OLFM3_ENST00000536598.1_Missense_Mutation_p.M44I	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	139						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AATGCTTGGTCATAAGTGTCT	0.408000													32	96					0	0	0.003755	0	0
SPAM1	6677	broad.mit.edu	37	7	123594482	123594482	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:123594482C>T	ENST00000340011.5	+	3	1215	c.858C>T	c.(856-858)atC>atT	p.I286I	SPAM1_ENST00000460182.1_Silent_p.I286I|SPAM1_ENST00000402183.2_Silent_p.I286I|SPAM1_ENST00000223028.7_Silent_p.I286I|SPAM1_ENST00000439500.1_Silent_p.I286I	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	286					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GGGAAGCCATCAGAGTTTCCA	0.413000													4	9					0	0	0.009096	0	0
RCSD1	92241	broad.mit.edu	37	1	167666602	167666602	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:167666602G>A	ENST00000367854.3	+	6	1072	c.741G>A	c.(739-741)gaG>gaA	p.E247E	RCSD1_ENST00000537350.1_Silent_p.E217E	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	247	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCAGGACAGAGAAGCAGGAGG	0.627000													7	20					0	0	0.001984	0	0
SBF1	6305	broad.mit.edu	37	22	50898552	50898552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:50898552G>A	ENST00000380817.2	-	26	3503	c.3320C>T	c.(3319-3321)tCc>tTc	p.S1107F	SBF1_ENST00000390679.3_Missense_Mutation_p.S1107F|SBF1_ENST00000348911.6_Missense_Mutation_p.S1108F	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1107					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGGCTGAGGACGGGGTCAG	0.687000													14	15					0	0	0.002450	0	0
WSCD1	23302	broad.mit.edu	37	17	6012932	6012932	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:6012932C>T	ENST00000574946.1	+	6	1245	c.855C>T	c.(853-855)ttC>ttT	p.F285F	WSCD1_ENST00000317744.5_Silent_p.F285F|WSCD1_ENST00000573634.1_Silent_p.F169F|WSCD1_ENST00000574232.1_Silent_p.F285F|WSCD1_ENST00000539421.1_Silent_p.F285F			Q658N2	WSCD1_HUMAN	WSC domain containing 1	285	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GGCAGGAGTTCCCCTTGGCCA	0.552000													101	64					0	0	0.014410	0	0
POLK	51426	broad.mit.edu	37	5	74879171	74879171	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:74879171A>G	ENST00000241436.4	+	8	1160	c.988A>G	c.(988-990)Aat>Gat	p.N330D	POLK_ENST00000380481.3_Missense_Mutation_p.N240D|POLK_ENST00000508526.1_Intron|POLK_ENST00000504026.1_Missense_Mutation_p.N330D|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Intron|POLK_ENST00000515295.1_Missense_Mutation_p.N330D	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	330	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GAATAAACCAAATGGACAATA	0.318000								DNA polymerases (catalytic subunits)					33	45					0	0	0.012213	0	0
OR2W1	26692	broad.mit.edu	37	6	29012427	29012427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:29012427G>A	ENST00000377175.1	-	1	590	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CACAAGAAATGATCCAGAATG	0.388000													22	16					0	0	0.012319	0	0
DAB1	1600	broad.mit.edu	37	1	57536726	57536726	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:57536726C>T	ENST00000371236.2	-	7	830	c.567G>A	c.(565-567)ttG>ttA	p.L189L	DAB1_ENST00000371230.1_Silent_p.L189L|DAB1_ENST00000371231.1_Silent_p.L189L|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.L189L|DAB1_ENST00000439789.2_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	189	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CATCCTCTTCCAATATTGTCT	0.423000													42	23					0	0	0.014410	0	0
RIMS3	9783	broad.mit.edu	37	1	41095019	41095019	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:41095019G>A	ENST00000372684.3	-	6	967	c.498C>T	c.(496-498)gaC>gaT	p.D166D	RIMS3_ENST00000372683.1_Silent_p.D166D	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	166	C2.				neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GGCCACTCCGGTCCATGATGG	0.592000													44	23					0	0	0.014410	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51049160	51049160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:51049160G>A	ENST00000399908.2	+	10	2346	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.E532K|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.E430K|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.E584K|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.E544K|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.E809K	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	810					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTACTACCAAGAGCACCTGGC	0.657000													8	6					0	0	0.010729	0	0
GPR98	84059	broad.mit.edu	37	5	89921010	89921010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:89921010C>T	ENST00000405460.2	+	6	718	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	208	Calx-beta 2.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		TATCACCTTTCCCCCTGGCAG	0.428000													10	11					0	0	0.010729	0	0
OR56B1	387748	broad.mit.edu	37	11	5757774	5757774	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:5757774A>T	ENST00000317121.3	+	1	94	c.28A>T	c.(28-30)Atc>Ttc	p.I10F	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		ATCTCTCAAAATCTCCAATAG	0.433000													5	11					0	0	0.000602	0	0
MOGAT1	116255	broad.mit.edu	37	2	223559194	223559194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:223559194G>A	ENST00000446656.3	+	4	592	c.592G>A	c.(592-594)Gga>Aga	p.G198R		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	198					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.G198R(1)|p.G197R(1)		breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TGCTCATCCTGGAAAGTTCAC	0.448000													22	12					0	0	0.010504	0	0
FREM2	341640	broad.mit.edu	37	13	39338470	39338470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:39338470C>T	ENST00000280481.7	+	3	5509	c.5293C>T	c.(5293-5295)Cgt>Tgt	p.R1765C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1765	Calx-beta 1.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R1765C(1)		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)		CCAGAATTTTCGTCTGAATTG	0.348000													32	27					0	0	0.013726	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552074	178552074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:178552074G>A	ENST00000251582.7	-	19	2959	c.2858C>T	c.(2857-2859)tCc>tTc	p.S953F		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	953	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S953F(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGCGTGCACGGAGCGGGTGGT	0.697000													54	77					0	0	0.014410	0	0
DGKG	1608	broad.mit.edu	37	3	185993452	185993452	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:185993452C>T	ENST00000265022.3	-	10	1333	c.792_splice	c.e10-1	p.G265_splice	DGKG_ENST00000344484.4_Splice_Site_p.G265_splice|DGKG_ENST00000544847.1_Splice_Site_p.G265_splice|DGKG_ENST00000382164.4_Splice_Site_p.G265_splice	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	265					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCCCTTGGAGCCCTGCAGGGG	0.557000													7	17					0	0	0.001984	0	0
IGSF9	57549	broad.mit.edu	37	1	159898223	159898223	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:159898223C>T	ENST00000368094.1	-	19	3152	c.2955G>A	c.(2953-2955)gtG>gtA	p.V985V	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.V969V	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	985						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGCCCCTACCACAGCCCCAG	0.632000													10	1					0	0	0.013537	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102916026	102916026	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:102916026G>A	ENST00000312132.4	-	0	753																											CCAAAGATGAGAGGTGAGAGA	0.323000													17	24					0	0	0.006122	0	0
ADH5	128	broad.mit.edu	37	4	99997979	99997979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:99997979G>A	ENST00000296412.8	-	5	490	c.440C>T	c.(439-441)tCt>tTt	p.S147F	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	147					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	TGTGTATTCAGAAAATGTGCT	0.398000													18	35					0	0	0.007413	0	0
QTRT1	81890	broad.mit.edu	37	19	10822888	10822888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:10822888G>A	ENST00000250237.5	+	6	708	c.698G>A	c.(697-699)gGt>gAt	p.G233D		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	233					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTGAGCGGGGGTGAGAGCAAG	0.617000													28	47					0	0	0.013726	0	0
SELP	6403	broad.mit.edu	37	1	169586429	169586429	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:169586429G>A	ENST00000263686.6	-	3	355	c.318C>T	c.(316-318)acC>acT	p.T106T	SELP_ENST00000458599.2_Silent_p.T106T|SELP_ENST00000367791.2_Silent_p.T106T|SELP_ENST00000367786.2_Silent_p.T106T|SELP_ENST00000367794.2_Silent_p.T106T|SELP_ENST00000367792.2_Silent_p.T106T|SELP_ENST00000367793.2_Silent_p.T106T|SELP_ENST00000367788.2_Silent_p.T106T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	106	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GAGCCTTTTTGGTTCCCACCC	0.443000													99	37					0	0	0.014410	0	0
SLC11A1	6556	broad.mit.edu	37	2	219254752	219254752	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:219254752G>A	ENST00000233202.6	+	9	1294		c.e9+1		SLC11A1_ENST00000539932.1_Splice_Site	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1						activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGGCTGCGGTGAGACACAC	0.562000													14	21					0	0	0.004007	0	0
SFRP2	6423	broad.mit.edu	37	4	154702739	154702739	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:154702739T>C	ENST00000274063.4	-	3	1036	c.752A>G	c.(751-753)aAc>aGc	p.N251S		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	251	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GTTGATGTCGTTCATCTCCTC	0.547000													20	52					0	0	0.012319	0	0
RHAG	6005	broad.mit.edu	37	6	49582400	49582400	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:49582400C>T	ENST00000371175.4	-	5	833	c.807_splice	c.e5+1	p.M269_splice	RHAG_ENST00000229810.7_Splice_Site_p.M269_splice	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	269					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CGGCACTTACCATGTTGAGCT	0.498000													36	40					0	0	0.014410	0	0
NPBWR2	2832	broad.mit.edu	37	20	62738121	62738121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:62738121C>T	ENST00000369768.1	-	1	403	c.64G>A	c.(64-66)Ggt>Agt	p.G22S		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	22						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					ACGTTGGCACCCATCGTGGGG	0.637000													44	55					0	0	0.014410	0	0
SLC13A1	6561	broad.mit.edu	37	7	122769502	122769502	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:122769502T>A	ENST00000194130.2	-	9	1005	c.966A>T	c.(964-966)aaA>aaT	p.K322N	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	322						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GTTGGACTGTTTTGGTTTTGC	0.388000													28	24					0	0	0.009535	0	0
CFTR	1080	broad.mit.edu	37	7	117175322	117175322	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:117175322C>T	ENST00000003084.6	+	6	732	c.600C>T	c.(598-600)ttC>ttT	p.F200F	CFTR_ENST00000454343.1_Silent_p.F200F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	200	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGCACATTTCGTGTGGATCG	0.453000									Cystic Fibrosis				72	93					0	0	0.014410	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22362919	22362919	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:22362919G>A	ENST00000390438.2	+	0	178																											GTTGCAGGAGGAACCAGAGCC	0.483000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	14					0	0	0.002780	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964104	94964104	+	Nonsense_Mutation	SNP	G	G	A	rs61757459	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:94964104G>A	ENST00000341228.2	-	3	1426	c.631C>T	c.(631-633)Cga>Tga	p.R211*	SERPINA12_ENST00000556881.1_Nonsense_Mutation_p.R211*	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	211					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCCTTACCTCGAAAGAAAATA	0.408000													25	32					0	0	0.007291	0	0
SPPL2B	56928	broad.mit.edu	37	19	2351460	2351460	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:2351460C>T	ENST00000452401.2	+	0	1460				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		TTGTGACATTCGTGGCACTGG	0.667000													41	55					0	0	0.013114	0	0
IL1A	3552	broad.mit.edu	37	2	113532801	113532801	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:113532801T>C	ENST00000263339.3	-	7	814	c.659A>G	c.(658-660)aAc>aGc	p.N220S		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	220					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						GAAGAGGAGGTTGGTCTCACT	0.428000													39	29					0	0	0.013114	0	0
SLC45A1	50651	broad.mit.edu	37	1	8384550	8384550	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:8384550A>C	ENST00000471889.1	+	2	546	c.161A>C	c.(160-162)aAg>aCg	p.K54T	SLC45A1_ENST00000289877.8_Missense_Mutation_p.K54T|SLC45A1_ENST00000377479.2_Missense_Mutation_p.K88T			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	54					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)		AAGAGGAGGAAGTGCATTCGT	0.657000													45	19					0	0	0.010771	0	0
RHBDD2	57414	broad.mit.edu	37	7	75511493	75511493	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:75511493G>A	ENST00000318622.4	+	3	731	c.102G>A	c.(100-102)tcG>tcA	p.S34S	RHBDD2_ENST00000006777.6_Silent_p.S175S|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Silent_p.S34S	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	175						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TGGGTGCCTCGTGGCTCATTC	0.597000													19	15					0	0	0.010504	0	0
NTN4	59277	broad.mit.edu	37	12	96059656	96059656	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:96059656G>A	ENST00000343702.4	-	9	2128	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	NTN4_ENST00000344911.4_Silent_p.F523F|NTN4_ENST00000553059.1_Silent_p.F537F|NTN4_ENST00000538383.1_Silent_p.F523F|PGAM1P5_ENST00000552554.1_RNA	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	560	NTR.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCTTTCCTCGGAAAATCTTCA	0.368000													7	20					0	0	0.003080	0	0
DIAPH3	81624	broad.mit.edu	37	13	60348868	60348868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:60348868G>A	ENST00000400324.4	-	26	3473	c.3253C>T	c.(3253-3255)Cca>Tca	p.P1085S	DIAPH3_ENST00000400319.1_Missense_Mutation_p.P1015S|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P1039S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P1085S|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P1085S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P1074S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1085	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCACCTTTTGGCATCGGTGTC	0.453000													19	23					0	0	0.008871	0	0
LNX2	222484	broad.mit.edu	37	13	28136562	28136562	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:28136562G>A	ENST00000316334.3	-	5	1341	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	404	PDZ 2.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GAATAATCTGGGCAGCAAGCT	0.502000													24	49					0	0	0.003954	0	0
OR13C4	138804	broad.mit.edu	37	9	107288807	107288807	+	Silent	SNP	C	C	T	rs141274906	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:107288807C>T	ENST00000277216.3	-	1	683	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGGCCGAGTTCGTTCGCAAGA	0.408000													21	45					0	0	0.003330	0	0
CNGA4	1262	broad.mit.edu	37	11	6261572	6261572	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:6261572A>C	ENST00000379936.2	+	4	663	c.548A>C	c.(547-549)aAc>aCc	p.N183T	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	183					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCATTGGAACAGCTGCCTA	0.592000													35	25					0	0	0.013726	0	0
MYO3A	53904	broad.mit.edu	37	10	26490216	26490216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:26490216G>A	ENST00000265944.5	+	33	4734	c.4568G>A	c.(4567-4569)cGa>cAa	p.R1523Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1523					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAGAAAAACGAAGACCAAGG	0.239000													5	6					0	0	0.001984	0	0
SCAND3	114821	broad.mit.edu	37	6	28540405	28540405	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:28540405G>A	ENST00000452236.2	-	4	3878	c.3261C>T	c.(3259-3261)ccC>ccT	p.P1087P		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1087					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gggaccacatgggtttcttgc	0.378000													12	15					0	0	0.010729	0	0
FAM83G	644815	broad.mit.edu	37	17	18880953	18880953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:18880953C>T	ENST00000388995.6	-	5	2249	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.E676K|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.E676K|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	676										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCATCTGCTTCTTCTCTTCCC	0.652000													5	22					0	0	0.001168	0	0
NLRP14	338323	broad.mit.edu	37	11	7059831	7059831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:7059831C>T	ENST00000299481.4	+	2	360	c.14C>T	c.(13-15)tCa>tTa	p.S5L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	5	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAGATTCATCATCATCTTCT	0.368000													22	53					0	0	0.006320	0	0
PLOD2	5352	broad.mit.edu	37	3	145804623	145804623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:145804623C>T	ENST00000282903.5	-	10	1255	c.1078G>A	c.(1078-1080)Gta>Ata	p.V360I	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Missense_Mutation_p.V360I|PLOD2_ENST00000494950.1_Missense_Mutation_p.V305I	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	360					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.V360L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCTGGTCCTACTATTTTTATA	0.254000													4	2					0	0	0.000602	0	0
SETD8	387893	broad.mit.edu	37	12	123875206	123875206	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:123875206C>T	ENST00000402868.3	+	3	588	c.162C>T	c.(160-162)atC>atT	p.I54I	SETD8_ENST00000330479.4_Silent_p.I54I|SETD8_ENST00000478781.2_3'UTR			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	95	Ala-rich.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AGTCAAAGATCTATTCCTACA	0.448000													29	27					0	0	0.008361	0	0
SHOX2	6474	broad.mit.edu	37	3	157816016	157816016	+	Missense_Mutation	SNP	G	G	A	rs142921456	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:157816016G>A	ENST00000490689.2	-	5	1906	c.373C>T	c.(373-375)Ccg>Tcg	p.P125S	SHOX2_ENST00000483851.2_Missense_Mutation_p.P254S|SHOX2_ENST00000425436.3_Missense_Mutation_p.P266S|SHOX2_ENST00000389589.4_Missense_Mutation_p.P290S|SHOX2_ENST00000441443.2_Missense_Mutation_p.P125S			O60902	SHOX2_HUMAN	short stature homeobox 2	266				E -> D (in Ref. 1; CAA05341).	nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCCAGGTGCGGATGCAGGTGG	0.672000													40	18					0	0	0.005524	0	0
NKAPL	222698	broad.mit.edu	37	6	28227220	28227220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:28227220C>T	ENST00000343684.3	+	1	123	c.71C>T	c.(70-72)tCg>tTg	p.S24L		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	24										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CGCAGCTCCTCGGGGAGCCCA	0.662000													12	8					0	0	0.013537	0	0
AQP9	366	broad.mit.edu	37	15	58430789	58430789	+	Missense_Mutation	SNP	G	G	A	rs150714814		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:58430789G>A	ENST00000219919.4	+	1	395	c.25G>A	c.(25-27)Gga>Aga	p.G9R	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000559443.1_3'UTR|AQP9_ENST00000558772.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.G9R	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	9					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AGCAGAAAAGGGAAAAAGCTT	0.473000													27	13					0	0	0.007291	0	0
OR5K2	402135	broad.mit.edu	37	3	98216788	98216788	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:98216788G>A	ENST00000427338.1	+	1	341	c.264G>A	c.(262-264)gaG>gaA	p.E88E	CLDND1_ENST00000502288.1_3'UTR	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTTTTCTGAGGGCAAAAGGA	0.438000													14	37					0	0	0.002450	0	0
MCHR2	84539	broad.mit.edu	37	6	100395698	100395698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:100395698G>A	ENST00000281806.2	-	3	646	c.332C>T	c.(331-333)tCc>tTc	p.S111F	MCHR2_ENST00000445970.1_Missense_Mutation_p.S111F|MCHR2_ENST00000369212.1_Missense_Mutation_p.S111F	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	111						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGTATCCAGGGATGTGATGAT	0.453000													13	14					0	0	0.002450	0	0
TONSL	4796	broad.mit.edu	37	8	145657820	145657820	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:145657820A>G	ENST00000409379.3	-	23	3612	c.3583T>C	c.(3583-3585)Tcc>Ccc	p.S1195P		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1195					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TAGGACAGGGACAGGGTCTTC	0.677000													36	23					0	0	0.010771	0	0
CDH2	1000	broad.mit.edu	37	18	25570083	25570083	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:25570083G>A	ENST00000269141.3	-	10	1999	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	CDH2_ENST00000399380.3_Nonsense_Mutation_p.R495*	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	526	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGCATATATCGATCTGGGTCC	0.378000													10	19					0	0	0.008291	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331792	100331792	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:100331792G>A	ENST00000341853.1	-	0	2399					NR_003260.1																						GTGAGGAGGAGGCACCTCGGC	0.622000													10	54					0	0	0.006214	0	0
SARDH	1757	broad.mit.edu	37	9	136594946	136594946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:136594946C>T	ENST00000371872.4	-	6	1113	c.856G>A	c.(856-858)Gtc>Atc	p.V286I	SARDH_ENST00000298628.5_Missense_Mutation_p.V286I|SARDH_ENST00000371867.1_Missense_Mutation_p.V197I|SARDH_ENST00000422262.2_Missense_Mutation_p.V118I|SARDH_ENST00000439388.1_Missense_Mutation_p.V286I	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	286					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ACCAGCGGGACCTTGACTCCA	0.642000													9	33					0	0	0.004482	0	0
OR6C65	403282	broad.mit.edu	37	12	55794708	55794708	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:55794708C>T	ENST00000379665.2	+	1	495	c.396C>T	c.(394-396)acC>acT	p.T132T		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ATTATACAACCATCATGAGTA	0.388000													24	65					0	0	0.004656	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33684080	33684080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:33684080G>A	ENST00000504830.1	-	4	1050	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R239W	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	239					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATGGAACGCCGAGAGAGGCTT	0.507000										HNSCC(64;0.19)			24	23					0	0	0.003954	0	0
PDILT	204474	broad.mit.edu	37	16	20376749	20376749	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20376749C>T	ENST00000302451.4	-	9	1478	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	410	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TACAGAACATCACAAATACGT	0.433000													25	29					0	0	0.007291	0	0
VPS53	55275	broad.mit.edu	37	17	602612	602612	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:602612C>T	ENST00000437048.2	-	3	323	c.177G>A	c.(175-177)gcG>gcA	p.A59A	VPS53_ENST00000401468.3_Silent_p.A59A|VPS53_ENST00000291074.5_Silent_p.A59A|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Silent_p.A59A|VPS53_ENST00000571805.1_Silent_p.A59A	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	59					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CGTCTATGTTCGCCAGAGACT	0.353000													31	24					0	0	0.004878	0	0
TBC1D31	93594	broad.mit.edu	37	8	124138819	124138819	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:124138819C>T	ENST00000287380.1	+	13	1866	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	TBC1D31_ENST00000309336.3_Silent_p.F592F|TBC1D31_ENST00000522420.1_Silent_p.F487F|TBC1D31_ENST00000521676.1_Silent_p.F469F|TBC1D31_ENST00000518805.1_Silent_p.F225F|TBC1D31_ENST00000378080.2_Silent_p.F487F|TBC1D31_ENST00000327098.5_Silent_p.F592F	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TGAAATTGTTCGATAATATCT	0.383000													28	15					0	0	0.006320	0	0
PDZD4	57595	broad.mit.edu	37	X	153073942	153073942	+	Silent	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:153073942G>T	ENST00000164640.4	-	2	360	c.169C>A	c.(169-171)Cgg>Agg	p.R57R	PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	57						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGTCCCCCCGGAGGCGGGGG	0.647000													14	0					0.000219431	0.000290077	0.002450	1	0
ICA1	3382	broad.mit.edu	37	7	8167583	8167583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:8167583G>A	ENST00000402384.3	-	13	1516	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L	ICA1_ENST00000401396.1_Missense_Mutation_p.P405L|ICA1_ENST00000406470.2_Missense_Mutation_p.P417L|ICA1_ENST00000422063.2_Missense_Mutation_p.P446L|ICA1_ENST00000265577.7_Missense_Mutation_p.P416L|ICA1_ENST00000396675.3_Missense_Mutation_p.P417L			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	417					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CTGGGCCTTGGGGTCTGGCTC	0.552000													99	6					0	0	0.014410	0	0
RBBP6	5930	broad.mit.edu	37	16	24581169	24581169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:24581169C>T	ENST00000319715.4	+	17	3590	c.3158C>T	c.(3157-3159)cCt>cTt	p.P1053L	RBBP6_ENST00000348022.2_Missense_Mutation_p.P1019L|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1053	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GAGAGATCTCCTCGATCTGAA	0.393000													22	21					0	0	0.004656	0	0
ZNF799	90576	broad.mit.edu	37	19	12502953	12502953	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:12502953T>C	ENST00000419318.1	-	4	912	c.163A>G	c.(163-165)Att>Gtt	p.I55V	ZNF799_ENST00000430385.3_Missense_Mutation_p.I87V|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.I87V|ZNF799_ENST00000595766.1_3'UTR|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTATCTTGAATCTGGCTAGAT	0.378000													11	19					0	0	0.013537	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33588706	33588706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:33588706C>T	ENST00000504830.1	-	18	3198	c.2863G>A	c.(2863-2865)Gag>Aag	p.E955K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E870K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	955	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAGCTCACCTCACTCCAGTTG	0.562000										HNSCC(64;0.19)			59	50					0	0	0.014410	0	0
INCENP	3619	broad.mit.edu	37	11	61912743	61912743	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:61912743C>T	ENST00000394818.3	+	13	2020	c.1818C>T	c.(1816-1818)atC>atT	p.I606I	INCENP_ENST00000278849.4_Silent_p.I602I	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	606					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTGCTCAGATCGACGAGAAGA	0.582000													29	40					0	0	0.008361	0	0
CGN	57530	broad.mit.edu	37	1	151502585	151502585	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:151502585G>A	ENST00000271636.7	+	12	2440	c.2307G>A	c.(2305-2307)cgG>cgA	p.R769R		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	763	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTGCAGCGGCTGGAGGTCA	0.587000													53	23					0	0	0.014410	0	0
XYLT1	64131	broad.mit.edu	37	16	17211549	17211549	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:17211549G>A	ENST00000261381.6	-	11	2595	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	837					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGCAACGAGGAATTTGGTCT	0.532000													25	38					0	0	0.006320	0	0
MUC6	4588	broad.mit.edu	37	11	1015761	1015761	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:1015761C>T	ENST00000421673.2	-	31	7090		c.e31+1			NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming						maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGCCACTTACCGGGTGAGGT	0.622000													7	20					0	0	0.004482	0	0
PPFIA1	8500	broad.mit.edu	37	11	70185379	70185379	+	Silent	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:70185379C>G	ENST00000253925.7	+	14	1889	c.1674C>G	c.(1672-1674)ggC>ggG	p.G558G	PPFIA1_ENST00000389547.3_Silent_p.G558G|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	558					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CACAGAAAGGCCGGCTGGCAG	0.572000													21	26					0	0	0.010504	0	0
TDRD6	221400	broad.mit.edu	37	6	46660891	46660891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:46660891G>A	ENST00000544460.1	+	1	5280	c.5026G>A	c.(5026-5028)Gat>Aat	p.D1676N	TDRD6_ENST00000316081.6_Missense_Mutation_p.D1676N	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1676					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGATGTTTGTGATATCCCTTT	0.313000													15	14					0	0	0.004990	0	0
GP5	2814	broad.mit.edu	37	3	194118752	194118752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:194118752G>A	ENST00000401815.1	-	1	331	c.260C>T	c.(259-261)tCc>tTc	p.S87F	GP5_ENST00000323007.3_Missense_Mutation_p.S87F			P40197	GPV_HUMAN	glycoprotein V (platelet)	87					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGCAACGGCGGAAATGTGGCT	0.592000													27	57					0	0	0.008361	0	0
ANO4	121601	broad.mit.edu	37	12	101413818	101413818	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:101413818C>T	ENST00000392979.3	+	8	997	c.636C>T	c.(634-636)atC>atT	p.I212I	ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Silent_p.I247I	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	247						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCAGCTTCATCATACACAACA	0.318000										HNSCC(74;0.22)			18	8					0	0	0.007413	0	0
RELB	5971	broad.mit.edu	37	19	45537713	45537713	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:45537713C>T	ENST00000221452.8	+	11	1431	c.1281C>T	c.(1279-1281)ccC>ccT	p.P427P	RELB_ENST00000540120.1_Silent_p.P427P|RELB_ENST00000505236.1_Silent_p.P424P	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	427	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CCTCAGACCCCCATGGCATCG	0.647000													65	99					0	0	0.014410	0	0
PRND	23627	broad.mit.edu	37	20	4705609	4705609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:4705609G>A	ENST00000305817.2	+	2	483	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	138	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCTGGTCCAGGAGCTCTGCTC	0.612000													24	17					0	0	0.003954	0	0
MATN3	4148	broad.mit.edu	37	2	20200319	20200319	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:20200319T>A	ENST00000407540.3	-	5	1113	c.1051A>T	c.(1051-1053)Aaa>Taa	p.K351*	MATN3_ENST00000421259.2_Nonsense_Mutation_p.K309*|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	351	EGF-like 3.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGCACATTTATCTTGAGCT	0.403000													11	14					0	0	0.013537	0	0
AGO2	27161	broad.mit.edu	37	8	141551433	141551433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:141551433G>A	ENST00000220592.5	-	15	1976	c.1864C>T	c.(1864-1866)Ccc>Tcc	p.P622S	AGO2_ENST00000519980.1_Missense_Mutation_p.P622S	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		TAGCGATTGGGGTGGGCGTCC	0.617000													10	10					0	0	0.010729	0	0
C4BPA	722	broad.mit.edu	37	1	207297685	207297685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:207297685G>A	ENST00000367070.3	+	6	874	c.680G>A	c.(679-681)tGg>tAg	p.W227*		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	227	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ATAGGTGTTTGGAGACCAAGC	0.423000													25	8					0	0	0.005443	0	0
SLC4A7	9497	broad.mit.edu	37	3	27450882	27450882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:27450882C>T	ENST00000295736.5	-	13	1949	c.1879G>A	c.(1879-1881)Gga>Aga	p.G627R	SLC4A7_ENST00000425128.2_Intron|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G512R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G508R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G619R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G636R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G508R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G177R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G503R|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G623R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G623R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	627						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AGCAGCCCTCCAAAAGTGATT	0.453000													56	109					0	0	0.014410	0	0
RMND5B	64777	broad.mit.edu	37	5	177565240	177565240	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:177565240G>A	ENST00000515098.1	+	4	471	c.120G>A	c.(118-120)cgG>cgA	p.R40R	RMND5B_ENST00000313386.4_Silent_p.R40R|RMND5B_ENST00000542098.1_Intron			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	40										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCAGCTGCGGGCTGAGCTGG	0.642000													15	7					0	0	0.007413	0	0
THSD7B	80731	broad.mit.edu	37	2	137917931	137917931	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:137917931G>A	ENST00000409968.1	+	6	1696	c.1518G>A	c.(1516-1518)ggG>ggA	p.G506G	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.G475G|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Silent_p.G506G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATCCTCAGGGGAAAAAAGGTG	0.468000													6	10					0	0	0.001168	0	0
PTCH2	8643	broad.mit.edu	37	1	45294203	45294203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:45294203G>A	ENST00000447098.2	-	12	1576	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L	PTCH2_ENST00000372192.3_Missense_Mutation_p.P522L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	522	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCGCAGCGCAGGGATGGGAAC	0.632000									Basal Cell Nevus syndrome				4	24					0	0	0.009096	0	0
MADD	8567	broad.mit.edu	37	11	47308070	47308070	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:47308070T>A	ENST00000342922.4	+	15	2995	c.2638T>A	c.(2638-2640)Ttc>Atc	p.F880I	MADD_ENST00000406482.1_Missense_Mutation_p.F837I|MADD_ENST00000311027.5_Missense_Mutation_p.F880I|MADD_ENST00000395344.3_Missense_Mutation_p.F837I|MADD_ENST00000402799.1_Missense_Mutation_p.F837I|MADD_ENST00000395336.3_Missense_Mutation_p.F880I|MADD_ENST00000402192.2_Missense_Mutation_p.F880I|MADD_ENST00000407859.3_Missense_Mutation_p.F837I|MADD_ENST00000349238.3_Missense_Mutation_p.F880I	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	880					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GGCCACGCCCTTCCCCAGTCT	0.562000													47	23					0	0	0.014410	0	0
IL12RB1	3594	broad.mit.edu	37	19	18173075	18173075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:18173075G>A	ENST00000600835.1	-	15	1934	c.1631C>T	c.(1630-1632)tCt>tTt	p.S544F	IL12RB1_ENST00000593993.1_Missense_Mutation_p.S544F|IL12RB1_ENST00000430026.2_Missense_Mutation_p.S544F			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	544					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GAGCCAATCAGAAACCTGCAC	0.577000													16	26					0	0	0.004990	0	0
DSCAM	1826	broad.mit.edu	37	21	41414346	41414346	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:41414346C>T	ENST00000400454.1	-	32	6115	c.5638G>A	c.(5638-5640)Gat>Aat	p.D1880N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1880					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)				CTTCCTCCATCCTGAGGTTTG	0.567000													18	27					0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179413756	179413756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179413756C>T	ENST00000589042.1	-	339	92821	c.92597G>A	c.(92596-92598)gGa>gAa	p.G30866E	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G21801E|TTN_ENST00000359218.5_Missense_Mutation_p.G21926E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21993E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G28298E|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G29225E|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29225	Fibronectin type-III 125.						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)			GTGCCAGTCTCCTAAGTCGGC	0.408000													8	19					0	0	0.003080	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62782740	62782740	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:62782740G>A	ENST00000582986.1	-	0	2309					NR_024386.1																						TGGCAGATCTGGCAGATGAAG	0.567000													13	6					0	0	0.002450	0	0
STK39	27347	broad.mit.edu	37	2	169023827	169023827	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:169023827T>G	ENST00000355999.4	-	3	1117	c.412A>C	c.(412-414)Atg>Ctg	p.M138L		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	138	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						AGTAATTTCATGACCAGCCAA	0.373000													5	18					0	0	0.001984	0	0
OBSCN	84033	broad.mit.edu	37	1	228505416	228505416	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:228505416G>T	ENST00000570156.2	+	63	16758	c.16684G>T	c.(16684-16686)Ggg>Tgg	p.G5562W	OBSCN_ENST00000422127.1_Missense_Mutation_p.G4605W|OBSCN_ENST00000284548.11_Missense_Mutation_p.G4605W|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1724W|OBSCN_ENST00000366707.4_Missense_Mutation_p.G2239W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4605					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTGGGTGCTGGGGAACCGGT	0.667000													50	28					1.22587e-43	1.65344e-43	0.014410	1	0
PGC	5225	broad.mit.edu	37	6	41712480	41712480	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:41712480G>A	ENST00000373025.3	-	2	188	c.126C>T	c.(124-126)ttC>ttT	p.F42F	PGC_ENST00000425343.2_Silent_p.F42F	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	42					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGGTCCTCAGGAACTCCCCCA	0.532000													16	15					0	0	0.008871	0	0
TNPO2	30000	broad.mit.edu	37	19	12822261	12822261	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:12822261C>T	ENST00000425528.1	-	12	1323	c.966G>A	c.(964-966)gaG>gaA	p.E322E	TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000592287.1_Silent_p.E322E|TNPO2_ENST00000441499.1_Silent_p.E322E|TNPO2_ENST00000588216.1_Silent_p.E322E|TNPO2_ENST00000450764.2_Silent_p.E322E|TNPO2_ENST00000356861.5_Silent_p.E322E			O14787	TNPO2_HUMAN	transportin 2	322					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGCCTCATCCTCCTCCACAT	0.652000													28	37					0	0	0.010818	0	0
CYP2C8	1558	broad.mit.edu	37	10	96818163	96818163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:96818163C>T	ENST00000371270.3	-	5	842	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	CYP2C8_ENST00000539050.1_Missense_Mutation_p.E164K|CYP2C8_ENST00000535898.1_Missense_Mutation_p.E148K	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	250					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GCTTGGTGTTCTTTTACTTTC	0.373000													8	18					0	0	0.003080	0	0
PAEP	5047	broad.mit.edu	37	9	138454250	138454250	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:138454250G>A	ENST00000479141.1	+	2	251	c.207G>A	c.(205-207)gaG>gaA	p.E69E	PAEP_ENST00000371766.2_Silent_p.E69E|PAEP_ENST00000277508.5_Silent_p.E69E	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	69					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCACCCCCGAGGACAACCTGG	0.622000													20	10					0	0	0.014323	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164277	150164277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:150164277G>A	ENST00000307271.3	+	2	1065	c.491G>A	c.(490-492)cGa>cAa	p.R164Q		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	164						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.R164Q(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TATGAGGGCCGATACTGCATT	0.443000													17	26					0	0	0.007413	0	0
TTC7B	145567	broad.mit.edu	37	14	91059967	91059967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:91059967G>A	ENST00000357056.2	-	19	2142	c.2021C>T	c.(2020-2022)tCc>tTc	p.S674F	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Missense_Mutation_p.S657F			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	657							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GGCATGGACGGAGCCTGTGAG	0.577000													23	32					0	0	0.003330	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139034	64139034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:64139034G>A	ENST00000545618.1	-	5	997	c.434C>T	c.(433-435)cCc>cTc	p.P145L	ZC4H2_ENST00000374839.3_Missense_Mutation_p.P150L|ZC4H2_ENST00000337990.2_Missense_Mutation_p.P127L|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000488608.1_5'UTR			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	150							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTCAGGGATGGGGGGCTCCTG	0.572000													19	4					0	0	0.014323	0	0
SPRR3	6707	broad.mit.edu	37	1	152975727	152975727	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:152975727C>T	ENST00000331860.3	+	3	381	c.231C>T	c.(229-231)gtC>gtT	p.V77V	SPRR3_ENST00000295367.4_Silent_p.V77V|SPRR3_ENST00000542696.1_Silent_p.V77V	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	77	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTACCAAGGTCCCTGAGCCAG	0.587000													6	24					0	0	0.001168	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515112	47515112	+	Missense_Mutation	SNP	T	T	C	rs148267635		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:47515112T>C	ENST00000371901.3	+	11	1541	c.1291T>C	c.(1291-1293)Ttc>Ctc	p.F431L	CYP4X1_ENST00000538609.1_Missense_Mutation_p.F430L	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	431						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCCCTTGAGGTTCTCTCAGGA	0.458000													18	61					0	0	0.010504	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261902	21261902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:21261902G>A	ENST00000311620.5	+	2	1088	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	339										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGTGGAGTGGGAGGAAGATGT	0.522000													22	35					0	0	0.003954	0	0
OR8B8	26493	broad.mit.edu	37	11	124310552	124310552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124310552G>A	ENST00000328064.2	-	1	502	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CCCAACAAAAGGAGAAAACAC	0.522000													11	10					0	0	0.013537	0	0
MYPN	84665	broad.mit.edu	37	10	69926384	69926384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:69926384C>T	ENST00000358913.5	+	10	2422	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	MYPN_ENST00000540630.1_Missense_Mutation_p.P645L|MYPN_ENST00000354393.2_Missense_Mutation_p.P370L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	645						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCTTCTTCCCCCGTGAAAGAG	0.512000													20	20					0	0	0.007413	0	0
MECOM	2122	broad.mit.edu	37	3	168833467	168833467	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:168833467C>T	ENST00000464456.1	-	7	2829	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	MECOM_ENST00000468789.1_Silent_p.K543K|MECOM_ENST00000264674.3_Silent_p.K608K|MECOM_ENST00000460814.1_Silent_p.K543K|MECOM_ENST00000433243.2_Silent_p.K544K|MECOM_ENST00000472280.1_Silent_p.K544K|MECOM_ENST00000392736.3_Silent_p.K543K|MECOM_ENST00000494292.1_Silent_p.K731K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	53							sequence-specific DNA binding transcription factor activity	p.K543K(1)		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						TCTGCAGTTTCTTTACTTCAC	0.473000													14	8					0	0	0.006122	0	0
GPR152	390212	broad.mit.edu	37	11	67219722	67219722	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:67219722C>T	ENST00000312457.2	-	1	478	c.474G>A	c.(472-474)ctG>ctA	p.L158L		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	158						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGAGTGTGGCCAGCACCCAGA	0.682000													14	19					0	0	0.004007	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679735	160679735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:160679735G>A	ENST00000366953.3	-	1	313	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	SLC22A2_ENST00000366952.1_5'UTR|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	19					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ATTTGCTTCTGGAAAAAGTGA	0.622000													19	19					0	0	0.010504	0	0
ATP13A5	344905	broad.mit.edu	37	3	193039583	193039583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:193039583G>A	ENST00000342358.4	-	16	1919	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	601					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGGCTCGAGGAAAATGGAAA	0.502000													12	21					0	0	0.002450	0	0
MGAM	8972	broad.mit.edu	37	7	141755448	141755448	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:141755448G>A	ENST00000475668.2	+	28	3459	c.3405G>A	c.(3403-3405)ggG>ggA	p.G1135G	MGAM_ENST00000549489.2_Silent_p.G1135G			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1135	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGGCTTTGGGGAAACTGAGC	0.537000													41	45					0	0	0.010771	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450575	107450575	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:107450575T>G	ENST00000409382.3	-	3	1581	c.971A>C	c.(970-972)aAc>aCc	p.N324T	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.N324T|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.N324T	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	324					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGGAGCAGAGTTAAATCTCAA	0.378000													24	44					0	0	0.004656	0	0
PTX4	390667	broad.mit.edu	37	16	1536522	1536522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:1536522G>A	ENST00000440447.2	-	3	481	c.410C>T	c.(409-411)tCc>tTc	p.S137F	PTX4_ENST00000293922.1_Silent_p.F280F|PTX4_ENST00000447419.2_Silent_p.F285F			Q96A99	PTX4_HUMAN	pentraxin 4, long	0						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CAGGGCTGAGGAAGACCACGT	0.667000													26	34					0	0	0.007291	0	0
KIF6	221458	broad.mit.edu	37	6	39330294	39330294	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:39330294C>T	ENST00000287152.7	-	17	1956	c.1861_splice	c.e17-1	p.G621_splice	KIF6_ENST00000373216.3_Splice_Site_p.G621_splice|KIF6_ENST00000373213.4_Splice_Site_p.G460_splice|KIF6_ENST00000229913.5_Splice_Site_p.G72_splice|KIF6_ENST00000373215.3_Splice_Site_p.G604_splice|KIF6_ENST00000538893.1_Splice_Site_p.G565_splice|KIF6_ENST00000394362.1_Splice_Site_p.G72_splice|KIF6_ENST00000541946.1_Splice_Site_p.G72_splice	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	621					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTCCGAGATTCCTGTAGAAGG	0.498000											OREG0017415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	77					0	0	0.014410	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954863	12954863	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:12954863C>T	ENST00000235347.4	-	3	499	c.420G>A	c.(418-420)agG>agA	p.R140R		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	140										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	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;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)		GCTCTCCCATCCTTGGACAGT	0.517000													49	14					0	0	0.014410	0	0
SLC17A9	63910	broad.mit.edu	37	20	61588800	61588800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:61588800G>A	ENST00000370349.3	+	4	451	c.247G>A	c.(247-249)Ggt>Agt	p.G83S	SLC17A9_ENST00000370351.4_Missense_Mutation_p.G89S|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	89					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CAGGATTGGGGGTGAGAAGGT	0.642000													17	17					0	0	0.006122	0	0
ATRIP	84126	broad.mit.edu	37	3	48506283	48506283	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:48506283G>A	ENST00000412052.1	+	12	2292	c.1830G>A	c.(1828-1830)agG>agA	p.R610R	ATRIP_ENST00000346691.4_Silent_p.R676R|ATRIP_ENST00000357105.6_Silent_p.R576R|ATRIP_ENST00000320211.3_Silent_p.R703R	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	703					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGTGCGGAGGGCAGGGGGAC	0.657000								Other conserved DNA damage response genes					12	9					0	0	0.013537	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33588759	33588759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:33588759G>A	ENST00000504830.1	-	18	3145	c.2810C>T	c.(2809-2811)tCc>tTc	p.S937F	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S852F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	937	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTGTTGCAGGAAAGGAGGGT	0.592000										HNSCC(64;0.19)			32	54					0	0	0.005524	0	0
PML	5371	broad.mit.edu	37	15	74336649	74336649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:74336649C>T	ENST00000565898.1	+	8	1889	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	PML_ENST00000268058.3_Missense_Mutation_p.S650F			P29590	PML_HUMAN	promyelocytic leukemia	650					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCATCTACTCCAAGGCCGTG	0.617000			T	"""RARA, PAX5"""	"""APL, ALL"""								75	6					0	0	0.014410	0	0
VEGFA	7422	broad.mit.edu	37	6	43745274	43745274	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:43745274C>T	ENST00000372067.3	+	3	1221	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	VEGFA_ENST00000518824.1_Nonsense_Mutation_p.Q63*|VEGFA_ENST00000518689.1_Nonsense_Mutation_p.Q63*|VEGFA_ENST00000413642.3_Nonsense_Mutation_p.Q243*|VEGFA_ENST00000457104.2_Nonsense_Mutation_p.Q63*|VEGFA_ENST00000523873.1_Nonsense_Mutation_p.Q63*|VEGFA_ENST00000417285.2_Nonsense_Mutation_p.Q243*|VEGFA_ENST00000324450.6_Nonsense_Mutation_p.Q243*|VEGFA_ENST00000523125.1_Nonsense_Mutation_p.Q63*|VEGFA_ENST00000425836.2_Nonsense_Mutation_p.Q243*|VEGFA_ENST00000372077.4_Nonsense_Mutation_p.Q63*|VEGFA_ENST00000372064.4_Nonsense_Mutation_p.Q243*|VEGFA_ENST00000520948.1_Nonsense_Mutation_p.Q63*|VEGFA_ENST00000523950.1_Nonsense_Mutation_p.Q63*|VEGFA_ENST00000230480.6_Nonsense_Mutation_p.Q35*|VEGFA_ENST00000372055.4_Nonsense_Mutation_p.Q243*|VEGFA_ENST00000482630.2_Nonsense_Mutation_p.Q243*	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	63					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GGACATCTTCCAGGAGTACCC	0.567000													27	25					0	0	0.003954	0	0
UVRAG	7405	broad.mit.edu	37	11	75715092	75715092	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:75715092G>A	ENST00000356136.3	+	9	1111	c.870G>A	c.(868-870)aaG>aaA	p.K290K	UVRAG_ENST00000532130.1_5'UTR|UVRAG_ENST00000528420.1_Silent_p.K189K|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000539288.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	290					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AACTCCAGAAGGAATCCCTAA	0.408000													40	33					0	0	0.009718	0	0
NCR2	9436	broad.mit.edu	37	6	41318469	41318469	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:41318469A>T	ENST00000373089.5	+	5	786	c.698A>T	c.(697-699)aAa>aTa	p.K233I	NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	233					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					GATACCCAAAAAGCCACCTGC	0.507000													25	40					0	0	0.003330	0	0
DNAH3	55567	broad.mit.edu	37	16	21049100	21049100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:21049100C>T	ENST00000261383.3	-	34	4932	c.4933G>A	c.(4933-4935)Gat>Aat	p.D1645N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1645N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1645					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGAGGGACATCTTGCGCTAAG	0.507000													15	20					0	0	0.004990	0	0
INSR	3643	broad.mit.edu	37	19	7117139	7117139	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:7117139G>A	ENST00000341500.5	-	21	4080	c.4041C>T	c.(4039-4041)atC>atT	p.I1347I	INSR_ENST00000302850.5_Silent_p.I1359I	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1359					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.I1359I(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTGTGTAAGGGATGTGTTCCT	0.622000													154	163					0	0	0.014410	0	0
IL3RA	3563	broad.mit.edu	37	X	1477780	1477780	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:1477780G>A	ENST00000331035.4	+	8	1108	c.759_splice	c.e8+1	p.Q253_splice	IL3RA_ENST00000381469.2_Splice_Site_p.Q175_splice	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	253						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		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)	TCACAGAACAGGTGAGTGTTC	0.388000													26	35					0	0	0.012213	0	0
MUC16	94025	broad.mit.edu	37	19	9063836	9063836	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9063836G>A	ENST00000397910.4	-	3	23813	c.23610C>T	c.(23608-23610)tcC>tcT	p.S7870S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7872	Ser-rich.|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						GACCTGGGATGGAGGTGACGT	0.522000													32	22					0	0	0.010818	0	0
PCLO	27445	broad.mit.edu	37	7	82579263	82579263	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:82579263T>C	ENST00000423517.2	-	6	10978	c.10641A>G	c.(10639-10641)gtA>gtG	p.V3547V	PCLO_ENST00000333891.8_Silent_p.V3547V|PCLO_ENST00000437081.1_Silent_p.V267V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3478					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						TAATTATTTCTACCTTGGCAT	0.438000													11	13					0	0	0.010729	0	0
ART5	116969	broad.mit.edu	37	11	3660940	3660940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:3660940G>A	ENST00000397068.3	-	2	1111	c.719C>T	c.(718-720)gCc>gTc	p.A240V	ART5_ENST00000359918.4_Missense_Mutation_p.A240V|ART5_ENST00000397067.3_Intron	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	240						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGCTCTGGGCTCCATCCTG	0.542000													21	74					0	0	0.010504	0	0
WDR65	149465	broad.mit.edu	37	1	43665161	43665161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:43665161G>A	ENST00000372492.4	+	9	1853	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	WDR65_ENST00000528956.1_Missense_Mutation_p.G510E	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	510										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCCTGAAAGGACACACAGGG	0.502000													58	19					0	0	0.014410	0	0
WDR62	284403	broad.mit.edu	37	19	36581413	36581413	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:36581413C>T	ENST00000401500.2	+	16	2060	c.2025C>T	c.(2023-2025)tcC>tcT	p.S675S	WDR62_ENST00000270301.7_Silent_p.S675S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	675					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACGAAGGGTCCTTGCTGAAGG	0.592000													22	25					0	0	0.002780	0	0
SETBP1	26040	broad.mit.edu	37	18	42531492	42531492	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:42531492G>A	ENST00000282030.5	+	4	2483	c.2187G>A	c.(2185-2187)agG>agA	p.R729R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	729						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGCGGGGCAGGAAGCCAAGAG	0.572000									Schinzel-Giedion syndrome				13	17					0	0	0.013537	0	0
DMBX1	127343	broad.mit.edu	37	1	46978056	46978056	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:46978056C>T	ENST00000371956.4	+	4	1054	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	DMBX1_ENST00000360032.3_Silent_p.L342L	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	347					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCCAGCAGGCCTGGCTCCTGC	0.642000													34	12					0	0	0.013726	0	0
MIR548A1	693125	broad.mit.edu	37	6	18572020	18572020	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:18572020G>A	ENST00000385041.1	+	0	6					NR_030312.1																						TGCACTGCAGGGAGGTAttaa	0.323000													10	4					0	0	0.006214	0	0
CELSR2	1952	broad.mit.edu	37	1	109814029	109814029	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:109814029C>T	ENST00000271332.3	+	27	7759	c.7698C>T	c.(7696-7698)ttC>ttT	p.F2566F	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2566					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGCCCTCCTTCGCCGTCCTCC	0.642000													143	62					0	0	0.014410	0	0
MALAT1	378938	broad.mit.edu	37	11	65271911	65271911	+	RNA	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:65271911A>G	ENST00000534336.1	+	0	6679					NR_002819.2																						CGACTGGAGTATGATTAAAAG	0.418000													21	16					0	0	0.014323	0	0
TTN	7273	broad.mit.edu	37	2	179417475	179417475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179417475C>T	ENST00000589042.1	-	335	90376	c.90152G>A	c.(90151-90153)tGg>tAg	p.W30051*	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W20986*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W21111*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W21178*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W27483*|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W28410*|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28410	Ig-like 136.						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)			AGGTTTGGTCCAGCTGAGGAT	0.468000													4	24					0	0	0.001168	0	0
GIP	2695	broad.mit.edu	37	17	47044511	47044511	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:47044511G>A	ENST00000357424.2	-	2	184	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	28					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						ACTCCTACCTGAAGTGACCCT	0.532000													38	39					0	0	0.006999	0	0
WNT3	7473	broad.mit.edu	37	17	44847226	44847226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:44847226C>T	ENST00000225512.5	-	3	673	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	171					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCCGCGAACTCCCTGGACACT	0.667000													19	26					0	0	0.010504	0	0
ACE	1636	broad.mit.edu	37	17	61562671	61562671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:61562671G>A	ENST00000577647.1	+	2	319	c.274G>A	c.(274-276)Gag>Aag	p.E92K	ACE_ENST00000290866.4_Missense_Mutation_p.E666K|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000490216.2_Missense_Mutation_p.E92K|ACE_ENST00000413513.3_Missense_Mutation_p.E92K|ACE_ENST00000428043.1_Missense_Mutation_p.E666K|ACE_ENST00000290863.6_Missense_Mutation_p.E92K			P12821	ACE_HUMAN	angiotensin I converting enzyme	666	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGTGTGGAACGAGTATGCCGA	0.562000													14	16					0	0	0.003163	0	0
MORN5	254956	broad.mit.edu	37	9	124929150	124929150	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:124929150G>C	ENST00000536616.1	+	2	189	c.151G>C	c.(151-153)Gga>Cga	p.G51R	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.G51R			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	51										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						CTTCCCCAGCGGAAGCCAATA	0.537000													3	6					0	0	0.009096	0	0
VSTM4	196740	broad.mit.edu	37	10	50285269	50285269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:50285269G>A	ENST00000332853.3	-	4	652	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	210						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTTACCTCTGGATTTCCGCTT	0.517000													11	13					0	0	0.008291	0	0
RCC2	55920	broad.mit.edu	37	1	17749280	17749280	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:17749280G>A	ENST00000375436.4	-	5	763	c.576C>T	c.(574-576)gcC>gcT	p.A192A	RCC2_ENST00000375433.3_Silent_p.A192A	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	192					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		TGAGTCTAGGGGCTTCTACTC	0.552000													16	39					0	0	0.006122	0	0
HDGF	3068	broad.mit.edu	37	1	156714136	156714136	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:156714136G>T	ENST00000357325.5	-	4	622	c.308C>A	c.(307-309)tCc>tAc	p.S103Y	HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000537739.1_Missense_Mutation_p.S103Y|HDGF_ENST00000416666.2_Missense_Mutation_p.S71Y|HDGF_ENST00000368206.5_Missense_Mutation_p.S119Y|HDGF_ENST00000368209.5_Missense_Mutation_p.S96Y	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	103					cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTTTTTCTGGGAGGACTGCAG	0.607000													57	197					1.78668e-44	2.41066e-44	0.014410	1	0
IGSF1	3547	broad.mit.edu	37	X	130408770	130408770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:130408770C>T	ENST00000370904.1	-	24	4437	c.3527G>A	c.(3526-3528)gGa>gAa	p.G1176E	IGSF1_ENST00000361420.3_Missense_Mutation_p.G1185E|IGSF1_ENST00000370910.1_Missense_Mutation_p.G1176E|IGSF1_ENST00000370903.3_Missense_Mutation_p.G1190E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1185	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.G1185V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGCAGGGGTCCTCGGCACTG	0.507000													74	1					0	0	0.014410	0	0
C10orf137	26098	broad.mit.edu	37	10	127411683	127411683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:127411683G>A	ENST00000337623.3	+	3	469	c.364G>A	c.(364-366)Gat>Aat	p.D122N	C10orf137_ENST00000356792.4_Missense_Mutation_p.D122N	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAATGATGTGGATGTTGTCTC	0.363000													63	78					0	0	0.014410	0	0
LCN2	3934	broad.mit.edu	37	9	130913917	130913917	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:130913917G>A	ENST00000540948.1	+	3	349	c.275_splice	c.e3-1	p.R92_splice	LCN2_ENST00000373013.2_Splice_Site_p.W94_splice|LCN2_ENST00000277480.2_Splice_Site_p.R92_splice|LCN2_ENST00000372998.1_Intron|LCN2_ENST00000373017.1_Splice_Site_p.R92_splice|LCN2_ENST00000470902.1_3'UTR			P80188	NGAL_HUMAN	lipocalin 2	92					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CCCTCCCAAGGAAAAAGAAGT	0.582000													8	26					0	0	0.006214	0	0
HECTD4	283450	broad.mit.edu	37	12	112677020	112677020	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:112677020A>G	ENST00000550722.1	-	34	5083	c.4688T>C	c.(4687-4689)gTa>gCa	p.V1563A	HECTD4_ENST00000377560.5_Missense_Mutation_p.V1537A|HECTD4_ENST00000430131.2_Missense_Mutation_p.V1287A	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCCACTGCGTACCAGGCACTT	0.517000													13	53					0	0	0.004007	0	0
ZBTB16	7704	broad.mit.edu	37	11	114113047	114113047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:114113047C>T	ENST00000335953.4	+	5	1992	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	ZBTB16_ENST00000392996.2_Missense_Mutation_p.R538C|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	538					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ACGCCACCTGCGCTCACATAC	0.597000													7	15					0	0	0.004482	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14183687	14183687	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:14183687G>A	ENST00000581935.1	+	0	538																				lung(3)	3						GTGGCCATGTGAAAGTGGTCA	0.393000													12	115					0	0	0.008871	0	0
ANAPC2	29882	broad.mit.edu	37	9	140075310	140075310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:140075310G>A	ENST00000323927.2	-	8	1544	c.1540C>T	c.(1540-1542)Ctc>Ttc	p.L514F		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	514					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TTGATGAAGAGGTCCTTGCTG	0.632000													30	13					0	0	0.003271	0	0
CCDC129	223075	broad.mit.edu	37	7	31617984	31617984	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:31617984C>A	ENST00000409210.1	+	6	1014	c.830C>A	c.(829-831)aCt>aAt	p.T277N	CCDC129_ENST00000451887.2_Missense_Mutation_p.T395N|CCDC129_ENST00000407970.3_Missense_Mutation_p.T369N|CCDC129_ENST00000319386.3_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	369										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTATTTCAGACTAACAAGCTC	0.517000													27	1					4.59853e-10	6.12983e-10	0.005443	1	0
OR2C1	4993	broad.mit.edu	37	16	3406126	3406126	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:3406126C>T	ENST00000304936.2	+	1	238	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGTACTTCTTCCTCAGCAACC	0.517000													57	65					0	0	0.014410	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57467961	57467961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:57467961G>A	ENST00000394391.4	-	5	792	c.551C>T	c.(550-552)cCt>cTt	p.P184L	CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.P184L|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.P184L|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.P157L|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.P171L|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.P184L	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	184					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CTTACCTGAAGGAGAAGACTT	0.423000													40	2					0	0	0.014410	0	0
ZNF827	152485	broad.mit.edu	37	4	146824297	146824297	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:146824297C>T	ENST00000508784.1	-	2	341	c.114G>A	c.(112-114)gaG>gaA	p.E38E	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Silent_p.E38E			Q17R98	ZN827_HUMAN	zinc finger protein 827	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTGACGGAGTCTCTGAAGAGT	0.522000													15	136					0	0	0.002780	0	0
KRT19	3880	broad.mit.edu	37	17	39680682	39680682	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:39680682C>T	ENST00000361566.3	-	4	831	c.771G>A	c.(769-771)gaG>gaA	p.E257E		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CGGCCATGACCTCATATTGGC	0.617000													44	50					0	0	0.014410	0	0
PTPRK	5796	broad.mit.edu	37	6	128316682	128316682	+	Splice_Site	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:128316682A>C	ENST00000368227.3	-	19	3171	c.2803_splice	c.e19-1	p.Y935_splice	PTPRK_ENST00000368207.3_Splice_Site_p.Y949_splice|PTPRK_ENST00000368215.3_Splice_Site_p.Y922_splice|PTPRK_ENST00000368213.5_Splice_Site_p.Y923_splice|PTPRK_ENST00000368226.4_Splice_Site_p.Y923_splice|PTPRK_ENST00000532331.1_Splice_Site_p.Y939_splice|PTPRK_ENST00000368210.3_Splice_Site_p.Y935_splice			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	922	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGGAGTGATCATCtaaaattt	0.323000													3	3					0	0	0.009096	0	0
FADS6	283985	broad.mit.edu	37	17	72878757	72878757	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:72878757C>T	ENST00000310226.6	-	3	455	c.441G>A	c.(439-441)ggG>ggA	p.G147G		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	153					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCTGGAGTCCCCCAGGCCCA	0.612000													8	7					0	0	0.003080	0	0
TRBV28	28559	broad.mit.edu	37	7	142428841	142428841	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:142428841C>T	ENST00000390400.2	+	0	221																											TGATCTATTTCTCATATGATG	0.453000													17	13					0	0	0.008871	0	0
DNAJC12	56521	broad.mit.edu	37	10	69571261	69571261	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:69571261C>T	ENST00000339758.7	-	3	402	c.318G>A	c.(316-318)gcG>gcA	p.A106A	DNAJC12_ENST00000225171.2_Intron|DNAJC12_ENST00000483798.2_Intron	NM_201262.1	NP_957714.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	0					protein folding		heat shock protein binding|unfolded protein binding	p.A106A(1)		breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						AAATTCACGTCGCACCCAGCG	0.502000													22	75					0	0	0.005443	0	0
MYO5B	4645	broad.mit.edu	37	18	47479645	47479645	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:47479645G>A	ENST00000285039.7	-	14	2036	c.1737C>T	c.(1735-1737)atC>atT	p.I579I		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	579	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGCCTTCAGGATATTGATCT	0.537000													30	25					0	0	0.012213	0	0
PDZD2	23037	broad.mit.edu	37	5	32088277	32088277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:32088277G>A	ENST00000438447.1	+	20	5111	c.4723G>A	c.(4723-4725)Gac>Aac	p.D1575N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D1575N			O15018	PDZD2_HUMAN	PDZ domain containing 2	1575					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTCTGCCAGGGACGGCTGGTC	0.557000													39	40					0	0	0.010771	0	0
DDI1	414301	broad.mit.edu	37	11	103908010	103908010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:103908010C>T	ENST00000302259.3	+	1	703	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	154					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCTCTCCAACCCCCACGATCT	0.647000													22	26					0	0	0.003330	0	0
FAT3	120114	broad.mit.edu	37	11	92600312	92600312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:92600312C>T	ENST00000298047.6	+	21	12081	c.12064C>T	c.(12064-12066)Ccc>Tcc	p.P4022S	FAT3_ENST00000533797.1_Missense_Mutation_p.P357S|FAT3_ENST00000409404.2_Missense_Mutation_p.P4022S|FAT3_ENST00000525166.1_Missense_Mutation_p.P3872S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4022	EGF-like 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGTGCTCTATCCCGACGCCTG	0.662000										TCGA Ovarian(4;0.039)			21	31					0	0	0.002780	0	0
UTP14C	9724	broad.mit.edu	37	13	52604717	52604717	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:52604717A>T	ENST00000521776.2	+	2	2510	c.1777A>T	c.(1777-1779)Atg>Ttg	p.M593L		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	593					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCAAAGGCAGATGATAAAGGA	0.488000													22	23					0	0	0.003330	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028558	142028558	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:142028558G>A	ENST00000390353.2	+	0	349																											GCTCAGGCTGGAGTCGGCTGC	0.537000													53	52					0	0	0.014410	0	0
RP1	6101	broad.mit.edu	37	8	55542494	55542494	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:55542494G>T	ENST00000220676.1	+	4	6200	c.6052G>T	c.(6052-6054)Gaa>Taa	p.E2018*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2018					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTAGAGGAAGAAGGTAATTT	0.308000													27	15					9.80776e-20	1.31617e-19	0.006320	1	0
LMTK2	22853	broad.mit.edu	37	7	97823288	97823288	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:97823288T>A	ENST00000297293.5	+	11	3804	c.3511T>A	c.(3511-3513)Tcc>Acc	p.S1171T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1171					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTTGCACAACTCCAGTGACCT	0.592000													28	21					0	0	0.008361	0	0
COL1A2	1278	broad.mit.edu	37	7	94024277	94024277	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:94024277G>A	ENST00000297268.6	+	0	405					NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCGCCCGCCAGGTGATACCTC	0.567000										HNSCC(75;0.22)	OREG0018169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	15					0	0	0.006122	0	0
DKK4	27121	broad.mit.edu	37	8	42231868	42231868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:42231868C>T	ENST00000220812.2	-	4	611	c.425G>A	c.(424-426)gGa>gAa	p.G142E		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	142					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACAACTTTCTCCCTCTTGTCC	0.468000													16	2					0	0	0.006122	0	0
CTRB1	1504	broad.mit.edu	37	16	75252937	75252937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:75252937C>T	ENST00000361017.4	+	1	40	c.32C>T	c.(31-33)tCc>tTc	p.S11F		NM_001906.4	NP_001897.4			chymotrypsinogen B1											central_nervous_system(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.166)		TCCTGCTTCTCCCTTGTGGGG	0.677000													3	0					0	0	0.004672	0	0
KCNQ2	3785	broad.mit.edu	37	20	62076635	62076635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:62076635C>T	ENST00000354587.3	-	3	646	c.470G>A	c.(469-471)tGg>tAg	p.W157*	KCNQ2_ENST00000344462.3_Nonsense_Mutation_p.W157*|KCNQ2_ENST00000359689.1_Nonsense_Mutation_p.W157*|KCNQ2_ENST00000360480.3_Nonsense_Mutation_p.W157*|KCNQ2_ENST00000370226.1_Nonsense_Mutation_p.W157*|KCNQ2_ENST00000357249.2_Nonsense_Mutation_p.W157*|KCNQ2_ENST00000430658.1_Nonsense_Mutation_p.W157*|KCNQ2_ENST00000370222.3_Nonsense_Mutation_p.W157*|KCNQ2_ENST00000359125.2_Nonsense_Mutation_p.W157*|KCNQ2_ENST00000370224.1_Nonsense_Mutation_p.W157*|KCNQ2_ENST00000370221.1_Nonsense_Mutation_p.W157*|KCNQ2_ENST00000344425.5_Nonsense_Mutation_p.W157*			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	157					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCGCCCCCTCCAGCCACGGTA	0.617000													29	28					0	0	0.009535	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42287557	42287557	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:42287557C>T	ENST00000399518.3	-	12	1734		c.e12+1		PLA2G4E_ENST00000413860.2_Splice_Site|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE						phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGTCTCCTTACCAGGTGGCCC	0.602000													29	7					0	0	0.013726	0	0
PALMD	54873	broad.mit.edu	37	1	100154781	100154781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:100154781C>T	ENST00000263174.4	+	7	1340	c.965C>T	c.(964-966)cCc>cTc	p.P322L	PALMD_ENST00000605497.1_Missense_Mutation_p.P322L	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	322					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CACATCAGTCCCATTCCGCCA	0.438000													14	0					0	0	0.002450	0	0
CTSA	5476	broad.mit.edu	37	20	44521078	44521078	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:44521078C>T	ENST00000372484.3	+	5	735	c.453C>T	c.(451-453)ggC>ggT	p.G151G	CTSA_ENST00000191018.5_Silent_p.G133G|CTSA_ENST00000372459.2_Silent_p.G133G|CTSA_ENST00000354880.5_Silent_p.G134G	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	133					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTGGGGTGGGCTTCTCCTACT	0.547000													14	58					0	0	0.004990	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42280281	42280281	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:42280281G>A	ENST00000399518.3	-	16	2283	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F	PLA2G4E_ENST00000413860.2_Silent_p.F570F|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	587	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TCCACCTGTGGAAAAACTCCT	0.617000													6	4					0	0	0.001984	0	0
SYNE2	23224	broad.mit.edu	37	14	64460552	64460552	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:64460552G>A	ENST00000357395.3	+	22	2876		c.e22-1		SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000344113.4_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			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)		TTTTTTTTTAGGAAGCACTAA	0.294000													6	1					0	0	0.001984	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103060423	103060423	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:103060423C>A	ENST00000375735.2	+	45	7459	c.7315C>A	c.(7315-7317)Caa>Aaa	p.Q2439K	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q2439K|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2439	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|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)		AGAGCAGTTACAAACGATTTA	0.294000													16	18					9.16793e-09	1.21923e-08	0.004990	1	0
AGTPBP1	23287	broad.mit.edu	37	9	88257852	88257852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:88257852C>T	ENST00000357081.3	-	13	1336	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.D236N|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.D410N|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.D358N			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	398				DI -> KK (in Ref. 7; CAH56222).	C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GTTTCAATATCATCATTCTGA	0.279000													10	25					0	0	0.006214	0	0
PRKCI	5584	broad.mit.edu	37	3	169998140	169998140	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:169998140T>C	ENST00000295797.4	+	9	1136	c.831T>C	c.(829-831)gaT>gaC	p.D277D		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	277	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAAAAACAGATCGTATTTATG	0.353000													23	14					0	0	0.003330	0	0
MCM6	4175	broad.mit.edu	37	2	136627886	136627886	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:136627886G>A	ENST00000264156.2	-	3	360	c.300C>T	c.(298-300)gaC>gaT	p.D100D		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	100					cell cycle checkpoint|DNA strand elongation involved in DNA replication|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	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCTCTTTACGGTCTTTGACGA	0.433000													132	93					0	0	0.014410	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755634	91755634	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:91755634T>A	ENST00000389857.6	-	25	4342	c.4256A>T	c.(4255-4257)aAa>aTa	p.K1419I		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1419					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CGAACCCTCTTTCTTTGGTTT	0.562000													113	136					0	0	0.014410	0	0
NLRP3	114548	broad.mit.edu	37	1	247587658	247587658	+	Missense_Mutation	SNP	G	G	A	rs121908153		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:247587658G>A	ENST00000366497.2	+	4	1693	c.913G>A	c.(913-915)Gat>Aat	p.D305N	NLRP3_ENST00000391827.2_Missense_Mutation_p.D305N|NLRP3_ENST00000391828.3_Missense_Mutation_p.D305N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.D305N|NLRP3_ENST00000336119.3_Missense_Mutation_p.D305N|NLRP3_ENST00000348069.2_Missense_Mutation_p.D305N	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	305	NACHT.		D -> G (in CINCA).|D -> N (in CINCA and MWS).		detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGACGGCTTCGATGAGCTGCA	0.577000													18	47					0	0	0.002780	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622078	65622078	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:65622078G>A	ENST00000327987.4	-	12	2234	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	661										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCTTTGGCCGAACAGGAGGA	0.627000													16	10					0	0	0.004007	0	0
STOML1	9399	broad.mit.edu	37	15	74284493	74284493	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:74284493G>A	ENST00000316900.5	-	1	196	c.72C>T	c.(70-72)ggC>ggT	p.G24G	STOML1_ENST00000564777.1_Silent_p.G24G|STOML1_ENST00000541638.1_5'UTR|STOML1_ENST00000359750.4_Silent_p.G24G|STOML1_ENST00000316911.6_Silent_p.G24G|STOML1_ENST00000561656.1_Intron	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	24						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						AGCCCAGAAAGCCGAAGCTCG	0.716000													46	4					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25315660	25315660	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:25315660C>T	ENST00000549804.2	+	0	678				SNORD116-8_ENST00000384365.1_RNA|SNHG14_ENST00000551077.1_RNA																							TCGTTCTCATCGGAACTGAGG	0.493000													19	41					0	0	0.012319	0	0
MAP3K9	4293	broad.mit.edu	37	14	71215635	71215635	+	Missense_Mutation	SNP	C	C	T	rs66654995		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:71215635C>T	ENST00000554752.2	-	5	1236	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	MAP3K9_ENST00000555993.2_Missense_Mutation_p.E413K|MAP3K9_ENST00000554146.1_Missense_Mutation_p.E150K|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E413K|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E107K			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	413					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTGGGCATTTCAAAGAAACCA	0.473000													62	80					0	0	0.014410	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	570473	570473	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:570473G>A	ENST00000262305.4	+	13	2419	c.2031G>A	c.(2029-2031)ctG>ctA	p.L677L	RAB11FIP3_ENST00000450428.1_Silent_p.L381L|RAB11FIP3_ENST00000457159.1_Silent_p.L722L	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	677					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				ACCGCAACCTGAAGGAGCAGA	0.607000													30	40					0	0	0.013726	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786716	121786716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:121786716C>T	ENST00000261367.7	+	12	3743	c.2315C>T	c.(2314-2316)aCc>aTc	p.T772I	SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.T725I|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.T772I|SNCAIP_ENST00000414317.2_Missense_Mutation_p.T327I|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.T665I|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.T283I|SNCAIP_ENST00000379538.3_Missense_Mutation_p.T359I|CTC-210G5.1_ENST00000503529.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	725					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AAGAAACACACCTTGGCATCA	0.562000													16	26					0	0	0.006122	0	0
DBH	1621	broad.mit.edu	37	9	136516836	136516836	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:136516836G>A	ENST00000393056.2	+	7	1284	c.1272G>A	c.(1270-1272)ctG>ctA	p.L424L		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	424					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TCACAGTGCTGGTCCGGGACG	0.652000													13	3					0	0	0.013537	0	0
CDC45	8318	broad.mit.edu	37	22	19483551	19483551	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:19483551C>T	ENST00000407835.1	+	8	846	c.591_splice	c.e8+1	p.S197_splice	CDC45_ENST00000437685.2_Splice_Site_p.S229_splice|CDC45_ENST00000404724.3_Splice_Site_p.S151_splice|CDC45_ENST00000263201.1_Splice_Site_p.S197_splice			O75419	CDC45_HUMAN	cell division cycle 45	197					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CATGGGACATCGGTAAGTATG	0.423000													61	61					0	0	0.014410	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50474566	50474566	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50474566G>A	ENST00000602139.1	+	0	923									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						AAGGGCCGGGGATTCAGGGCG	0.682000													17	21					0	0	0.004990	0	0
SPTA1	6708	broad.mit.edu	37	1	158605765	158605765	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:158605765G>A	ENST00000368148.3	-	38	5550	c.5370C>T	c.(5368-5370)atC>atT	p.I1790I	SPTA1_ENST00000368147.3_Silent_p.I1790I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1790					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCGCAACTGGATCTCCTCTT	0.527000													65	38					0	0	0.014410	0	0
MYO18B	84700	broad.mit.edu	37	22	26228958	26228958	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:26228958C>T	ENST00000335473.7	+	16	3304	c.3054C>T	c.(3052-3054)ccC>ccT	p.P1018P	MYO18B_ENST00000407587.2_Silent_p.P1018P|MYO18B_ENST00000536101.1_Silent_p.P1018P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATCAAAATCCCTCTCAGGTAA	0.498000													27	33					0	0	0.010818	0	0
SMPD4	55627	broad.mit.edu	37	2	130914230	130914230	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:130914230G>A	ENST00000409031.1	-	13	2381	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	SMPD4_ENST00000443958.2_Silent_p.F75F|SMPD4_ENST00000426662.2_Silent_p.F47F|SMPD4_ENST00000431183.2_Silent_p.F309F|SMPD4_ENST00000453750.1_Silent_p.F160F|SMPD4_ENST00000452225.2_Silent_p.F152F|SMPD4_ENST00000339679.7_Silent_p.F269F|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000351288.6_Silent_p.F382F	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	372					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	TCTGCTGGACGAACCTCGGGA	0.617000													5	6					0	0	0.001168	0	0
LPPR2	64748	broad.mit.edu	37	19	11470540	11470540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:11470540C>T	ENST00000251473.5	+	5	675	c.299C>T	c.(298-300)cCt>cTt	p.P100L	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.P75L	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CCTGCACCACCTTCAGCCGTC	0.647000													11	18					0	0	0.010729	0	0
ZFP42	132625	broad.mit.edu	37	4	188924206	188924206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:188924206C>T	ENST00000326866.4	+	4	653	c.245C>T	c.(244-246)tCt>tTt	p.S82F	ZFP42_ENST00000509524.1_Missense_Mutation_p.S82F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	82					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGTGAGTTTTCTCAACCCATC	0.458000													26	66					0	0	0.006320	0	0
PLD2	5338	broad.mit.edu	37	17	4713297	4713297	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4713297A>T	ENST00000263088.6	+	9	964	c.833A>T	c.(832-834)cAc>cTc	p.H278L	PLD2_ENST00000572940.1_Missense_Mutation_p.H278L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	278	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GAGGCACGGCACGGCGTGCGG	0.597000													18	8					0	0	0.004990	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185270669	185270669	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:185270669A>G	ENST00000367498.3	-	9	1414	c.792T>C	c.(790-792)caT>caC	p.H264H	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.H46H	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	264	Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTATCTGCTTATGGCCATTCT	0.423000													6	8					0	0	0.001984	0	0
IRX4	50805	broad.mit.edu	37	5	1879842	1879842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:1879842G>A	ENST00000505790.1	-	5	968	c.512C>T	c.(511-513)aCc>aTc	p.T171I	IRX4_ENST00000513692.1_Missense_Mutation_p.T171I|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.T171I	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	171					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CTCGCCCTTGGTGGGGTAGGG	0.642000													39	52					0	0	0.009718	0	0
CACNA1D	776	broad.mit.edu	37	3	53845206	53845206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:53845206G>A	ENST00000288139.3	+	49	6437	c.6319G>A	c.(6319-6321)Gaa>Aaa	p.E2107K	CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000350061.5_Missense_Mutation_p.E2087K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E2063K	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2087					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AACAAAACACGAAATCGCTGA	0.552000													33	17					0	0	0.003271	0	0
PROX2	283571	broad.mit.edu	37	14	75330268	75330268	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:75330268C>T	ENST00000556084.2	-	1	269	c.270G>A	c.(268-270)ggG>ggA	p.G90G	PROX2_ENST00000445876.1_Silent_p.G90G|PROX2_ENST00000556489.2_Silent_p.G90G	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	90					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GTGGGCTGACCCCAGCTTGCG	0.622000													8	8					0	0	0.006214	0	0
MIR520C	574476	broad.mit.edu	37	19	54210770	54210770	+	RNA	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:54210770C>G	ENST00000385005.1	+	0	64					NR_030198.1																						AAAGTGCTTCCTTTTAGAGGG	0.418000													23	25					0	0	0.002780	0	0
PSG7	5676	broad.mit.edu	37	19	43430737	43430737	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:43430737G>A	ENST00000446844.3	-	0	930				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGACTGACCGGGAGGCTCTGA	0.468000													119	131					0	0	0.014410	0	0
CUL9	23113	broad.mit.edu	37	6	43155681	43155681	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:43155681C>T	ENST00000252050.4	+	7	1896	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	CUL9_ENST00000372647.2_Silent_p.F604F|CUL9_ENST00000354495.3_Silent_p.F494F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	604					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGGCCAGCTTCTCAGAGGAAG	0.562000													16	20					0	0	0.003163	0	0
PARP4	143	broad.mit.edu	37	13	25058797	25058797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:25058797G>A	ENST00000381989.3	-	12	1547	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	481	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ATACCTGAGCGAATCACTGAA	0.418000													44	164					0	0	0.014410	0	0
MAS1L	116511	broad.mit.edu	37	6	29454781	29454781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:29454781G>A	ENST00000377127.3	-	1	957	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	300						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GAGGAACAAGGAAATTAAATA	0.468000													17	14					0	0	0.006122	0	0
ESF1	51575	broad.mit.edu	37	20	13763243	13763243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:13763243C>T	ENST00000202816.1	-	2	651	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TGTTTTTCTTCGAGAGAAGAG	0.348000													24	28					0	0	0.014323	0	0
ATAD3B	83858	broad.mit.edu	37	1	1417678	1417678	+	Silent	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:1417678C>A	ENST00000308647.7	+	6	791	c.675C>A	c.(673-675)tcC>tcA	p.S225S	ATAD3B_ENST00000378736.2_3'UTR|ATAD3B_ENST00000378741.3_Silent_p.S57S	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	225							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCTTGGAGTCCATCAGGTGAG	0.697000													9	25					3.07112e-06	4.06796e-06	0.010729	1	0
ANKRD26	22852	broad.mit.edu	37	10	27366409	27366409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:27366409G>A	ENST00000376087.4	-	9	1100	c.935C>T	c.(934-936)tCc>tTc	p.S312F	ANKRD26_ENST00000436985.2_Missense_Mutation_p.S361F|ANKRD26_ENST00000466890.1_5'UTR	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	312						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTGACTATCGGAATCTCTATC	0.363000													36	37					0	0	0.005524	0	0
LAMA5	3911	broad.mit.edu	37	20	60901953	60901953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:60901953G>A	ENST00000252999.3	-	39	5248	c.5182C>T	c.(5182-5184)Ccc>Tcc	p.P1728S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1728	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTCCATGGGGACAAAGACA	0.632000													28	77					0	0	0.013726	0	0
CCM2L	140706	broad.mit.edu	37	20	30610566	30610566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:30610566C>T	ENST00000300415.8	+	6	1050	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	CCM2L_ENST00000262659.8_Missense_Mutation_p.S346F					cerebral cavernous malformation 2-like																		CACTACACATCCACACCTGAA	0.577000													13	14					0	0	0.002450	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262864	144262864	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:144262864C>T	ENST00000360537.2	-	5	3002	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	PLAGL1_ENST00000437412.1_Silent_p.K311K|PLAGL1_ENST00000444202.1_Silent_p.K363K|PLAGL1_ENST00000392309.1_Silent_p.K363K|PLAGL1_ENST00000416623.1_Silent_p.K363K|PLAGL1_ENST00000354765.2_Silent_p.K363K|PLAGL1_ENST00000429150.1_Silent_p.K363K|PLAGL1_ENST00000367571.1_Silent_p.K363K|PLAGL1_ENST00000367572.1_Silent_p.K311K|PLAGL1_ENST00000392307.1_Silent_p.K311K			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	363					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CAGGCAGCTCCTTGGGCAGGT	0.532000													222	270					0	0	0.014410	0	0
MYH13	8735	broad.mit.edu	37	17	10250066	10250066	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10250066C>T	ENST00000418404.3	-	12	1357	c.1194G>A	c.(1192-1194)ctG>ctA	p.L398L	MYH13_ENST00000570743.1_Silent_p.L398L|MYH13_ENST00000252172.4_Silent_p.L398L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	398	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAGGCCCTTCAGCATTTCTG	0.453000													13	21					0	0	0.001855	0	0
POSTN	10631	broad.mit.edu	37	13	38160383	38160383	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:38160383A>G	ENST00000379747.4	-	7	905	c.788T>C	c.(787-789)cTt>cCt	p.L263P	POSTN_ENST00000541481.1_Missense_Mutation_p.L263P|POSTN_ENST00000541179.1_Missense_Mutation_p.L263P|POSTN_ENST00000379743.4_Missense_Mutation_p.L263P|POSTN_ENST00000379749.4_Missense_Mutation_p.L263P|POSTN_ENST00000379742.4_Missense_Mutation_p.L263P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	263	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GTCTCTTCCAAGGGCCTCCAA	0.458000													11	24					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9070817	9070817	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9070817G>A	ENST00000397910.4	-	3	16832	c.16629C>T	c.(16627-16629)atC>atT	p.I5543I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5545	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						TTCCTGTGGAGATGTCGGGTG	0.507000													42	46					0	0	0.010771	0	0
PCNXL3	399909	broad.mit.edu	37	11	65386194	65386194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:65386194C>T	ENST00000355703.3	+	6	1900	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	454	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCCTGCTACTCCCCTGAGAGC	0.652000													10	10					0	0	0.008291	0	0
CES2	8824	broad.mit.edu	37	16	66974489	66974489	+	Missense_Mutation	SNP	C	C	T	rs145407778	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:66974489C>T	ENST00000317091.4	+	5	1883	c.899C>T	c.(898-900)tCg>tTg	p.S300L	CES2_ENST00000417689.1_Missense_Mutation_p.S300L	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	236					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		AGTGTGTCTTCGCTTGTTGTG	0.597000													37	0					0	0	0.009718	0	0
TLL1	7092	broad.mit.edu	37	4	167021969	167021969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:167021969G>A	ENST00000061240.2	+	21	3630	c.2983G>A	c.(2983-2985)Gga>Aga	p.G995R	TLL1_ENST00000507499.1_Missense_Mutation_p.G1018R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	995	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CAACAAGAAGGGATTTCATAT	0.343000													12	9					0	0	0.013537	0	0
LAMA2	3908	broad.mit.edu	37	6	129824425	129824425	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:129824425G>A	ENST00000421865.2	+	60	8596	c.8547_splice	c.e60+1	p.K2849_splice		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2849	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGTGGCACAAGGTAATAGTCC	0.507000													11	9					0	0	0.013537	0	0
C20orf194	25943	broad.mit.edu	37	20	3268354	3268354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:3268354C>T	ENST00000252032.9	-	27	2477	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	804										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGCTGGGCCTCTAGGGCACTG	0.517000													57	57					0	0	0.014410	0	0
NPAP1	23742	broad.mit.edu	37	15	24922995	24922995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:24922995C>T	ENST00000329468.2	+	1	2455	c.1981C>T	c.(1981-1983)Ctc>Ttc	p.L661F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GAAAGCTTCTCTCCCCAGTGC	0.507000													55	51					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179434450	179434450	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179434450T>C	ENST00000589042.1	-	326	76633	c.76409A>G	c.(76408-76410)aAg>aGg	p.K25470R	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K16405R|TTN_ENST00000359218.5_Missense_Mutation_p.K16530R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K16597R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K22902R|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K23829R|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23829	Fibronectin type-III 85.						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)			TTCCAACAGCTTCTCTACTTC	0.378000													3	7					0	0	0.004672	0	0
CALY	50632	broad.mit.edu	37	10	135140382	135140382	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:135140382C>T	ENST00000252939.4	-	4	453	c.360_splice	c.e4+1	p.R120_splice	CALY_ENST00000368556.2_Splice_Site_p.R120_splice|ZNF511_ENST00000368554.4_Intron|CALY_ENST00000368558.1_Splice_Site_p.R120_splice	NM_015722.3	NP_056537.1	Q9NYX4	CALY_HUMAN	calcyon neuron-specific vesicular protein	120					clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis	cytoplasmic vesicle membrane|integral to plasma membrane	clathrin light chain binding|dopamine receptor binding			kidney(1)|lung(2)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831)	GCCCCCTTACCCGCAGCAGGA	0.672000													5	15					0	0	0.000602	0	0
PPM1J	333926	broad.mit.edu	37	1	113255384	113255384	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:113255384C>T	ENST00000464951.1	-	4	1501	c.93G>A	c.(91-93)gaG>gaA	p.E31E	PPM1J_ENST00000309276.6_Silent_p.E237E|PPM1J_ENST00000359994.4_Silent_p.E31E			Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	237								p.E237D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAAGGCATTCTCAACGGCCC	0.597000													62	20					0	0	0.014410	0	0
ENGASE	64772	broad.mit.edu	37	17	77082217	77082217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:77082217C>T	ENST00000579016.1	+	14	2018	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	673						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGTGATGACTCTCCGGGCAGG	0.627000													23	29					0	0	0.012319	0	0
ZNF682	91120	broad.mit.edu	37	19	20117045	20117045	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:20117045C>A	ENST00000397165.2	-	4	1426	c.1266G>T	c.(1264-1266)gaG>gaT	p.E422D	ZNF682_ENST00000597972.1_Missense_Mutation_p.E428D|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.E346D|ZNF682_ENST00000397162.1_Missense_Mutation_p.E390D|ZNF682_ENST00000358523.5_Missense_Mutation_p.E390D	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TGTAGGGTTTCTCTCCAGTAT	0.393000													12	38					4.84862e-15	6.49359e-15	0.010729	1	0
SERPINB3	6317	broad.mit.edu	37	18	61328320	61328320	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:61328320C>G	ENST00000283752.5	-	2	274	c.131G>C	c.(130-132)gGa>gCa	p.G44A	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.G44A	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	44					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GTCTTTGGCTCCTAAGAGGAC	0.438000													6	8					0	0	0.001984	0	0
SNHG14	104472715	broad.mit.edu	37	15	25457020	25457020	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:25457020G>A	ENST00000424208.1	+	0	2516				SNHG14_ENST00000424333.1_RNA|SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						ATTACGCTGAGGCCCAACCTA	0.532000													40	77					0	0	0.014410	0	0
C1orf123	54987	broad.mit.edu	37	1	53684091	53684091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:53684091G>A	ENST00000294360.4	-	4	265	c.224C>T	c.(223-225)tCc>tTc	p.S75F	C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	75										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						CCTACCGATGGAATTTTCTCT	0.547000													31	20					0	0	0.003271	0	0
OR2A12	346525	broad.mit.edu	37	7	143792412	143792412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:143792412C>T	ENST00000408949.2	+	1	272	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GTGGACATGTCCTATGCCTCG	0.453000													31	22					0	0	0.007291	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171246	68171246	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:68171246C>T	ENST00000243457.3	+	2	449	c.66C>T	c.(64-66)gcC>gcT	p.A22A	KCNJ2_ENST00000535240.1_Silent_p.A22A	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	22					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TGAAGTTGGCCACCATGGCAG	0.532000													15	22					0	0	0.003163	0	0
MGA	23269	broad.mit.edu	37	15	42054352	42054352	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:42054352G>A	ENST00000219905.7	+	22	7717	c.7536G>A	c.(7534-7536)aaG>aaA	p.K2512K	MGA_ENST00000545763.1_Silent_p.K2303K|MGA_ENST00000389936.4_Silent_p.K2473K|MGA_ENST00000566586.1_Silent_p.K2303K|MGA_ENST00000570161.1_Silent_p.K2512K	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2473						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGGTCCTGAAGAAGCTAGAGT	0.373000													19	3					0	0	0.008871	0	0
PLA2G1B	5319	broad.mit.edu	37	12	120760022	120760022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:120760022C>T	ENST00000308366.4	-	4	456	c.421G>A	c.(421-423)Gac>Aac	p.D141N	PLA2G1B_ENST00000423423.3_3'UTR|PLA2G1B_ENST00000549767.1_Missense_Mutation_p.D112N	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	141					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTTGGTGTCCAGGTTCTTG	0.443000													34	112					0	0	0.004878	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501838	140501838	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140501838G>A	ENST00000194152.1	+	1	258	c.258G>A	c.(256-258)agG>agA	p.R86R		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		86	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTTCTGAGGGAGAAACTAG	0.522000													27	31					0	0	0.008361	0	0
LMBR1	64327	broad.mit.edu	37	7	156518178	156518178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:156518178C>T	ENST00000353442.4	-	14	1345	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q	LMBR1_ENST00000461603.1_5'UTR|LMBR1_ENST00000540390.1_Missense_Mutation_p.R349Q|LMBR1_ENST00000359422.4_Missense_Mutation_p.R218Q|LMBR1_ENST00000354505.4_Missense_Mutation_p.R411Q	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	370						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)		TCCAAAAAATCGAAGGCTATA	0.428000													17	22					0	0	0.008871	0	0
CIC	23152	broad.mit.edu	37	19	42797226	42797226	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:42797226C>T	ENST00000572681.2	+	16	6377	c.6309C>T	c.(6307-6309)gcC>gcT	p.A2103A	CIC_ENST00000160740.3_Silent_p.A1194A|CIC_ENST00000575354.2_Silent_p.A1196A			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGCAGGTGCCTCTGGGCGGC	0.697000			"""Mis, F, S"""		oligodendroglioma								9	16					0	0	0.008291	0	0
SOCS6	9306	broad.mit.edu	37	18	67993350	67993350	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:67993350T>C	ENST00000397942.3	+	2	1762	c.1446T>C	c.(1444-1446)acT>acC	p.T482T	SOCS6_ENST00000582322.1_Silent_p.T482T	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	482	SH2.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GATCTGCAACTTACCCCGTCA	0.468000													29	22					0	0	0.012213	0	0
HAP1	9001	broad.mit.edu	37	17	39884019	39884019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:39884019C>T	ENST00000310778.5	-	8	1279	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.E424K|HAP1_ENST00000393939.2_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	424	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTCACCTCTTCCTGGAGCTGC	0.607000													13	9					0	0	0.003163	0	0
TDRD1	56165	broad.mit.edu	37	10	115981144	115981144	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:115981144G>A	ENST00000251864.2	+	20	2952	c.2799G>A	c.(2797-2799)acG>acA	p.T933T	TDRD1_ENST00000369280.1_Silent_p.T933T|TDRD1_ENST00000369281.2_Silent_p.T819T|TDRD1_ENST00000422662.1_Silent_p.T537T|TDRD1_ENST00000369282.1_Silent_p.T933T	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	933					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AATGGAAGACGATAGAATTGC	0.368000													24	23					0	0	0.003330	0	0
LEPRE1	64175	broad.mit.edu	37	1	43228090	43228090	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:43228090A>G	ENST00000236040.4	-	2	562	c.522T>C	c.(520-522)ccT>ccC	p.P174P	LEPRE1_ENST00000296388.5_Silent_p.P174P|LEPRE1_ENST00000397054.3_Silent_p.P174P	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	174					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCATGTGCTCAGGATTGCCCA	0.468000													43	98					0	0	0.009718	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102481642	102481642	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:102481642G>A	ENST00000360184.4	+	35	7379	c.7215G>A	c.(7213-7215)ggG>ggA	p.G2405G		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2405	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGATGAGGGGGAGGAGGCCG	0.597000													14	6					0	0	0.003163	0	0
SNX15	29907	broad.mit.edu	37	11	64800008	64800008	+	Missense_Mutation	SNP	C	C	T	rs142024969	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:64800008C>T	ENST00000377244.3	+	3	371	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	81	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TGCTTTCCCCCGGGCCCAGGT	0.627000													15	28					0	0	0.004990	0	0
SLC4A4	8671	broad.mit.edu	37	4	72338550	72338550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:72338550C>T	ENST00000340595.3	+	11	1830	c.1634C>T	c.(1633-1635)tCc>tTc	p.S545F	SLC4A4_ENST00000425175.1_Missense_Mutation_p.S589F|SLC4A4_ENST00000512686.1_Missense_Mutation_p.S545F|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S589F|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S589F	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	589						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAGGGCTTTTCCTCTCTGATT	0.453000													4	6					0	0	0.009096	0	0
AREL1	9870	broad.mit.edu	37	14	75179797	75179797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:75179797G>A	ENST00000338772.5	-	1	3	c.4C>T	c.(4-6)Ctt>Ttt	p.L2F	AREL1_ENST00000356357.4_5'UTR|AREL1_ENST00000557401.1_5'UTR																							CTTTCCCCAAGGAGTTTCCGC	0.587000													16	17					0	0	0.003163	0	0
LRP5	4041	broad.mit.edu	37	11	68216449	68216449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:68216449G>A	ENST00000294304.7	+	23	4865	c.4759G>A	c.(4759-4761)Gag>Aag	p.E1587K	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1587	Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGTCGGCGGAGGACAGCTG	0.677000													19	40					0	0	0.008871	0	0
EIF4A2	1974	broad.mit.edu	37	3	186502263	186502263	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:186502263C>T	ENST00000323963.5	+	2	136	c.72C>T	c.(70-72)atC>atT	p.I24I	EIF4A2_ENST00000440191.2_Silent_p.I25I|EIF4A2_ENST00000356531.5_5'UTR			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	24					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ATGGTGTCATCGAGGTAAGAA	0.478000			T	BCL6	NHL								50	26					0	0	0.014410	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051474	38051474	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:38051474T>C	ENST00000261439.4	+	11	2220	c.1865T>C	c.(1864-1866)cTt>cCt	p.L622P	TBC1D1_ENST00000508802.1_Missense_Mutation_p.L622P	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	622						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CAAAGGAAACTTATGAGGTAT	0.512000													18	48					0	0	0.008871	0	0
CATSPERB	79820	broad.mit.edu	37	14	92055886	92055886	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:92055886C>T	ENST00000256343.3	-	24	3104	c.2948G>A	c.(2947-2949)tGg>tAg	p.W983*		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	983					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				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)				ACTCAGTTTCCAGTTGTGCCT	0.373000													26	24					0	0	0.007291	0	0
DLG4	1742	broad.mit.edu	37	17	7095250	7095250	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7095250G>A	ENST00000399510.2	-	20	2919	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	DLG4_ENST00000399506.2_Silent_p.I646I|DLG4_ENST00000302955.6_Silent_p.I643I	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	646	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TGAAGATGGCGATGGGGTGCA	0.692000													56	33					0	0	0.014410	0	0
COL6A2	1292	broad.mit.edu	37	21	47541503	47541503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:47541503C>T	ENST00000300527.4	+	18	1596	c.1492C>T	c.(1492-1494)Cgt>Tgt	p.R498C	COL6A2_ENST00000409416.1_Missense_Mutation_p.R498C|COL6A2_ENST00000310645.5_Missense_Mutation_p.R498C|COL6A2_ENST00000357838.4_Missense_Mutation_p.R498C|COL6A2_ENST00000397763.1_Missense_Mutation_p.R498C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	498	Triple-helical region.		R -> H (in UCMD).		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)		TGCAGGACCCCGTGGAGACTC	0.657000													19	9					0	0	0.004656	0	0
FHDC1	85462	broad.mit.edu	37	4	153864526	153864526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:153864526C>T	ENST00000511601.1	+	2	505	c.317C>T	c.(316-318)cCg>cTg	p.P106L	FHDC1_ENST00000260008.3_Missense_Mutation_p.P106L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	106	FH2.				actin cytoskeleton organization		actin binding	p.P106L(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAAACTATTCCGGAGGAGCAA	0.502000													70	166					0	0	0.014410	0	0
GABRA1	2554	broad.mit.edu	37	5	161300198	161300198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:161300198C>T	ENST00000428797.2	+	6	686	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	GABRA1_ENST00000420560.1_Missense_Mutation_p.L111F|GABRA1_ENST00000444819.1_Missense_Mutation_p.L111F|GABRA1_ENST00000023897.6_Missense_Mutation_p.L111F|GABRA1_ENST00000393943.4_Missense_Mutation_p.L111F|GABRA1_ENST00000437025.2_Missense_Mutation_p.L111F	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	111					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TATGACAGTCCTCCGGTTAAA	0.388000													24	27					0	0	0.014323	0	0
SSU72	29101	broad.mit.edu	37	1	1480294	1480294	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:1480294A>T	ENST00000291386.3	-	3	624	c.313T>A	c.(313-315)Ttt>Att	p.F105I		NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	105					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-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;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ATCAGATCAAACAGGTCTTTG	0.517000													103	59					0	0	0.014410	0	0
WWC1	23286	broad.mit.edu	37	5	167882443	167882443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:167882443C>T	ENST00000265293.4	+	19	3243	c.2741C>T	c.(2740-2742)tCc>tTc	p.S914F	WWC1_ENST00000521089.1_Missense_Mutation_p.S914F|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	914	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGCACCCCGTCCCAGGGGCCA	0.632000													42	53					0	0	0.014410	0	0
DDX23	9416	broad.mit.edu	37	12	49231067	49231067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:49231067G>A	ENST00000308025.3	-	8	942	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	288						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CACTCACAGGGGGTTGTAGTC	0.507000													18	60					0	0	0.006122	0	0
NEIL1	79661	broad.mit.edu	37	15	75647321	75647321	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:75647321G>A	ENST00000564784.1	+	11	1748	c.1119G>A	c.(1117-1119)cgG>cgA	p.R373R	NEIL1_ENST00000355059.4_Silent_p.R373R|NEIL1_ENST00000569035.1_Silent_p.R373R			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	373					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GCAGACCCCGGAAGGTCAAGG	0.582000								Base excision repair (BER), DNA glycosylases					8	12					0	0	0.008291	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420964	105420964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:105420964G>A	ENST00000333244.5	-	7	943	c.824C>T	c.(823-825)cCc>cTc	p.P275L		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	275						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGACCTCTGGGGTCCCGGCCC	0.602000													9	10					0	0	0.006214	0	0
CDON	50937	broad.mit.edu	37	11	125867234	125867234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:125867234G>A	ENST00000392693.3	-	12	2357	c.2230C>T	c.(2230-2232)Cgg>Tgg	p.R744W	CDON_ENST00000263577.7_Missense_Mutation_p.R744W|CDON_ENST00000531738.1_Missense_Mutation_p.R121W	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	744	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCGTTTGCCCGAGGAATCCAA	0.493000													6	8					0	0	0.001168	0	0
AAED1	195827	broad.mit.edu	37	9	99413700	99413700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:99413700C>T	ENST00000375234.3	-	4	392	c.393G>A	c.(391-393)atG>atA	p.M131I	AAED1_ENST00000464512.1_5'UTR	NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	131							antioxidant activity|oxidoreductase activity										CACCTCTTTTCATTCCCAATC	0.358000													9	31					0	0	0.008291	0	0
TRPM2	7226	broad.mit.edu	37	21	45799070	45799070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:45799070G>A	ENST00000397928.1	+	8	1650	c.1205G>A	c.(1204-1206)tGg>tAg	p.W402*	TRPM2_ENST00000397932.2_Nonsense_Mutation_p.W402*|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.W402*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.W402*	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	402						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ATTGTCGAGTGGACCAAAAAG	0.562000													37	33					0	0	0.006999	0	0
MYOM3	127294	broad.mit.edu	37	1	24434502	24434502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:24434502C>T	ENST00000330966.7	-	3	388	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	MYOM3_ENST00000374434.3_Missense_Mutation_p.A75T|MYOM3_ENST00000329601.7_Missense_Mutation_p.A75T|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	75										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCGGAGGAGGCCGTCAGAGCC	0.642000													32	17					0	0	0.007835	0	0
PLSCR1	5359	broad.mit.edu	37	3	146233883	146233883	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:146233883G>A	ENST00000342435.4	-	9	1316	c.906C>T	c.(904-906)ttC>ttT	p.F302F	PLSCR1_ENST00000487389.1_Silent_p.F295F|PLSCR1_ENST00000448787.2_Silent_p.F221F|PLSCR1_ENST00000448205.1_Silent_p.F14F	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	302					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						CAAAAAACATGAAGTCCTAGA	0.353000													19	14					0	0	0.010504	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506155	44506155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:44506155C>T	ENST00000255152.2	+	2	1167	c.958C>T	c.(958-960)Cgt>Tgt	p.R320C	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.R314C	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	320							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GAAGTTGCATCGTAGTTCAGC	0.502000													38	38					0	0	0.004289	0	0
CT47B1	643311	broad.mit.edu	37	X	120008779	120008779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:120008779G>A	ENST00000371311.3	-	1	1000	c.746C>T	c.(745-747)cCg>cTg	p.P249L		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	249										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTCTGAGGTCGGTTCCTCTGC	0.692000													64	1					0	0	0.014410	0	0
DCHS2	54798	broad.mit.edu	37	4	155225956	155225956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:155225956C>T	ENST00000357232.3	-	17	4104	c.4105G>A	c.(4105-4107)Gat>Aat	p.D1369N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1369	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGTGCGTGATCGTTTTCATCT	0.448000													20	10					0	0	0.012319	0	0
LRP1B	53353	broad.mit.edu	37	2	141660713	141660713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:141660713C>T	ENST00000389484.3	-	23	4513	c.3542G>A	c.(3541-3543)gGa>gAa	p.G1181E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1181					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTACAGCCTCCATTGTTCAG	0.388000										TSP Lung(27;0.18)			4	8					0	0	0.000602	0	0
C8A	731	broad.mit.edu	37	1	57320593	57320593	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:57320593T>A	ENST00000361249.3	+	1	115	c.19T>A	c.(19-21)Ttc>Atc	p.F7I		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	7					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGTTGTTTTCTTCATCTTGTC	0.428000													4	15					0	0	0.000602	0	0
TMCC3	57458	broad.mit.edu	37	12	94975784	94975784	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:94975784G>A	ENST00000261226.4	-	2	740	c.609C>T	c.(607-609)tcC>tcT	p.S203S	TMCC3_ENST00000551457.1_Silent_p.S172S	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	203						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CAAACTCTCTGGACTTATTGA	0.512000													19	53					0	0	0.010504	0	0
SAMD11	148398	broad.mit.edu	37	1	879086	879086	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:879086G>A	ENST00000342066.3	+	13	1781	c.1698G>A	c.(1696-1698)agG>agA	p.R566R		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	566	SAM.					nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGGTCTTCAGGGAGCAGGGGA	0.672000													5	13					0	0	0.000602	0	0
MYOCD	93649	broad.mit.edu	37	17	12666655	12666655	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:12666655G>A	ENST00000425538.1	+	14	2855	c.2655G>A	c.(2653-2655)ggG>ggA	p.G885G	MYOCD_ENST00000343344.4_Silent_p.G837G|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	837					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACTTTGATGGGATAATGGATG	0.473000													25	16					0	0	0.004656	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95488793	95488793	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:95488793C>T	ENST00000432432.2	-	0	1220					NR_040113.1																						TCTTGCTCTTCCTCTGAAGCC	0.313000													17	43					0	0	0.014323	0	0
OR4D11	219986	broad.mit.edu	37	11	59271453	59271453	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:59271453C>T	ENST00000313253.1	+	1	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						ATGTGACCATCATGAGTAGAG	0.537000													46	68					0	0	0.011902	0	0
C12orf54	121273	broad.mit.edu	37	12	48888608	48888608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:48888608G>A	ENST00000314014.2	+	8	401	c.270G>A	c.(268-270)atG>atA	p.M90I	C12orf54_ENST00000548364.1_Missense_Mutation_p.M90I|RP11-722P11.4_ENST00000551847.1_RNA	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	90										endometrium(1)|large_intestine(4)	5						ATTCCTTGATGACCCCAAAGT	0.483000													43	25					0	0	0.014410	0	0
ALPK1	80216	broad.mit.edu	37	4	113359765	113359765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:113359765C>T	ENST00000458497.1	+	13	3593	c.3314C>T	c.(3313-3315)cCc>cTc	p.P1105L	ALPK1_ENST00000504176.2_Missense_Mutation_p.P1027L|ALPK1_ENST00000177648.9_Missense_Mutation_p.P1105L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1105	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAAAACATTCCCACCCAGATA	0.418000													37	23					0	0	0.010771	0	0
OR6K2	81448	broad.mit.edu	37	1	158669720	158669720	+	Silent	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:158669720C>G	ENST00000359610.2	-	1	766	c.723G>C	c.(721-723)acG>acC	p.T241T		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAGAGACACACGTGGAAAATG	0.463000													20	7					0	0	0.010504	0	0
SORBS2	8470	broad.mit.edu	37	4	186545351	186545351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:186545351G>A	ENST00000431808.1	-	14	1783	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S507F|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S311F|SORBS2_ENST00000284776.7_Missense_Mutation_p.S407F			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	407						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ACATAACAGGGAGCCCATGCT	0.577000													11	63					0	0	0.010729	0	0
ACAN	176	broad.mit.edu	37	15	89400227	89400227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:89400227C>T	ENST00000439576.2	+	12	4785	c.4411C>T	c.(4411-4413)Cct>Tct	p.P1471S	ACAN_ENST00000559004.1_Missense_Mutation_p.P1471S|ACAN_ENST00000352105.7_Missense_Mutation_p.P1471S|ACAN_ENST00000561243.1_Missense_Mutation_p.P1471S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1471					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGTGGACTTCCTTCTGGAGG	0.512000													81	3					0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	141660714	141660714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:141660714C>T	ENST00000389484.3	-	23	4512	c.3541G>A	c.(3541-3543)Gga>Aga	p.G1181R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1181					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G1181R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTACAGCCTCCATTGTTCAGC	0.388000										TSP Lung(27;0.18)			4	8					0	0	0.000602	0	0
PHLDB2	90102	broad.mit.edu	37	3	111688687	111688687	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:111688687A>T	ENST00000431670.2	+	16	3877	c.3466A>T	c.(3466-3468)Aaa>Taa	p.K1156*	PHLDB2_ENST00000393923.3_Nonsense_Mutation_p.K1140*|PHLDB2_ENST00000412622.1_Nonsense_Mutation_p.K1113*|PHLDB2_ENST00000393925.3_Nonsense_Mutation_p.K1156*|PHLDB2_ENST00000481953.1_Nonsense_Mutation_p.K1113*|PHLDB2_ENST00000495180.1_Nonsense_Mutation_p.K647*	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1156	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATGGGTGGGAAAATTAAAAC	0.413000													19	14					0	0	0.010504	0	0
CFB	629	broad.mit.edu	37	6	31911056	31911056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:31911056C>T	ENST00000456570.1	+	8	1011	c.956C>T	c.(955-957)gCc>gTc	p.A319V	C2_ENST00000299367.5_Missense_Mutation_p.A472V|C2_ENST00000452323.2_Missense_Mutation_p.A258V|C2_ENST00000442278.2_Missense_Mutation_p.A340V|CFB_ENST00000477310.1_Missense_Mutation_p.A243V|C2_ENST00000469372.1_Missense_Mutation_p.A226V|CFB_ENST00000556679.1_Missense_Mutation_p.A319V			P00751	CFAB_HUMAN	complement factor B	487	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCAGCAAACGCCTCTGACCAG	0.577000													42	87					0	0	0.014410	0	0
ZNF700	90592	broad.mit.edu	37	19	12059396	12059396	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:12059396G>C	ENST00000482090.1	+	3	921	c.503G>C	c.(502-504)aGg>aCg	p.R168T	ZNF700_ENST00000254321.5_Missense_Mutation_p.R186T|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ACACAAGAAAGGGATCACACT	0.403000													20	27					0	0	0.008871	0	0
PINK1	65018	broad.mit.edu	37	1	20964586	20964586	+	Silent	SNP	C	C	T	rs139649940	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:20964586C>T	ENST00000321556.4	+	2	733	c.639C>T	c.(637-639)gcC>gcT	p.A213A		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	213	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGCCCCTGCCTTCCCCTTGG	0.572000													39	15					0	0	0.014410	0	0
P2RY8	286530	broad.mit.edu	37	X	1584801	1584801	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:1584801G>A	ENST00000381297.4	-	2	861	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	217						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				ACAGCTTGAGGATGGTGGCCG	0.652000			T	CRLF2	"""B-ALL, Downs associated ALL"""								12	19					0	0	0.013537	0	0
KCNT2	343450	broad.mit.edu	37	1	196398830	196398830	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:196398830G>A	ENST00000367433.5	-	9	797	c.696C>T	c.(694-696)tcC>tcT	p.S232S	KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Silent_p.S232S|KCNT2_ENST00000367431.4_Silent_p.S232S|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	232						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGAAATAAAGGGAGTCAAAGA	0.393000													4	1					0	0	0.009096	0	0
SERINC5	256987	broad.mit.edu	37	5	79441949	79441949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:79441949G>A	ENST00000507668.2	-	11	1352	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	SERINC5_ENST00000509193.1_Missense_Mutation_p.S399F|SERINC5_ENST00000512721.1_Missense_Mutation_p.S401F|SERINC5_ENST00000512972.2_Missense_Mutation_p.S401F	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	401					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CACATACAGGGAAGCTAGGAA	0.473000													46	48					0	0	0.010771	0	0
VWF	7450	broad.mit.edu	37	12	6128675	6128675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:6128675C>T	ENST00000261405.5	-	28	4163	c.3909G>A	c.(3907-3909)atG>atA	p.M1303I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1303	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCGCTCCATCATGTCCACCA	0.622000													18	51					0	0	0.010504	0	0
SPATA16	83893	broad.mit.edu	37	3	172674602	172674602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:172674602C>T	ENST00000351008.3	-	6	1129	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	316					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GTGATGGCTTCCTCAATCATG	0.328000													5	15					0	0	0.001984	0	0
POLK	51426	broad.mit.edu	37	5	74865175	74865175	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:74865175T>C	ENST00000241436.4	+	4	438	c.266T>C	c.(265-267)tTt>tCt	p.F89S	POLK_ENST00000380481.3_5'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.F89S|POLK_ENST00000504026.1_Missense_Mutation_p.F89S|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Missense_Mutation_p.F89S|POLK_ENST00000515295.1_Missense_Mutation_p.F89S	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	89					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTTGACAGATTTGCAATGGAA	0.313000								DNA polymerases (catalytic subunits)					8	10					0	0	0.006214	0	0
CNTN5	53942	broad.mit.edu	37	11	100141826	100141826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:100141826C>T	ENST00000524871.1	+	18	2457	c.2167C>T	c.(2167-2169)Cca>Tca	p.P723S	CNTN5_ENST00000528682.1_Missense_Mutation_p.P723S|CNTN5_ENST00000418526.2_Missense_Mutation_p.P649S|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.P723S|CNTN5_ENST00000527185.1_Missense_Mutation_p.P723S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	723	Fibronectin type-III 1.				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)		TTCTATAGTCCCAGAAATCAT	0.423000													20	24					0	0	0.005443	0	0
FAM193B	54540	broad.mit.edu	37	5	176952110	176952110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:176952110C>A	ENST00000329540.5	-	9	3079	c.250G>T	c.(250-252)Gag>Tag	p.E84*	FAM193B_ENST00000514747.1_Nonsense_Mutation_p.E458*|FAM193B_ENST00000443375.2_Nonsense_Mutation_p.E425*			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	134										kidney(1)|large_intestine(3)	4						TCGGGCCACTCCAAGAGCCTC	0.577000													22	29					2.98393e-07	3.95905e-07	0.002780	1	0
RASSF3	283349	broad.mit.edu	37	12	65088621	65088621	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:65088621C>T	ENST00000542104.1	+	5	766	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	RASSF3_ENST00000336061.2_Silent_p.L216L	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	216	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		GCTGCAGAACCTGAAGAGGCG	0.542000													8	33					0	0	0.008291	0	0
SASS6	163786	broad.mit.edu	37	1	100568561	100568561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:100568561G>A	ENST00000287482.5	-	14	1764	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	SASS6_ENST00000535161.1_Missense_Mutation_p.P375S|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	542					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ATCGAATGAGGGAAGGTATTC	0.388000													45	19					0	0	0.014410	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435841	7435841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:7435841C>T	ENST00000319098.4	-	1	859	c.766G>A	c.(766-768)Gag>Aag	p.E256K	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	256	Saposin B-type 2.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GCCCCTAGCTCCTCACAGAAT	0.587000													9	21					0	0	0.013537	0	0
MAST4	375449	broad.mit.edu	37	5	66410038	66410038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:66410038C>T	ENST00000404260.3	+	12	1899	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S	MAST4_ENST00000403625.2_Missense_Mutation_p.P528S|MAST4_ENST00000405643.1_Missense_Mutation_p.P349S|MAST4_ENST00000403666.1_Missense_Mutation_p.P339S|MAST4_ENST00000490016.2_Missense_Mutation_p.P339S|MAST4_ENST00000261569.7_Missense_Mutation_p.P334S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	531						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAATAAGGATCCCTTGGAAGG	0.453000													6	13					0	0	0.001168	0	0
COL13A1	1305	broad.mit.edu	37	10	71582173	71582173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:71582173C>T	ENST00000356340.3	+	2	879	c.343C>T	c.(343-345)Cca>Tca	p.P115S	COL13A1_ENST00000520267.1_Missense_Mutation_p.P115S|COL13A1_ENST00000517713.1_Missense_Mutation_p.P115S|COL13A1_ENST00000520133.1_Missense_Mutation_p.P115S|COL13A1_ENST00000398964.3_Missense_Mutation_p.P115S|COL13A1_ENST00000398972.3_Missense_Mutation_p.P115S|COL13A1_ENST00000357811.3_Missense_Mutation_p.P115S|COL13A1_ENST00000398973.3_Missense_Mutation_p.P115S|COL13A1_ENST00000522165.1_Missense_Mutation_p.P115S|COL13A1_ENST00000398966.3_Missense_Mutation_p.P115S|COL13A1_ENST00000398968.3_Missense_Mutation_p.P115S|COL13A1_ENST00000398974.3_Missense_Mutation_p.P115S|COL13A1_ENST00000398971.3_Missense_Mutation_p.P115S|COL13A1_ENST00000354547.3_Missense_Mutation_p.P115S|COL13A1_ENST00000398969.3_Missense_Mutation_p.P115S|COL13A1_ENST00000398978.3_Missense_Mutation_p.P115S			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	115	Nonhelical region 1 (NC1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAAGACATCTCCAGGATGTAA	0.562000													4	6					0	0	0.000602	0	0
GAD2	2572	broad.mit.edu	37	10	26513567	26513567	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:26513567G>A	ENST00000376261.3	+	6	1214	c.711G>A	c.(709-711)ggG>ggA	p.G237G	GAD2_ENST00000376248.1_Silent_p.G123G|GAD2_ENST00000259271.3_Silent_p.G237G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	237					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTGGCGATGGGATATTTTCTC	0.388000													19	24					0	0	0.008871	0	0
ZNF778	197320	broad.mit.edu	37	16	89294534	89294534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:89294534G>A	ENST00000433976.2	+	6	2086	c.1754G>A	c.(1753-1755)gGa>gAa	p.G585E	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.G543E	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACTCACACTGGAGAGAAACCT	0.433000													43	2					0	0	0.010771	0	0
BIRC6	57448	broad.mit.edu	37	2	32773047	32773047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:32773047G>A	ENST00000421745.2	+	64	13075	c.12941G>A	c.(12940-12942)aGg>aAg	p.R4314K		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4314					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)					ACTAAGCAAAGGCTGGAAGAG	0.378000													21	10					0	0	0.003330	0	0
SIK1	150094	broad.mit.edu	37	21	44840298	44840298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:44840298G>A	ENST00000270162.6	-	8	920	c.788C>T	c.(787-789)cCc>cTc	p.P263L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	263	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GCGCCTGGCGGGGTCCACCAC	0.726000													16	17					0	0	0.008871	0	0
ALDH3B2	222	broad.mit.edu	37	11	67430836	67430836	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:67430836G>A	ENST00000349015.3	-	10	1446	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	ALDH3B2_ENST00000530069.1_Silent_p.F336F	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	336					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TGTCGAAGGTGAACTTGCCGT	0.627000													17	28					0	0	0.002780	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115526199	115526199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:115526199G>A	ENST00000361048.1	+	3	385	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	PLEKHS1_ENST00000369312.4_5'UTR|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.E14K	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		TTATGAAAATGAAGTCTGCAA	0.358000													21	34					0	0	0.002780	0	0
MYO3A	53904	broad.mit.edu	37	10	26243860	26243860	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:26243860C>A	ENST00000265944.5	+	4	392	c.226C>A	c.(226-228)Cct>Act	p.P76T	MYO3A_ENST00000376301.1_Missense_Mutation_p.P76T|MYO3A_ENST00000376302.1_Missense_Mutation_p.P76T|MYO3A_ENST00000543632.1_Missense_Mutation_p.P76T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	76	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTCTGACCACCCTAATGTGGT	0.358000													18	21					1.33834e-09	1.78281e-09	0.007413	1	0
WISP1	8840	broad.mit.edu	37	8	134237763	134237763	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:134237763T>C	ENST00000250160.6	+	4	847	c.741T>C	c.(739-741)ccT>ccC	p.P247P	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Silent_p.P160P|WISP1_ENST00000377863.2_Silent_p.P75P|WISP1_ENST00000517423.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	247	TSP type-1.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGTGCTGGCCTGAGCAAGAGA	0.582000													31	20					0	0	0.003271	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099722	142099722	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:142099722G>A	ENST00000390359.3	-	0	118																											TTTGTACCTAGGGGACTGGGA	0.463000													18	29					0	0	0.012319	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664061	5664061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:5664061C>T	ENST00000354852.5	+	13	2124	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.R297W|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_Missense_Mutation_p.R297W|TRIM34_ENST00000495668.1_3'UTR|TRIM34_ENST00000429814.2_Missense_Mutation_p.R297W	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		651						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GACAGCTGTCCGGTGCTACTG	0.358000													5	19					0	0	0.001984	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248958	140248958	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140248958C>T	ENST00000398640.2	+	1	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.587000													57	199					0	0	0.014410	0	0
CDK12	51755	broad.mit.edu	37	17	37672045	37672045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:37672045C>T	ENST00000447079.4	+	9	2863	c.2830C>T	c.(2830-2832)Cag>Tag	p.Q944*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q944*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	944	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGAACTGGCTCAGCTAGAACT	0.408000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			25	22					0	0	0.007291	0	0
C1orf173	127254	broad.mit.edu	37	1	75086491	75086491	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:75086491A>C	ENST00000326665.5	-	8	1145	c.927T>G	c.(925-927)gaT>gaG	p.D309E	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.D112E	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	309										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTTAATTTCATCCCGGAAGT	0.353000													40	10					0	0	0.011902	0	0
ACTL9	284382	broad.mit.edu	37	19	8808176	8808176	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:8808176C>T	ENST00000324436.3	-	1	996	c.876G>A	c.(874-876)aaG>aaA	p.K292K		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	292						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGAACAGCTCCTTGCCCAGGG	0.662000													26	24					0	0	0.005443	0	0
SH2D4A	63898	broad.mit.edu	37	8	19221715	19221715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:19221715C>T	ENST00000265807.3	+	7	1250	c.839C>T	c.(838-840)cCg>cTg	p.P280L	SH2D4A_ENST00000519207.1_Missense_Mutation_p.P280L|SH2D4A_ENST00000518040.1_Missense_Mutation_p.P235L	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	280						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TTGCGTGTTCCGCAGAAACCA	0.537000													5	4					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9058194	9058194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9058194G>A	ENST00000397910.4	-	3	29455	c.29252C>T	c.(29251-29253)cCc>cTc	p.P9751L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9753	Ser-rich.|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						AGGAGAGGAGGGGCTACTGTC	0.483000													11	6					0	0	0.013537	0	0
ZNF133	7692	broad.mit.edu	37	20	18295991	18295991	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:18295991T>C	ENST00000377671.3	+	7	1052	c.493T>C	c.(493-495)Ttc>Ctc	p.F165L	ZNF133_ENST00000402618.2_Missense_Mutation_p.F103L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.F169L|ZNF133_ENST00000401790.1_Missense_Mutation_p.F166L|ZNF133_ENST00000316358.4_Missense_Mutation_p.F166L|ZNF133_ENST00000538547.1_Missense_Mutation_p.F71L|ZNF133_ENST00000535822.1_Missense_Mutation_p.F71L	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	166						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TCTGGGAGCGTTCTCCAGGCC	0.587000													46	49					0	0	0.014410	0	0
TENM2	57451	broad.mit.edu	37	5	167653107	167653107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:167653107G>A	ENST00000519204.1	+	23	4878	c.4760G>A	c.(4759-4761)gGc>gAc	p.G1587D	TENM2_ENST00000545108.1_Missense_Mutation_p.G1707D|TENM2_ENST00000403607.2_Missense_Mutation_p.G1532D|TENM2_ENST00000518659.1_Missense_Mutation_p.G1708D|TENM2_ENST00000520394.1_Missense_Mutation_p.G1469D					teneurin transmembrane protein 2																		GACCACGAAGGCCGCCTGACC	0.537000													10	8					0	0	0.010729	0	0
KIF14	9928	broad.mit.edu	37	1	200587238	200587238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:200587238C>T	ENST00000367350.4	-	2	1052	c.614G>A	c.(613-615)aGa>aAa	p.R205K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	205	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCATTTGCTCTACTGGGGGC	0.393000													70	19					0	0	0.014410	0	0
TFF2	7032	broad.mit.edu	37	21	43767736	43767736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:43767736C>T	ENST00000291526.4	-	3	405	c.235G>A	c.(235-237)Gat>Aat	p.D79N	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	79	P-type 2.				digestion	extracellular region				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						ACGCACTGATCCGACTCTGCC	0.602000													15	7					0	0	0.004990	0	0
NDUFB5	4711	broad.mit.edu	37	3	179341721	179341721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:179341721G>A	ENST00000493866.1	+	4	332	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	NDUFB5_ENST00000259037.3_Missense_Mutation_p.E155K|NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000472629.1_Missense_Mutation_p.E143K	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	155					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	AAAGGAGCTGGAAGTGCGAAA	0.393000													32	31					0	0	0.004878	0	0
FAT4	79633	broad.mit.edu	37	4	126239487	126239487	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:126239487T>C	ENST00000394329.3	+	1	1934	c.1921T>C	c.(1921-1923)Ttg>Ctg	p.L641L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	641	Cadherin 6.				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						GTCTGGGAGGTTGAGTACTAT	0.562000													27	20					0	0	0.004656	0	0
ANO4	121601	broad.mit.edu	37	12	101381408	101381408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:101381408G>A	ENST00000392979.3	+	7	950	c.589G>A	c.(589-591)Gac>Aac	p.D197N	ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.D232N	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	232						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGAGGAGAATGACTGCTACAC	0.498000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	37					0	0	0.013114	0	0
PYGM	5837	broad.mit.edu	37	11	64525789	64525789	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:64525789G>A	ENST00000164139.3	-	4	855	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	153					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TAGGCGGCCAGGCCCAGTGTT	0.607000													52	70					0	0	0.014410	0	0
GPR65	8477	broad.mit.edu	37	14	88477854	88477854	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:88477854G>A	ENST00000267549.3	+	2	1221	c.663G>A	c.(661-663)aaG>aaA	p.K221K	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	221					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACAAGGAAAAGAAGAGAATCA	0.428000													9	4					0	0	0.006214	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39279796	39279796	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:39279796G>A	ENST00000394014.1	-	1	623	c.579C>T	c.(577-579)ccC>ccT	p.P193P		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	193						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CACAGCACAAGGGGCGGGGGC	0.577000													9	6					0	0	0.013537	0	0
PLCL2	23228	broad.mit.edu	37	3	17052916	17052916	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:17052916G>T	ENST00000418129.2	+	2	2165	c.1700G>T	c.(1699-1701)tGg>tTg	p.W567L	PLCL2_ENST00000432376.1_Missense_Mutation_p.W567L|PLCL2_ENST00000396755.2_Missense_Mutation_p.W567L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	693	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAAGATTTTTGGAAATGTGGT	0.408000													11	33					5.50884e-06	7.28724e-06	0.013537	1	0
DSCAML1	57453	broad.mit.edu	37	11	117392002	117392002	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:117392002C>T	ENST00000321322.6	-	6	1237	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	DSCAML1_ENST00000527706.1_Silent_p.T142T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	352	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCACCAGCTCCGTGTTGCGAT	0.622000													31	47					0	0	0.009535	0	0
DUS3L	56931	broad.mit.edu	37	19	5789614	5789614	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:5789614G>A	ENST00000309061.7	-	3	600	c.504C>T	c.(502-504)ttC>ttT	p.F168F	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	168					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GGCACCGGCCGAAGGTCTCGA	0.706000													5	7					0	0	0.000602	0	0
ITGB6	3694	broad.mit.edu	37	2	161025819	161025819	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:161025819C>T	ENST00000283249.2	-	7	1159		c.e7-1		ITGB6_ENST00000409872.1_Splice_Site|ITGB6_ENST00000485635.1_Splice_Site|ITGB6_ENST00000428609.2_Splice_Site|ITGB6_ENST00000409967.2_Splice_Site			P18564	ITB6_HUMAN	integrin, beta 6						cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTGGATATTCCTAAAATTAAC	0.274000													20	38					0	0	0.008871	0	0
RAG2	5897	broad.mit.edu	37	11	36615431	36615431	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:36615431C>T	ENST00000311485.3	-	2	449	c.288G>A	c.(286-288)ggG>ggA	p.G96G		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	96					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTGGTGTTTTCCCTCCATGGA	0.428000									Familial Hemophagocytic Lymphohistiocytosis				33	24					0	0	0.012213	0	0
HTR2B	3357	broad.mit.edu	37	2	231973551	231973551	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:231973551T>G	ENST00000258400.3	-	4	1638	c.1126A>C	c.(1126-1128)Aat>Cat	p.N376H	PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	376					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	ACCAAAGGATTCACTCCTGAG	0.403000													20	42					0	0	0.014323	0	0
FUBP3	8939	broad.mit.edu	37	9	133498141	133498141	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:133498141G>T	ENST00000319725.9	+	10	893	c.818G>T	c.(817-819)gGg>gTg	p.G273V		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	273	KH 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GGAAGAAACGGGGAAATGATC	0.373000													15	52					6.49762e-13	8.68455e-13	0.006122	1	0
LAMA2	3908	broad.mit.edu	37	6	129813171	129813171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:129813171G>A	ENST00000421865.2	+	57	8073	c.8024G>A	c.(8023-8025)aGa>aAa	p.R2675K	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2675	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCCCACTCAGAAATATTCCT	0.368000													21	22					0	0	0.014323	0	0
C10orf2	56652	broad.mit.edu	37	10	102748846	102748846	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:102748846C>T	ENST00000370228.1	+	1	1064	c.879C>T	c.(877-879)gcC>gcT	p.A293A	C10orf2_ENST00000311916.2_Silent_p.A293A|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	293					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TACCCCCTGCCTTACTCCCTT	0.572000													87	115					0	0	0.014410	0	0
KDM4B	23030	broad.mit.edu	37	19	5077384	5077384	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:5077384T>A	ENST00000159111.4	+	8	901	c.683T>A	c.(682-684)tTc>tAc	p.F228Y	KDM4B_ENST00000536461.1_Missense_Mutation_p.F228Y|KDM4B_ENST00000381759.4_Missense_Mutation_p.F228Y|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	228	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTAGGCTTCTTCCCCGGGAGC	0.647000													50	88					0	0	0.014410	0	0
HEPN1	641654	broad.mit.edu	37	11	124789674	124789674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124789674C>T	ENST00000408930.5	+	1	529	c.28C>T	c.(28-30)Cca>Tca	p.P10S	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	10						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		TGGAATTGCTCCATGGGTTGA	0.537000													12	31					0	0	0.003163	0	0
PPHLN1	51535	broad.mit.edu	37	12	42836513	42836513	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:42836513C>T	ENST00000432191.2	+	10	1002	c.930C>T	c.(928-930)ccC>ccT	p.P310P	PPHLN1_ENST00000395568.2_Silent_p.P365P|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000256678.8_Silent_p.P245P|PPHLN1_ENST00000337898.6_Silent_p.P310P	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	365					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		acggaacccccgaaaacgaag	0.542000													30	64					0	0	0.008361	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473054	22473054	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:22473054G>A	ENST00000557788.2	-	0	216																											CTCCCACTATGATAGATTTCC	0.562000													23	109					0	0	0.014323	0	0
TBC1D2	55357	broad.mit.edu	37	9	100995812	100995812	+	Missense_Mutation	SNP	G	G	A	rs139045055		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:100995812G>A	ENST00000375066.5	-	4	758	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C	TBC1D2_ENST00000375064.1_Missense_Mutation_p.R223C|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R5C	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	223						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TTGTTGCCACGGATGTTGTGC	0.582000													47	29					0	0	0.014410	0	0
FKBP6	8468	broad.mit.edu	37	7	72744286	72744286	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:72744286C>T	ENST00000252037.4	+	4	468	c.399C>T	c.(397-399)gtC>gtT	p.V133V	FKBP6_ENST00000413573.2_Silent_p.V103V|FKBP6_ENST00000431982.2_Silent_p.V128V	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	133	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACACCACTGTCCTGTTTGAGA	0.527000													19	38					0	0	0.003330	0	0
CATSPERB	79820	broad.mit.edu	37	14	92159580	92159580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:92159580C>T	ENST00000256343.3	-	9	877	c.721G>A	c.(721-723)Gac>Aac	p.D241N		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	241					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				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)				AATGAAAGGTCTTCATATTCT	0.318000													33	45					0	0	0.006230	0	0
CCDC65	85478	broad.mit.edu	37	12	49298807	49298807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:49298807G>A	ENST00000266984.5	+	2	438	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	CCDC65_ENST00000320516.4_Missense_Mutation_p.E71K|ARF3_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	71										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TGTCCTTCGGGAAGTCAAGAC	0.443000													10	35					0	0	0.006214	0	0
SLC14A1	6563	broad.mit.edu	37	18	43310332	43310332	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:43310332T>C	ENST00000321925.4	+	3	279	c.47T>C	c.(46-48)gTt>gCt	p.V16A	SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000436407.3_Missense_Mutation_p.V72A|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000589700.1_Missense_Mutation_p.V16A|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000586142.1_Missense_Mutation_p.V16A|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000415427.3_Missense_Mutation_p.V72A	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	16						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCCACTATGGTTAGGGGTGAA	0.517000													15	17					0	0	0.003163	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118236243	118236243	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:118236243T>C	ENST00000369230.3	+	11	1398	c.1252T>C	c.(1252-1254)Ttc>Ctc	p.F418L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	418	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AAGTGTTCAGTTCATCTGGAA	0.338000													30	29					0	0	0.009535	0	0
SLC5A4	6527	broad.mit.edu	37	22	32631047	32631047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:32631047G>A	ENST00000266086.4	-	8	709	c.698C>T	c.(697-699)aCc>aTc	p.T233I	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	233					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTACTTCTCGGTAAAGCTCTC	0.453000													48	38					0	0	0.014410	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039616	36039616	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:36039616C>T	ENST00000282507.3	-	5	1139	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A2_ENST00000545528.1_Silent_p.V44V|UGT3A2_ENST00000513300.1_Silent_p.V312V	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	346						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGCAG	0.532000													26	37					0	0	0.009535	0	0
PACSIN2	11252	broad.mit.edu	37	22	43287041	43287041	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:43287041T>C	ENST00000263246.3	-	4	566	c.365A>G	c.(364-366)aAg>aGg	p.K122R	PACSIN2_ENST00000402229.1_Missense_Mutation_p.K122R|PACSIN2_ENST00000407585.1_Missense_Mutation_p.K122R|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000403744.3_Missense_Mutation_p.K122R|PACSIN2_ENST00000337959.4_Missense_Mutation_p.K122R	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	122					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CATCATCTGCTTGTGAAAGGC	0.552000													21	25					0	0	0.014323	0	0
SEMA4D	10507	broad.mit.edu	37	9	91994478	91994478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:91994478G>A	ENST00000450295.1	-	16	2506	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	SEMA4D_ENST00000356444.2_Missense_Mutation_p.S577F|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.S577F|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S577F			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	577	Ig-like C2-type.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGATTTTTGGGAGCATTTCAG	0.483000													24	104					0	0	0.004656	0	0
GGA2	23062	broad.mit.edu	37	16	23489759	23489759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:23489759C>T	ENST00000309859.4	-	13	1304	c.1222G>A	c.(1222-1224)Ggt>Agt	p.G408S	GGA2_ENST00000567468.1_Intron|GGA2_ENST00000569182.1_5'UTR	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	408	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TTCTGAACACCACCGCCTGGC	0.542000													24	43					0	0	0.007291	0	0
FREM2	341640	broad.mit.edu	37	13	39265085	39265085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:39265085G>A	ENST00000280481.7	+	1	3820	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1202					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)		TATGGTGATGGAAGGCATGAG	0.413000													71	75					0	0	0.014410	0	0
PARD3	56288	broad.mit.edu	37	10	34759113	34759113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:34759113G>A	ENST00000374789.3	-	4	807	c.482C>T	c.(481-483)tCc>tTc	p.S161F	PARD3_ENST00000374788.3_Missense_Mutation_p.S161F|PARD3_ENST00000545693.1_Missense_Mutation_p.S161F|PARD3_ENST00000545260.1_Missense_Mutation_p.S161F|PARD3_ENST00000374790.3_Missense_Mutation_p.S161F|PARD3_ENST00000350537.4_Missense_Mutation_p.S161F|PARD3_ENST00000346874.4_Missense_Mutation_p.S161F|PARD3_ENST00000374773.1_Missense_Mutation_p.S161F|PARD3_ENST00000374776.1_Missense_Mutation_p.S161F|PARD3_ENST00000340077.5_Missense_Mutation_p.S161F|PARD3_ENST00000374794.3_Missense_Mutation_p.S161F	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	161					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.S161F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTCTTCAGAGGAAAAATTACT	0.473000													49	51					0	0	0.014410	0	0
ARID4B	51742	broad.mit.edu	37	1	235384941	235384941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:235384941C>T	ENST00000264183.3	-	14	1599	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	ARID4B_ENST00000366603.2_Missense_Mutation_p.D368N|ARID4B_ENST00000349213.3_Missense_Mutation_p.D368N	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	368	ARID.|Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATTCCAAGATCTTGGTAGACT	0.289000													10	45					0	0	0.003163	0	0
DNAH3	55567	broad.mit.edu	37	16	21031051	21031051	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:21031051T>A	ENST00000261383.3	-	41	5916	c.5917A>T	c.(5917-5919)Aag>Tag	p.K1973*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1973					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAAATTTCTTTCTGCTGTCT	0.473000													14	24					0	0	0.001855	0	0
CD74	972	broad.mit.edu	37	5	149782794	149782794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:149782794C>T	ENST00000009530.7	-	7	708	c.707G>A	c.(706-708)gGc>gAc	p.G236D	CD74_ENST00000377795.3_Intron|CD74_ENST00000353334.6_Intron|CD74_ENST00000524315.1_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	236	Thyroglobulin type-1.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGATAGTTGCCGTTCTCGTC	0.597000			T	ROS1	NSCLC								42	79					0	0	0.013114	0	0
COL2A1	1280	broad.mit.edu	37	12	48369760	48369760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:48369760C>T	ENST00000380518.3	-	50	3747	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.E1126K	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1195	Triple-helical region.		Missing (in SEDC).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGCCGGTTTCGCCTGATCGT	0.607000													24	50					0	0	0.006320	0	0
BCL2L14	79370	broad.mit.edu	37	12	12247445	12247445	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:12247445G>A	ENST00000266434.4	+	5	874	c.678_splice	c.e5-1	p.D227_splice	BCL2L14_ENST00000586576.1_Intron|BCL2L14_ENST00000396367.1_Intron|BCL2L14_ENST00000396369.1_Intron|BCL2L14_ENST00000589718.1_Intron|BCL2L14_ENST00000308721.5_Intron	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	227					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GGTTCTGCAGGACACTGCCTT	0.428000													24	26					0	0	0.006320	0	0
SNX25	83891	broad.mit.edu	37	4	186180011	186180011	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:186180011A>T	ENST00000504273.1	+	3	326	c.32A>T	c.(31-33)tAc>tTc	p.Y11F	SNX25_ENST00000264694.8_Missense_Mutation_p.Y11F			Q9H3E2	SNX25_HUMAN	sorting nexin 25	11	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GTGTTCGACTACAGTTATAGA	0.403000													20	65					0	0	0.014323	0	0
IDH2	3418	broad.mit.edu	37	15	90631943	90631943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:90631943C>T	ENST00000330062.3	-	4	523	c.410G>A	c.(409-411)gGa>gAa	p.G137E	IDH2_ENST00000539790.1_Missense_Mutation_p.G7E|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.G85E	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	137	Substrate binding (By similarity).				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CCGGATAGTTCCATTGGGACT	0.522000			M		GBM								49	1					0	0	0.014410	0	0
NPY1R	4886	broad.mit.edu	37	4	164246485	164246485	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:164246485G>A	ENST00000296533.2	-	3	1656	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	NPY1R_ENST00000509586.1_Silent_p.I132I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	375					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CATTGTTGTTGATTTTTTTAA	0.373000													48	58					0	0	0.014410	0	0
TARS	6897	broad.mit.edu	37	5	33462103	33462103	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:33462103T>C	ENST00000265112.3	+	15	2033	c.1722T>C	c.(1720-1722)acT>acC	p.T574T	TARS_ENST00000414361.2_Silent_p.T453T|TARS_ENST00000541634.1_Silent_p.T470T|TARS_ENST00000455217.2_Silent_p.T607T|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Silent_p.T574T	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	574					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTAATCTTACTTATGTAAGGT	0.353000													13	13					0	0	0.003163	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51041676	51041676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:51041676G>A	ENST00000329492.3	+	3	313	c.196G>A	c.(196-198)Gag>Aag	p.E66K	MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.E66K|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.E66K|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.E39K|MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000399912.1_5'UTR	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	66					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGCGCTCGGAGCAGCCGCA	0.622000													4	8					0	0	0.009096	0	0
PJA1	64219	broad.mit.edu	37	X	68382407	68382407	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:68382407C>T	ENST00000361478.1	-	2	1052	c.675G>A	c.(673-675)agG>agA	p.R225R	PJA1_ENST00000374583.1_Silent_p.R225R|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Silent_p.R170R|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	225							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						AATTTTGCTCCCTTCTCTCCC	0.542000													20	1					0	0	0.012319	0	0
ACOT12	134526	broad.mit.edu	37	5	80628364	80628364	+	Silent	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:80628364A>T	ENST00000307624.3	-	13	1351	c.1323T>A	c.(1321-1323)ccT>ccA	p.P441P	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	441	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CATTCAGTATAGGACAGGTGA	0.408000													23	25					0	0	0.002780	0	0
DSC3	1825	broad.mit.edu	37	18	28598186	28598186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:28598186C>T	ENST00000434452.1	-	9	1268	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	DSC3_ENST00000360428.4_Missense_Mutation_p.E372K	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	372	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CGTAAGATTTCCACATTGAAT	0.274000													4	7					0	0	0.009096	0	0
BSPRY	54836	broad.mit.edu	37	9	116131975	116131975	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:116131975C>T	ENST00000374183.4	+	6	801	c.762C>T	c.(760-762)ttC>ttT	p.F254F	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	254	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CCCTGACCTTCAGCACCAAGA	0.562000													30	13					0	0	0.009535	0	0
GGT6	124975	broad.mit.edu	37	17	4461906	4461906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4461906C>T	ENST00000301395.3	-	3	849	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	GGT6_ENST00000573591.1_Missense_Mutation_p.E148K|GGT6_ENST00000381550.3_Missense_Mutation_p.E302K|GGT6_ENST00000574154.1_Missense_Mutation_p.E296K	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	296					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCTGCTGGTTCCAAAGTGGGC	0.657000													8	4					0	0	0.003080	0	0
U2AF2	11338	broad.mit.edu	37	19	56170676	56170676	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56170676C>T	ENST00000450554.2	+	2	1109	c.150C>T	c.(148-150)gaC>gaT	p.D50D	U2AF2_ENST00000308924.4_Silent_p.D50D	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	50	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCAACCGGGACCAGCGGAGCG	0.731000													5	5					0	0	0.003080	0	0
UTRN	7402	broad.mit.edu	37	6	144835845	144835845	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:144835845C>T	ENST00000367545.3	+	36	5133	c.5133C>T	c.(5131-5133)gcC>gcT	p.A1711A		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1711	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCGATCAAGCCCTTATTTTGA	0.408000													46	50					0	0	0.014410	0	0
GAPVD1	26130	broad.mit.edu	37	9	128069805	128069805	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:128069805C>T	ENST00000470056.1	+	5	1390	c.1230C>T	c.(1228-1230)acC>acT	p.T410T	GAPVD1_ENST00000312123.9_Silent_p.T410T|GAPVD1_ENST00000297933.6_Silent_p.T410T|GAPVD1_ENST00000495955.1_Silent_p.T410T|GAPVD1_ENST00000265956.4_Silent_p.T410T|GAPVD1_ENST00000394104.2_Silent_p.T410T|GAPVD1_ENST00000394084.1_Silent_p.T410T|GAPVD1_ENST00000394083.2_Silent_p.T410T|GAPVD1_ENST00000394105.2_Silent_p.T410T			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	410					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTATATAACCTACAGTCAGC	0.418000													25	12					0	0	0.005443	0	0
GRK1	6011	broad.mit.edu	37	13	114322262	114322262	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:114322262G>A	ENST00000335678.6	+	1	793	c.561G>A	c.(559-561)gaG>gaA	p.E187E		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	187	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CCATGGGGGAGGACTGGTTCC	0.632000													4	10					0	0	0.009096	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401111	11401111	+	Silent	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:11401111G>T	ENST00000002596.5	-	2	1693	c.519C>A	c.(517-519)tcC>tcA	p.S173S		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	173						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						ACTCCTCGATGGACGGGTAGG	0.587000													18	27					1.10513e-12	1.4766e-12	0.014323	1	0
NRXN1	9378	broad.mit.edu	37	2	51254830	51254830	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:51254830G>A	ENST00000404971.1	-	2	1921	c.582C>T	c.(580-582)gtC>gtT	p.V194V	NRXN1_ENST00000405581.1_Silent_p.V194V|NRXN1_ENST00000406859.3_Silent_p.V194V|NRXN1_ENST00000406316.2_Silent_p.V194V|NRXN1_ENST00000402717.3_Silent_p.V194V|NRXN1_ENST00000405472.3_Silent_p.V194V|NRXN1_ENST00000401669.2_Silent_p.V194V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	194	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCACGGGCAGGACCTGCGAGG	0.711000													4	6					0	0	0.001168	0	0
ESRP2	80004	broad.mit.edu	37	16	68267988	68267988	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:68267988T>C	ENST00000473183.2	-	3	888	c.350A>G	c.(349-351)gAt>gGt	p.D117G	ESRP2_ENST00000565858.1_Missense_Mutation_p.D117G			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	117					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CAAAGCCACATCCCCGTTCAC	0.602000													4	2					0	0	0.000602	0	0
BCAS4	55653	broad.mit.edu	37	20	49446839	49446839	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:49446839C>T	ENST00000358791.5	+	3	376	c.276C>T	c.(274-276)atC>atT	p.I92I	BCAS4_ENST00000371608.2_Silent_p.I92I|BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000262591.5_Silent_p.I92I	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	92						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						CTTCACAGATCCTGGAGGAAA	0.527000													14	24					0	0	0.002450	0	0
RBM26	64062	broad.mit.edu	37	13	79911419	79911419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:79911419G>A	ENST00000438737.2	-	19	2991	c.2551C>T	c.(2551-2553)Ctt>Ttt	p.L851F	RBM26_ENST00000438724.1_Missense_Mutation_p.L827F|RBM26_ENST00000267229.7_Missense_Mutation_p.L824F			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	851					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CCAGATGAAAGAATCCCTCGT	0.517000													24	37					0	0	0.007291	0	0
ZNF132	7691	broad.mit.edu	37	19	58945976	58945976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:58945976G>A	ENST00000254166.3	-	3	1235	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	279						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TTATTACCAAGGATTGATTTC	0.443000													37	25					0	0	0.005524	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117985853	117985853	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:117985853G>A	ENST00000534111.1	+	11	1269	c.1003_splice	c.e11-1	p.G335_splice	TMPRSS4_ENST00000522307.1_Splice_Site_p.G190_splice|TMPRSS4_ENST00000518413.2_Intron|TMPRSS4_ENST00000522824.1_Splice_Site_p.G332_splice|TMPRSS4_ENST00000523251.1_Splice_Site_p.G297_splice|TMPRSS4_ENST00000437212.3_Splice_Site_p.G337_splice	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	337	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		ACCCTCCCAGGGAAGATGTCT	0.552000													12	10					0	0	0.013537	0	0
TRANK1	9881	broad.mit.edu	37	3	36897155	36897155	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:36897155A>T	ENST00000301807.6	-	12	4173	c.2276T>A	c.(2275-2277)tTt>tAt	p.F759Y	TRANK1_ENST00000428977.2_Missense_Mutation_p.F759Y|TRANK1_ENST00000429976.2_Missense_Mutation_p.F1309Y	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1309					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						ACCCTTTAGAAAAGATTTTAT	0.428000													66	38					0	0	0.014410	0	0
CES1	1066	broad.mit.edu	37	16	55862744	55862744	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:55862744C>T	ENST00000422046.2	-	2	473	c.192G>A	c.(190-192)agG>agA	p.R64R	CES1_ENST00000361503.4_Silent_p.R64R|CES1_ENST00000360526.3_Silent_p.R65R			P23141	EST1_HUMAN	carboxylesterase 1	64				R -> G (in Ref. 18; CAA37147).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GTGGAGTAAACCTCAGGGGTC	0.542000													46	19					0	0	0.014410	0	0
YME1L1	10730	broad.mit.edu	37	10	27408325	27408325	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:27408325A>G	ENST00000326799.3	-	15	1784	c.1636T>C	c.(1636-1638)Ttg>Ctg	p.L546L	YME1L1_ENST00000375972.3_Silent_p.L456L|YME1L1_ENST00000376016.3_Silent_p.L489L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	546					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGATTCTCCAACTCTGCTCCG	0.393000													22	24					0	0	0.012319	0	0
C2orf16	84226	broad.mit.edu	37	2	27799787	27799787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:27799787G>A	ENST00000408964.2	+	1	399	c.348G>A	c.(346-348)atG>atA	p.M116I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	116										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCAAATCATGGAATCCTCTG	0.408000													9	7					0	0	0.010729	0	0
B4GALNT4	338707	broad.mit.edu	37	11	381764	381764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:381764G>A	ENST00000329962.6	+	20	3092	c.3092G>A	c.(3091-3093)aGg>aAg	p.R1031K		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	1031						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCGCAGCAGGAAGGGCTCT	0.687000													15	7					0	0	0.002450	0	0
MICAL3	57553	broad.mit.edu	37	22	18300713	18300713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:18300713C>T	ENST00000441493.2	-	26	5066	c.4714G>A	c.(4714-4716)Gag>Aag	p.E1572K		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1572						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGCGTCCCCTCCAGAGCAGGC	0.682000													17	23					0	0	0.012319	0	0
IRX1	79192	broad.mit.edu	37	5	3599723	3599723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:3599723G>A	ENST00000302006.3	+	2	713	c.661G>A	c.(661-663)Gag>Aag	p.E221K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	221						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGAGGACGACGAGGAGATCGA	0.627000													17	22					0	0	0.006122	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21883641	21883641	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:21883641G>A	ENST00000319481.3	-	14	1340	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	OSBPL1A_ENST00000357041.4_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	378					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TGAGAAAGTTGGAAATTTCCC	0.328000													56	27					0	0	0.014410	0	0
NEIL1	79661	broad.mit.edu	37	15	75647320	75647320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:75647320G>A	ENST00000564784.1	+	11	1747	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q	NEIL1_ENST00000355059.4_Missense_Mutation_p.R373Q|NEIL1_ENST00000569035.1_Missense_Mutation_p.R373Q			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	373					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	p.R373Q(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TGCAGACCCCGGAAGGTCAAG	0.577000								Base excision repair (BER), DNA glycosylases					9	12					0	0	0.010729	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072304	34072304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:34072304C>T	ENST00000254466.6	-	6	2239	c.2212G>A	c.(2212-2214)Gcc>Acc	p.A738T	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A722T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	738					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)		GGTGTGGGGGCCTCCGGGCTG	0.622000													40	72					0	0	0.011902	0	0
CEP128	145508	broad.mit.edu	37	14	81259448	81259448	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:81259448T>G	ENST00000555265.1	-	14	1591	c.1216A>C	c.(1216-1218)Aca>Cca	p.T406P	CEP128_ENST00000281129.3_Missense_Mutation_p.T406P			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	406						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AGTTCACGTGTTAAATTCTAC	0.398000													10	23					0	0	0.008291	0	0
OR1N2	138882	broad.mit.edu	37	9	125316093	125316093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:125316093G>A	ENST00000373688.2	+	1	703	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ACGAGCTGATGATCATCACCA	0.507000													23	75					0	0	0.002780	0	0
ELP2	55250	broad.mit.edu	37	18	33713200	33713200	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:33713200G>A	ENST00000358232.6	+	2	201		c.e2-1		ELP2_ENST00000351393.6_Splice_Site|ELP2_ENST00000423854.2_Splice_Site|ELP2_ENST00000542824.1_Splice_Site|ELP2_ENST00000442325.2_Splice_Site|ELP2_ENST00000350494.6_Splice_Site	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2						regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CTTCTCTAAAGAAAAGGGTTG	0.328000													15	13					0	0	0.002450	0	0
POTEA	340441	broad.mit.edu	37	8	43147879	43147879	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:43147879C>T	ENST00000522175.2	+	0	254							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGGATCTCATCGTCATGCTCA	0.612000													12	2					0	0	0.013537	0	0
ANPEP	290	broad.mit.edu	37	15	90335500	90335500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:90335500C>T	ENST00000300060.6	-	18	2732	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	807	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCCCACTCCTCCTCCCCGCCC	0.632000													22	74					0	0	0.003330	0	0
TULP4	56995	broad.mit.edu	37	6	158924560	158924560	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:158924560A>G	ENST00000367097.3	+	13	5222	c.3865A>G	c.(3865-3867)Aag>Gag	p.K1289E	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1289					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGTGGTGGAGAAGCCCCTTGT	0.617000													32	37					0	0	0.003271	0	0
PANK4	55229	broad.mit.edu	37	1	2452206	2452206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:2452206G>A	ENST00000378466.3	-	4	574	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	PANK4_ENST00000435556.3_Missense_Mutation_p.P149S	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	188					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGAAGATAGGGGAAAATGTGG	0.502000													53	23					0	0	0.014410	0	0
CAPN11	11131	broad.mit.edu	37	6	44137193	44137193	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:44137193A>G	ENST00000542245.1	+	3	302	c.264A>G	c.(262-264)gaA>gaG	p.E88E	CAPN11_ENST00000398776.1_Silent_p.E88E			Q9UMQ6	CAN11_HUMAN	calpain 11	88	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCCTGCTGAACCCAGCTCAC	0.577000													13	4					0	0	0.013537	0	0
CLVS2	134829	broad.mit.edu	37	6	123384874	123384874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:123384874G>T	ENST00000275162.4	+	6	2287	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	CLVS2_ENST00000368438.1_Nonsense_Mutation_p.E172*	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	318					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			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						AAATGAGGAAGAAAACATGCA	0.388000													10	17					1.61879e-10	2.15929e-10	0.013537	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18770620	18770620	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:18770620G>A	ENST00000380548.4	+	17	2577	c.2238G>A	c.(2236-2238)ggG>ggA	p.G746G		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	746						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGTGTGGCGGGGGTGTTCAGA	0.483000													11	3					0	0	0.001855	0	0
C4BPA	722	broad.mit.edu	37	1	207307782	207307782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:207307782G>A	ENST00000367070.3	+	9	1312	c.1118G>A	c.(1117-1119)gGt>gAt	p.G373D		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	373	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTAAATAATGGTGAAATCACT	0.383000													42	30					0	0	0.014410	0	0
PRKG2	5593	broad.mit.edu	37	4	82125881	82125881	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:82125881C>T	ENST00000395578.1	-	2	437	c.321G>A	c.(319-321)cgG>cgA	p.R107R	PRKG2_ENST00000418486.2_Silent_p.R107R|PRKG2_ENST00000264399.1_Silent_p.R107R			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	107					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CAGAGGTCTTCCGGTGGACCT	0.567000													23	60					0	0	0.014323	0	0
PCSK5	5125	broad.mit.edu	37	9	78711007	78711007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:78711007G>A	ENST00000545128.1	+	8	1634	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	PCSK5_ENST00000376767.3_Missense_Mutation_p.D366N|PCSK5_ENST00000376752.4_Missense_Mutation_p.D366N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	366	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAGTCCTACGATAAGAAAAT	0.428000													6	15					0	0	0.001984	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453303	21453303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:21453303C>T	ENST00000307378.6	-	9	1609	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E165K|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E165K|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E297K|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E295K	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	297					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CCATATTTTTCCTTCTTGACC	0.294000													4	11					0	0	0.009096	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733215	56733215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56733215G>A	ENST00000587340.1	-	7	1915	c.1220C>T	c.(1219-1221)aCt>aTt	p.T407I	ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.T407I|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.T406I|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.T290I|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.T261I			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	407					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCTCTCGCCAGTGTGGGTTCG	0.522000													8	10					0	0	0.004482	0	0
ADCY2	108	broad.mit.edu	37	5	7757592	7757592	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:7757592A>T	ENST00000338316.4	+	16	2076	c.1987A>T	c.(1987-1989)Atg>Ttg	p.M663L	ADCY2_ENST00000537121.1_Missense_Mutation_p.M483L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	663					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCCCCTGCTCATGTGGCTTTT	0.483000													64	79					0	0	0.014410	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47567936	47567936	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:47567936T>A	ENST00000371917.4	+	4	353	c.353T>A	c.(352-354)aTt>aAt	p.I118N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	118					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ATCGACAGAATTGTTGAAACC	0.463000													17	28					0	0	0.006122	0	0
PIGZ	80235	broad.mit.edu	37	3	196678714	196678714	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:196678714G>A	ENST00000412723.1	-	2	335	c.189C>T	c.(187-189)ttC>ttT	p.F63F	PIGZ_ENST00000443835.1_Silent_p.F63F	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	63					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		CAGGGGACTGGAAGAACTCAT	0.577000													8	6					0	0	0.010729	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159584022	159584022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:159584022G>A	ENST00000337808.6	+	3	1407	c.830G>A	c.(829-831)gGa>gAa	p.G277E	IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.G264E|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.G326E|SCHIP1_ENST00000445224.2_Missense_Mutation_p.G34E|SCHIP1_ENST00000482804.1_Missense_Mutation_p.G50E|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.G237E|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.G45E|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.G353E	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		277						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GATGGCCCAGGAATTTATACC	0.403000													13	37					0	0	0.002450	0	0
TG	7038	broad.mit.edu	37	8	134108473	134108473	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:134108473C>T	ENST00000220616.4	+	43	7468	c.7428C>T	c.(7426-7428)ttC>ttT	p.F2476F	SLA_ENST00000517648.1_Intron|TG_ENST00000519543.1_Silent_p.F609F|SLA_ENST00000395352.3_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000518565.1_Intron|SLA_ENST00000524345.1_Intron|TG_ENST00000377869.1_Silent_p.F2419F|TG_ENST00000542445.1_Silent_p.F846F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2476					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGGCCCTTTCCACTACTGGG	0.507000													32	75					0	0	0.004289	0	0
VLDLR	7436	broad.mit.edu	37	9	2643945	2643945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:2643945C>T	ENST00000382100.2	+	7	1408	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	VLDLR_ENST00000382099.2_Missense_Mutation_p.P351L	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	351	LDL-receptor class A 8.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AGTGATGAGCCCCTGAAAGAG	0.483000													6	29					0	0	0.001984	0	0
TANC1	85461	broad.mit.edu	37	2	160076229	160076229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:160076229G>A	ENST00000263635.6	+	22	3766	c.3529G>A	c.(3529-3531)Gag>Aag	p.E1177K	TANC1_ENST00000454300.1_Missense_Mutation_p.E1071K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1177						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCTAGACAAAGAGGGTCTGTC	0.458000													31	16					0	0	0.009535	0	0
NT5C1A	84618	broad.mit.edu	37	1	40129001	40129001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:40129001C>T	ENST00000235628.1	-	4	538	c.539G>A	c.(538-540)cGa>cAa	p.R180Q		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	180					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AATGGCTTCTCGCACTTTTTC	0.537000													45	19					0	0	0.014410	0	0
PCLO	27445	broad.mit.edu	37	7	82585431	82585431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:82585431C>T	ENST00000423517.2	-	5	5175	c.4838G>A	c.(4837-4839)cGa>cAa	p.R1613Q	PCLO_ENST00000333891.8_Missense_Mutation_p.R1613Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1544					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						GCTACTTTTTCGAGTCAGTCG	0.418000													73	95					0	0	0.014410	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531512	140531512	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140531512C>T	ENST00000231136.1	+	1	1674	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	PCDHB6_ENST00000543635.1_Silent_p.F422F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		558	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGTTGTACC	0.716000													38	52					0	0	0.007835	0	0
SLC8A2	6543	broad.mit.edu	37	19	47941114	47941114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:47941114C>T	ENST00000236877.6	-	7	2397	c.2002G>A	c.(2002-2004)Gat>Aat	p.D668N	SLC8A2_ENST00000542837.1_Missense_Mutation_p.D424N|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_Missense_Mutation_p.D131N	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	668					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACCTTAAAATCATATGACTCC	0.567000													49	45					0	0	0.014410	0	0
AKAP6	9472	broad.mit.edu	37	14	33069994	33069994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:33069994C>T	ENST00000280979.4	+	7	2896	c.2726C>T	c.(2725-2727)cCc>cTc	p.P909L	AKAP6_ENST00000557354.1_Missense_Mutation_p.P909L|AKAP6_ENST00000557272.1_Missense_Mutation_p.P909L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	909					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACTGGAAGCCCCAAGGTAAGT	0.468000													18	34					0	0	0.010504	0	0
LEPREL1	55214	broad.mit.edu	37	3	189713145	189713145	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:189713145C>T	ENST00000319332.5	-	2	764	c.567G>A	c.(565-567)gaG>gaA	p.E189E	LEPREL1_ENST00000427335.2_Silent_p.E8E	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	189					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCCTGTAATTCTCAATGTTCT	0.498000													9	16					0	0	0.006214	0	0
TRIM67	440730	broad.mit.edu	37	1	231339688	231339688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:231339688C>T	ENST00000444294.3	+	6	2462	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L	TRIM67_ENST00000366653.5_Missense_Mutation_p.P537L|TRIM67_ENST00000366652.2_Missense_Mutation_p.P537L|TRIM67_ENST00000449018.3_Missense_Mutation_p.P475L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	537	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGGAGGATGCCACCCTTCACC	0.632000													11	23					0	0	0.010729	0	0
ISM2	145501	broad.mit.edu	37	14	77951262	77951262	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:77951262C>T	ENST00000342219.4	-	2	198	c.141_splice	c.e2-1	p.V48_splice	ISM2_ENST00000429906.1_Intron|ISM2_ENST00000412904.1_Splice_Site_p.V48_splice|ISM2_ENST00000393684.3_5'UTR|ISM2_ENST00000493585.1_Splice_Site_p.V48_splice	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	48						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GAGGCTGAGACCTGAGGGAGA	0.617000													20	31					0	0	0.004656	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490270	150490270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:150490270G>A	ENST00000447204.2	-	5	878	c.506C>T	c.(505-507)cCt>cTt	p.P169L	TMEM176B_ENST00000492607.1_Missense_Mutation_p.P169L|TMEM176B_ENST00000326442.5_Missense_Mutation_p.P169L|TMEM176B_ENST00000434545.1_Missense_Mutation_p.P169L|TMEM176B_ENST00000450753.2_Missense_Mutation_p.P132L|TMEM176B_ENST00000429904.2_Missense_Mutation_p.P169L	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	169					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGAAGACAGGGTCTGAGCG	0.502000													65	4					0	0	0.014410	0	0
STXBP2	6813	broad.mit.edu	37	19	7712642	7712642	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:7712642C>T	ENST00000441779.2	+	19	1798	c.1761C>T	c.(1759-1761)ttC>ttT	p.F587F	STXBP2_ENST00000414284.2_Silent_p.F573F|STXBP2_ENST00000221283.5_Silent_p.F576F|STXBP2_ENST00000602355.1_Silent_p.F111F	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	576					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGACCCGCTTCCTGGATGACC	0.622000													37	52					0	0	0.013114	0	0
PRND	23627	broad.mit.edu	37	20	4705663	4705663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:4705663C>T	ENST00000305817.2	+	2	537	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	156					protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						CGCAGGACTTCGGGTCACCAT	0.597000													10	12					0	0	0.013537	0	0
THSD7B	80731	broad.mit.edu	37	2	137814036	137814036	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:137814036G>A	ENST00000409968.1	+	3	364	c.186G>A	c.(184-186)caG>caA	p.Q62Q	THSD7B_ENST00000413152.2_Silent_p.Q31Q|THSD7B_ENST00000272643.3_Silent_p.Q62Q					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGGAGTCCAGAGTCGGGCAG	0.498000													18	10					0	0	0.014323	0	0
GREM2	64388	broad.mit.edu	37	1	240656514	240656514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:240656514G>A	ENST00000318160.4	-	2	528	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	88	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GTGCGGCTCCGGCAGCCCTCC	0.647000													13	49					0	0	0.003163	0	0
NME9	347736	broad.mit.edu	37	3	138043745	138043745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:138043745C>T	ENST00000333911.3	-	2	88	c.61G>A	c.(61-63)Gag>Aag	p.E21K	NME9_ENST00000341790.5_Missense_Mutation_p.E21K|NME9_ENST00000536478.1_5'UTR|NME9_ENST00000383180.2_5'UTR|NME9_ENST00000317876.4_5'UTR|NME9_ENST00000484930.1_Missense_Mutation_p.E21K			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	21	Thioredoxin.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AGCATTTCCTCCCAAAGCTCT	0.378000													156	106					0	0	0.014410	0	0
SULT1A1	6817	broad.mit.edu	37	16	28619821	28619821	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:28619821G>A	ENST00000395609.1	-	5	1010	c.252C>T	c.(250-252)ttC>ttT	p.F84F	SULT1A1_ENST00000569554.1_Silent_p.F84F|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000314752.7_Silent_p.F84F|SULT1A1_ENST00000395607.1_Silent_p.F84F			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	84					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CTGGGGCTTTGAACTCAAGGA	0.582000													29	20					0	0	0.008361	0	0
ATP1A2	477	broad.mit.edu	37	1	160106410	160106410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:160106410G>A	ENST00000361216.3	+	19	2703	c.2614G>A	c.(2614-2616)Gag>Aag	p.E872K	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.E872K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	872					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GATCCTGGCAGAGAACGGTTT	0.577000													45	16					0	0	0.014410	0	0
NTRK3	4916	broad.mit.edu	37	15	88483956	88483956	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:88483956G>A	ENST00000394480.1	-	15	1935	c.1614C>T	c.(1612-1614)atC>atT	p.I538I	NTRK3_ENST00000360948.2_Silent_p.I538I|NTRK3_ENST00000558676.1_Silent_p.I530I|NTRK3_ENST00000355254.2_Silent_p.I538I|NTRK3_ENST00000557856.1_Silent_p.I530I|NTRK3_ENST00000542733.2_Silent_p.I440I|NTRK3_ENST00000357724.2_Silent_p.I530I	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	538	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTTCAGCACGATGTCTCTCC	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			63	93					0	0	0.014410	0	0
LRRC7	57554	broad.mit.edu	37	1	70503858	70503858	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:70503858T>C	ENST00000310961.5	+	22	2670	c.2252T>C	c.(2251-2253)gTt>gCt	p.V751A	LRRC7_ENST00000035383.5_Missense_Mutation_p.V746A|LRRC7_ENST00000415775.2_Missense_Mutation_p.V30A			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	746						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						CGGGAGGCTGTTCCCCCAGGC	0.498000													94	37					0	0	0.014410	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485324	97485324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:97485324G>A	ENST00000376705.2	+	2	1312	c.1288G>A	c.(1288-1290)Gac>Aac	p.D430N		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	430						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCACCAGAGGGACCGCCAGAA	0.582000													10	31					0	0	0.008291	0	0
CLYBL	171425	broad.mit.edu	37	13	100517153	100517153	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:100517153C>T	ENST00000376355.3	+	4	551	c.520C>T	c.(520-522)Cga>Tga	p.R174*	CLYBL_ENST00000376360.1_Nonsense_Mutation_p.R208*|CLYBL_ENST00000444838.2_Nonsense_Mutation_p.R174*|CLYBL_ENST00000339105.4_Nonsense_Mutation_p.R208*|CLYBL_ENST00000376354.1_Nonsense_Mutation_p.R174*	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	208					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGAAGACTTTCGAGCCAGCAT	0.443000													29	42					0	0	0.009535	0	0
ALG2	85365	broad.mit.edu	37	9	101980832	101980832	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:101980832A>G	ENST00000476832.1	-	2	696	c.635T>C	c.(634-636)gTt>gCt	p.V212A	ALG2_ENST00000319033.6_Missense_Mutation_p.V119A	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	212					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				CTTTTCAGGAACAACTGAGTC	0.438000													21	54					0	0	0.002780	0	0
PIGR	5284	broad.mit.edu	37	1	207110999	207110999	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:207110999C>T	ENST00000356495.4	-	4	669	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	162	Ig-like V-type 2.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAAGGACTTCCTCTTTTGAG	0.478000													12	9					0	0	0.001855	0	0
PLEC	5339	broad.mit.edu	37	8	144992198	144992198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:144992198C>T	ENST00000322810.4	-	32	12371	c.12202G>A	c.(12202-12204)Ggc>Agc	p.G4068S	PLEC_ENST00000354589.3_Missense_Mutation_p.G3931S|PLEC_ENST00000436759.2_Missense_Mutation_p.G3958S|PLEC_ENST00000398774.2_Missense_Mutation_p.G3899S|PLEC_ENST00000357649.2_Missense_Mutation_p.G3935S|PLEC_ENST00000345136.3_Missense_Mutation_p.G3931S|PLEC_ENST00000356346.3_Missense_Mutation_p.G3917S|PLEC_ENST00000527096.1_Missense_Mutation_p.G3954S|PLEC_ENST00000354958.2_Missense_Mutation_p.G3909S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4068	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCTGGTGCCTTCCAGGAAC	0.637000													8	8					0	0	0.003080	0	0
CCDC19	25790	broad.mit.edu	37	1	159842846	159842846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:159842846C>T	ENST00000426543.2	-	11	1665	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.E489K			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	489						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTCTGCACTTCCTTCTGCTGG	0.587000													9	49					0	0	0.008291	0	0
BUB1	699	broad.mit.edu	37	2	111414627	111414627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:111414627G>A	ENST00000535254.1	-	14	1691	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S	BUB1_ENST00000409311.1_Missense_Mutation_p.P562S|BUB1_ENST00000302759.6_Missense_Mutation_p.P562S	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	562					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGTTTTGAAGGAAGTCTGCTG	0.383000													17	8					0	0	0.008871	0	0
CCR1	1230	broad.mit.edu	37	3	46245057	46245057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:46245057G>A	ENST00000296140.3	-	2	873	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	250					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTCCAAAAGAGAAAAAAGATG	0.403000													9	18					0	0	0.008291	0	0
P2RY8	286530	broad.mit.edu	37	X	1585081	1585081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:1585081C>T	ENST00000381297.4	-	2	581	c.371G>A	c.(370-372)gGg>gAg	p.G124E		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	124						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				GTACAGGACCCCCAGGAAGCG	0.642000			T	CRLF2	"""B-ALL, Downs associated ALL"""								6	10					0	0	0.006214	0	0
KRTAP5-6	440023	broad.mit.edu	37	11	1718667	1718667	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:1718667G>A	ENST00000382160.1	+	1	243	c.192G>A	c.(190-192)ggG>ggA	p.G64G		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	64	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTCTTGTGGGGGCTCCAAAG	0.637000													24	81					0	0	0.005443	0	0
CNTN5	53942	broad.mit.edu	37	11	99786792	99786792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:99786792G>A	ENST00000524871.1	+	7	874	c.584G>A	c.(583-585)gGa>gAa	p.G195E	CNTN5_ENST00000528682.1_Missense_Mutation_p.G195E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G121E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G195E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G195E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	195					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G195E(1)		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)		ACAGATCTGGGAAATTTTAGT	0.423000													5	3					0	0	0.001984	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147024427	147024427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:147024427C>T	ENST00000265272.5	-	6	1536	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E315K|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E357K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	357						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAATTTTCCTTGGTAACG	0.408000													21	24					0	0	0.003954	0	0
CNGA4	1262	broad.mit.edu	37	11	6261570	6261570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:6261570G>A	ENST00000379936.2	+	4	661	c.546G>A	c.(544-546)tgG>tgA	p.W182*	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	182					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATCCATTGGAACAGCTGCC	0.592000													35	24					0	0	0.013726	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57467962	57467962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:57467962G>A	ENST00000394391.4	-	5	791	c.550C>T	c.(550-552)Cct>Tct	p.P184S	CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.P184S|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.P184S|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.P157S|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.P171S|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.P184S	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	184					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TTACCTGAAGGAGAAGACTTC	0.418000													42	2					0	0	0.014410	0	0
DNAH8	1769	broad.mit.edu	37	6	38951982	38951982	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:38951982G>A	ENST00000359357.3	+	85	12555	c.12300_splice	c.e85-1	p.G4101_splice	DNAH8_ENST00000441566.1_Splice_Site_p.G4065_splice					dynein, axonemal, heavy chain 8											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						TTTAATAAAGGGTGTATCATG	0.383000													16	14					0	0	0.006122	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44268820	44268820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:44268820G>A	ENST00000315087.7	-	4	1034	c.374C>T	c.(373-375)cCc>cTc	p.P125L	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.P94L|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.P161L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	125					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGTCCCCAGGGGAGTGTTCTT	0.572000													10	42					0	0	0.008291	0	0
CACHD1	57685	broad.mit.edu	37	1	65139132	65139132	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:65139132C>T	ENST00000371073.2	+	19	2712	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.F853F			Q5VU97	CAHD1_HUMAN	cache domain containing 1	904					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTTATAAATTCAACACCAGCC	0.413000													43	17					0	0	0.014410	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			85	37					0	0	0.014410	0	0
ITGA7	3679	broad.mit.edu	37	12	56086948	56086948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:56086948G>A	ENST00000257880.7	-	21	3040	c.2821C>T	c.(2821-2823)Ccc>Tcc	p.P941S	ITGA7_ENST00000347027.6_Missense_Mutation_p.P891S|ITGA7_ENST00000394229.2_Missense_Mutation_p.P897S|ITGA7_ENST00000394230.2_Missense_Mutation_p.P901S|ITGA7_ENST00000452168.2_Missense_Mutation_p.P804S|ITGA7_ENST00000257879.6_Missense_Mutation_p.P897S|ITGA7_ENST00000555728.1_Missense_Mutation_p.P941S|ITGA7_ENST00000553804.1_Missense_Mutation_p.P901S			Q13683	ITA7_HUMAN	integrin, alpha 7	941					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTGGGCCTGGGAGAGCAAAGC	0.587000													31	16					0	0	0.010818	0	0
MYO15A	51168	broad.mit.edu	37	17	18023761	18023761	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:18023761C>T	ENST00000205890.5	+	2	1985	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	549	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGTCGGCCTTCGGCGCCCACC	0.716000													3	2					0	0	0.004672	0	0
SPATA6L	55064	broad.mit.edu	37	9	4622493	4622493	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:4622493G>A	ENST00000454239.2	-	8	932	c.687C>T	c.(685-687)ccC>ccT	p.P229P	SPATA6L_ENST00000381895.5_Silent_p.P106P|SPATA6L_ENST00000381890.5_Silent_p.P243P|SPATA6L_ENST00000475086.1_Silent_p.P171P			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	171																	TCTCACCAAAGGGCTTTGCAC	0.433000													9	28					0	0	0.004482	0	0
DPH6	89978	broad.mit.edu	37	15	35814332	35814332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:35814332G>A	ENST00000440392.2	-	4	510	c.460C>T	c.(460-462)Cct>Tct	p.P154S	DPH6_ENST00000256538.4_Intron	NM_001141972.1	NP_001135444.1			diphthamine biosynthesis 6																		ATAAAAGGAGGAAATGTGTGT	0.383000													13	0					0	0	0.001855	0	0
WBP11	51729	broad.mit.edu	37	12	14941977	14941977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:14941977G>A	ENST00000261167.2	-	11	1633	c.1400C>T	c.(1399-1401)cCc>cTc	p.P467L	WBP11_ENST00000537574.1_Missense_Mutation_p.P433L	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	467	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AGGGCCAGGGGGTCGGCCTGG	0.652000													26	12					0	0	0.005443	0	0
KLHL18	23276	broad.mit.edu	37	3	47371613	47371613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:47371613G>A	ENST00000232766.5	+	4	594	c.574G>A	c.(574-576)Gag>Aag	p.E192K	KLHL18_ENST00000455924.2_Missense_Mutation_p.E80K	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	192	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GTCTCGGGATGAGCTGAATGT	0.498000													13	11					0	0	0.002450	0	0
SNRNP200	23020	broad.mit.edu	37	2	96964024	96964024	+	Silent	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:96964024G>T	ENST00000323853.5	-	9	1194	c.1117C>A	c.(1117-1119)Cga>Aga	p.R373R	SNRNP200_ENST00000349783.5_Silent_p.R373R	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	373						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTCCTTACTCGGATCAGATCC	0.433000													100	74					4.16533e-50	5.62383e-50	0.014410	1	0
CCDC37	348807	broad.mit.edu	37	3	126137366	126137366	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:126137366C>T	ENST00000393425.1	+	6	586	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	CCDC37_ENST00000352312.1_Nonsense_Mutation_p.Q162*|CCDC37_ENST00000505024.1_Nonsense_Mutation_p.Q163*			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	162										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GTTCCTCCTCCAGGTAGGTCC	0.607000													4	14					0	0	0.000602	0	0
SLC22A14	9389	broad.mit.edu	37	3	38350536	38350536	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:38350536C>T	ENST00000273173.4	+	4	958	c.867C>T	c.(865-867)atC>atT	p.I289I	SLC22A14_ENST00000448498.1_Silent_p.I289I	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	289						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TGACAGGGATCGCCTACAGTC	0.567000													41	34					0	0	0.014410	0	0
DNAH10	196385	broad.mit.edu	37	12	124398886	124398886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:124398886G>A	ENST00000409039.3	+	60	10034	c.10009G>A	c.(10009-10011)Gac>Aac	p.D3337N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3337					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTGGCTGAACGACCTGGATGA	0.602000													22	15					0	0	0.002780	0	0
MAP10	54627	broad.mit.edu	37	1	232943530	232943530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:232943530C>T	ENST00000418460.1	+	1	2888	c.2761C>T	c.(2761-2763)Cat>Tat	p.H921Y		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		CAGAAAATTTCATATTTCAAA	0.383000													36	18					0	0	0.006999	0	0
C4BPB	725	broad.mit.edu	37	1	207265062	207265062	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:207265062A>T	ENST00000243611.5	+	3	600	c.306A>T	c.(304-306)aaA>aaT	p.K102N	C4BPB_ENST00000367078.3_Missense_Mutation_p.K102N|C4BPB_ENST00000367076.3_Missense_Mutation_p.K101N|C4BPB_ENST00000451804.2_Missense_Mutation_p.K92N|C4BPB_ENST00000391923.1_Missense_Mutation_p.K102N	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	102	Sushi 2.		K -> Q (in dbSNP:rs56258224).		blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						TAAGTGACAAAATCACGTTTA	0.488000													17	69					0	0	0.006122	0	0
CTBS	1486	broad.mit.edu	37	1	85029459	85029459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:85029459G>A	ENST00000370630.4	-	5	802	c.754C>T	c.(754-756)Cct>Tct	p.P252S	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	252						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		CCATACCAAGGAACACCCATT	0.323000													66	31					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9046165	9046165	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9046165G>A	ENST00000397910.4	-	5	35669	c.35466C>T	c.(35464-35466)ctC>ctT	p.L11822L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11824	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						GTAGGGTGAAGAGAGAGGATG	0.498000													9	16					0	0	0.006214	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576745	158576745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:158576745G>A	ENST00000361284.1	+	1	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CAGCTCCCATGAAATCCAGCA	0.498000													11	26					0	0	0.013537	0	0
COBL	23242	broad.mit.edu	37	7	51261210	51261210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:51261210G>A	ENST00000395542.2	-	3	506	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	COBL_ENST00000395540.2_Missense_Mutation_p.R108W|COBL_ENST00000265136.7_Missense_Mutation_p.R108W|COBL_ENST00000441453.1_Missense_Mutation_p.R108W			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	108										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCTGAAGACCGAATTTCAAGG	0.418000													26	1					0	0	0.008361	0	0
ARID4B	51742	broad.mit.edu	37	1	235384943	235384943	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:235384943T>C	ENST00000264183.3	-	14	1597	c.1100A>G	c.(1099-1101)cAa>cGa	p.Q367R	ARID4B_ENST00000366603.2_Missense_Mutation_p.Q367R|ARID4B_ENST00000349213.3_Missense_Mutation_p.Q367R	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	367	ARID.|Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCAAGATCTTGGTAGACTTG	0.294000													10	46					0	0	0.003163	0	0
CCDC36	339834	broad.mit.edu	37	3	49294323	49294323	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49294323C>A	ENST00000438782.1	+	8	1629	c.1393C>A	c.(1393-1395)Cca>Aca	p.P465T	CCDC36_ENST00000296449.5_Missense_Mutation_p.P465T|CCDC36_ENST00000452691.2_Missense_Mutation_p.P465T			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	465										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AAAACAAATCCCAATCCAGAC	0.537000													52	32					1.81118e-26	2.43465e-26	0.014410	1	0
POU5F1B	5462	broad.mit.edu	37	8	128428301	128428301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:128428301C>T	ENST00000465342.2	+	2	1347	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S	CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.P64S|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	64						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						TCCCCCTTGCCCCCCGCCGTA	0.652000													7	0					0	0	0.006214	0	0
SATB2	23314	broad.mit.edu	37	2	200137354	200137354	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:200137354G>A	ENST00000443023.1	-	10	3070	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	SATB2_ENST00000457245.1_Silent_p.S594S|SATB2_ENST00000417098.1_Silent_p.S594S|SATB2_ENST00000260926.5_Silent_p.S594S|SATB2_ENST00000428695.1_Silent_p.S476S			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	594						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTCTGGGAGGGGAACTCTCCT	0.498000													54	38					0	0	0.014410	0	0
CST1	1469	broad.mit.edu	37	20	23728483	23728483	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:23728483G>A	ENST00000304749.2	-	3	466	c.396C>T	c.(394-396)tcC>tcT	p.S132S	CST1_ENST00000398402.1_Silent_p.S132S	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	132						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					ATTTCACCAGGGACCTTCTGT	0.542000													16	20					0	0	0.006122	0	0
CNTRL	11064	broad.mit.edu	37	9	123912507	123912507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:123912507C>T	ENST00000373855.1	+	25	3969	c.3709C>T	c.(3709-3711)Cca>Tca	p.P1237S	CNTRL_ENST00000238341.5_Missense_Mutation_p.P1237S|CNTRL_ENST00000373847.1_Missense_Mutation_p.P685S|CNTRL_ENST00000373850.1_Missense_Mutation_p.P685S			Q7Z7A1	CNTRL_HUMAN	centriolin	1237	Pro-rich.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGAAGAACCCCCATTTGTGCC	0.483000													16	19					0	0	0.004990	0	0
ABCC9	10060	broad.mit.edu	37	12	22078976	22078976	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:22078976G>A	ENST00000261200.4	-	3	305	c.306C>T	c.(304-306)ctC>ctT	p.L102L	ABCC9_ENST00000326684.4_Silent_p.L102L|ABCC9_ENST00000345162.2_Silent_p.L102L|ABCC9_ENST00000538350.1_Silent_p.L102L|ABCC9_ENST00000261201.4_Silent_p.L102L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	102					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAAGAGGTGGAGGTGCCTTG	0.378000													17	38					0	0	0.008871	0	0
OXTR	5021	broad.mit.edu	37	3	8794730	8794730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:8794730G>A	ENST00000316793.3	-	4	1727	c.1103C>T	c.(1102-1104)tCg>tTg	p.S368L	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	368					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	AAAGGAGGACGAGTTGCTCTT	0.642000													15	27					0	0	0.004990	0	0
GPR139	124274	broad.mit.edu	37	16	20043735	20043735	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20043735G>A	ENST00000570682.1	-	2	684	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	128						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGCAGACAGCGATATACCTGT	0.507000													47	64					0	0	0.014410	0	0
COPG2	26958	broad.mit.edu	37	7	130147558	130147558	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:130147558G>A	ENST00000604965.1	+	0	58																											GAGGGCAAAGGTTTCCTCTTT	0.428000													117	163					0	0	0.014410	0	0
CES5A	221223	broad.mit.edu	37	16	55886805	55886805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:55886805G>A	ENST00000521992.1	-	11	1493	c.1348C>T	c.(1348-1350)Cga>Tga	p.R450*	CES5A_ENST00000319165.9_Nonsense_Mutation_p.R421*|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000290567.9_Nonsense_Mutation_p.R421*|CES5A_ENST00000518005.1_Nonsense_Mutation_p.R315*|CES5A_ENST00000520435.1_Nonsense_Mutation_p.R391*	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	421						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGTGATATCGAGCTGTGATC	0.517000													25	4					0	0	0.003954	0	0
IGSF5	150084	broad.mit.edu	37	21	41165490	41165490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:41165490G>A	ENST00000380588.4	+	8	1181	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	360						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CAAATCCTGTGAATCCAGTGA	0.418000													69	63					0	0	0.014410	0	0
ALKBH4	54784	broad.mit.edu	37	7	102098210	102098210	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:102098210C>T	ENST00000292566.3	-	3	579	c.540G>A	c.(538-540)ctG>ctA	p.L180L		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	180						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						TGAGGCTGACCAGCCGCTCCC	0.721000													5	10					0	0	0.000602	0	0
OR4M1	441670	broad.mit.edu	37	14	20248501	20248501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:20248501C>T	ENST00000315957.4	+	1	101	c.20C>T	c.(19-21)aCc>aTc	p.T7I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCAAATTACACCAAGGTGACA	0.333000													21	23					0	0	0.012319	0	0
PDP2	57546	broad.mit.edu	37	16	66918541	66918541	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:66918541C>T	ENST00000311765.2	+	2	688	c.354C>T	c.(352-354)tcC>tcT	p.S118S	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	118					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CTGCCAATTCCCCAGTGGAGG	0.542000													34	2					0	0	0.013726	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917437	89917437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:89917437C>T	ENST00000548729.1	-	3	1183	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	POC1B-GALNT4_ENST00000547474.1_Silent_p.A38A|POC1B_ENST00000549035.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.R297Q|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.R125Q	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					TCTTGATATCCGCCTGTCCCT	0.458000													10	33					0	0	0.008291	0	0
MRPL45	84311	broad.mit.edu	37	17	36474633	36474633	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:36474633C>T	ENST00000312513.5	+	5	670	c.510_splice	c.e5+1	p.P170_splice		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	170					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CACTGTTTTCCAGTAAGTTCT	0.378000													35	50					0	0	0.009718	0	0
FRG2B	441581	broad.mit.edu	37	10	135438886	135438886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:135438886G>A	ENST00000443774.1	-	4	606	c.557C>T	c.(556-558)gCt>gTt	p.A186V	FRG2B_ENST00000425520.1_Missense_Mutation_p.A185V			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	185						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTGATAAACAGCCTCTGACAT	0.572000													30	74					0	0	0.004289	0	0
STIL	6491	broad.mit.edu	37	1	47753279	47753279	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:47753279G>A	ENST00000360380.3	-	11	1440	c.1077C>T	c.(1075-1077)agC>agT	p.S359S	STIL_ENST00000243182.6_Silent_p.S359S|STIL_ENST00000371877.3_Silent_p.S359S|STIL_ENST00000337817.5_Silent_p.S359S|STIL_ENST00000396221.2_Silent_p.S359S			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	359					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGCATTTTGGCTTTCAGCGC	0.318000													31	10					0	0	0.003271	0	0
TRPV4	59341	broad.mit.edu	37	12	110236612	110236612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:110236612C>T	ENST00000418703.2	-	5	1053	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	TRPV4_ENST00000346520.2_Missense_Mutation_p.R320Q|TRPV4_ENST00000544971.1_Missense_Mutation_p.R273Q|TRPV4_ENST00000541794.1_Missense_Mutation_p.R273Q|TRPV4_ENST00000261740.2_Missense_Mutation_p.R320Q|TRPV4_ENST00000537083.1_Missense_Mutation_p.R320Q|TRPV4_ENST00000536838.1_Missense_Mutation_p.R286Q|TRPV4_ENST00000392719.2_Missense_Mutation_p.R273Q	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	320					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGTGTTGCCTCGCGAGTCCTG	0.592000													11	31					0	0	0.010729	0	0
OR4K14	122740	broad.mit.edu	37	14	20482618	20482618	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:20482618G>A	ENST00000305045.2	-	1	734	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCACTACCATGATATGTGCAG	0.493000													7	13					0	0	0.004482	0	0
GPR176	11245	broad.mit.edu	37	15	40094284	40094284	+	Silent	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:40094284G>T	ENST00000299092.3	-	4	792	c.594C>A	c.(592-594)tcC>tcA	p.S198S	GPR176_ENST00000561100.1_Silent_p.S199S|GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000543580.1_Silent_p.S154S	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	199					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGTGGCCCAAGGAGTTGCTCC	0.557000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	27					1.08611e-07	1.44248e-07	0.010729	1	0
KIAA1109	84162	broad.mit.edu	37	4	123274173	123274173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:123274173C>T	ENST00000264501.4	+	81	14337	c.13964C>T	c.(13963-13965)tCa>tTa	p.S4655L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S4655L			Q2LD37	K1109_HUMAN	KIAA1109	4655					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTGGAGGATCAATGAGCTTA	0.388000													32	29					0	0	0.003271	0	0
CACNA1B	774	broad.mit.edu	37	9	140881234	140881234	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:140881234G>A	ENST00000371372.1	+	15	2047	c.1901_splice	c.e15-1	p.Q634_splice	CACNA1B_ENST00000371355.4_Splice_Site_p.Q635_splice|CACNA1B_ENST00000277551.2_Splice_Site_p.Q634_splice|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Splice_Site_p.Q635_splice|CACNA1B_ENST00000371363.1_Splice_Site_p.Q634_splice	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	634					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTTTCCTCAGGTTCAACTTCC	0.597000													69	40					0	0	0.014410	0	0
ANKRD26	22852	broad.mit.edu	37	10	27389211	27389211	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:27389211G>A	ENST00000376087.4	-	1	210	c.45C>T	c.(43-45)tcC>tcT	p.S15S	ANKRD26_ENST00000436985.2_Silent_p.S15S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	15						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GCCGCGCGAAGGAGCCCAAGG	0.667000													21	28					0	0	0.002780	0	0
CMYA5	202333	broad.mit.edu	37	5	79028970	79028970	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:79028970C>T	ENST00000446378.2	+	2	4413	c.4382C>T	c.(4381-4383)tCa>tTa	p.S1461L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1461						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTGTTTTGTCAGAAGTAGAA	0.383000													21	15					0	0	0.014323	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698746	17698746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:17698746C>T	ENST00000399080.2	-	1	960	c.937G>A	c.(937-939)Gat>Aat	p.D313N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	313										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTTTTTTATCATTCTGTAAC	0.323000													13	12					0	0	0.013537	0	0
C8B	732	broad.mit.edu	37	1	57422539	57422539	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:57422539T>C	ENST00000543257.1	-	4	704	c.138A>G	c.(136-138)gaA>gaG	p.E46E	C8B_ENST00000535057.1_Silent_p.E36E|C8B_ENST00000371237.4_Silent_p.E98E	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	98					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						AGTTGCACGGTTCCCCATGGA	0.517000													62	22					0	0	0.014410	0	0
SAFB2	9667	broad.mit.edu	37	19	5590305	5590305	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:5590305G>A	ENST00000252542.4	-	18	2773	c.2509C>T	c.(2509-2511)Ctg>Ttg	p.L837L		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	837	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GGAGGGGGCAGCCCCCGGCCT	0.706000													7	11					0	0	0.004482	0	0
OR6B2	389090	broad.mit.edu	37	2	240969586	240969586	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:240969586G>A	ENST00000402971.2	-	1	320	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GTTTCTGCTGGAGGAGGAAGC	0.567000													21	23					0	0	0.008361	0	0
ACSM2A	123876	broad.mit.edu	37	16	20471532	20471532	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20471532C>T	ENST00000573854.1	+	2	210	c.96C>T	c.(94-96)tcC>tcT	p.S32S	ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000219054.6_Silent_p.S32S|ACSM2A_ENST00000424070.1_Silent_p.S32S|ACSM2A_ENST00000396104.2_Silent_p.S32S|ACSM2A_ENST00000575690.1_Silent_p.S32S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	32					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.S32S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AACTGGTGTCCCTGCAGTGGG	0.512000													13	10					0	0	0.013537	0	0
RIMS1	22999	broad.mit.edu	37	6	72975145	72975145	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:72975145T>C	ENST00000521978.1	+	21	3247	c.3247T>C	c.(3247-3249)Tcc>Ccc	p.S1083P	RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000425662.2_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1083					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACAGGACATTTCCCTTCATCA	0.318000													11	20					0	0	0.013537	0	0
PPFIA1	8500	broad.mit.edu	37	11	70171015	70171015	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:70171015G>A	ENST00000253925.7	+	4	644	c.429G>A	c.(427-429)gtG>gtA	p.V143V	PPFIA1_ENST00000389547.3_Silent_p.V143V|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	143					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGATGACCGTGGTGAAGAGAC	0.473000													67	82					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227177	25227177	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:25227177G>A	ENST00000551631.2	+	0	480				SNHG14_ENST00000551361.1_RNA|SNHG14_ENST00000459433.1_RNA	NR_001293.1																						TGAACATAATGATTTCAAAAT	0.348000													152	155					0	0	0.014410	0	0
PCDH18	54510	broad.mit.edu	37	4	138451832	138451832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:138451832C>T	ENST00000344876.4	-	1	1797	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	PCDH18_ENST00000412923.2_Missense_Mutation_p.E471K|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E251K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	471	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATTACAAATTCATATCGGCTT	0.423000													57	65					0	0	0.014410	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764012	140764012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140764012G>A	ENST00000518325.1	+	1	1546	c.1546G>A	c.(1546-1548)Gcg>Acg	p.A516T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCTGTACGCGCTGCAATC	0.517000													7	20					0	0	0.003080	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677193	55677193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55677193G>A	ENST00000455045.1	-	1	22	c.23C>T	c.(22-24)cCc>cTc	p.P8L	DNAAF3_ENST00000527223.2_Intron|DNAAF3_ENST00000524407.2_Intron|DNAAF3_ENST00000391720.4_Intron|CTD-2587H24.5_ENST00000591665.1_RNA			Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	0																	caaggactcgggAATCTGGGC	0.577000													7	6					0	0	0.001984	0	0
MRPS7	51081	broad.mit.edu	37	17	73259493	73259493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:73259493G>T	ENST00000579761.1	+	4	639	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	MRPS7_ENST00000579002.1_Nonsense_Mutation_p.E167*|MRPS7_ENST00000245539.6_Nonsense_Mutation_p.E138*			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	138					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			GGCAACCATCGAACGCAACCC	0.502000													6	188					0.00198382	0.0026173	0.001984	1	0
PDE3A	5139	broad.mit.edu	37	12	20799792	20799792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:20799792G>A	ENST00000359062.3	+	12	2513	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	825	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCCTGCCTTGGAGTTGATGGC	0.438000													23	59					0	0	0.003330	0	0
SLC45A2	51151	broad.mit.edu	37	5	33984337	33984337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:33984337C>T	ENST00000382102.3	-	1	409	c.352G>A	c.(352-354)Gct>Act	p.A118T	SLC45A2_ENST00000296589.4_Missense_Mutation_p.A118T|SLC45A2_ENST00000345083.5_Missense_Mutation_p.A118T|SLC45A2_ENST00000509381.1_Missense_Mutation_p.A118T|SLC45A2_ENST00000342059.3_Missense_Mutation_p.A118T	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	118					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AGGTACAGAGCCATGCCCACG	0.617000													18	19					0	0	0.007413	0	0
KRT36	8689	broad.mit.edu	37	17	39643898	39643898	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:39643898T>A	ENST00000393986.2	-	5	853	c.641A>T	c.(640-642)gAt>gTt	p.D214V	KRT36_ENST00000328119.6_Missense_Mutation_p.D264V			O76013	KRT36_HUMAN	keratin 36	264	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCATCTCATATCCTCCAGGAT	0.592000													39	58					0	0	0.011902	0	0
UNC5C	8633	broad.mit.edu	37	4	96104135	96104135	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:96104135C>T	ENST00000453304.1	-	14	2712	c.2364G>A	c.(2362-2364)ctG>ctA	p.L788L		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	788					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CCACTGTGTTCAGGCTAAATC	0.473000													47	44					0	0	0.014410	0	0
FHOD3	80206	broad.mit.edu	37	18	34205568	34205568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:34205568G>A	ENST00000257209.4	+	10	1174	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	FHOD3_ENST00000445677.1_Missense_Mutation_p.G351E|FHOD3_ENST00000591635.1_Missense_Mutation_p.E26K|FHOD3_ENST00000359247.4_Missense_Mutation_p.G351E|FHOD3_ENST00000590592.1_Missense_Mutation_p.G351E	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	351	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCCAGTGGCGGAGGCGAGCAC	0.697000													5	12					0	0	0.000602	0	0
TNRC6B	23112	broad.mit.edu	37	22	40708540	40708540	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:40708540C>T	ENST00000454349.2	+	18	4678	c.4467C>T	c.(4465-4467)atC>atT	p.I1489I	TNRC6B_ENST00000402203.1_Silent_p.I685I|TNRC6B_ENST00000301923.9_Silent_p.I685I|TNRC6B_ENST00000335727.8_Silent_p.I1379I	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1489					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GGAAAGGTATCCAAAACATTG	0.433000													30	28					0	0	0.008361	0	0
CCDC14	64770	broad.mit.edu	37	3	123634301	123634301	+	Silent	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:123634301G>C	ENST00000485727.1	-	9	6179	c.1587C>G	c.(1585-1587)tcC>tcG	p.S529S	CCDC14_ENST00000310351.4_Silent_p.S569S|CCDC14_ENST00000433542.2_Silent_p.S688S|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000488653.2_Silent_p.S729S|CCDC14_ENST00000489746.1_Silent_p.S529S			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	729						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GGCCTCTGGAGGACAGAACAT	0.403000													34	32					0	0	0.003755	0	0
OR10J5	127385	broad.mit.edu	37	1	159505099	159505099	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:159505099C>T	ENST00000334857.2	-	1	743	c.699G>A	c.(697-699)cgG>cgA	p.R233R		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	233			R -> W (in dbSNP:rs35393723).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGGTCTTCTTCCGGCCCTCAG	0.478000													16	14					0	0	0.004007	0	0
NETO1	81832	broad.mit.edu	37	18	70526289	70526289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:70526289C>T	ENST00000327305.6	-	4	898	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000583169.1_Missense_Mutation_p.E81K|NETO1_ENST00000397929.1_Missense_Mutation_p.E80K|NETO1_ENST00000299430.2_Missense_Mutation_p.E80K	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	81	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)		AAGTAAAGTTCAATGCACTGT	0.368000													5	29					0	0	0.004482	0	0
MED1	5469	broad.mit.edu	37	17	37576034	37576034	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:37576034G>A	ENST00000300651.6	-	14	1456	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	MED1_ENST00000394287.3_Silent_p.I411I	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	411	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTTGGTGTCTGATCAGATTTA	0.458000										HNSCC(31;0.082)			64	81					0	0	0.014410	0	0
ARSF	416	broad.mit.edu	37	X	3021880	3021880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:3021880G>A	ENST00000381127.1	+	9	1401	c.1180G>A	c.(1180-1182)Gga>Aga	p.G394R	ARSF_ENST00000537104.1_Missense_Mutation_p.G394R|ARSF_ENST00000359361.2_Missense_Mutation_p.G394R	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	394						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				GGTACCAGCTGGACGGTTGAT	0.473000													19	2					0	0	0.007413	0	0
CENPE	1062	broad.mit.edu	37	4	104079788	104079788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:104079788G>A	ENST00000265148.3	-	23	2946	c.2857C>T	c.(2857-2859)Cac>Tac	p.H953Y	CENPE_ENST00000380026.3_Missense_Mutation_p.H928Y	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	953					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACAGTATCGTGAATATCACTT	0.299000													23	34					0	0	0.010818	0	0
SCYL2	55681	broad.mit.edu	37	12	100708392	100708392	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:100708392G>A	ENST00000360820.2	+	8	1532	c.1095_splice	c.e8+1	p.K365_splice		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	365					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AACTGCCCAAGGTTTGTTATT	0.299000													24	17					0	0	0.005443	0	0
SNAP91	9892	broad.mit.edu	37	6	84292075	84292075	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:84292075C>T	ENST00000428679.2	-	23	2608	c.2014_splice	c.e23-1	p.G672_splice	SNAP91_ENST00000521743.1_Splice_Site_p.G672_splice|SNAP91_ENST00000369694.2_Splice_Site_p.G672_splice|SNAP91_ENST00000521485.1_Splice_Site_p.G672_splice|SNAP91_ENST00000437520.1_Splice_Site_p.G365_splice|SNAP91_ENST00000195649.6_Splice_Site_p.G672_splice|SNAP91_ENST00000439399.2_Splice_Site_p.G672_splice|SNAP91_ENST00000520213.1_Splice_Site_p.G365_splice|SNAP91_ENST00000520302.1_Splice_Site_p.G642_splice			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	672					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACCCCCAAATCCTGAAAAAAA	0.398000													10	13					0	0	0.006214	0	0
TCTEX1D2	255758	broad.mit.edu	37	3	196022888	196022888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:196022888C>T	ENST00000325318.5	-	4	505	c.370G>A	c.(370-372)Gtt>Att	p.V124I		NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	124							protein binding	p.V124I(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TTCATGAAAACATCATGAGTA	0.383000													23	18					0	0	0.005443	0	0
KRT83	3889	broad.mit.edu	37	12	52714916	52714916	+	Silent	SNP	G	G	A	rs148290789		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:52714916G>A	ENST00000293670.3	-	1	266	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	68	Head.				epidermis development	keratin filament	structural molecule activity	p.F68F(1)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCGGTAGCCGAAGCTGCGTC	0.711000													14	30					0	0	0.001855	0	0
OR8K3	219473	broad.mit.edu	37	11	56086579	56086579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:56086579C>T	ENST00000312711.1	+	1	797	c.797C>T	c.(796-798)tCc>tTc	p.S266F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCCAGTCATTCCTTTGACACT	0.423000													7	29					0	0	0.004482	0	0
SOGA3	387104	broad.mit.edu	37	6	127796827	127796827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:127796827C>T	ENST00000556132.1	-	6	3208	c.2344G>A	c.(2344-2346)Gac>Aac	p.D782N	SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Missense_Mutation_p.D782N|SOGA3_ENST00000368268.2_Missense_Mutation_p.D782N|SOGA3_ENST00000465909.2_Missense_Mutation_p.D782N|SOGA3_ENST00000525778.1_Missense_Mutation_p.D782N	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	782						integral to membrane											TCCTCCGAGTCGCTCTCGCCG	0.711000													27	31					0	0	0.004656	0	0
CTNNA3	29119	broad.mit.edu	37	10	68381491	68381491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:68381491C>T	ENST00000433211.1	-	10	1507	c.1333G>A	c.(1333-1335)Gtc>Atc	p.V445I	CTNNA3_ENST00000373744.4_Missense_Mutation_p.V445I	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	445					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCAATTTTGACAATTTTAATT	0.294000													6	16					0	0	0.001984	0	0
AKT3	10000	broad.mit.edu	37	1	243859016	243859016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:243859016C>T	ENST00000366539.1	-	3	249	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	AKT3_ENST00000336199.5_Missense_Mutation_p.E17K|AKT3_ENST00000263826.5_Missense_Mutation_p.E17K|AKT3_ENST00000366540.1_Missense_Mutation_p.E17K			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	17	PH.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.E17K(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TTTATATATTCTCCTACATGA	0.348000													6	10					0	0	0.004482	0	0
CALCRL	10203	broad.mit.edu	37	2	188248013	188248013	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:188248013A>G	ENST00000409998.1	-	6	852	c.71T>C	c.(70-72)tTa>tCa	p.L24S	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.L24S|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.L24S			Q16602	CALRL_HUMAN	calcitonin receptor-like	24						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ACTCTCTTCTAATTCTGCTGT	0.348000													8	14					0	0	0.003080	0	0
ATF6	22926	broad.mit.edu	37	1	161789483	161789483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:161789483C>T	ENST00000367942.3	+	8	1037	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	324					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TTGTCAGTCTCGCAAGAAGAA	0.398000													8	32					0	0	0.006214	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433251	72433251	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:72433251T>C	ENST00000373517.3	-	1	1433	c.1078A>G	c.(1078-1080)Act>Gct	p.T360A	NAP1L2_ENST00000536638.1_Missense_Mutation_p.T218A	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	360					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCAGTTACAGTTCGGATTGTT	0.378000													32	3					0	0	0.009535	0	0
SZT2	23334	broad.mit.edu	37	1	43903334	43903334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:43903334C>T	ENST00000562955.1	+	44	6188	c.6188C>T	c.(6187-6189)tCc>tTc	p.S2063F	SZT2_ENST00000372442.1_Missense_Mutation_p.S1221F	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2120						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCGCTCTGTCCCGAAGCCAA	0.582000													24	7					0	0	0.003330	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24250837	24250837	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:24250837C>T	ENST00000538205.1	+	4	580	c.33C>T	c.(31-33)tcC>tcT	p.S11S	ADAMDEC1_ENST00000256412.4_Silent_p.S90S|ADAMDEC1_ENST00000522298.1_Silent_p.S11S|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	90					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TCATTCTCTCCCTACAAAAAA	0.333000													11	3					0	0	0.003163	0	0
RELN	5649	broad.mit.edu	37	7	103179574	103179574	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:103179574G>A	ENST00000428762.1	-	45	7290	c.7131C>T	c.(7129-7131)ttC>ttT	p.F2377F	RELN_ENST00000424685.2_Silent_p.F2377F|RELN_ENST00000343529.5_Silent_p.F2377F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2377					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)		CTATCTGTAGGAAGGAATCCT	0.537000													18	21					0	0	0.010504	0	0
HDC	3067	broad.mit.edu	37	15	50535044	50535044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:50535044G>A	ENST00000267845.3	-	12	1804	c.1402C>T	c.(1402-1404)Cga>Tga	p.R468*	HDC_ENST00000543581.1_Nonsense_Mutation_p.R435*	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	468					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCAGCATCTCGAATGAGATTC	0.542000													23	20					0	0	0.003954	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094867	139094867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:139094867C>T	ENST00000332797.6	+	1	211	c.56C>T	c.(55-57)cCg>cTg	p.P19L		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	19										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GCGGGGCTTCCGCTTGGGGCA	0.622000													54	83					0	0	0.014410	0	0
ACADL	33	broad.mit.edu	37	2	211070463	211070463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:211070463G>A	ENST00000233710.3	-	6	888	c.661C>T	c.(661-663)Cat>Tat	p.H221Y	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	221					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		GGAGCTTCATGATTTGTGACC	0.393000													9	32					0	0	0.006214	0	0
TMTC4	84899	broad.mit.edu	37	13	101264734	101264734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:101264734C>T	ENST00000342624.5	-	17	2240	c.1982G>A	c.(1981-1983)aGa>aAa	p.R661K	TMTC4_ENST00000376234.3_Missense_Mutation_p.R642K|TMTC4_ENST00000328767.5_Missense_Mutation_p.R531K	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	642						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGTGCCTCTCTTCCAACTGC	0.418000													22	38					0	0	0.003954	0	0
VPS53	55275	broad.mit.edu	37	17	531397	531397	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:531397C>G	ENST00000437048.2	-	9	908	c.762G>C	c.(760-762)caG>caC	p.Q254H	VPS53_ENST00000401468.3_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.Q225H|VPS53_ENST00000446250.2_Missense_Mutation_p.Q56H|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.Q254H	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	254					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGATGATTTCCTGTTTGATCC	0.378000													22	11					0	0	0.014323	0	0
GRID2	2895	broad.mit.edu	37	4	94137945	94137945	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:94137945G>A	ENST00000282020.4	+	6	1104	c.846G>A	c.(844-846)acG>acA	p.T282T	GRID2_ENST00000510992.1_Silent_p.T187T|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	282					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			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)	GAAGGTTAACGATTATTCGGC	0.398000													7	20					0	0	0.001984	0	0
LOXL3	84695	broad.mit.edu	37	2	74779607	74779607	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:74779607T>A	ENST00000264094.3	-	2	226	c.155A>T	c.(154-156)aAg>aTg	p.K52M	LOXL3_ENST00000409249.1_Missense_Mutation_p.K52M|LOXL3_ENST00000484369.1_5'UTR|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.K52M|LOXL3_ENST00000393937.2_Missense_Mutation_p.K52M|LOXL3_ENST00000409986.1_Missense_Mutation_p.K52M	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	52	SRCR 1.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTCGTAGGGCTTCCTGGGGAA	0.657000													20	23					0	0	0.003330	0	0
BMP15	9210	broad.mit.edu	37	X	50659393	50659393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:50659393G>A	ENST00000252677.3	+	2	965	c.965G>A	c.(964-966)gGa>gAa	p.G322E		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	322					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TACTGTAAAGGAACTTGTCTC	0.522000													47	2					0	0	0.014410	0	0
RNF44	22838	broad.mit.edu	37	5	175957085	175957085	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:175957085G>A	ENST00000274811.4	-	7	1448	c.924C>T	c.(922-924)ttC>ttT	p.F308F	RNF44_ENST00000537487.1_Silent_p.F227F	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	308	Pro-rich.						zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATACTTACAGGAAGTAGGGCA	0.652000													4	9					0	0	0.009096	0	0
MED13	9969	broad.mit.edu	37	17	60062026	60062026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:60062026G>A	ENST00000397786.2	-	14	2753	c.2677C>T	c.(2677-2679)Cct>Tct	p.P893S		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	893					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTTCAGAAGGTTTGGGGCTA	0.308000													23	22					0	0	0.003954	0	0
SOGA2	23255	broad.mit.edu	37	18	8798140	8798140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:8798140C>T	ENST00000359865.3	+	10	2429	c.2287C>T	c.(2287-2289)Cag>Tag	p.Q763*	SOGA2_ENST00000306329.11_Nonsense_Mutation_p.Q1082*|SOGA2_ENST00000306285.7_Nonsense_Mutation_p.Q78*|SOGA2_ENST00000400050.3_Nonsense_Mutation_p.Q722*|SOGA2_ENST00000518815.1_Nonsense_Mutation_p.Q78*|SOGA2_ENST00000517570.1_Nonsense_Mutation_p.Q722*	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1073																	GCTTGGAGTCCAGGGGGGTCA	0.602000													19	16					0	0	0.008871	0	0
CEP72	55722	broad.mit.edu	37	5	637792	637792	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:637792G>A	ENST00000264935.5	+	7	1155	c.1065G>A	c.(1063-1065)gaG>gaA	p.E355E	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	355					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GCTGCCCGGAGAGAACTCATG	0.607000													8	13					0	0	0.003080	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270045	36270045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:36270045G>A	ENST00000394571.2	+	6	1183	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	PNPLA1_ENST00000312917.5_Missense_Mutation_p.G309R|PNPLA1_ENST00000388715.3_Missense_Mutation_p.G300R	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	395	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCCACCACCTGGACTGTCACC	0.582000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	50					0	0	0.003271	0	0
LRP1	4035	broad.mit.edu	37	12	57571295	57571295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:57571295C>T	ENST00000243077.3	+	26	4748	c.4282C>T	c.(4282-4284)Cgg>Tgg	p.R1428W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1428					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCGTGCACCGGGAGACCGG	0.667000													30	14					0	0	0.005524	0	0
SLC25A23	79085	broad.mit.edu	37	19	6459553	6459553	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:6459553C>T	ENST00000301454.4	-	1	193	c.87G>A	c.(85-87)gtG>gtA	p.V29V	SLC25A23_ENST00000334510.5_Silent_p.V29V	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	29	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CGTGCACGTCCACGCGGCCAT	0.756000													21	28					0	0	0.003954	0	0
HRH1	3269	broad.mit.edu	37	3	11301716	11301716	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:11301716C>T	ENST00000397056.1	+	3	1184	c.993C>T	c.(991-993)ctC>ctT	p.L331L	HRH1_ENST00000438284.2_Silent_p.L331L|HRH1_ENST00000431010.2_Silent_p.L331L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	331					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	ATGGCCAGCTCAAGACAGATG	0.527000													33	16					0	0	0.013726	0	0
PACSIN3	29763	broad.mit.edu	37	11	47202098	47202098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:47202098G>A	ENST00000539589.1	-	5	697	c.355C>T	c.(355-357)Cac>Tac	p.H119Y	PACSIN3_ENST00000298838.6_Missense_Mutation_p.H119Y	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	119					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						ACAGGCCGGTGGAAAGCCCCC	0.721000													13	25					0	0	0.001855	0	0
ARSH	347527	broad.mit.edu	37	X	2942157	2942157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:2942157G>A	ENST00000381130.2	+	6	997	c.997G>A	c.(997-999)Ggg>Agg	p.G333R		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	333						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCCCCTGGACGGGGCTGTTCA	0.552000													27	1					0	0	0.005443	0	0
TECTA	7007	broad.mit.edu	37	11	120996388	120996388	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:120996388C>T	ENST00000392793.1	+	8	1852	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	TECTA_ENST00000264037.2_Silent_p.L527L			O75443	TECTA_HUMAN	tectorin alpha	527	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCGGCTTCCTCAACAAGACAG	0.592000													60	89					0	0	0.014410	0	0
DNAH3	55567	broad.mit.edu	37	16	20996655	20996655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20996655C>T	ENST00000261383.3	-	48	7408	c.7409G>A	c.(7408-7410)cGa>cAa	p.R2470Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2470	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGATCTTCTCGCCAGTCATT	0.522000													17	9					0	0	0.008871	0	0
SLC9C1	285335	broad.mit.edu	37	3	111887837	111887837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:111887837C>T	ENST00000305815.5	-	25	3376	c.3124G>A	c.(3124-3126)Gat>Aat	p.D1042N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.D994N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1042					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TCATAAATATCAGTTTTGGTA	0.303000													19	12					0	0	0.007413	0	0
OTOF	9381	broad.mit.edu	37	2	26724665	26724665	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:26724665T>C	ENST00000272371.2	-	8	848	c.722A>G	c.(721-723)gAc>gGc	p.D241G	OTOF_ENST00000403946.3_Missense_Mutation_p.D241G	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	241	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCTTAATGTCTGGCTTAGA	0.562000													13	23					0	0	0.004007	0	0
CNTN4	152330	broad.mit.edu	37	3	2787246	2787246	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:2787246T>A	ENST00000397461.1	+	5	607	c.223T>A	c.(223-225)Ttc>Atc	p.F75I	CNTN4_ENST00000427331.1_Missense_Mutation_p.F75I|CNTN4_ENST00000418658.1_Missense_Mutation_p.F75I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	75	Ig-like C2-type 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)		TGGTATGGATTTCCGCTACAG	0.388000													62	31					0	0	0.014410	0	0
TLE2	7089	broad.mit.edu	37	19	3006639	3006639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:3006639C>T	ENST00000262953.6	-	15	1541	c.1279G>A	c.(1279-1281)Ggg>Agg	p.G427R	TLE2_ENST00000426948.2_Missense_Mutation_p.G441R|TLE2_ENST00000591529.1_Missense_Mutation_p.G441R|TLE2_ENST00000455444.2_Missense_Mutation_p.G305R|TLE2_ENST00000590536.1_Missense_Mutation_p.G428R|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Missense_Mutation_p.G94R|TLE2_ENST00000443826.3_Missense_Mutation_p.G305R	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	427					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		TGCATCTGCCCGTCCGCAGAC	0.716000													10	14					0	0	0.008291	0	0
ZRANB3	84083	broad.mit.edu	37	2	136026661	136026661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:136026661C>T	ENST00000401392.1	-	11	1469	c.1257G>A	c.(1255-1257)tgG>tgA	p.W419*	ZRANB3_ENST00000536680.1_Nonsense_Mutation_p.W419*|ZRANB3_ENST00000264159.6_Nonsense_Mutation_p.W419*			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	419	Helicase C-terminal.					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTCCAGGGTCCCAGTACAACT	0.383000													15	37					0	0	0.004990	0	0
PYGO1	26108	broad.mit.edu	37	15	55838819	55838819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:55838819G>A	ENST00000302000.6	-	3	756	c.662C>T	c.(661-663)tCt>tTt	p.S221F	PYGO1_ENST00000563719.1_Missense_Mutation_p.S221F	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	221	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		AGGAATAAAAGAATGATTAGA	0.383000													12	29					0	0	0.001855	0	0
DCN	1634	broad.mit.edu	37	12	91572301	91572301	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:91572301A>G	ENST00000551354.1	-	2	233	c.29T>C	c.(28-30)cTt>cCt	p.L10P	DCN_ENST00000547568.2_Missense_Mutation_p.L10P|DCN_ENST00000546745.1_Missense_Mutation_p.L10P|DCN_ENST00000420120.2_Missense_Mutation_p.L10P|DCN_ENST00000552962.1_Missense_Mutation_p.L10P|DCN_ENST00000228329.5_Missense_Mutation_p.L10P|DCN_ENST00000425043.1_Missense_Mutation_p.L10P|DCN_ENST00000393155.1_Missense_Mutation_p.L10P|DCN_ENST00000546370.1_Missense_Mutation_p.L10P|DCN_ENST00000441303.2_Missense_Mutation_p.L10P|DCN_ENST00000456569.2_Missense_Mutation_p.L10P|DCN_ENST00000052754.5_Missense_Mutation_p.L10P|DCN_ENST00000303320.3_Missense_Mutation_p.L10P|DCN_ENST00000550099.1_Missense_Mutation_p.L10P			P07585	PGS2_HUMAN	decorin	10					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AACTTGTGCAAGCAGAAGGAG	0.443000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	3					0	0	0.006122	0	0
CCDC15	80071	broad.mit.edu	37	11	124857469	124857469	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124857469C>T	ENST00000529051.1	+	8	1606	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	CCDC15_ENST00000344762.5_Silent_p.F449F			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	449						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACCAGGACTTCCTACCCAGAG	0.408000													23	26					0	0	0.002780	0	0
IMPG1	3617	broad.mit.edu	37	6	76751689	76751689	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:76751689G>A	ENST00000369950.3	-	2	411	c.222C>T	c.(220-222)ttC>ttT	p.F74F	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	74					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCCCCGTTGGGAAAAATGCGG	0.368000													33	23					0	0	0.004289	0	0
DNAH5	1767	broad.mit.edu	37	5	13716770	13716770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:13716770C>T	ENST00000265104.4	-	74	12839	c.12735G>A	c.(12733-12735)atG>atA	p.M4245I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4245					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)					TCTCTCCTATCATGTAGCGGA	0.403000									Kartagener syndrome				15	24					0	0	0.007413	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3391288	3391288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:3391288C>T	ENST00000378378.4	+	9	1727	c.1322C>T	c.(1321-1323)aCc>aTc	p.T441I	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.T145I|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.T153I|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.T153I	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	441	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TGCCTCAAGACCCAGGGCCAC	0.627000													6	35					0	0	0.004482	0	0
S100A12	6283	broad.mit.edu	37	1	153346398	153346398	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:153346398C>A	ENST00000368737.3	-	3	301	c.184G>T	c.(184-186)Gat>Tat	p.D62Y		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	62	EF-hand 2.				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	TGATTAGCATCCAGGCCTTGG	0.438000													30	16					1.39806e-14	1.87174e-14	0.008361	1	0
ARHGAP44	9912	broad.mit.edu	37	17	12862145	12862145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:12862145C>T	ENST00000379672.5	+	16	1754	c.1454C>T	c.(1453-1455)cCc>cTc	p.P485L	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.P485L|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.P485L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	485					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CGGCGCCAGCCCGAGCAGGCC	0.547000													6	2					0	0	0.001168	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73207295	73207295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:73207295G>A	ENST00000545377.1	+	35	5019	c.4843G>A	c.(4843-4845)Gac>Aac	p.D1615N	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.D1571N|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.D535N|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.D1615N|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.D1615N|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.D1615N|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.D1615N|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.D1302N	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		CCTCAAGGTGGACCCTTCTCA	0.468000													9	18					0	0	0.006214	0	0
ROBO1	6091	broad.mit.edu	37	3	78656094	78656094	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:78656094G>A	ENST00000436010.2	-	27	5413	c.4416C>T	c.(4414-4416)ctC>ctT	p.L1472L	ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000467549.1_Silent_p.L1411L|ROBO1_ENST00000464233.1_Silent_p.L1511L|ROBO1_ENST00000495273.1_Silent_p.L1466L			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1511					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCATAGAAGGGAGTTTTGGCA	0.488000													59	30					0	0	0.014410	0	0
ACSM5	54988	broad.mit.edu	37	16	20430623	20430623	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20430623C>T	ENST00000331849.4	+	4	636	c.489C>T	c.(487-489)gcC>gcT	p.A163A	ACSM5_ENST00000575584.1_Silent_p.A163A	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	163					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CGTCCAGGGCCAAGTCCATTA	0.567000													21	23					0	0	0.008871	0	0
KCNK9	51305	broad.mit.edu	37	8	140631244	140631244	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:140631244G>A	ENST00000520439.1	-	2	445	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	KCNK9_ENST00000303015.1_Silent_p.L128L			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	128						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGCTCGCCCAGGCTCTGGAAC	0.587000													14	5					0	0	0.001855	0	0
MARK4	57787	broad.mit.edu	37	19	45766591	45766591	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:45766591C>T	ENST00000300843.4	+	4	618	c.321C>T	c.(319-321)gtC>gtT	p.V107V	MARK4_ENST00000262891.4_Silent_p.V107V	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	107	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCGAGAAGTCCGCATCATGA	0.622000													28	33					0	0	0.008361	0	0
C20orf96	140680	broad.mit.edu	37	20	257922	257922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:257922G>A	ENST00000360321.2	-	7	806	c.668C>T	c.(667-669)tCt>tTt	p.S223F	C20orf96_ENST00000400269.3_Missense_Mutation_p.S165F|C20orf96_ENST00000382369.5_Missense_Mutation_p.S188F	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	223										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GATCTGGACAGACTTGATGGA	0.557000													86	90					0	0	0.014410	0	0
GRID1	2894	broad.mit.edu	37	10	87628830	87628830	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:87628830C>T	ENST00000327946.7	-	6	973	c.888G>A	c.(886-888)agG>agA	p.R296R		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	296						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGTGGTTGTTCCTCGTGCATT	0.582000										Multiple Myeloma(13;0.14)			29	37					0	0	0.008361	0	0
CHST8	64377	broad.mit.edu	37	19	34180174	34180174	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:34180174C>T	ENST00000262622.3	+	2	765	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	CHST8_ENST00000434302.1_Silent_p.L3L|CHST8_ENST00000438847.2_Silent_p.L3L|CHST8_ENST00000604556.1_Silent_p.L3L	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	3					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCGGATGACCCTGCGACCTGG	0.632000													35	31					0	0	0.005524	0	0
TNR	7143	broad.mit.edu	37	1	175335095	175335095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:175335095C>T	ENST00000367674.1	-	11	2941	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K	TNR_ENST00000263525.2_Missense_Mutation_p.E745K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	745	Fibronectin type-III 5.				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)					GCCCCAGGCTCTAGATCTGTT	0.537000													52	14					0	0	0.014410	0	0
STAP1	26228	broad.mit.edu	37	4	68447023	68447023	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:68447023C>T	ENST00000265404.2	+	5	446	c.363_splice	c.e5-1	p.L122_splice	STAP1_ENST00000396225.1_Splice_Site_p.L122_splice	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	122					cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TTGGTTTCAGCTGTCAGTTCC	0.423000													24	19					0	0	0.006320	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675985	7675985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:7675985C>T	ENST00000446248.2	+	11	1236	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P352S	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	352					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GTACAGTTCTCCTGTCTTCAC	0.642000													37	41					0	0	0.006999	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100560137	100560137	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:100560137G>A	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						CTGCAGCGGAGACAGCTGCTC	0.547000													4	3					0	0	0.009096	0	0
DMRT3	58524	broad.mit.edu	37	9	990186	990186	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:990186G>A	ENST00000190165.2	+	2	638	c.600G>A	c.(598-600)gtG>gtA	p.V200V		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	200					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TAGTGTCCGTGGAGGAAGGGG	0.577000													5	27					0	0	0.000602	0	0
DAB2IP	153090	broad.mit.edu	37	9	124528840	124528840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:124528840C>T	ENST00000408936.3	+	9	1710	c.1528C>T	c.(1528-1530)Ccg>Tcg	p.P510S	DAB2IP_ENST00000309989.1_Missense_Mutation_p.P386S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.P482S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	510	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCGCGGCCGCCCGGACATCAG	0.617000													14	12					0	0	0.002450	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288863	7288863	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:7288863C>T	ENST00000537408.1	+	5	1378	c.840C>T	c.(838-840)atC>atT	p.I280I	CLSTN3_ENST00000266546.6_Silent_p.I268I			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	268					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TCCCTGGTATCCGCCTGGAGA	0.552000													12	31					0	0	0.002450	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359506	70359506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:70359506G>A	ENST00000305107.6	-	2	821	c.775C>T	c.(775-777)Cga>Tga	p.R259*	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.R259*|UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.R123*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	259					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGTAGTTTCGAATAAGCCAT	0.413000													4	18					0	0	0.009096	0	0
FBLN2	2199	broad.mit.edu	37	3	13655622	13655622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:13655622G>A	ENST00000404922.3	+	5	1806	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	FBLN2_ENST00000492059.1_Missense_Mutation_p.E563K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E589K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E563K	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	563						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATAGTACCTGAGGTTCGCCG	0.607000													14	7					0	0	0.004990	0	0
MLC1	23209	broad.mit.edu	37	22	50502618	50502618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:50502618C>T	ENST00000311597.5	-	11	1510	c.904G>A	c.(904-906)Gat>Aat	p.D302N	MLC1_ENST00000450140.2_Missense_Mutation_p.D250N|MLC1_ENST00000431262.2_Missense_Mutation_p.D272N|MLC1_ENST00000538737.1_Missense_Mutation_p.D268N|MLC1_ENST00000535444.1_Missense_Mutation_p.D223N|MLC1_ENST00000395876.2_Missense_Mutation_p.D302N|MLC1_ENST00000483836.1_5'UTR	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	302						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		agcagcaCATCGTAGGATGGC	0.647000													8	12					0	0	0.003080	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419328	105419328	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:105419328G>A	ENST00000333244.5	-	7	2579	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	820						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCGGCCAGGGACAGGTCCC	0.602000													98	262					0	0	0.014410	0	0
JUP	3728	broad.mit.edu	37	17	39921256	39921256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:39921256C>T	ENST00000393931.3	-	6	1091	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.E325K|JUP_ENST00000310706.5_Missense_Mutation_p.E325K	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	325					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AGCAGCTTTTCATAACTGTAG	0.542000													32	29					0	0	0.009535	0	0
TIE1	7075	broad.mit.edu	37	1	43772943	43772943	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:43772943G>A	ENST00000372476.3	+	5	850	c.772_splice	c.e5+1	p.Q257_splice	TIE1_ENST00000538015.1_Splice_Site_p.Q257_splice|TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Splice_Site_p.Q257_splice	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	257					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCTGTGAACAGGGTAAGGAGG	0.607000													32	14					0	0	0.003755	0	0
DSP	1832	broad.mit.edu	37	6	7567682	7567682	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:7567682G>A	ENST00000379802.3	+	9	1481	c.1140_splice	c.e9+1	p.Q380_splice	DSP_ENST00000418664.2_Splice_Site_p.Q380_splice	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	380	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCTACTTTCAGGTTTTTATAT	0.343000													12	42					0	0	0.003163	0	0
DCLK2	166614	broad.mit.edu	37	4	151114356	151114356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:151114356C>T	ENST00000296550.7	+	3	1577	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	DCLK2_ENST00000507694.1_3'UTR|DCLK2_ENST00000506325.1_Missense_Mutation_p.R275C|DCLK2_ENST00000302176.8_Missense_Mutation_p.R275C	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	275	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AGAAAAATTTCGTTATGCCCA	0.368000													42	112					0	0	0.013114	0	0
CRNKL1	51340	broad.mit.edu	37	20	20026060	20026060	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:20026060A>G	ENST00000377340.2	-	7	1207	c.1176T>C	c.(1174-1176)ttT>ttC	p.F392F	CRNKL1_ENST00000536226.1_Silent_p.F231F|CRNKL1_ENST00000377327.4_Silent_p.F380F	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	392					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GTGCATGGGCAAAATAAGCAT	0.428000													53	64					0	0	0.014410	0	0
SMARCC2	6601	broad.mit.edu	37	12	56563639	56563639	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:56563639C>T	ENST00000394023.3	-	24	2574	c.2469G>A	c.(2467-2469)gaG>gaA	p.E823E	SMARCC2_ENST00000267064.4_Silent_p.E792E|SMARCC2_ENST00000550164.1_Silent_p.E823E|SMARCC2_ENST00000347471.4_Silent_p.E823E|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	792	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTTGGGAGCCTCGCTGGTTT	0.512000													42	29					0	0	0.010771	0	0
EGFL8	80864	broad.mit.edu	37	6	32135002	32135002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32135002C>T	ENST00000395512.1	+	6	674	c.569C>T	c.(568-570)cCc>cTc	p.P190L	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.P190L			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	190						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TCCCCAGAGCCCCCAACCAGT	0.667000													117	79					0	0	0.014410	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519910	113519910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:113519910C>T	ENST00000284601.3	-	4	1305	c.1237G>A	c.(1237-1239)Gga>Aga	p.G413R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	413					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGATTTCTCCCATATTTGAA	0.403000													6	14					0	0	0.001168	0	0
TENM3	55714	broad.mit.edu	37	4	183696110	183696110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:183696110C>T	ENST00000511685.1	+	24	5231	c.5108C>T	c.(5107-5109)tCc>tTc	p.S1703F	TENM3_ENST00000406950.2_Missense_Mutation_p.S1703F					teneurin transmembrane protein 3																		TATGACGGCTCCCTCAGAATT	0.458000													16	25					0	0	0.004990	0	0
SZT2	23334	broad.mit.edu	37	1	43881772	43881772	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:43881772G>A	ENST00000562955.1	+	6	772	c.772_splice	c.e6+1	p.G258_splice		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	258						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCTAGTGCAGGTCAGTAGAA	0.537000													14	5					0	0	0.003163	0	0
OR7D2	162998	broad.mit.edu	37	19	9296579	9296579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9296579G>A	ENST00000344248.2	+	1	301	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	41					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ACGGTGCTGGGAAACCTGCTC	0.517000													15	16					0	0	0.007413	0	0
CCDC149	91050	broad.mit.edu	37	4	24836586	24836586	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:24836586G>A	ENST00000504487.1	-	8	810	c.804C>T	c.(802-804)gtC>gtT	p.V268V	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000389609.4_Silent_p.V268V|CCDC149_ENST00000502801.1_Intron	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	268										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TTGCAGACAGGACTCCTGTCA	0.507000													53	33					0	0	0.014410	0	0
DEFA4	1669	broad.mit.edu	37	8	6793615	6793615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:6793615C>T	ENST00000297435.2	-	3	345	c.221G>A	c.(220-222)cGa>cAa	p.R74Q		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	74			R -> Q (in a colorectal cancer sample; somatic mutation).		defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.R74Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AAGTTCTGTTCGCCGGCAGAA	0.507000													9	3					0	0	0.004482	0	0
SNRNP200	23020	broad.mit.edu	37	2	96964025	96964025	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:96964025G>A	ENST00000323853.5	-	9	1193	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	SNRNP200_ENST00000349783.5_Silent_p.I372I	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	372						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCCTTACTCGGATCAGATCCT	0.438000													98	76					0	0	0.014410	0	0
NDE1	54820	broad.mit.edu	37	16	15758664	15758664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:15758664C>T	ENST00000396355.1	+	3	855	c.29C>T	c.(28-30)tCc>tTc	p.S10F	NDE1_ENST00000396354.1_Missense_Mutation_p.S10F|NDE1_ENST00000342673.5_Missense_Mutation_p.S10F|NDE1_ENST00000396353.2_Missense_Mutation_p.S10F	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	10	Self-association (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACTTTCAGCTCCGAGGAGGAA	0.438000													56	90					0	0	0.014410	0	0
EFNA2	1943	broad.mit.edu	37	19	1299911	1299911	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:1299911C>T	ENST00000215368.2	+	4	624	c.609C>T	c.(607-609)acC>acT	p.T203T	MUM1_ENST00000344663.3_Intron	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN	ephrin-A2	203					cell-cell signaling	anchored to membrane|plasma membrane	ephrin receptor binding			lung(2)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TCCTCAGCACCATCCCCGTGC	0.692000													7	10					0	0	0.003080	0	0
CUL7	9820	broad.mit.edu	37	6	43016083	43016083	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:43016083G>A	ENST00000535468.1	-	8	2388	c.2302C>T	c.(2302-2304)Ctg>Ttg	p.L768L	CUL7_ENST00000265348.3_Silent_p.L684L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	684					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGCACAGTCAGGTGCAGGGTC	0.602000													98	90					0	0	0.014410	0	0
MICAL2	9645	broad.mit.edu	37	11	12278353	12278353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:12278353C>T	ENST00000256194.4	+	24	3265	c.2977C>T	c.(2977-2979)Ccc>Tcc	p.P993S	MICAL2_ENST00000537344.1_Missense_Mutation_p.P803S|MICAL2_ENST00000379612.3_Missense_Mutation_p.P767S|MICAL2_ENST00000342902.5_Missense_Mutation_p.P972S|MICAL2_ENST00000527546.1_Missense_Mutation_p.P803S	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	993						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAAGTCATTTCCCCTTAACCT	0.522000													6	18					0	0	0.003080	0	0
SATL1	340562	broad.mit.edu	37	X	84363471	84363471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:84363471C>T	ENST00000509231.1	-	1	583	c.504G>A	c.(502-504)atG>atA	p.M168I	SATL1_ENST00000332921.5_5'UTR|SATL1_ENST00000395409.3_5'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	224	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGGTTGGCTCATGCCTATTT	0.552000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	2					0	0	0.004289	0	0
IVL	3713	broad.mit.edu	37	1	152883656	152883656	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:152883656G>A	ENST00000368764.3	+	2	1447	c.1383G>A	c.(1381-1383)aaG>aaA	p.K461K	IVL_ENST00000392667.2_Silent_p.K315K			P07476	INVO_HUMAN	involucrin	461	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCAGCCAAAGAACCTGGAGC	0.622000													3	0					0	0	0.004672	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255968	140255968	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140255968T>A	ENST00000398631.2	+	1	911	c.911T>A	c.(910-912)aTt>aAt	p.I304N	PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATTAGAATTTATGGTGAA	0.378000													69	71					0	0	0.014410	0	0
FCRL5	83416	broad.mit.edu	37	1	157494030	157494030	+	Nonstop_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:157494030A>T	ENST00000368190.3	-	10	2370	c.2278T>A	c.(2278-2280)Tga>Aga	p.*760R	FCRL5_ENST00000368191.3_Nonstop_Mutation_p.*675R|FCRL5_ENST00000361835.3_Intron|FCRL5_ENST00000356953.4_Intron			Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	0	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGCACAGTCAGTTCTCAGAT	0.577000													18	3					0	0	0.006122	0	0
ACOT12	134526	broad.mit.edu	37	5	80628365	80628365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:80628365G>A	ENST00000307624.3	-	13	1350	c.1322C>T	c.(1321-1323)cCt>cTt	p.P441L	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	441	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ATTCAGTATAGGACAGGTGAT	0.413000													22	24					0	0	0.012319	0	0
HSPG2	3339	broad.mit.edu	37	1	22156492	22156492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:22156492C>T	ENST00000374695.3	-	86	11843	c.11764G>A	c.(11764-11766)Gag>Aag	p.E3922K	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3922	EGF-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCACCTTCCTCACACCGCAAC	0.697000													10	6					0	0	0.010729	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417780	25417780	+	RNA	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:25417780T>C	ENST00000549301.1	+	0	503				SNHG14_ENST00000553149.1_RNA																							TTTCCCCGGGTTGGGTCGATG	0.522000													47	56					0	0	0.014410	0	0
FBLIM1	54751	broad.mit.edu	37	1	16101188	16101188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:16101188C>T	ENST00000375766.3	+	7	1427	c.787C>T	c.(787-789)Cac>Tac	p.H263Y	FBLIM1_ENST00000332305.5_Missense_Mutation_p.H166Y|FBLIM1_ENST00000441801.2_Missense_Mutation_p.H263Y|FBLIM1_ENST00000400773.1_Missense_Mutation_p.H166Y|FBLIM1_ENST00000375771.1_Missense_Mutation_p.H263Y	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	263	LIM zinc-binding 2.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCAGGCCTTCCACCCCTCCTG	0.632000													23	86					0	0	0.005443	0	0
FREM1	158326	broad.mit.edu	37	9	14737436	14737436	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:14737436C>T	ENST00000380881.4	-	38	7316	c.6501G>A	c.(6499-6501)agG>agA	p.R2167R	FREM1_ENST00000380894.1_Silent_p.R702R|FREM1_ENST00000422223.2_Silent_p.R2166R|FREM1_ENST00000380880.3_Silent_p.R2166R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2166	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTTGGCTCTCCTACAGTCTT	0.453000													12	14					0	0	0.003163	0	0
MYL2	4633	broad.mit.edu	37	12	111350910	111350910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:111350910G>A	ENST00000228841.8	-	6	439	c.392C>T	c.(391-393)tCc>tTc	p.S131F	MYL2_ENST00000548438.1_Missense_Mutation_p.S117F	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	131	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CTCCTCCTTGGAAAACCTCTC	0.587000													25	19					0	0	0.007291	0	0
ZNF592	9640	broad.mit.edu	37	15	85327838	85327838	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:85327838C>T	ENST00000299927.3	+	1	1954	c.1932C>T	c.(1930-1932)ctC>ctT	p.L644L	ZNF592_ENST00000560079.2_Silent_p.L644L			Q92610	ZN592_HUMAN	zinc finger protein 592	644					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCAAGGGGCTCGTCATGCAGT	0.597000													38	1					0	0	0.007835	0	0
CDON	50937	broad.mit.edu	37	11	125867233	125867233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:125867233C>T	ENST00000392693.3	-	12	2358	c.2231G>A	c.(2230-2232)cGg>cAg	p.R744Q	CDON_ENST00000263577.7_Missense_Mutation_p.R744Q|CDON_ENST00000531738.1_Missense_Mutation_p.R121Q	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	744	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCCGTTTGCCCGAGGAATCCA	0.488000													6	8					0	0	0.001168	0	0
SYNE2	23224	broad.mit.edu	37	14	64460553	64460553	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:64460553G>A	ENST00000358025.3	+	22	2877	c.2646_splice	c.e22-1	p.E883_splice	SYNE2_ENST00000344113.4_Splice_Site_p.E883_splice|SYNE2_ENST00000554584.1_Splice_Site_p.E883_splice|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	883					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			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)		TTTTTTTTAGGAAGCACTAAT	0.294000													6	1					0	0	0.001984	0	0
SNHG14	104472715	broad.mit.edu	37	15	25315647	25315647	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:25315647C>T	ENST00000549804.2	+	0	678				SNORD116-8_ENST00000384365.1_RNA|SNHG14_ENST00000551077.1_RNA																							AGAACTCATACCGTCGTTCTC	0.478000													24	43					0	0	0.009535	0	0
SPATA32	124783	broad.mit.edu	37	17	43333350	43333350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:43333350C>T	ENST00000543122.1	-	6	917	c.136G>A	c.(136-138)Gga>Aga	p.G46R	MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.G67R|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA					spermatogenesis associated 32																		GGCACCTGTCCGATCTCCAGT	0.562000													10	14					0	0	0.010729	0	0
UNC119B	84747	broad.mit.edu	37	12	121154737	121154737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:121154737C>T	ENST00000344651.4	+	4	575	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	179										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCACTATTTCCGGGAACACTT	0.458000													238	136					0	0	0.014410	0	0
AP1M1	8907	broad.mit.edu	37	19	16345234	16345234	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:16345234C>T	ENST00000291439.3	+	12	1709	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	AP1M1_ENST00000541844.1_Silent_p.L348L|AP1M1_ENST00000429941.2_Silent_p.L367L|AP1M1_ENST00000590756.1_Silent_p.L348L|AP1M1_ENST00000444449.2_Silent_p.L432L	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	420	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						ATTACCAGCTCCGGACCCAGT	0.687000													14	23					0	0	0.004007	0	0
OR6C2	341416	broad.mit.edu	37	12	55846490	55846490	+	Missense_Mutation	SNP	G	G	A	rs140332483		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:55846490G>A	ENST00000322678.1	+	1	493	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E165K(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTCCAGCTCGAATTCTGTGA	0.448000													6	23					0	0	0.001984	0	0
KIF26A	26153	broad.mit.edu	37	14	104642788	104642788	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:104642788C>T	ENST00000315264.7	+	11	3624	c.3246C>T	c.(3244-3246)acC>acT	p.T1082T	KIF26A_ENST00000423312.2_Silent_p.T1221T			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1221					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGCCACCACCCGTGTGGGCT	0.711000													14	10					0	0	0.001855	0	0
CHKA	1119	broad.mit.edu	37	11	67832066	67832066	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:67832066G>A	ENST00000265689.4	-	10	1184	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	CHKA_ENST00000356135.5_Silent_p.F368F	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	386					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity	p.F386L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	AGTCATTTTGGAATGCAGGCA	0.294000													15	17					0	0	0.004990	0	0
GOLGA4	2803	broad.mit.edu	37	3	37367218	37367218	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:37367218T>C	ENST00000361924.2	+	14	4215	c.3841T>C	c.(3841-3843)Ttg>Ctg	p.L1281L	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.L1303L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1281	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACTTAGACAGTTGACAGAGGA	0.343000													9	21					0	0	0.008291	0	0
NSMCE1	197370	broad.mit.edu	37	16	27244394	27244394	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:27244394T>C	ENST00000361439.4	-	5	510	c.411A>G	c.(409-411)aaA>aaG	p.K137K		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	137					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						TCTTCTTGCCTTTAAGTTGAT	0.453000													44	46					0	0	0.013114	0	0
ZNF444	55311	broad.mit.edu	37	19	56671149	56671149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56671149C>T	ENST00000337080.3	+	5	930	c.563C>T	c.(562-564)tCc>tTc	p.S188F	ZNF444_ENST00000592171.1_3'UTR|ZNF444_ENST00000592949.1_Missense_Mutation_p.S187F	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	188					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GGCAAAACGTCCCTGAAACCA	0.716000													3	3					0	0	0.004672	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952910	16952910	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:16952910G>A	ENST00000412962.1	-	0	706																											AGGGCGCTCAGCTTGGACAGG	0.642000													6	69					0	0	0.003080	0	0
JADE1	79960	broad.mit.edu	37	4	129764143	129764143	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:129764143C>T	ENST00000226319.6	+	3	368	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	PHF17_ENST00000512960.1_Nonsense_Mutation_p.Q30*|PHF17_ENST00000413543.2_Nonsense_Mutation_p.Q30*|PHF17_ENST00000452328.2_Nonsense_Mutation_p.Q30*|PHF17_ENST00000511647.1_Nonsense_Mutation_p.Q30*	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		30					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TTCCCGATCCCAGCATAGGAG	0.453000													31	66					0	0	0.006230	0	0
CSDE1	7812	broad.mit.edu	37	1	115273131	115273131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:115273131G>A	ENST00000438362.2	-	11	1705	c.1327C>T	c.(1327-1329)Cct>Tct	p.P443S	CSDE1_ENST00000530886.1_Missense_Mutation_p.P267S|CSDE1_ENST00000534699.1_Missense_Mutation_p.P397S|CSDE1_ENST00000369530.1_Missense_Mutation_p.P412S|CSDE1_ENST00000358528.4_Missense_Mutation_p.P397S|CSDE1_ENST00000339438.6_Missense_Mutation_p.P366S|CSDE1_ENST00000261443.5_Missense_Mutation_p.P366S	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	397					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		CAACTCACAGGAACCACAGTA	0.378000													4	13					0	0	0.009096	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533712	31533712	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:31533712A>G	ENST00000215885.3	-	4	1302	c.1050T>C	c.(1048-1050)ggT>ggC	p.G350G		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	350					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GTTTTAGGCCACCCTGTGGGC	0.612000													73	71					0	0	0.014410	0	0
TPM3	7170	broad.mit.edu	37	1	154163752	154163752	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:154163752C>T	ENST00000368530.2	-	2	345	c.153G>A	c.(151-153)ctG>ctA	p.L51L	TPM3_ENST00000271850.7_Silent_p.L51L	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	50					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTGTCCCTTTCAGCTTCTTCT	0.502000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								12	55					0	0	0.001855	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701581	56701581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56701581G>A	ENST00000586855.2	-	5	1416	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.S368F			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	368					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCTTAGCTGGGAAAAATACTT	0.552000													23	22					0	0	0.014323	0	0
DNAJA1	3301	broad.mit.edu	37	9	33038721	33038721	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:33038721A>G	ENST00000330899.4	+	9	1197	c.1014A>G	c.(1012-1014)aaA>aaG	p.K338K	DNAJA1_ENST00000544625.1_Silent_p.K181K|DNAJA1_ENST00000495015.1_3'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	338					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	p.K338K(1)		large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		CTCCTGATAAACTGTCTTTGC	0.413000													16	13					0	0	0.006122	0	0
ZNF782	158431	broad.mit.edu	37	9	99581682	99581682	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:99581682A>G	ENST00000481138.1	-	6	1284	c.623T>C	c.(622-624)aTt>aCt	p.I208T	ZNF782_ENST00000535338.1_Missense_Mutation_p.I76T	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CAGAGTCTGAATTGTCTGATG	0.363000													10	26					0	0	0.010729	0	0
OR4K2	390431	broad.mit.edu	37	14	20345076	20345076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:20345076C>T	ENST00000298642.2	+	1	686	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTATTTAATTCATATGTTATT	0.383000													53	59					0	0	0.014410	0	0
DSCAM	1826	broad.mit.edu	37	21	41668001	41668001	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:41668001G>A	ENST00000400454.1	-	10	2640	c.2163C>T	c.(2161-2163)atC>atT	p.I721I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	721	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)				ATTTCCACACGATGGTAGGTA	0.428000													15	18					0	0	0.003163	0	0
OR8S1	341568	broad.mit.edu	37	12	48919933	48919933	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:48919933C>T	ENST00000310194.1	+	1	519	c.519C>T	c.(517-519)atC>atT	p.I173I	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	173					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						AAGCCAAAATCATTCACCACT	0.507000													11	47					0	0	0.010729	0	0
MASP2	10747	broad.mit.edu	37	1	11106723	11106723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:11106723G>A	ENST00000400897.3	-	3	317	c.302C>T	c.(301-303)cCt>cTt	p.P101L	MASP2_ENST00000400898.3_Missense_Mutation_p.P101L	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	101	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GTCCTTGCCAGGGGCCCGCTC	0.632000													6	25					0	0	0.001168	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128958033	128958033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:128958033G>A	ENST00000274487.4	+	10	1889	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	582	Disintegrin.		E -> G (in dbSNP:rs10062501).		proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTTTTGTCAGGAGATGCAGGT	0.428000													12	19					0	0	0.013537	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2808603	2808603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:2808603G>A	ENST00000254695.8	+	3	196	c.106G>A	c.(106-108)Gat>Aat	p.D36N	RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.D36N|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.D36N|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.D17N	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	36					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CAACAGCTCGGATGCGACCCT	0.617000													21	9					0	0	0.005443	0	0
CCDC141	285025	broad.mit.edu	37	2	179736979	179736979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179736979C>T	ENST00000420890.2	-	13	2077	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E79K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	79							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCTGGTTTTCCATGGTGTTC	0.423000													18	18					0	0	0.012319	0	0
SNX15	29907	broad.mit.edu	37	11	64800007	64800007	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:64800007C>T	ENST00000377244.3	+	3	370	c.240C>T	c.(238-240)ccC>ccT	p.P80P	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	80	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CTGCTTTCCCCCGGGCCCAGG	0.622000													16	28					0	0	0.006122	0	0
FLT1	2321	broad.mit.edu	37	13	28877373	28877373	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:28877373C>T	ENST00000282397.4	-	30	4199	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R	FLT1_ENST00000540678.1_Silent_p.R534R|FLT1_ENST00000543394.1_Silent_p.R339R	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1316					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACGCGATTTTCCTTTCCAGCT	0.572000													37	36					0	0	0.006999	0	0
NME6	10201	broad.mit.edu	37	3	48336567	48336567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:48336567G>A	ENST00000421967.1	-	5	461	c.416C>T	c.(415-417)tCg>tTg	p.S139L	NME6_ENST00000450160.1_Missense_Mutation_p.R118W|NME6_ENST00000426723.1_Intron|NME6_ENST00000447314.1_Missense_Mutation_p.S86L|NME6_ENST00000415053.1_Missense_Mutation_p.S131L|NME6_ENST00000426689.2_Missense_Mutation_p.S131L|NME6_ENST00000442597.1_Missense_Mutation_p.S131L|NME6_ENST00000451657.1_Missense_Mutation_p.R118W|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000435684.1_Missense_Mutation_p.R118W|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000452211.1_Missense_Mutation_p.S131L|NME6_ENST00000415644.1_Intron	NM_005793.3	NP_005784.1	O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	131					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GGACTCACCCGAACCATGGGT	0.577000													21	44					0	0	0.003330	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20893254	20893254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:20893254C>T	ENST00000381552.1	+	12	2053	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S444F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S562F|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S562F|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S513F			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	562					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GTCATCACATCCTATACTTTA	0.388000													12	65					0	0	0.004007	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431773	140431773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140431773C>T	ENST00000306549.3	+	1	795	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		240	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGACCACGTGCCCCAGTTCTC	0.597000													13	10					0	0	0.001855	0	0
IFIT1	3434	broad.mit.edu	37	10	91162363	91162363	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:91162363C>T	ENST00000546318.1	+	2	1525	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Silent_p.L111L	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	111					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CATGGGCAGACTGGCAGAAGC	0.468000													19	18					0	0	0.007413	0	0
SLC26A8	116369	broad.mit.edu	37	6	35911718	35911718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:35911718C>T	ENST00000490799.1	-	20	3225	c.2872G>A	c.(2872-2874)Gat>Aat	p.D958N	SLC26A8_ENST00000394602.2_Missense_Mutation_p.D853N|SLC26A8_ENST00000355574.2_Missense_Mutation_p.D958N	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	958	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GAGTATGAATCCATAGGATGG	0.493000													55	69					0	0	0.014410	0	0
C7	730	broad.mit.edu	37	5	40972595	40972595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:40972595C>T	ENST00000313164.9	+	15	2332	c.1973C>T	c.(1972-1974)tCc>tTc	p.S658F		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	658	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTGACTGTTTCCTGTTCAGGT	0.458000													33	37					0	0	0.012213	0	0
RNMTL1	55178	broad.mit.edu	37	17	695284	695284	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:695284T>A	ENST00000304478.4	+	4	1344	c.1238T>A	c.(1237-1239)tTg>tAg	p.L413*		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	413					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		GCGGAGGACTTGAGCAGGGAC	0.607000													12	28					0	0	0.013537	0	0
WWC1	23286	broad.mit.edu	37	5	167882523	167882523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:167882523C>T	ENST00000265293.4	+	19	3323	c.2821C>T	c.(2821-2823)Cgg>Tgg	p.R941W	WWC1_ENST00000521089.1_Missense_Mutation_p.R941W|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	941	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GTACGTGTGCCGGGTAAGTGA	0.607000													27	29					0	0	0.009535	0	0
EXOC7	23265	broad.mit.edu	37	17	74079831	74079831	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:74079831C>T	ENST00000607838.1	-	20	2116	c.2021_splice	c.e20-1	p.K674_splice	EXOC7_ENST00000332065.5_Splice_Site_p.K620_splice|EXOC7_ENST00000335146.7_Splice_Site_p.K702_splice|EXOC7_ENST00000589210.1_Splice_Site_p.K651_splice|EXOC7_ENST00000405575.4_Splice_Site_p.K660_splice|EXOC7_ENST00000467929.2_Splice_Site_p.K623_splice|EXOC7_ENST00000411744.2_Splice_Site_p.K643_splice	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	702					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CGCTGCCAAACCTGAGGAGGC	0.617000													11	18					0	0	0.004007	0	0
CIC	23152	broad.mit.edu	37	19	42798196	42798196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:42798196C>T	ENST00000572681.2	+	18	6936	c.6868C>T	c.(6868-6870)Cgg>Tgg	p.R2290W	CIC_ENST00000160740.3_Missense_Mutation_p.R1382W|CIC_ENST00000575354.2_Missense_Mutation_p.R1384W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACCTCACCCCGGGCCATCCT	0.632000			"""Mis, F, S"""		oligodendroglioma								32	35					0	0	0.003271	0	0
HELT	391723	broad.mit.edu	37	4	185940983	185940983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:185940983G>A	ENST00000338875.4	+	3	470	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	HELT_ENST00000505610.1_Missense_Mutation_p.R72Q|HELT_ENST00000515777.1_Missense_Mutation_p.R72Q	NM_001029887.1	NP_001025058.1	A6NFD8	HELT_HUMAN	helt bHLH transcription factor	157							DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GATTTTCCCCGGGGAAGGGAA	0.622000													4	42					0	0	0.000602	0	0
CRNKL1	51340	broad.mit.edu	37	20	20018028	20018028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:20018028C>T	ENST00000377340.2	-	14	2349	c.2318G>A	c.(2317-2319)aGa>aAa	p.R773K	CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R612K|CRNKL1_ENST00000377327.4_Missense_Mutation_p.R761K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	773					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTTGTCTACTCTCTCCTTATC	0.438000													70	63					0	0	0.014410	0	0
CPE	1363	broad.mit.edu	37	4	166405693	166405693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:166405693G>A	ENST00000402744.4	+	5	1190	c.910G>A	c.(910-912)Gat>Aat	p.D304N		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	304					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCGCAAGAATGATGATGACAG	0.517000													103	260					0	0	0.014410	0	0
AHNAK	79026	broad.mit.edu	37	11	62288540	62288540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:62288540G>A	ENST00000378024.4	-	5	13623	c.13349C>T	c.(13348-13350)cCt>cTt	p.P4450L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4450					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTTCATCTCAGGCATCTTAAA	0.438000													37	81					0	0	0.006999	0	0
OR52M1	119772	broad.mit.edu	37	11	4566492	4566492	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:4566492C>T	ENST00000360213.1	+	1	72	c.72C>T	c.(70-72)tcC>tcT	p.S24S		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTGGAGTCCCTACACGTCT	0.532000													25	13					0	0	0.009535	0	0
KCTD17	79734	broad.mit.edu	37	22	37457666	37457666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:37457666C>T	ENST00000403888.3	+	8	894	c.893C>T	c.(892-894)cCc>cTc	p.P298L	KCTD17_ENST00000402077.3_Missense_Mutation_p.P274L			Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	298	Pro-rich.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						AGCTGCCATCCCTGGTTTGTA	0.627000													7	10					0	0	0.001984	0	0
RERE	473	broad.mit.edu	37	1	8418865	8418865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:8418865G>A	ENST00000337907.3	-	21	4364	c.3730C>T	c.(3730-3732)Ccc>Tcc	p.P1244S	RERE_ENST00000377464.1_Missense_Mutation_p.P976S|RERE_ENST00000476556.1_Missense_Mutation_p.P690S|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P1244S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1244					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCGATGTAGGGGGGCACAGCA	0.647000													70	34					0	0	0.014410	0	0
ZMYND15	84225	broad.mit.edu	37	17	4648003	4648003	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4648003G>A	ENST00000433935.1	+	11	1824	c.1767G>A	c.(1765-1767)agG>agA	p.R589R	ZMYND15_ENST00000592813.1_Silent_p.R550R|ZMYND15_ENST00000269289.6_Silent_p.R550R|ZMYND15_ENST00000573751.2_Silent_p.R589R	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	550							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGGGCCGCAGGGACCTGCAGA	0.622000													5	25					0	0	0.001168	0	0
DNAH17	8632	broad.mit.edu	37	17	76533467	76533467	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:76533467G>A	ENST00000389840.5	-	19	2897	c.2773C>T	c.(2773-2775)Ctg>Ttg	p.L925L	DNAH17_ENST00000585328.1_Silent_p.L922L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCAGTGCCAGGAAGCCGCGA	0.597000													7	11					0	0	0.001984	0	0
RCSD1	92241	broad.mit.edu	37	1	167666886	167666886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:167666886G>A	ENST00000367854.3	+	6	1356	c.1025G>A	c.(1024-1026)gGa>gAa	p.G342E	RCSD1_ENST00000537350.1_Missense_Mutation_p.G312E	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	342										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTGGAGGAGGGAGCTGCAGTG	0.557000													12	3					0	0	0.002450	0	0
DMBT1	1755	broad.mit.edu	37	10	124345695	124345695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:124345695G>A	ENST00000338354.3	+	16	1685	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.D517N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D517N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D527N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	527	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D527Y(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGACACCAATGATGCCAATGT	0.612000													137	160					0	0	0.014410	0	0
COG7	91949	broad.mit.edu	37	16	23444941	23444941	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:23444941G>A	ENST00000307149.5	-	6	920	c.735C>T	c.(733-735)tcC>tcT	p.S245S		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	245					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GCCGGTCCAGGGATAGGTCAC	0.507000													23	14					0	0	0.003330	0	0
OR2T4	127074	broad.mit.edu	37	1	248525164	248525164	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:248525164C>T	ENST00000366475.1	+	1	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACTTTTTCATCAGTCAAT	0.493000													54	136					0	0	0.014410	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147926841	147926841	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:147926841C>T	ENST00000361727.3	+	20	3867	c.3351C>T	c.(3349-3351)atC>atT	p.I1117I	CNTNAP2_ENST00000538075.1_Silent_p.I176I	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1117	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTGTCAACATCACCCGCCACG	0.453000										HNSCC(39;0.1)			9	8					0	0	0.010729	0	0
FASLG	356	broad.mit.edu	37	1	172634825	172634825	+	Missense_Mutation	SNP	C	C	T	rs80358236		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:172634825C>T	ENST00000367721.2	+	4	699	c.515C>T	c.(514-516)tCt>tTt	p.S172F	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	172					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GTCCTGCTTTCTGGAGTGAAG	0.433000													15	43					0	0	0.006122	0	0
DSCAML1	57453	broad.mit.edu	37	11	117392001	117392001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:117392001C>T	ENST00000321322.6	-	6	1238	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E143K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	353	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCACCAGCTCCGTGTTGCGA	0.627000													31	49					0	0	0.009535	0	0
HTR2B	3357	broad.mit.edu	37	2	231973839	231973839	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:231973839T>A	ENST00000258400.3	-	4	1350	c.838A>T	c.(838-840)Aag>Tag	p.K280*	PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	280					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	ATTGCCACCTTTTCCGGTGAC	0.463000													27	71					0	0	0.013726	0	0
OR8D2	283160	broad.mit.edu	37	11	124189815	124189815	+	Silent	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124189815G>T	ENST00000357438.2	-	1	369	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		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;0.0525)		ATTCCAGAAAGGAGATAATGT	0.378000													5	8					2.7689e-08	3.68109e-08	0.001984	1	0
TANGO2	128989	broad.mit.edu	37	22	20024551	20024551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:20024551C>T	ENST00000456048.1	+	1	5	c.5C>T	c.(4-6)cCt>cTt	p.P2L	TANGO2_ENST00000447208.2_Intron|TANGO2_ENST00000434570.2_Missense_Mutation_p.P38L|TANGO2_ENST00000327374.4_Intron|TANGO2_ENST00000401833.1_Missense_Mutation_p.P38L|TANGO2_ENST00000432883.1_Intron|TANGO2_ENST00000420290.2_Intron|TANGO2_ENST00000401886.1_Intron|TANGO2_ENST00000398042.2_Intron|TANGO2_ENST00000479679.1_Intron					transport and golgi organization 2 homolog (Drosophila)																		GTCAGAATGCCTCTCGGGGCG	0.617000													20	24					0	0	0.002780	0	0
CCM2	83605	broad.mit.edu	37	7	45104172	45104172	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:45104172G>A	ENST00000475551.1	+	4	1141	c.381G>A	c.(379-381)agG>agA	p.R127R	CCM2_ENST00000541586.1_Silent_p.R75R|CCM2_ENST00000381112.3_Silent_p.R154R|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000258781.6_Silent_p.R133R|CCM2_ENST00000544363.1_Silent_p.R133R|CCM2_ENST00000474617.1_Silent_p.R127R			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	133	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCATCCTCAGGGTGCCCATCC	0.602000													15	2					0	0	0.003163	0	0
ACVRL1	94	broad.mit.edu	37	12	52309151	52309151	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:52309151C>T	ENST00000550683.1	+	6	1058	c.957C>T	c.(955-957)tcC>tcT	p.S319S	ACVRL1_ENST00000419526.2_Silent_p.S131S|ACVRL1_ENST00000388922.4_Silent_p.S305S	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	305	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TAGCTGTGTCCGCGGCATGCG	0.617000													16	17					0	0	0.007413	0	0
PIGR	5284	broad.mit.edu	37	1	207111048	207111048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:207111048C>T	ENST00000356495.4	-	4	620	c.437G>A	c.(436-438)aGa>aAa	p.R146K		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	146	Ig-like V-type 2.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTCACCGTTCTGCCCAGGTC	0.517000													7	19					0	0	0.003080	0	0
ZNF536	9745	broad.mit.edu	37	19	31039385	31039385	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:31039385T>C	ENST00000355537.3	+	4	3006	c.2859T>C	c.(2857-2859)gaT>gaC	p.D953D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	953					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACGGAGTGGATGGTGGTGAGG	0.547000													57	80					0	0	0.014410	0	0
WBP11	51729	broad.mit.edu	37	12	14941978	14941978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:14941978G>A	ENST00000261167.2	-	11	1632	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	WBP11_ENST00000537574.1_Missense_Mutation_p.P433S	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	467	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGGCCAGGGGGTCGGCCTGGT	0.652000													26	12					0	0	0.005443	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57244101	57244101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:57244101C>T	ENST00000335099.3	+	3	1297	c.980C>T	c.(979-981)tCc>tTc	p.S327F	RP11-624G17.3_ENST00000528885.1_RNA	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	327					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						ggcAACAGCTCCTCCAACCAC	0.771000													4	6					0	0	0.009096	0	0
KIF5C	3800	broad.mit.edu	37	2	149866805	149866805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:149866805C>T	ENST00000435030.1	+	24	3075	c.2707C>T	c.(2707-2709)Cgt>Tgt	p.R903C	KIF5C_ENST00000397413.1_Missense_Mutation_p.R671C|KIF5C_ENST00000414838.2_Missense_Mutation_p.R808C|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	903	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGGTGGATCGTATCAAGGA	0.647000													4	6					0	0	0.001168	0	0
LPAL2	80350	broad.mit.edu	37	6	160908348	160908348	+	RNA	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:160908348T>A	ENST00000335388.5	-	0	624					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CACAGCCCTATTCTTGTCTGA	0.522000													13	7					0	0	0.013537	0	0
PCDH15	65217	broad.mit.edu	37	10	55582826	55582826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:55582826G>A	ENST00000361849.3	-	34	5060	c.4666C>T	c.(4666-4668)Ccc>Tcc	p.P1556S	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1514S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1554S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1531S|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1551S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1485S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1554					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTATTTTGGGTGAAAATGGG	0.423000										HNSCC(58;0.16)			22	34					0	0	0.002780	0	0
CCKAR	886	broad.mit.edu	37	4	26483656	26483656	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:26483656C>T	ENST00000295589.3	-	5	1085	c.891G>A	c.(889-891)cgG>cgA	p.R297R		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	297					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGCTGTTACTCCGGATGCGGT	0.602000													52	25					0	0	0.014410	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161029453	161029453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:161029453C>T	ENST00000368013.3	-	2	471	c.151G>A	c.(151-153)Gat>Aat	p.D51N	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.D51N	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	51	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TAGATCCCATCCACCACTCCA	0.572000													13	73					0	0	0.004990	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171516	150171516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:150171516G>A	ENST00000307271.3	+	4	1673	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	367						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TACCAGGAAAGAAGATTTAGG	0.378000													45	65					0	0	0.014410	0	0
MED13L	23389	broad.mit.edu	37	12	116429709	116429709	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:116429709T>A	ENST00000281928.3	-	17	3256	c.3050A>T	c.(3049-3051)cAg>cTg	p.Q1017L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1017					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGTGTTCATCTGTGGTGTGTT	0.547000													14	5					0	0	0.003163	0	0
COL11A1	1301	broad.mit.edu	37	1	103487308	103487308	+	Silent	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:103487308T>A	ENST00000358392.2	-	9	1616	c.1299A>T	c.(1297-1299)gcA>gcT	p.A433A	COL11A1_ENST00000370096.3_Silent_p.A421A|COL11A1_ENST00000353414.4_Silent_p.A382A|COL11A1_ENST00000512756.1_Silent_p.A305A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	421	Triple-helical region (interrupted).				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)		TCTCTCCATATGCACCATGGC	0.358000													11	50					0	0	0.010729	0	0
KNDC1	85442	broad.mit.edu	37	10	135009173	135009173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:135009173G>A	ENST00000304613.3	+	10	1603	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M	KNDC1_ENST00000368571.2_Missense_Mutation_p.V463M|KNDC1_ENST00000368572.2_Missense_Mutation_p.V528M			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	528	KIND 2.				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)		CCAGGCCTCTGTGTACTGTGT	0.667000													13	8					0	0	0.001855	0	0
WDR6	11180	broad.mit.edu	37	3	49051112	49051112	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49051112G>A	ENST00000395474.3	+	2	2515	c.2235G>A	c.(2233-2235)ctG>ctA	p.L745L	WDR6_ENST00000448293.1_Silent_p.L664L|WDR6_ENST00000415265.2_Silent_p.L163L	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	715					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCATTACCCTGGGGCCTGAAT	0.592000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	21					0	0	0.000602	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848520	92848520	+	Silent	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:92848520A>T	ENST00000394468.2	-	2	401	c.324T>A	c.(322-324)ctT>ctA	p.L108L	HEPACAM2_ENST00000341723.4_Silent_p.L96L|HEPACAM2_ENST00000453812.2_Silent_p.L131L|HEPACAM2_ENST00000440868.1_Silent_p.L96L	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	108						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GTGGGTTGATAAGCAGAGATG	0.458000													12	14					0	0	0.001855	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841699	8841699	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:8841699C>T	ENST00000324060.2	+	1	384	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAATATTCTTCCTCACACTGA	0.532000													26	31					0	0	0.003954	0	0
CSMD3	114788	broad.mit.edu	37	8	113301638	113301638	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:113301638C>G	ENST00000297405.5	-	57	9348	c.9104G>C	c.(9103-9105)tGc>tCc	p.C3035S	CSMD3_ENST00000352409.3_Missense_Mutation_p.C2965S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C2995S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2866S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3035	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTCAATTGGCAGGTTCTTGA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	14					0	0	0.004990	0	0
DAB2IP	153090	broad.mit.edu	37	9	124528841	124528841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:124528841C>T	ENST00000408936.3	+	9	1711	c.1529C>T	c.(1528-1530)cCg>cTg	p.P510L	DAB2IP_ENST00000309989.1_Missense_Mutation_p.P386L|DAB2IP_ENST00000259371.2_Missense_Mutation_p.P482L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	510	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CGCGGCCGCCCGGACATCAGT	0.612000													14	13					0	0	0.002450	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756792	94756792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:94756792C>T	ENST00000554723.1	-	2	677	c.259G>A	c.(259-261)Gag>Aag	p.E87K	SERPINA10_ENST00000261994.4_Missense_Mutation_p.E47K|SERPINA10_ENST00000554173.1_Missense_Mutation_p.E47K|SERPINA10_ENST00000393096.1_Missense_Mutation_p.E47K			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	47					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)		TCCTCTTCCTCCTTGGGAGCC	0.632000													11	4					0	0	0.010729	0	0
APOBR	55911	broad.mit.edu	37	16	28507415	28507415	+	Silent	SNP	G	G	A	rs71657822		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:28507415G>A	ENST00000564831.1	+	2	1086	c.1053G>A	c.(1051-1053)ggG>ggA	p.G351G	APOBR_ENST00000431282.1_Intron|APOBR_ENST00000328423.5_Intron	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	351	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CCTCAGGAGGGGAGGAGGCCG	0.706000													17	11					0	0	0.007413	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43701390	43701390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:43701390G>A	ENST00000395809.1	-	2	2681	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.P59S|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.P67S			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	59	N-terminal Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCCACCGTGGGAACAAGGTGC	0.637000													15	19					0	0	0.006122	0	0
ADCY8	114	broad.mit.edu	37	8	131922025	131922025	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:131922025C>T	ENST00000286355.5	-	6	3661	c.1569G>A	c.(1567-1569)agG>agA	p.R523R	ADCY8_ENST00000377928.3_Silent_p.R523R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	523					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)			ACTGCCACTTCCTTAGTCCCA	0.478000										HNSCC(32;0.087)			40	84					0	0	0.010771	0	0
SAMD12	401474	broad.mit.edu	37	8	119391932	119391932	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:119391932G>A	ENST00000409003.4	-	4	458	c.330C>T	c.(328-330)gcC>gcT	p.A110A	AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000314727.4_Silent_p.A110A	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	110	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GTCTCAGCAGGGCTCGCCCTG	0.488000													10	8					0	0	0.008291	0	0
HEATR1	55127	broad.mit.edu	37	1	236717941	236717941	+	Missense_Mutation	SNP	C	C	T	rs142962546		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:236717941C>T	ENST00000366582.3	-	42	6149	c.6035G>A	c.(6034-6036)aGt>aAt	p.S2012N	HEATR1_ENST00000366581.2_Missense_Mutation_p.S1931N	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2012					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCTCTCTTTACTTATAAAATG	0.408000													48	22					0	0	0.014410	0	0
TRIM71	131405	broad.mit.edu	37	3	32932694	32932694	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:32932694G>A	ENST00000383763.4	+	4	2061	c.1998G>A	c.(1996-1998)agG>agA	p.R666R		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	666					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTCACGCAGGATCGTGGTGG	0.607000													21	12					0	0	0.003330	0	0
PRKG1	5592	broad.mit.edu	37	10	54048561	54048561	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:54048561A>G	ENST00000373980.4	+	15	2202	c.1785A>G	c.(1783-1785)ccA>ccG	p.P595P	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Silent_p.P298P|PRKG1_ENST00000373985.1_Silent_p.P568P|PRKG1_ENST00000401604.2_Silent_p.P580P|PRKG1-AS1_ENST00000426785.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	580	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TAGAATTTCCAAAGAAGATTG	0.343000													6	9					0	0	0.001984	0	0
HSP90B1	7184	broad.mit.edu	37	12	104337627	104337627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:104337627C>T	ENST00000299767.5	+	14	2184	c.2002C>T	c.(2002-2004)Caa>Taa	p.Q668*		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	668					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ACAAGCGTACCAAACGGGCAA	0.517000													4	13					0	0	0.009096	0	0
ANKH	56172	broad.mit.edu	37	5	14716861	14716861	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:14716861T>C	ENST00000284268.6	-	9	1425	c.1095A>G	c.(1093-1095)gaA>gaG	p.E365E	ANKH_ENST00000535119.1_Silent_p.E167E	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	365					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAACACAGAGTTCTGCAAAGG	0.433000													12	13					0	0	0.001855	0	0
GALNT13	114805	broad.mit.edu	37	2	154801077	154801077	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:154801077T>A	ENST00000392825.3	+	3	634	c.67T>A	c.(67-69)Ttc>Atc	p.F23I	GALNT13_ENST00000409237.1_Missense_Mutation_p.F23I	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	23						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTTGATGTCTTCTTACTGCT	0.423000													11	25					0	0	0.013537	0	0
OC90	729330	broad.mit.edu	37	8	133047064	133047064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:133047064C>T	ENST00000262283.5	-	14	1432	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	OC90_ENST00000603859.1_Missense_Mutation_p.E233K|OC90_ENST00000254627.3_Missense_Mutation_p.E233K|OC90_ENST00000443356.2_Missense_Mutation_p.E249K			Q02509	OC90_HUMAN	otoconin 90	249					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCCACTCCTTCCTGATCGTGG	0.562000													27	43					0	0	0.009535	0	0
APCS	325	broad.mit.edu	37	1	159558139	159558139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:159558139G>A	ENST00000255040.2	+	2	410	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	105	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CAAAGTTATCGAAAAGTTCCC	0.423000													43	13					0	0	0.014410	0	0
MAML2	84441	broad.mit.edu	37	11	95712456	95712456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:95712456G>A	ENST00000524717.1	-	5	4411	c.3127C>T	c.(3127-3129)Ccc>Tcc	p.P1043S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1043					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCCCTGAGGGGACCCATGGTT	0.498000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								13	12					0	0	0.002450	0	0
PDIA2	64714	broad.mit.edu	37	16	336885	336885	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:336885G>A	ENST00000219406.6	+	10	1491	c.1473G>A	c.(1471-1473)ctG>ctA	p.L491L	PDIA2_ENST00000404312.1_Silent_p.L488L	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	491	Thioredoxin 2.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCAAGTTCCTGGACAACGGGG	0.642000													6	3					0	0	0.001984	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570065	47570065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:47570065G>A	ENST00000253048.5	-	15	3497	c.3460C>T	c.(3460-3462)Ccc>Tcc	p.P1154S	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1154							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCCGCGTTGGGAGTCCTCGGG	0.697000													8	9					0	0	0.004482	0	0
OR51I1	390063	broad.mit.edu	37	11	5462631	5462631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:5462631C>T	ENST00000380211.1	-	1	113	c.114G>A	c.(112-114)atG>atA	p.M38I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGGAGATCATGTAGAGGA	0.522000													10	4					0	0	0.006214	0	0
ITGA11	22801	broad.mit.edu	37	15	68643713	68643713	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:68643713C>T	ENST00000423218.2	-	8	872	c.777G>A	c.(775-777)agG>agA	p.R259R	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Silent_p.R259R			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	259	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGGCTCCTTTCCTTCCACCCT	0.557000													31	40					0	0	0.013726	0	0
NIPBL	25836	broad.mit.edu	37	5	36984867	36984867	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:36984867G>C	ENST00000282516.8	+	10	2084	c.1585G>C	c.(1585-1587)Ggt>Cgt	p.G529R	NIPBL_ENST00000448238.2_Missense_Mutation_p.G529R|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	529					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCAGGAGACGGGTTCTACGGG	0.448000													34	47					0	0	0.005524	0	0
CCDC11	220136	broad.mit.edu	37	18	47777871	47777871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:47777871C>T	ENST00000398545.4	-	4	874	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	253										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GCCTCCTCTTCCTTCAGCAGC	0.537000													21	39					0	0	0.002780	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800703	70800703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:70800703G>A	ENST00000333538.5	+	2	1040	c.406G>A	c.(406-408)Gat>Aat	p.D136N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	136						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTCCATTCCGGATTATCGTCC	0.468000													19	35					0	0	0.014323	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691775	106691775	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:106691775C>T	ENST00000390607.2	-	0	327																											ATCGGCCCTTCACTGAGTCTG	0.517000													63	81					0	0	0.014410	0	0
TMEM35	59353	broad.mit.edu	37	X	100349736	100349736	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:100349736T>C	ENST00000372930.4	+	2	578	c.295T>C	c.(295-297)Ttg>Ctg	p.L99L	TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	99						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GTTGCTGGTGTTGGCTGTGCT	0.552000													54	0					0	0	0.014410	0	0
SATB1	6304	broad.mit.edu	37	3	18391078	18391078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:18391078G>A	ENST00000338745.6	-	11	3610	c.1876C>T	c.(1876-1878)Cca>Tca	p.P626S	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.P626S|SATB1_ENST00000417717.2_Missense_Mutation_p.P658S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	626					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGTTGCCGTGGGGGGAGCCGA	0.617000													13	28					0	0	0.004007	0	0
GBA3	57733	broad.mit.edu	37	4	22749269	22749269	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:22749269C>T	ENST00000508166.1	+	0	739				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.R213*(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCCTTATTTCGAAAAAAGCA	0.473000													30	93					0	0	0.010818	0	0
CD22	933	broad.mit.edu	37	19	35827111	35827111	+	Silent	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:35827111C>A	ENST00000085219.5	+	4	651	c.585C>A	c.(583-585)atC>atA	p.I195I	CD22_ENST00000270311.6_Silent_p.I75I|CD22_ENST00000419549.2_Silent_p.I23I|CD22_ENST00000594250.1_Silent_p.I195I|CD22_ENST00000544992.2_Silent_p.I195I|CD22_ENST00000341773.6_Silent_p.I195I|CD22_ENST00000536635.2_Silent_p.I195I	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	195	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCTTGACCATCAAGTCTGTCT	0.547000													29	28					1.75199e-13	2.34323e-13	0.007291	1	0
MYH6	4624	broad.mit.edu	37	14	23855611	23855611	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:23855611G>A	ENST00000405093.3	-	33	4942	c.4872C>T	c.(4870-4872)ctC>ctT	p.L1624L	MYH6_ENST00000356287.3_Silent_p.L1624L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1624					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCATCTCATTGAGGTCTCCTT	0.607000													41	37					0	0	0.009718	0	0
C7	730	broad.mit.edu	37	5	40958162	40958162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:40958162G>A	ENST00000313164.9	+	11	1647	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	430	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GCTGGTAAAGGAAGTACCTTG	0.393000													5	12					0	0	0.000602	0	0
UMOD	7369	broad.mit.edu	37	16	20352594	20352594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20352594G>A	ENST00000396134.2	-	8	1618	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S	UMOD_ENST00000302509.4_Missense_Mutation_p.P466S|UMOD_ENST00000396138.4_Missense_Mutation_p.P515S|UMOD_ENST00000396142.2_Missense_Mutation_p.P466S|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000570689.1_Missense_Mutation_p.P466S|UMOD_ENST00000424589.1_Missense_Mutation_p.P499S	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	466	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.P466T(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTGTAGGAAGGGGTCTGGAAG	0.612000													13	20					0	0	0.013537	0	0
SPIRE1	56907	broad.mit.edu	37	18	12449891	12449891	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:12449891A>G	ENST00000409402.4	-	17	2284	c.2017T>C	c.(2017-2019)Tcc>Ccc	p.S673P	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Missense_Mutation_p.S462P|SPIRE1_ENST00000453447.2_Missense_Mutation_p.S539P|SPIRE1_ENST00000410092.3_Missense_Mutation_p.S659P	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	673						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GATTTTGAGGAGAACCTGGGG	0.388000													14	30					0	0	0.003163	0	0
PCDH7	5099	broad.mit.edu	37	4	30921781	30921781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:30921781C>T	ENST00000543491.1	+	2	3181	c.3181C>T	c.(3181-3183)Cgt>Tgt	p.R1061C	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCAGCCATTTCGTAGAGTGAC	0.403000													13	9					0	0	0.001855	0	0
ZNF318	24149	broad.mit.edu	37	6	43305536	43305536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:43305536G>A	ENST00000361428.2	-	10	6277	c.6200C>T	c.(6199-6201)tCt>tTt	p.S2067F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2067					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCAGAAAAAGATGGGATTGG	0.458000													19	22					0	0	0.010504	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072305	34072305	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:34072305C>T	ENST00000254466.6	-	6	2238	c.2211G>A	c.(2209-2211)gaG>gaA	p.E737E	GAS2L2_ENST00000587565.1_Silent_p.E721E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	737					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)		GTGTGGGGGCCTCCGGGCTGG	0.627000													40	74					0	0	0.010771	0	0
ZNF287	57336	broad.mit.edu	37	17	16455996	16455996	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:16455996T>C	ENST00000395824.1	-	6	2077	c.1460A>G	c.(1459-1461)aAa>aGa	p.K487R	ZNF287_ENST00000395825.3_Missense_Mutation_p.K487R			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	480					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ACTGAAGGTTTTACCACATTC	0.398000													22	30					0	0	0.004656	0	0
NRROS	375387	broad.mit.edu	37	3	196386645	196386645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:196386645G>A	ENST00000328557.4	+	3	334	c.131G>A	c.(130-132)cGa>cAa	p.R44Q		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		GCTGACTGCCGAGGGCAGAGC	0.617000													10	8					0	0	0.008291	0	0
OR4B1	119765	broad.mit.edu	37	11	48239237	48239237	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:48239237G>A	ENST00000309562.2	+	1	894	c.876G>A	c.(874-876)gtG>gtA	p.V292V		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ATGCAGAGGTGAAAATCGCCA	0.423000													10	10					0	0	0.008291	0	0
GLIS3	169792	broad.mit.edu	37	9	3898796	3898796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:3898796C>T	ENST00000324333.10	-	6	1751	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	GLIS3-AS1_ENST00000451340.2_RNA|GLIS3_ENST00000381971.3_Missense_Mutation_p.D675N|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	520					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTGAGGCAATCTGTGAGCAGG	0.587000													20	8					0	0	0.007413	0	0
DMBT1	1755	broad.mit.edu	37	10	124395546	124395546	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:124395546C>T	ENST00000338354.3	+	50	6307	c.6201C>T	c.(6199-6201)ttC>ttT	p.F2067F	DMBT1_ENST00000368956.2_Silent_p.F1439F|DMBT1_ENST00000344338.3_Silent_p.F2057F|DMBT1_ENST00000368955.3_Silent_p.F2057F|DMBT1_ENST00000359586.6_Silent_p.F787F|DMBT1_ENST00000330163.4_Silent_p.F1439F|DMBT1_ENST00000368909.3_Silent_p.F2067F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2067	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGAAGTTTTCGATGGCCCCT	0.502000													19	32					0	0	0.014323	0	0
CD28	940	broad.mit.edu	37	2	204591369	204591369	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:204591369G>A	ENST00000374481.3	+	2	288	c.66G>A	c.(64-66)ttG>ttA	p.L22L	CD28_ENST00000458610.2_Silent_p.L36L|CD28_ENST00000324106.7_Silent_p.L22L|CD28_ENST00000374478.4_Intron			P10747	CD28_HUMAN	CD28 molecule	22					cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						ACAAGATTTTGGTGAAGCAGT	0.393000													29	11					0	0	0.013726	0	0
NFATC4	4776	broad.mit.edu	37	14	24839800	24839800	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:24839800G>A	ENST00000413692.2	+	3	1529	c.1385_splice	c.e3+1	p.R462_splice	NFATC4_ENST00000554050.1_Splice_Site_p.R399_splice|NFATC4_ENST00000555453.1_Splice_Site_p.R387_splice|NFATC4_ENST00000554661.1_Splice_Site_p.R329_splice|NFATC4_ENST00000553708.1_Splice_Site_p.R399_splice|NFATC4_ENST00000554344.1_Splice_Site_p.R329_splice|NFATC4_ENST00000553879.1_Splice_Site_p.R329_splice|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000555590.1_Splice_Site_p.R412_splice|NFATC4_ENST00000424781.2_Splice_Site_p.R412_splice|NFATC4_ENST00000557451.1_Splice_Site_p.R329_splice|NFATC4_ENST00000250373.4_Splice_Site_p.R399_splice|NFATC4_ENST00000539237.2_Splice_Site_p.R431_splice|NFATC4_ENST00000422617.3_Splice_Site_p.R387_splice|NFATC4_ENST00000553469.1_Splice_Site_p.R431_splice|NFATC4_ENST00000554591.1_Splice_Site_p.R462_splice|NFATC4_ENST00000554966.1_Splice_Site_p.R412_splice|NFATC4_ENST00000556169.1_Splice_Site_p.R387_splice|NFATC4_ENST00000556279.1_Splice_Site_p.R431_splice	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	399	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCTATCTTCAGGTGAGGGTTG	0.602000													13	13					0	0	0.003163	0	0
SHC3	53358	broad.mit.edu	37	9	91652975	91652975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:91652975G>A	ENST00000375835.4	-	11	1895	c.1589C>T	c.(1588-1590)tCc>tTc	p.S530F	SHC3_ENST00000375830.1_Missense_Mutation_p.S78F|SHC3_ENST00000375831.1_Missense_Mutation_p.S78F	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	530	SH2.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	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						GAGGACAAAGGAGCCCGGGTT	0.632000													80	39					0	0	0.014410	0	0
CLGN	1047	broad.mit.edu	37	4	141311802	141311802	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:141311802T>G	ENST00000325617.5	-	14	2172	c.1732A>C	c.(1732-1734)Aag>Cag	p.K578Q	CLGN_ENST00000537281.1_Missense_Mutation_p.K578Q|CLGN_ENST00000414773.1_Missense_Mutation_p.K578Q	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	578					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GACCCAGACTTATTTGATTGA	0.313000													15	46					0	0	0.004007	0	0
DSE	29940	broad.mit.edu	37	6	116756814	116756814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:116756814G>A	ENST00000331677.3	+	7	1627	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	DSE_ENST00000359564.2_Missense_Mutation_p.E395K|DSE_ENST00000452085.3_Missense_Mutation_p.E395K|DSE_ENST00000537543.1_Missense_Mutation_p.E414K			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	395					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GCATTATTTTGAAGACTGGGG	0.413000													14	24					0	0	0.004007	0	0
TLR7	51284	broad.mit.edu	37	X	12904972	12904972	+	Silent	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:12904972A>C	ENST00000380659.3	+	3	1484	c.1345A>C	c.(1345-1347)Aga>Cga	p.R449R		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	449					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CTCAAATGCCAGAACTTCTGT	0.353000													39	2					0	0	0.007835	0	0
PSME1	5720	broad.mit.edu	37	14	24607772	24607772	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:24607772G>A	ENST00000382708.3	+	10	735	c.672G>A	c.(670-672)gtG>gtA	p.V224V	PSME1_ENST00000559123.1_Intron|PSME1_ENST00000206451.6_Intron|PSME1_ENST00000561435.1_Silent_p.V224V	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		ATGCTTATGTGAGGAGGCAAG	0.607000													37	35					0	0	0.006999	0	0
PCSK5	5125	broad.mit.edu	37	9	78547381	78547381	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:78547381C>T	ENST00000545128.1	+	2	817	c.279C>T	c.(277-279)ttC>ttT	p.F93F	PCSK5_ENST00000376767.3_Silent_p.F93F|PCSK5_ENST00000376752.4_Silent_p.F93F	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	93					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCACAGTTTCATTTCAATGG	0.478000													16	3					0	0	0.007413	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596384	11596384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:11596384G>A	ENST00000294484.6	+	21	3958	c.3820G>A	c.(3820-3822)Gcc>Acc	p.A1274T	PTCHD2_ENST00000304391.6_Missense_Mutation_p.R160H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.A1274T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1274					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCCCAGGACGCCCGAACGCA	0.711000													13	7					0	0	0.004007	0	0
C8orf34	116328	broad.mit.edu	37	8	69728120	69728120	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:69728120G>A	ENST00000337103.4	+	12	2808		c.e12-1		C8orf34_ENST00000539993.1_Splice_Site|C8orf34_ENST00000518698.1_Splice_Site			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34						signal transduction		cAMP-dependent protein kinase regulator activity			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)			TTGTTGTGCAGGTTCCGCTGA	0.418000													16	17					0	0	0.007413	0	0
QTRT1	81890	broad.mit.edu	37	19	10822887	10822887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:10822887G>A	ENST00000250237.5	+	6	707	c.697G>A	c.(697-699)Ggt>Agt	p.G233S		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	233					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CCTGAGCGGGGGTGAGAGCAA	0.617000													28	47					0	0	0.013726	0	0
LINC00303	284573	broad.mit.edu	37	1	204006599	204006599	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:204006599G>A	ENST00000367207.3	-	0	421																											AAGCCCGCGCGATGGGAGTCA	0.607000													11	59					0	0	0.001855	0	0
ETS1	2113	broad.mit.edu	37	11	128332386	128332386	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:128332386T>A	ENST00000392668.3	-	10	1396	c.1328A>T	c.(1327-1329)aAa>aTa	p.K443I	ETS1_ENST00000526145.1_Missense_Mutation_p.K312I|ETS1_ENST00000531611.1_3'UTR|ETS1_ENST00000535549.1_Missense_Mutation_p.K183I|ETS1_ENST00000319397.5_Missense_Mutation_p.K399I|ETS1_ENST00000345075.4_Missense_Mutation_p.K312I	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	399					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GATGATGTTTTTGTCGTAATA	0.498000													18	29					0	0	0.012319	0	0
HNF1B	6928	broad.mit.edu	37	17	36065052	36065052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:36065052G>A	ENST00000225893.4	-	6	1572	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L	HNF1B_ENST00000427275.2_Missense_Mutation_p.S378L|HNF1B_ENST00000560016.1_Missense_Mutation_p.S404L|HNF1B_ENST00000561193.1_Missense_Mutation_p.S378L	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	404					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TCCTGAGACTGAGATCTGATG	0.488000													84	140					0	0	0.014410	0	0
CYP4F8	11283	broad.mit.edu	37	19	15734019	15734019	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:15734019C>T	ENST00000441682.2	+	0	813							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTCCTCACTCCCTGTGGACGG	0.557000													23	39					0	0	0.005443	0	0
ATP1A3	478	broad.mit.edu	37	19	42471896	42471896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:42471896C>T	ENST00000545399.1	-	21	3031	c.2878G>A	c.(2878-2880)Ggg>Agg	p.G960R	ATP1A3_ENST00000302102.5_Missense_Mutation_p.G947R|ATP1A3_ENST00000602133.1_Missense_Mutation_p.G917R|ATP1A3_ENST00000543770.1_Missense_Mutation_p.G958R	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	947					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCAAACAGCCCGAAGATCAGG	0.662000													10	19					0	0	0.010729	0	0
PDE3A	5139	broad.mit.edu	37	12	20799791	20799791	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:20799791G>A	ENST00000359062.3	+	12	2512	c.2472G>A	c.(2470-2472)ttG>ttA	p.L824L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	824	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCCCTGCCTTGGAGTTGATGG	0.438000													25	59					0	0	0.004656	0	0
DVL3	1857	broad.mit.edu	37	3	183888309	183888309	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:183888309C>T	ENST00000313143.3	+	15	2165	c.1917C>T	c.(1915-1917)tcC>tcT	p.S639S	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Silent_p.S622S	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	639					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GCCACCATTCCCTGGCCAGCA	0.741000													7	1					0	0	0.003080	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147032	55147032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:55147032G>A	ENST00000370862.3	+	7	1451	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	372					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGAAAATTTCGAGAGGAATTT	0.453000													6	3					0	0	0.001168	0	0
TICRR	90381	broad.mit.edu	37	15	90128992	90128992	+	Silent	SNP	C	C	T	rs144998725	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:90128992C>T	ENST00000268138.7	+	4	1335	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	TICRR_ENST00000560985.1_Silent_p.S409S|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator																		GAGTTATTTCCCCACTCTCTG	0.527000													17	12					0	0	0.007413	0	0
ROBO4	54538	broad.mit.edu	37	11	124763833	124763833	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124763833A>G	ENST00000306534.3	-	9	1912	c.1427T>C	c.(1426-1428)gTt>gCt	p.V476A	ROBO4_ENST00000533054.1_Missense_Mutation_p.V331A	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	476					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCAGAGTGCAACACCGCAGGT	0.657000													6	6					0	0	0.003080	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450438	105450438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:105450438G>A	ENST00000337685.2	+	5	1798	c.1013G>A	c.(1012-1014)aGa>aAa	p.R338K	MUM1L1_ENST00000357175.2_Missense_Mutation_p.R338K|MUM1L1_ENST00000372552.1_Missense_Mutation_p.R338K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	338										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTAGTGAAAGAAATTTTCAG	0.428000													3	0					0	0	0.004672	0	0
TNFSF11	8600	broad.mit.edu	37	13	43148574	43148574	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:43148574C>T	ENST00000239849.6	+	1	286	c.135C>T	c.(133-135)tcC>tcT	p.S45S	TNFSF11_ENST00000398795.2_5'UTR|TNFSF11_ENST00000544862.1_Intron|TNFSF11_ENST00000358545.2_Intron|TNFSF11_ENST00000405262.2_Intron			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	45					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		CTGCCGCCTCCCGCTCCATGT	0.736000													17	16					0	0	0.010504	0	0
DNAH8	1769	broad.mit.edu	37	6	38950129	38950129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:38950129G>A	ENST00000359357.3	+	84	12445	c.12191G>A	c.(12190-12192)cGa>cAa	p.R4064Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4028Q					dynein, axonemal, heavy chain 8											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						AAGGAGCGACGAAAATTTGGC	0.343000													21	79					0	0	0.003954	0	0
NPAS3	64067	broad.mit.edu	37	14	34247775	34247775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:34247775G>A	ENST00000346562.2	+	8	1128	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	NPAS3_ENST00000548645.1_Missense_Mutation_p.D354N|NPAS3_ENST00000356141.4_Missense_Mutation_p.D384N|NPAS3_ENST00000551492.1_Missense_Mutation_p.D389N|NPAS3_ENST00000357798.5_Missense_Mutation_p.D371N	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	384	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CAGTCACTTGGACTGTAAGTA	0.488000													18	20					0	0	0.008871	0	0
TNXB	7148	broad.mit.edu	37	6	32020699	32020699	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32020699G>A	ENST00000375244.3	-	26	9064	c.8863C>T	c.(8863-8865)Ctg>Ttg	p.L2955L	TNXB_ENST00000375247.2_Silent_p.L2953L			P22105	TENX_HUMAN	tenascin XB	3000	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCTCCCCCAGGAGCGGCTCC	0.647000													81	191					0	0	0.014410	0	0
SENP8	123228	broad.mit.edu	37	15	72432346	72432346	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:72432346C>T	ENST00000544411.1	+	3	869	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	SENP8_ENST00000544171.1_Missense_Mutation_p.H128Y|SENP8_ENST00000340912.4_Missense_Mutation_p.H128Y|SENP8_ENST00000542035.2_Missense_Mutation_p.H128Y	NM_001172109.1|NM_001172110.1	NP_001165580.1|NP_001165581.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	128	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						CAACTCAGTTCACGCAAAGCA	0.463000													27	1					0	0	0.003954	0	0
MAP3K14	9020	broad.mit.edu	37	17	43367999	43367999	+	RNA	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:43367999G>T	ENST00000344686.2	-	0	221							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTGTAGACGGAGCTCTGTTT	0.592000													31	20					4.34311e-12	5.79905e-12	0.003271	1	0
DMKN	93099	broad.mit.edu	37	19	36004242	36004242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:36004242C>T	ENST00000339686.3	-	1	312	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	DMKN_ENST00000424570.2_Missense_Mutation_p.A46T|DMKN_ENST00000419602.1_Missense_Mutation_p.A46T|DMKN_ENST00000451297.2_Missense_Mutation_p.A46T|DMKN_ENST00000440396.1_Missense_Mutation_p.A46T|DMKN_ENST00000447113.2_Missense_Mutation_p.A46T|DMKN_ENST00000418261.1_Missense_Mutation_p.A46T|DMKN_ENST00000429837.1_Missense_Mutation_p.A46T	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	46	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCGCTCAGGGCGTCTCCCAGG	0.642000													30	31					0	0	0.010818	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5204836	5204836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:5204836C>T	ENST00000334314.3	-	2	317	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K						aldo-keto reductase family 1, member C-like 1											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TAGAATATTTCCTCTCTCTTG	0.413000													40	53					0	0	0.014410	0	0
BANK1	55024	broad.mit.edu	37	4	102776332	102776332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:102776332G>A	ENST00000504592.1	+	7	983	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	BANK1_ENST00000322953.4_Missense_Mutation_p.E204K|BANK1_ENST00000508653.1_Missense_Mutation_p.E71K|BANK1_ENST00000444316.2_Missense_Mutation_p.E174K|BANK1_ENST00000428908.1_Missense_Mutation_p.E71K			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	204					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GCTTCCCACTGAAATTCCATG	0.428000													21	33					0	0	0.002780	0	0
TXNDC15	79770	broad.mit.edu	37	5	134223701	134223701	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:134223701C>T	ENST00000358387.4	+	2	1045	c.420C>T	c.(418-420)ttC>ttT	p.F140F	TXNDC15_ENST00000546290.1_Silent_p.F117F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	140					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGCACACTTCCCTGACAGAG	0.562000													14	27					0	0	0.003163	0	0
CWH43	80157	broad.mit.edu	37	4	49034726	49034726	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:49034726A>G	ENST00000226432.4	+	12	1835	c.1652A>G	c.(1651-1653)aAc>aGc	p.N551S	CWH43_ENST00000513409.1_Missense_Mutation_p.N524S	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	551					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CACTTTGGGAACCACGAGTGG	0.438000													21	17					0	0	0.003330	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204197269	204197269	+	Silent	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:204197269C>A	ENST00000272203.3	-	21	3289	c.2973G>T	c.(2971-2973)cgG>cgT	p.R991R	PLEKHA6_ENST00000414478.1_Silent_p.R1011R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	991										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGATTTCAATCCGCTTCTCCT	0.657000													8	36					5.18039e-06	6.85504e-06	0.003080	1	0
MUC20	200958	broad.mit.edu	37	3	195453125	195453125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:195453125C>T	ENST00000320736.6	+	3	1264	c.1138C>T	c.(1138-1140)Ccg>Tcg	p.P380S	MUC20_ENST00000447234.2_Missense_Mutation_p.P551S|MUC20_ENST00000436408.1_Missense_Mutation_p.P551S|MUC20_ENST00000445522.2_Missense_Mutation_p.P516S	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	551	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AGGAGCAGCTCCGGTCTCCAT	0.552000													12	7					0	0	0.010729	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506539	27506539	+	Silent	SNP	C	C	T	rs145138670		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:27506539C>T	ENST00000356183.4	-	15	2640	c.2625G>A	c.(2623-2625)acG>acA	p.T875T	GTF3C1_ENST00000561623.1_Silent_p.T875T	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	875						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CACCTGTCTCCGTGGCAAGCT	0.587000													30	43					0	0	0.010818	0	0
FAM83E	54854	broad.mit.edu	37	19	49104499	49104499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:49104499G>A	ENST00000263266.3	-	5	1493	c.1304C>T	c.(1303-1305)cCc>cTc	p.P435L		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	435										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCGGTGGGCGGGGGGCAGGGG	0.687000													12	11					0	0	0.003163	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279220	47279220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:47279220G>A	ENST00000271153.4	+	5	598	c.562G>A	c.(562-564)Gcg>Acg	p.A188T	CYP4B1_ENST00000371919.4_Missense_Mutation_p.A173T|CYP4B1_ENST00000452782.2_Missense_Mutation_p.A25T|CYP4B1_ENST00000371923.4_Missense_Mutation_p.A188T			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	188					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GGGTCACATGGCGCTGAACAC	0.577000													40	9					0	0	0.007835	0	0
HYDIN	54768	broad.mit.edu	37	16	70908326	70908326	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:70908326C>T	ENST00000393567.2	-	64	10980	c.10830G>A	c.(10828-10830)gaG>gaA	p.E3610E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3610										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGATGTCATCCTCATAGCCCT	0.498000													6	15					0	0	0.010729	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45730953	45730953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:45730953G>A	ENST00000413988.1	-	5	411	c.371C>T	c.(370-372)aCc>aTc	p.T124I	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.T124I	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	124										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CAGGGCGATGGTCTTGCTGAT	0.602000													20	25					0	0	0.003954	0	0
LDB3	11155	broad.mit.edu	37	10	88476310	88476310	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:88476310C>T	ENST00000429277.2	+	10	1618	c.1473C>T	c.(1471-1473)agC>agT	p.S491S	LDB3_ENST00000352360.5_Silent_p.S229S|LDB3_ENST00000361373.4_Silent_p.S486S|LDB3_ENST00000458213.2_Silent_p.S376S|LDB3_ENST00000263066.6_Silent_p.S376S	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	486						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGCCTGCCAGCCGTCCACCCT	0.657000													38	43					0	0	0.009718	0	0
CASR	846	broad.mit.edu	37	3	122002657	122002657	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:122002657T>C	ENST00000498619.1	+	7	2324	c.1886T>C	c.(1885-1887)tTt>tCt	p.F629S	CASR_ENST00000490131.1_Missense_Mutation_p.F619S|CASR_ENST00000296154.5_Missense_Mutation_p.F619S	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	619					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTCACCCTCTTTGCCGTGCTG	0.542000													18	25					0	0	0.007413	0	0
DEFB125	245938	broad.mit.edu	37	20	76660	76660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:76660C>T	ENST00000382410.2	+	2	73	c.73C>T	c.(73-75)Caa>Taa	p.Q25*		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	25					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			CTTTGAACCCCAAAAATGTTG	0.333000													17	37					0	0	0.008871	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49143444	49143444	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:49143444C>T	ENST00000055335.6	+	4	2308	c.2292C>T	c.(2290-2292)acC>acT	p.T764T	PPP1R3F_ENST00000376188.1_Silent_p.T418T|PPP1R3F_ENST00000466508.1_Silent_p.T418T|PPP1R3F_ENST00000495799.1_Silent_p.T418T|PPP1R3F_ENST00000438316.1_Silent_p.T435T	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	764						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GGCCCTTGACCCAGACTCTGG	0.632000													26	2					0	0	0.008361	0	0
ACER2	340485	broad.mit.edu	37	9	19446396	19446396	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:19446396C>T	ENST00000340967.2	+	5	647	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	207					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CCTTCAACTTCCCCTACCTGC	0.587000													35	16					0	0	0.005524	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393495	145393495	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:145393495G>A	ENST00000511217.1	+	4	982	c.930G>A	c.(928-930)cgG>cgA	p.R310R	SH3RF2_ENST00000359120.4_Silent_p.R310R			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	310							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCTCAACCGGATGGTCCATT	0.582000													41	52					0	0	0.006999	0	0
ZNF536	9745	broad.mit.edu	37	19	31038981	31038981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:31038981C>T	ENST00000355537.3	+	4	2602	c.2455C>T	c.(2455-2457)Caa>Taa	p.Q819*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCCCCAAATCAAGACCACAA	0.567000													42	47					0	0	0.014410	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676362	20676362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:20676362C>T	ENST00000525748.1	+	16	2615	c.2342C>T	c.(2341-2343)tCc>tTc	p.S781F	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	781					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGAACCTCTTCCTTGGGACTC	0.552000													75	26					0	0	0.014410	0	0
LY75	4065	broad.mit.edu	37	2	160735848	160735848	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:160735848C>T	ENST00000263636.4	-	9	1464	c.1437G>A	c.(1435-1437)gaG>gaA	p.E479E	LY75-CD302_ENST00000504764.1_Silent_p.E479E|LY75_ENST00000553424.1_Silent_p.E479E|LY75_ENST00000554112.1_Silent_p.E479E|LY75-CD302_ENST00000505052.1_Silent_p.E479E	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATTTTAGTTTCTCCTCACATG	0.373000													23	20					0	0	0.003954	0	0
COL17A1	1308	broad.mit.edu	37	10	105800154	105800154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:105800154C>T	ENST00000353479.5	-	40	3006	c.2716G>A	c.(2716-2718)Ggc>Agc	p.G906S	COL17A1_ENST00000369733.3_Missense_Mutation_p.G906S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	906	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.G906S(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGGGGGGCCGGAGAGGAAG	0.532000													58	55					0	0	0.014410	0	0
CARD18	59082	broad.mit.edu	37	11	105009598	105009598	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:105009598A>T	ENST00000530950.1	-	2	214	c.215T>A	c.(214-216)tTt>tAt	p.F72Y	CARD18_ENST00000526823.1_Missense_Mutation_p.F33Y|CARD18_ENST00000532895.1_Missense_Mutation_p.F33Y	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	72	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						ATGCTTGATAAATTTGCAGCA	0.428000													62	59					0	0	0.014410	0	0
GRIK3	2899	broad.mit.edu	37	1	37270690	37270690	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:37270690G>A	ENST00000373091.3	-	15	2479	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	GRIK3_ENST00000373093.4_Silent_p.I821I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	821					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGATGCCCCCGATCTTCTGGA	0.597000													50	22					0	0	0.014410	0	0
GRAP2	9402	broad.mit.edu	37	22	40351847	40351847	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:40351847T>C	ENST00000344138.4	+	3	366	c.103T>C	c.(103-105)Ttt>Ctt	p.F35L	GRAP2_ENST00000543252.1_Missense_Mutation_p.F35L|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000407075.3_Missense_Mutation_p.F35L|GRAP2_ENST00000544756.1_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	35	SH3 1.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AGAGGAGTGGTTTAAGGCGGA	0.468000													14	25					0	0	0.002450	0	0
CDH23	64072	broad.mit.edu	37	10	73556880	73556880	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:73556880C>T	ENST00000224721.6	+	48	6752	c.6747C>T	c.(6745-6747)tcC>tcT	p.S2249S	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.S4S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2244	Cadherin 21.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGTGAAGTCCCCCATGAATC	0.557000													7	9					0	0	0.004482	0	0
PKHD1	5314	broad.mit.edu	37	6	51612696	51612696	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:51612696G>A	ENST00000371117.3	-	58	9993	c.9718C>T	c.(9718-9720)Cga>Tga	p.R3240*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.R3240*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3240					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATACCAATTCGACCTCCTCTT	0.478000													15	15					0	0	0.004990	0	0
COL5A1	1289	broad.mit.edu	37	9	137620525	137620525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:137620525G>A	ENST00000371817.3	+	6	1210	c.796G>A	c.(796-798)Gga>Aga	p.G266R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	266	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTACACGGAAGGAGACGGCGA	0.607000													31	74					0	0	0.012213	0	0
FNBP1	23048	broad.mit.edu	37	9	132720823	132720823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:132720823C>T	ENST00000420781.1	-	5	573	c.355G>A	c.(355-357)Gat>Aat	p.D119N	FNBP1_ENST00000355681.3_Missense_Mutation_p.D119N|FNBP1_ENST00000446176.2_Missense_Mutation_p.D119N			Q96RU3	FNBP1_HUMAN	formin binding protein 1	119	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTACGGCCATCGTGAAAGTTC	0.418000			T	MLL	AML								11	3					0	0	0.008291	0	0
MORN3	283385	broad.mit.edu	37	12	122091160	122091160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:122091160C>T	ENST00000355329.3	-	4	639	c.469G>A	c.(469-471)Ggg>Agg	p.G157R		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	157										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TAGCGGTTCCCGTTCTCTGGG	0.592000													10	14					0	0	0.013537	0	0
RIN1	9610	broad.mit.edu	37	11	66099971	66099971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:66099971G>A	ENST00000311320.4	-	10	2254	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	RIN1_ENST00000424433.2_Intron|RIN1_ENST00000530056.1_Nonsense_Mutation_p.Q544*	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	710	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						ACAGCCCCCTGGGTCTCAGGC	0.687000													64	65					0	0	0.014410	0	0
ILVBL	10994	broad.mit.edu	37	19	15226687	15226687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:15226687C>T	ENST00000263383.3	-	14	1727	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	ILVBL_ENST00000534378.1_Missense_Mutation_p.E423K	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	530	Thiamine pyrophosphate binding (By similarity).					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GTATCAAATTCGATGAGGCTG	0.587000													16	24					0	0	0.004007	0	0
GPR83	10888	broad.mit.edu	37	11	94113726	94113726	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:94113726C>T	ENST00000243673.2	-	4	1032	c.861G>A	c.(859-861)aaG>aaA	p.K287K	GPR83_ENST00000539203.2_Silent_p.K245K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	287						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGGTCTTCTTCTTTTTGCGCC	0.532000													9	18					0	0	0.008291	0	0
UTS2	10911	broad.mit.edu	37	1	7910940	7910940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:7910940C>T	ENST00000377516.2	-	3	466	c.146G>A	c.(145-147)aGa>aAa	p.R49K	UTS2_ENST00000361696.5_Missense_Mutation_p.R49K|UTS2_ENST00000054668.5_Missense_Mutation_p.R64K			O95399	UTS2_HUMAN	urotensin 2	49					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		AAGGGAAGCTCTTTCTAGCTC	0.443000													27	84					0	0	0.003755	0	0
MORC2	22880	broad.mit.edu	37	22	31337890	31337890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:31337890G>A	ENST00000215862.4	-	9	1863	c.500C>T	c.(499-501)tCc>tTc	p.S167F	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000397641.2_Missense_Mutation_p.S229F	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	229							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GCCCTCTGGGGACGTCTCTGC	0.512000													53	60					0	0	0.014410	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970605	45970605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:45970605C>T	ENST00000391621.1	-	1	783	c.737G>A	c.(736-738)aGc>aAc	p.S246N	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	246						keratin filament				large_intestine(1)|lung(4)|skin(1)	6						TGAGGAAAAGCTGCAGGAGGC	0.672000													22	38					0	0	0.002780	0	0
ANO2	57101	broad.mit.edu	37	12	5756967	5756967	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:5756967C>T	ENST00000356134.5	-	17	1620	c.1548_splice	c.e17-1	p.D517_splice	ANO2_ENST00000546188.1_Splice_Site_p.D517_splice|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Splice_Site_p.D516_splice	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	521						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCTTCATCATCCTGGGGAGAA	0.418000													10	3					0	0	0.010729	0	0
CD3E	916	broad.mit.edu	37	11	118183553	118183553	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:118183553G>A	ENST00000361763.4	+	6	615	c.324G>A	c.(322-324)gcG>gcA	p.A108A	CD3E_ENST00000528600.1_Silent_p.A102A	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	108	Ig-like.				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	p.A108A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	CAGAAGATGCGAACTTTTATC	0.468000													25	33					0	0	0.004656	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31721350	31721350	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:31721350C>T	ENST00000493662.2	+	12	1065	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L	MSH5_ENST00000375742.3_Silent_p.L337L|MSH5_ENST00000431848.2_Silent_p.L19L|MSH5_ENST00000375755.3_Silent_p.L320L|MSH5_ENST00000375740.3_Silent_p.L337L|MSH5_ENST00000375750.3_Silent_p.L320L|MSH5_ENST00000534153.4_Silent_p.L337L|MSH5_ENST00000375703.3_Silent_p.L320L																							GTAGCTGATTCTGAAACGCAT	0.517000													116	79					0	0	0.014410	0	0
SLC6A2	6530	broad.mit.edu	37	16	55725862	55725862	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:55725862C>T	ENST00000379906.2	+	5	1071	c.816C>T	c.(814-816)ttC>ttT	p.F272F	SLC6A2_ENST00000561820.1_Silent_p.F272F|SLC6A2_ENST00000567238.1_Silent_p.F167F|SLC6A2_ENST00000414754.3_Silent_p.F272F|SLC6A2_ENST00000568943.1_Silent_p.F272F|SLC6A2_ENST00000219833.8_Silent_p.F272F|SLC6A2_ENST00000566163.1_Intron	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	272					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	p.F272F(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGCCTTACTTCGTGCTGTTCG	0.607000													19	5					0	0	0.007413	0	0
CPA1	1357	broad.mit.edu	37	7	130020994	130020994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:130020994G>A	ENST00000011292.3	+	2	271	c.121G>A	c.(121-123)Gag>Aag	p.E41K	CPA1_ENST00000484324.1_5'UTR	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	41					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GAAGGTGAAGGAGCTGGAGGA	0.642000													10	16					0	0	0.008291	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172310	21172310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:21172310G>A	ENST00000421593.2	+	2	214	c.214G>A	c.(214-216)Gga>Aga	p.G72R	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTCTTCATGGGATAGTAAGT	0.318000													15	12					0	0	0.010504	0	0
LRSAM1	90678	broad.mit.edu	37	9	130255173	130255173	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:130255173C>T	ENST00000323301.4	+	20	2200	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	LRSAM1_ENST00000300417.6_Silent_p.I532I|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Silent_p.I532I|LRSAM1_ENST00000373324.4_Silent_p.I505I	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	532					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TCCGGGAAATCCTGGTATGTG	0.502000													7	15					0	0	0.003080	0	0
CSHL1	1444	broad.mit.edu	37	17	61987878	61987878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:61987878C>T	ENST00000309894.5	-	3	207	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000392824.4_Silent_p.R139R|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	70						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TACTTCTGTTCCTTTGTGATA	0.502000													57	59					0	0	0.014410	0	0
PF4V1	5197	broad.mit.edu	37	4	74719088	74719088	+	Silent	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:74719088C>A	ENST00000226524.3	+	1	183	c.9C>A	c.(7-9)tcC>tcA	p.S3S		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	3					immune response	extracellular region	chemokine activity|heparin binding			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			ACATGAGCTCCGCAGCCAGGT	0.642000													17	11					1.01871e-10	1.35931e-10	0.008871	1	0
KCNB1	3745	broad.mit.edu	37	20	47989982	47989982	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:47989982G>A	ENST00000371741.4	-	2	2281	c.2115C>T	c.(2113-2115)gtC>gtT	p.V705V		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	705	Poly-Ala.				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCAGTCCAGCGACAGCAGCCG	0.592000													12	21					0	0	0.002450	0	0
PIK3R6	146850	broad.mit.edu	37	17	8738707	8738707	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:8738707G>A	ENST00000311434.9	-	8	767	c.528C>T	c.(526-528)atC>atT	p.I176I	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	176					platelet activation	cytosol											GGGCCGCCTCGATCTCCAGTA	0.652000													15	12					0	0	0.003163	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37414911	37414911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:37414911C>T	ENST00000374660.1	+	1	127	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.L10F|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.L10F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	66						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						GACCATCAACCTTAATATACA	0.582000													22	29					0	0	0.006320	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136402603	136402603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:136402603G>A	ENST00000393061.3	+	3	926	c.494G>A	c.(493-495)tGg>tAg	p.W165*	ADAMTSL2_ENST00000354484.4_Nonsense_Mutation_p.W56*|ADAMTSL2_ENST00000393060.1_Nonsense_Mutation_p.W56*			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	56					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TGGACCAAGTGGACGGCGTGT	0.677000													35	25					0	0	0.003271	0	0
SLC25A39	51629	broad.mit.edu	37	17	42397637	42397637	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:42397637G>A	ENST00000225308.8	-	11	1041	c.867C>T	c.(865-867)ccC>ccT	p.P289P	SLC25A39_ENST00000586016.1_Silent_p.P165P|SLC25A39_ENST00000590194.1_Silent_p.P289P|SLC25A39_ENST00000377095.5_Silent_p.P297P|SLC25A39_ENST00000537904.2_Silent_p.P274P	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	297					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCACATGCAGGGGGTTCACTG	0.662000													23	29					0	0	0.002780	0	0
GCAT	23464	broad.mit.edu	37	22	38208989	38208989	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:38208989C>T	ENST00000323205.6	+	3	564	c.501C>T	c.(499-501)ctC>ctT	p.L167L	GCAT_ENST00000415371.1_3'UTR|GCAT_ENST00000248924.6_Silent_p.L141L	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	141					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACGCCGGCCTCTTTGAGGTGT	0.572000													29	35					0	0	0.012213	0	0
FBXO18	84893	broad.mit.edu	37	10	5979147	5979147	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:5979147C>T	ENST00000379999.5	+	22	3293	c.3189C>T	c.(3187-3189)ttC>ttT	p.F1063F	RP11-536K7.3_ENST00000397264.3_RNA|FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000397269.3_Silent_p.F516F|FBXO18_ENST00000362091.4_Silent_p.F1012F	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1012					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCCTGGCGTTCCTGACAGCCT	0.632000													17	22					0	0	0.006122	0	0
COL13A1	1305	broad.mit.edu	37	10	71582174	71582174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:71582174C>T	ENST00000356340.3	+	2	880	c.344C>T	c.(343-345)cCa>cTa	p.P115L	COL13A1_ENST00000520267.1_Missense_Mutation_p.P115L|COL13A1_ENST00000517713.1_Missense_Mutation_p.P115L|COL13A1_ENST00000520133.1_Missense_Mutation_p.P115L|COL13A1_ENST00000398964.3_Missense_Mutation_p.P115L|COL13A1_ENST00000398972.3_Missense_Mutation_p.P115L|COL13A1_ENST00000357811.3_Missense_Mutation_p.P115L|COL13A1_ENST00000398973.3_Missense_Mutation_p.P115L|COL13A1_ENST00000522165.1_Missense_Mutation_p.P115L|COL13A1_ENST00000398966.3_Missense_Mutation_p.P115L|COL13A1_ENST00000398968.3_Missense_Mutation_p.P115L|COL13A1_ENST00000398974.3_Missense_Mutation_p.P115L|COL13A1_ENST00000398971.3_Missense_Mutation_p.P115L|COL13A1_ENST00000354547.3_Missense_Mutation_p.P115L|COL13A1_ENST00000398969.3_Missense_Mutation_p.P115L|COL13A1_ENST00000398978.3_Missense_Mutation_p.P115L			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	115	Nonhelical region 1 (NC1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAGACATCTCCAGGATGTAAC	0.562000													4	6					0	0	0.000602	0	0
SH3RF2	153769	broad.mit.edu	37	5	145428695	145428695	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:145428695G>A	ENST00000511217.1	+	6	1261	c.1209G>A	c.(1207-1209)aaG>aaA	p.K403K	SH3RF2_ENST00000359120.4_Silent_p.K403K			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	403	SH3 3.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGCAAAAGGGAGAAGGCG	0.597000											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	25					0	0	0.006122	0	0
TTI1	9675	broad.mit.edu	37	20	36640256	36640256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:36640256G>A	ENST00000373448.2	-	3	2201	c.1963C>T	c.(1963-1965)Cca>Tca	p.P655S	TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.P655S|TTI1_ENST00000449821.1_Missense_Mutation_p.P655S	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	655							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCCAGTACTGGATAAAGGGCT	0.483000													45	37					0	0	0.014410	0	0
C6	729	broad.mit.edu	37	5	41181563	41181563	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:41181563C>T	ENST00000263413.3	-	7	1089	c.825G>A	c.(823-825)ggG>ggA	p.G275G	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.G275G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	275	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.G275G(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAGAGCTCCCCCCCTGACTTG	0.378000													24	30					0	0	0.002780	0	0
DCC	1630	broad.mit.edu	37	18	50929237	50929237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:50929237C>T	ENST00000442544.2	+	19	3525	c.2909C>T	c.(2908-2910)cCc>cTc	p.P970L	DCC_ENST00000412726.1_Missense_Mutation_p.P798L|DCC_ENST00000581580.1_Missense_Mutation_p.P605L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	970	Fibronectin type-III 6.				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)		TGGCAGCCTCCCTTGGAAGCC	0.522000													38	76					0	0	0.013114	0	0
DNAH5	1767	broad.mit.edu	37	5	13729620	13729620	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:13729620C>T	ENST00000265104.4	-	69	11915	c.11811G>A	c.(11809-11811)tgG>tgA	p.W3937*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3937					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.W3937*(1)		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)					TGTCCAGGATCCATTTTGATG	0.368000									Kartagener syndrome				27	31					0	0	0.013726	0	0
PREX2	80243	broad.mit.edu	37	8	69002860	69002860	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:69002860C>T	ENST00000288368.4	+	20	2437	c.2160C>T	c.(2158-2160)atC>atT	p.I720I	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	720	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGTGCATTATCAAGGTGAATG	0.443000													22	27					0	0	0.003954	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846096	18846096	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:18846096G>A	ENST00000412938.1	+	0	3454																											CCATGCCTCGGCGCTCGATCT	0.627000													5	23					0	0	0.003080	0	0
PRELID2	153768	broad.mit.edu	37	5	145176046	145176046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:145176046C>T	ENST00000334744.4	-	6	521	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	PRELID2_ENST00000505416.1_Missense_Mutation_p.E145K|PRELID2_ENST00000510594.1_5'UTR|PRELID2_ENST00000358004.2_Missense_Mutation_p.E145K|PRELID2_ENST00000511435.1_Missense_Mutation_p.E145K|PRELID2_ENST00000394450.2_Missense_Mutation_p.E116K	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	157	PRELI/MSF1.									endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAAAAGTTTCTAAAACACAG	0.363000													19	23					0	0	0.014323	0	0
POU1F1	5449	broad.mit.edu	37	3	87313585	87313585	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:87313585G>A	ENST00000350375.2	-	3	416	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	POU1F1_ENST00000560656.1_Silent_p.L98L|POU1F1_ENST00000344265.3_Silent_p.L124L	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	98					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TCCTCTGCCAGAAGAGGCTGG	0.433000													12	41					0	0	0.001855	0	0
CBS	875	broad.mit.edu	37	21	44485800	44485800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:44485800C>T	ENST00000398165.3	-	6	716	c.457G>A	c.(457-459)Ggg>Agg	p.G153R	CBS_ENST00000352178.5_Missense_Mutation_p.G153R|CBS_ENST00000398168.1_Missense_Mutation_p.G153R|CBS_ENST00000544202.1_Missense_Mutation_p.G65R|CBS_ENST00000359624.3_Missense_Mutation_p.G153R|CBS_ENST00000398158.1_Missense_Mutation_p.G153R	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	153			Missing (in CBSD).		cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	AGGGCCAGCCCGATCCCTGAG	0.701000													14	16					0	0	0.001855	0	0
LST1	7940	broad.mit.edu	37	6	31555456	31555456	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:31555456C>T	ENST00000438075.2	+	3	295	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	LST1_ENST00000303757.8_Silent_p.L20L|LST1_ENST00000376111.4_5'UTR|LST1_ENST00000376096.1_Intron|LST1_ENST00000211921.7_Intron|LST1_ENST00000339530.4_Silent_p.L20L|LST1_ENST00000419073.1_3'UTR|LST1_ENST00000376110.3_Intron|LST1_ENST00000376090.2_Intron|LST1_ENST00000376086.3_Intron|LST1_ENST00000376089.2_Intron|LST1_ENST00000376100.3_Intron|LST1_ENST00000376093.2_Silent_p.L20L|LST1_ENST00000418507.2_Intron|LST1_ENST00000376102.3_Silent_p.S14S|LST1_ENST00000376092.3_Intron|LST1_ENST00000376099.1_Intron|LST1_ENST00000396101.3_Silent_p.L20L	NM_205839.2	NP_995311.2	O00453	LST1_HUMAN	leukocyte specific transcript 1	20					cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding			large_intestine(1)	1						GGGCGGGCTCCTGCTTCTGGC	0.627000													7	8					0	0	0.004482	0	0
PLCB3	5331	broad.mit.edu	37	11	64028931	64028931	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:64028931C>T	ENST00000540288.1	+	15	1894	c.1791C>T	c.(1789-1791)atC>atT	p.I597I	PLCB3_ENST00000279230.6_Silent_p.I597I|PLCB3_ENST00000325234.5_Silent_p.I530I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	597	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TCAACTACATCGAACCTGTCA	0.617000													19	36					0	0	0.008871	0	0
KDM4B	23030	broad.mit.edu	37	19	5077385	5077385	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:5077385C>T	ENST00000159111.4	+	8	902	c.684C>T	c.(682-684)ttC>ttT	p.F228F	KDM4B_ENST00000536461.1_Silent_p.F228F|KDM4B_ENST00000381759.4_Silent_p.F228F|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	228	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TAGGCTTCTTCCCCGGGAGCT	0.647000													48	87					0	0	0.014410	0	0
SYNE2	23224	broad.mit.edu	37	14	64408666	64408666	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:64408666C>T	ENST00000358025.3	+	5	531	c.301C>T	c.(301-303)Cta>Tta	p.L101L	SYNE2_ENST00000341472.5_Silent_p.L101L|SYNE2_ENST00000356081.3_Silent_p.L101L|SYNE2_ENST00000344113.4_Silent_p.L101L|SYNE2_ENST00000554584.1_Silent_p.L101L|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	101	Actin-binding.|CH 1.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			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)		CTTGACATTCCTAAGAAACCG	0.333000													18	1					0	0	0.008871	0	0
KIAA0100	9703	broad.mit.edu	37	17	26969291	26969291	+	Splice_Site	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:26969291A>G	ENST00000528896.2	-	6	651		c.e6+1		KIAA0100_ENST00000544884.1_Splice_Site|KIAA0100_ENST00000389003.3_Splice_Site	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGGCATACTTACCAGCTGACC	0.458000													7	24					0	0	0.003080	0	0
UBE2E2	7325	broad.mit.edu	37	3	23574145	23574145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:23574145C>T	ENST00000396703.1	+	5	641	c.461C>T	c.(460-462)tCt>tTt	p.S154F	UBE2E2_ENST00000425792.1_Missense_Mutation_p.S154F	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	154					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						TTAACTATTTCTAAAGTTCTC	0.388000													33	16					0	0	0.004289	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274237	103274237	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:103274237G>A	ENST00000233969.2	+	2	646	c.504G>A	c.(502-504)acG>acA	p.T168T		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	168						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACATTGGCACGATTTTCTGGT	0.488000													103	68					0	0	0.014410	0	0
VWA2	340706	broad.mit.edu	37	10	116048977	116048977	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:116048977C>T	ENST00000603594.1	+	12	2172	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	VWA2_ENST00000392982.3_Silent_p.I617I	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	617	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TGCTGCACATCTATGACAAAG	0.667000													9	15					0	0	0.004482	0	0
DOCK3	1795	broad.mit.edu	37	3	51378771	51378771	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:51378771G>A	ENST00000266037.9	+	38	3893	c.3870G>A	c.(3868-3870)aaG>aaA	p.K1290K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1290	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCAGCGGAAGGAGGGACTGT	0.547000													9	10					0	0	0.008291	0	0
PPM1F	9647	broad.mit.edu	37	22	22277639	22277639	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:22277639G>A	ENST00000407142.1	-	6	1747	c.687C>T	c.(685-687)gcC>gcT	p.A229A	PPM1F_ENST00000538191.1_Silent_p.A293A|PPM1F_ENST00000263212.5_Silent_p.A397A			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	397					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CCCGCTCCCGGGCCGCAGCCA	0.687000													23	27					0	0	0.004656	0	0
SLIT2	9353	broad.mit.edu	37	4	20525790	20525790	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:20525790C>T	ENST00000504154.1	+	14	1680	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	SLIT2_ENST00000503823.1_Silent_p.F476F|SLIT2_ENST00000273739.5_Silent_p.F480F|SLIT2_ENST00000503837.1_Silent_p.F480F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	476	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCAAGAAATTCCGTTGTTCAG	0.473000													25	38					0	0	0.004656	0	0
C3orf67	200844	broad.mit.edu	37	3	58870414	58870414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:58870414G>A	ENST00000295966.7	-	7	700	c.197C>T	c.(196-198)tCa>tTa	p.S66L	RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.S66L|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000472469.1_5'UTR	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	66										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTCATCTGTTGAAAAGGGAAC	0.368000													14	27					0	0	0.003163	0	0
MXRA5	25878	broad.mit.edu	37	X	3239541	3239541	+	Silent	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:3239541T>A	ENST00000217939.6	-	5	4339	c.4185A>T	c.(4183-4185)atA>atT	p.I1395I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1395						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGTAACAGGTATGCCTGTCT	0.493000													14	1					0	0	0.004007	0	0
SOGA2	23255	broad.mit.edu	37	18	8784364	8784364	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:8784364G>A	ENST00000359865.3	+	6	1396	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	SOGA2_ENST00000306329.11_Silent_p.S778S|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Silent_p.S418S|SOGA2_ENST00000517570.1_Silent_p.S418S	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	769																	AGAGTGACTCGGAGGAAATGT	0.662000													13	34					0	0	0.006122	0	0
WNK2	65268	broad.mit.edu	37	9	96024151	96024151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:96024151C>T	ENST00000297954.4	+	12	3122	c.3122C>T	c.(3121-3123)aCc>aTc	p.T1041I	WNK2_ENST00000349097.3_Missense_Mutation_p.T653I|WNK2_ENST00000427277.2_Missense_Mutation_p.T653I|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.T1041I|WNK2_ENST00000395475.2_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1041					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAGGTCCCCACCGTGCCTGTG	0.701000													11	30					0	0	0.008291	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958403	57958403	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:57958403G>A	ENST00000311591.3	+	1	498	c.441G>A	c.(439-441)ggG>ggA	p.G147G		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TAGTCACTGGGGCTTACGTTG	0.522000													16	34					0	0	0.004990	0	0
FAM71A	149647	broad.mit.edu	37	1	212799310	212799310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:212799310G>A	ENST00000294829.3	+	1	1522	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	364	Ala-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGCCTTTCCCGAGAGGGCAGT	0.612000													28	19					0	0	0.006320	0	0
MAMSTR	284358	broad.mit.edu	37	19	49216676	49216676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:49216676G>A	ENST00000318083.6	-	10	1159	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	MAMSTR_ENST00000594582.1_Missense_Mutation_p.P198S|MAMSTR_ENST00000419611.1_Missense_Mutation_p.P263S|MAMSTR_ENST00000356751.4_Missense_Mutation_p.P263S|MAMSTR_ENST00000377367.3_Missense_Mutation_p.P198S			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	366	Pro-rich.|Ser-rich.|Transcription activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						GGGTCCCTGGGAGAAGGGGAG	0.647000											OREG0025608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	18					0	0	0.001855	0	0
FCRL5	83416	broad.mit.edu	37	1	157497524	157497524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:157497524C>T	ENST00000361835.3	-	9	2000	c.1843G>A	c.(1843-1845)Gga>Aga	p.G615R	FCRL5_ENST00000368191.3_Missense_Mutation_p.G530R|FCRL5_ENST00000356953.4_Missense_Mutation_p.G615R|FCRL5_ENST00000368190.3_Missense_Mutation_p.G615R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	615	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCTTCTCCTCCAGAGGGGGCT	0.547000													46	17					0	0	0.013114	0	0
FBXO11	80204	broad.mit.edu	37	2	48036402	48036402	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:48036402T>A	ENST00000403359.3	-	21	2522	c.2450A>T	c.(2449-2451)aAc>aTc	p.N817I	FBXO11_ENST00000402508.1_Missense_Mutation_p.N733I|FBXO11_ENST00000316377.4_Missense_Mutation_p.N733I|FBXO11_ENST00000434523.2_Missense_Mutation_p.N241I	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	817					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATTATTTTGTTATCTGTAAT	0.279000			"""Mis, F, D"""		DLBCL								20	29					0	0	0.008871	0	0
AMTN	401138	broad.mit.edu	37	4	71397009	71397009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:71397009C>T	ENST00000339336.4	+	8	741	c.611C>T	c.(610-612)tCa>tTa	p.S204L	AMTN_ENST00000504451.1_Missense_Mutation_p.S203L	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	204					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			ACCACAGAATCAGCAAATGGT	0.493000													9	20					0	0	0.006214	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125405377	125405377	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:125405377T>A	ENST00000431078.1	+	13	2280	c.1916T>A	c.(1915-1917)cTg>cAg	p.L639Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	639	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AATACAGAGCTGACCCGAGTG	0.552000													5	8					0	0	0.001168	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822140	43822140	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:43822140C>T	ENST00000389420.3	-	26	3848	c.3849G>A	c.(3847-3849)acG>acA	p.T1283T	ADAMTS20_ENST00000395541.2_Silent_p.T401T|ADAMTS20_ENST00000553158.1_Silent_p.T1283T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1283						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATGGCAAATTCGTGCTTAGAT	0.483000													34	20					0	0	0.013726	0	0
FMO3	2328	broad.mit.edu	37	1	171086468	171086468	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:171086468A>G	ENST00000367755.4	+	9	1596	c.1485A>G	c.(1483-1485)aaA>aaG	p.K495K	FMO3_ENST00000392085.2_Silent_p.K495K|FMO3_ENST00000542847.1_Silent_p.K475K|FMO3_ENST00000538429.1_Silent_p.K432K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	495					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTCGTTGAAACCCATGCAGA	0.522000													7	33					0	0	0.003080	0	0
C16orf59	80178	broad.mit.edu	37	16	2512234	2512234	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:2512234G>A	ENST00000569496.1	+	6	803	c.744G>A	c.(742-744)caG>caA	p.Q248Q	C16orf59_ENST00000483320.1_Silent_p.Q81Q|C16orf59_ENST00000361837.4_Silent_p.Q248Q|C16orf59_ENST00000563531.1_Silent_p.Q248Q			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	248										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				AGAACATGCAGACAGCTGTAT	0.632000													25	23					0	0	0.004656	0	0
HSD17B7	51478	broad.mit.edu	37	1	162774082	162774082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:162774082C>T	ENST00000367917.3	+	6	736	c.668C>T	c.(667-669)aCt>aTt	p.T223I	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.T258I			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	258					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	AATGCATTCACTTTGACACCA	0.328000													18	8					0	0	0.010504	0	0
PRB2	653247	broad.mit.edu	37	12	11546330	11546330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:11546330C>T	ENST00000389362.4	-	3	717	c.682G>A	c.(682-684)Gga>Aga	p.G228R	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											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)			TTGTTGTCTCCTTGTGGGGGT	0.617000													58	104					0	0	0.014410	0	0
GALNT15	117248	broad.mit.edu	37	3	16237354	16237354	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:16237354G>A	ENST00000339732.5	+	2	1130	c.627G>A	c.(625-627)cgG>cgA	p.R209R	GALNT15_ENST00000437509.1_Silent_p.R209R	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CTCTCCTGCGGACTGTACACA	0.607000													12	28					0	0	0.001855	0	0
MALAT1	378938	broad.mit.edu	37	11	65272161	65272161	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:65272161C>T	ENST00000534336.1	+	0	6929					NR_002819.2																						AAGAAACATTCCAAACAAGCA	0.378000													18	23					0	0	0.006122	0	0
SVOP	55530	broad.mit.edu	37	12	109316514	109316514	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:109316514C>T	ENST00000299134.5	-	10	911	c.912G>A	c.(910-912)gtG>gtA	p.V304V		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						TAATCCTCCTCACTCAGGTAC	0.552000													5	4					0	0	0.003080	0	0
CCDC47	57003	broad.mit.edu	37	17	61833897	61833897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:61833897C>T	ENST00000225726.5	-	7	1151	c.769G>A	c.(769-771)Gat>Aat	p.D257N	CCDC47_ENST00000582252.1_Missense_Mutation_p.D257N|CCDC47_ENST00000403162.3_Missense_Mutation_p.D257N	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	257						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ACGTAGGTATCCATGTCTTCA	0.368000													20	25					0	0	0.010504	0	0
ZNF423	23090	broad.mit.edu	37	16	49671485	49671485	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:49671485G>A	ENST00000561648.1	-	4	1631	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	ZNF423_ENST00000567169.1_Silent_p.F409F|ZNF423_ENST00000535559.1_Silent_p.F409F|ZNF423_ENST00000562520.1_Silent_p.F466F|ZNF423_ENST00000563137.2_Silent_p.F466F|ZNF423_ENST00000262383.2_Silent_p.F526F|ZNF423_ENST00000562871.1_Silent_p.F466F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	526					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACTCAGTAAGGAAACCCATGG	0.592000													26	1					0	0	0.004656	0	0
ZNF733P	643955	broad.mit.edu	37	7	62751990	62751990	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:62751990G>A	ENST00000331425.6	-	0	1445					NR_003952.1																						CACATTTGTAGGGTTTCTCTC	0.388000													5	11					0	0	0.001984	0	0
B9D2	80776	broad.mit.edu	37	19	41863860	41863860	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41863860C>T	ENST00000243578.3	-	3	375	c.156G>A	c.(154-156)ggG>ggA	p.G52G	TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000539627.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	52	B9.				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			large_intestine(1)|ovary(1)	2						AAGCCATGTCCCCTATCTGCG	0.642000													17	24					0	0	0.008871	0	0
MYCBP2	23077	broad.mit.edu	37	13	77799638	77799638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:77799638G>A	ENST00000407578.2	-	19	3055	c.2789C>T	c.(2788-2790)cCt>cTt	p.P930L	MYCBP2_ENST00000544440.2_Missense_Mutation_p.P892L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.P892L|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	892					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGAGCCTGGAGGGTATGTTGT	0.448000													13	17					0	0	0.001855	0	0
GRIK1	2897	broad.mit.edu	37	21	30934004	30934004	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:30934004T>C	ENST00000399914.1	-	14	2773	c.2252A>G	c.(2251-2253)aAc>aGc	p.N751S	GRIK1_ENST00000389124.2_Missense_Mutation_p.N766S|GRIK1_ENST00000399907.1_Missense_Mutation_p.N766S|GRIK1_ENST00000535441.1_Missense_Mutation_p.N768S|GRIK1_ENST00000309434.7_Missense_Mutation_p.N768S|GRIK1_ENST00000399909.1_Missense_Mutation_p.N751S|GRIK1_ENST00000399913.1_Missense_Mutation_p.N766S|GRIK1_ENST00000327783.4_Missense_Mutation_p.N766S|GRIK1_ENST00000389125.3_Missense_Mutation_p.N751S			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	766					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)	CTGAGTGAGGTTGCAGTTTCT	0.507000													25	35					0	0	0.007291	0	0
MYH1	4619	broad.mit.edu	37	17	10412913	10412913	+	Silent	SNP	G	G	A	rs141597159		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10412913G>A	ENST00000226207.5	-	15	1570	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	492	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.F492F(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTGGTGGTTGAAAAACTGTT	0.443000													24	50					0	0	0.007291	0	0
FMN2	56776	broad.mit.edu	37	1	240256545	240256545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:240256545G>A	ENST00000319653.9	+	1	1366	c.1136G>A	c.(1135-1137)gGg>gAg	p.G379E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	379					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)			CAGAGGCTGGGGGAAGAGCCG	0.726000													11	1					0	0	0.008291	0	0
LATS1	9113	broad.mit.edu	37	6	150022976	150022976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:150022976C>T	ENST00000543571.1	-	2	834	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	LATS1_ENST00000392273.3_Missense_Mutation_p.R96Q|LATS1_ENST00000253339.5_Missense_Mutation_p.R96Q|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	96			R -> W (in dbSNP:rs55945045).		cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.R96L(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGAAGTACTCCGAGAAGAATT	0.388000													36	70					0	0	0.006230	0	0
CSMD2	114784	broad.mit.edu	37	1	34080109	34080109	+	Missense_Mutation	SNP	C	C	T	rs142457038		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:34080109C>T	ENST00000373381.4	-	40	6304	c.6128G>A	c.(6127-6129)gGc>gAc	p.G2043D	CSMD2_ENST00000373388.2_Missense_Mutation_p.G142D|CSMD2_ENST00000373380.1_Missense_Mutation_p.G916D|CSMD2_ENST00000373377.1_Missense_Mutation_p.G142D	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2003	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTACCAAAGCCCACGGGCAG	0.557000													7	16					0	0	0.004482	0	0
LAMA2	3908	broad.mit.edu	37	6	129813188	129813188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:129813188G>A	ENST00000421865.2	+	57	8090	c.8041G>A	c.(8041-8043)Gaa>Aaa	p.E2681K	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2681	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCTCCTTTTGAAGGCTGCAT	0.383000													18	26					0	0	0.010504	0	0
TP53BP1	7158	broad.mit.edu	37	15	43762101	43762101	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:43762101G>A	ENST00000263801.3	-	11	1581	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	TP53BP1_ENST00000382039.3_Silent_p.F448F|TP53BP1_ENST00000450115.2_Silent_p.F448F|TP53BP1_ENST00000382044.4_Silent_p.F448F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	443					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACCCAGGAGGGAAGACTGGTG	0.448000								Other conserved DNA damage response genes					43	62					0	0	0.014410	0	0
TTC21A	199223	broad.mit.edu	37	3	39156156	39156156	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:39156156C>T	ENST00000301819.6	+	6	816	c.639C>T	c.(637-639)ttC>ttT	p.F213F	TTC21A_ENST00000440121.1_Silent_p.F172F|TTC21A_ENST00000431162.2_Silent_p.F213F	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	213							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGGGAGCTTCCTGCCAGCCC	0.542000													11	34					0	0	0.008291	0	0
PARP8	79668	broad.mit.edu	37	5	50117067	50117067	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:50117067C>T	ENST00000281631.5	+	16	1847	c.1689C>T	c.(1687-1689)tcC>tcT	p.S563S	PARP8_ENST00000505697.2_Silent_p.S563S|PARP8_ENST00000514342.2_Intron|PARP8_ENST00000514067.2_Intron|PARP8_ENST00000503750.2_Intron|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Silent_p.S542S	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	563						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TACTAGTATCCATGTGTAGGT	0.418000													29	25					0	0	0.007291	0	0
RBM33	155435	broad.mit.edu	37	7	155537941	155537941	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:155537941T>G	ENST00000401878.3	+	14	2822	c.2624T>G	c.(2623-2625)cTt>cGt	p.L875R		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	875							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AACAGACTTCTTGTTAAAAAC	0.458000													12	10					0	0	0.004007	0	0
FBXW10	10517	broad.mit.edu	37	17	18682579	18682579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:18682579G>A	ENST00000308799.4	+	12	3373	c.3154G>A	c.(3154-3156)Gcc>Acc	p.A1052T	FBXW10_ENST00000301938.4_Missense_Mutation_p.A990T|FBXW10_ENST00000395667.1_Missense_Mutation_p.A1042T|FBXW10_ENST00000395665.4_Missense_Mutation_p.A1043T			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	1043										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GAAAACAGCGGCCCCTGAACT	0.428000													17	0					0	0	0.004007	0	0
ADCK1	57143	broad.mit.edu	37	14	78365484	78365484	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:78365484G>A	ENST00000238561.5	+	6	723	c.624G>A	c.(622-624)gaG>gaA	p.E208E	ADCK1_ENST00000341211.5_Silent_p.E140E	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	215	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CAGAGTTTGAGTTTATGTGGC	0.512000													64	74					0	0	0.014410	0	0
CASD1	64921	broad.mit.edu	37	7	94164815	94164815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:94164815C>T	ENST00000297273.4	+	8	1110	c.823C>T	c.(823-825)Cct>Tct	p.P275S		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	275						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTACATCTTCCTGAATCGAG	0.328000													21	32					0	0	0.003330	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271468	26271468	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:26271468G>A	ENST00000305910.3	-	1	144	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	49					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						ATCTCGCGCAGAGCCACGGTG	0.627000													20	16					0	0	0.007413	0	0
LMO7	4008	broad.mit.edu	37	13	76414233	76414233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:76414233C>T	ENST00000357063.3	+	22	4880	c.3620C>T	c.(3619-3621)tCg>tTg	p.S1207L	LMO7_ENST00000341547.4_Missense_Mutation_p.S873L|LMO7_ENST00000465261.2_Missense_Mutation_p.S922L|LMO7_ENST00000321797.8_Missense_Mutation_p.S922L|LMO7_ENST00000377534.3_Missense_Mutation_p.S1207L|LMO7_ENST00000526202.1_Missense_Mutation_p.S799L			Q8WWI1	LMO7_HUMAN	LIM domain 7	1207						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGCTCTGATTCGGTGGTTCCT	0.373000													48	46					0	0	0.014410	0	0
SYT1	6857	broad.mit.edu	37	12	79611463	79611463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:79611463C>T	ENST00000261205.4	+	4	821	c.164C>T	c.(163-165)cCa>cTa	p.P55L	SYT1_ENST00000393240.3_Missense_Mutation_p.P55L|SYT1_ENST00000552744.1_Missense_Mutation_p.P55L|SYT1_ENST00000457153.2_Missense_Mutation_p.P55L	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	55					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CATAAAATTCCATGTGAGTAT	0.373000													8	32					0	0	0.006214	0	0
QSOX1	5768	broad.mit.edu	37	1	180165467	180165467	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:180165467C>G	ENST00000367602.3	+	12	1613	c.1539C>G	c.(1537-1539)caC>caG	p.H513Q	QSOX1_ENST00000367600.5_Missense_Mutation_p.H513Q			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	513					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCCTGCCACAATGAACGCC	0.607000													33	104					0	0	0.004289	0	0
SERPINI1	5274	broad.mit.edu	37	3	167507097	167507097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:167507097G>A	ENST00000295777.5	+	2	612	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	SERPINI1_ENST00000446050.2_Missense_Mutation_p.E61K	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	61					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GGGAATGATGGAACTTGGGGC	0.413000													7	32					0	0	0.004482	0	0
PTPN23	25930	broad.mit.edu	37	3	47453313	47453313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:47453313C>T	ENST00000265562.4	+	21	4006	c.3929C>T	c.(3928-3930)cCc>cTc	p.P1310L	PTPN23_ENST00000431726.1_Missense_Mutation_p.P1184L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1310	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGGCCAGCCCATGGTGCAC	0.632000													26	13					0	0	0.009535	0	0
PRADC1	84279	broad.mit.edu	37	2	73456686	73456686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:73456686C>T	ENST00000258083.2	-	3	248	c.181G>A	c.(181-183)Gag>Aag	p.E61K	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	61						extracellular region				endometrium(1)|large_intestine(1)|lung(2)	4						TGAATCTGCTCATACCTTGTG	0.507000													32	35					0	0	0.012213	0	0
HSPA2	3306	broad.mit.edu	37	14	65008860	65008860	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:65008860C>T	ENST00000247207.6	+	1	1675	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	HSPA2_ENST00000394709.1_Silent_p.F431F	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	431					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGCAGACCTTCACCACCTACT	0.587000													21	5					0	0	0.002780	0	0
PCNXL2	80003	broad.mit.edu	37	1	233393996	233393996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:233393996C>T	ENST00000258229.8	-	5	1846	c.1612G>A	c.(1612-1614)Gat>Aat	p.D538N	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	538						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AAGAAGACATCTGTCCCACTG	0.473000													24	12					0	0	0.003330	0	0
DCC	1630	broad.mit.edu	37	18	50589699	50589699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:50589699C>T	ENST00000442544.2	+	6	1626	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L	DCC_ENST00000412726.1_Missense_Mutation_p.P185L|DCC_ENST00000581580.1_5'UTR|DCC_ENST00000580146.1_3'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	337	Ig-like C2-type 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)		TTAAATCATCCTTCCAACCTG	0.438000													26	26					0	0	0.004656	0	0
POTEG	404785	broad.mit.edu	37	14	19563534	19563534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:19563534C>T	ENST00000409832.3	+	5	1100	c.1048C>T	c.(1048-1050)Cat>Tat	p.H350Y	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	350										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTCTAGTCATCATAATGTGTA	0.348000													35	58					0	0	0.006230	0	0
SPATA21	374955	broad.mit.edu	37	1	16736285	16736285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:16736285G>A	ENST00000335496.1	-	6	880	c.398C>T	c.(397-399)tCg>tTg	p.S133L	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.S110L	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	133	Pro-rich.						calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GGCAGGGACCGAGGCAGGGGT	0.721000													18	4					0	0	0.008871	0	0
MPP7	143098	broad.mit.edu	37	10	28409238	28409238	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:28409238T>G	ENST00000337532.5	-	11	1048	c.772A>C	c.(772-774)Aag>Cag	p.K258Q	MPP7_ENST00000375732.1_Missense_Mutation_p.K258Q|MPP7_ENST00000375719.3_Missense_Mutation_p.K258Q|MPP7_ENST00000540098.1_Missense_Mutation_p.K258Q|MPP7_ENST00000445954.2_Missense_Mutation_p.K133Q	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	258	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ATATCTCCCTTTTTGAAAGAA	0.428000													30	35					0	0	0.006999	0	0
FCRLA	84824	broad.mit.edu	37	1	161681133	161681133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:161681133G>A	ENST00000540926.1	+	4	679	c.386G>A	c.(385-387)gGg>gAg	p.G129E	FCRLA_ENST00000349527.4_Missense_Mutation_p.G123E|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.G140E|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367953.3_Missense_Mutation_p.G129E|FCRLA_ENST00000367959.2_Missense_Mutation_p.G146E			Q7L513	FCRLA_HUMAN	Fc receptor-like A	123	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GGTCCCCCCGGGCCTAACAGG	0.602000													4	28					0	0	0.009096	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603457	48603457	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:48603457G>A	ENST00000323776.5	+	14	2289	c.2127G>A	c.(2125-2127)agG>agA	p.R709R	MYCBPAP_ENST00000436259.2_Silent_p.R672R	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	672					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGGCCCTCAGGGAATCCGGGT	0.587000													14	21					0	0	0.001855	0	0
LRP1	4035	broad.mit.edu	37	12	57593717	57593717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:57593717C>T	ENST00000243077.3	+	62	10389	c.9923C>T	c.(9922-9924)tCc>tTc	p.S3308F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3308	EGF-like 13.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCCTGCTGTCCCCCGGGGGA	0.597000													28	16					0	0	0.008361	0	0
CCDC54	84692	broad.mit.edu	37	3	107097197	107097197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:107097197C>T	ENST00000261058.1	+	1	1010	c.763C>T	c.(763-765)Cat>Tat	p.H255Y		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	255										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						AACTTTTGTTCATGGAGGAAA	0.403000													33	30					0	0	0.003755	0	0
DNAH9	1770	broad.mit.edu	37	17	11511509	11511509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:11511509G>A	ENST00000262442.3	+	2	549	c.481G>A	c.(481-483)Gat>Aat	p.D161N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D161N|DNAH9_ENST00000579828.1_Missense_Mutation_p.D161N|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	161	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATATGTGAGGATGTCAGGCG	0.512000													38	89					0	0	0.008740	0	0
CAGE1	285782	broad.mit.edu	37	6	7373394	7373394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:7373394C>T	ENST00000502583.1	-	5	2222	c.1658G>A	c.(1657-1659)aGg>aAg	p.R553K	CAGE1_ENST00000338150.4_Missense_Mutation_p.R553K|CAGE1_ENST00000296742.7_Missense_Mutation_p.R417K|CAGE1_ENST00000512086.1_Missense_Mutation_p.R553K|CAGE1_ENST00000379918.4_Missense_Mutation_p.R553K	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	553										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTCTTCACTCCTTGCAACCTG	0.338000													9	25					0	0	0.004482	0	0
RLF	6018	broad.mit.edu	37	1	40701717	40701717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:40701717C>T	ENST00000372771.4	+	8	1370	c.1343C>T	c.(1342-1344)cCa>cTa	p.P448L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	448					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCACCGGTTCCAAATTCTCTT	0.373000													77	34					0	0	0.014410	0	0
CACNG3	10368	broad.mit.edu	37	16	24372924	24372924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:24372924C>T	ENST00000005284.3	+	4	1890	c.688C>T	c.(688-690)Cga>Tga	p.R230*		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	230					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTACAGGTATCGATTCCGGAG	0.537000													23	17					0	0	0.002780	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629771	122629771	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:122629771C>T	ENST00000357599.3	-	22	3599	c.3213G>A	c.(3211-3213)ctG>ctA	p.L1071L	SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Silent_p.L1125L	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1071					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGGATGGACCAGTGTGGACT	0.577000													32	21					0	0	0.004878	0	0
GABRQ	55879	broad.mit.edu	37	X	151821286	151821286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:151821286G>A	ENST00000370306.2	+	9	1461	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	481						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.E481K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCCTACCGAAATCCGCAA	0.547000													77	5					0	0	0.014410	0	0
MMP1	4312	broad.mit.edu	37	11	102661499	102661499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:102661499G>A	ENST00000315274.6	-	9	1302	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	412	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TATCATTTTGGGATAACCTGG	0.363000													21	23					0	0	0.003330	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702556	27702556	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:27702556G>A	ENST00000438700.3	-	1	741	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	208					spermatid development	integral to membrane	hedgehog receptor activity	p.F208F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GAAGCGAGACGAAATTGGCTT	0.632000													32	30					0	0	0.010818	0	0
MYOM1	8736	broad.mit.edu	37	18	3134663	3134663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:3134663G>A	ENST00000400569.3	-	16	2702	c.2369C>T	c.(2368-2370)cCc>cTc	p.P790L	MYOM1_ENST00000356443.4_Missense_Mutation_p.P790L|MYOM1_ENST00000261606.7_Missense_Mutation_p.P790L			P52179	MYOM1_HUMAN	myomesin 1	790	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCCTTCACGGGGTTGTTGTT	0.577000													7	19					0	0	0.003080	0	0
CXorf22	170063	broad.mit.edu	37	X	35974120	35974120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:35974120G>A	ENST00000297866.5	+	8	1283	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	406										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACAGGCACAGGACTTCCTGTT	0.358000													28	2					0	0	0.009535	0	0
TRAV22	28661	broad.mit.edu	37	14	22539424	22539424	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:22539424C>T	ENST00000390450.3	+	0	417																											TTGTACATTTCCTCTTCCCAG	0.527000													24	21					0	0	0.004656	0	0
DOCK6	57572	broad.mit.edu	37	19	11363581	11363581	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:11363581G>A	ENST00000294618.7	-	3	197	c.186C>T	c.(184-186)agC>agT	p.S62S		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	62					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CTGGTGGCCGGCTCAGAAGTA	0.607000													5	16					0	0	0.000602	0	0
VWF	7450	broad.mit.edu	37	12	6140679	6140679	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:6140679G>A	ENST00000261405.5	-	21	3005	c.2751C>T	c.(2749-2751)ccC>ccT	p.P917P		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	917	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATTTCACTGAGGGGTGGCTGC	0.547000													16	54					0	0	0.014323	0	0
SH3RF2	153769	broad.mit.edu	37	5	145428696	145428696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:145428696G>A	ENST00000511217.1	+	6	1262	c.1210G>A	c.(1210-1212)Gga>Aga	p.G404R	SH3RF2_ENST00000359120.4_Missense_Mutation_p.G404R			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	404	SH3 3.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCAAAAGGGAGAAGGCGT	0.592000											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	24					0	0	0.006122	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589843	140589843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140589843C>T	ENST00000239450.2	+	1	1553	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.S118F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		455					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACTTCCTACGCCCTG	0.612000													36	45					0	0	0.007835	0	0
TXNRD1	7296	broad.mit.edu	37	12	104742176	104742176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:104742176C>T	ENST00000526691.1	+	15	2089	c.1633C>T	c.(1633-1635)Ctc>Ttc	p.L545F	TXNRD1_ENST00000524698.1_Missense_Mutation_p.L493F|TXNRD1_ENST00000388854.3_Missense_Mutation_p.L545F|TXNRD1_ENST00000529546.1_Missense_Mutation_p.L455F|TXNRD1_ENST00000429002.2_Missense_Mutation_p.L643F|TXNRD1_ENST00000525566.1_Missense_Mutation_p.L643F|TXNRD1_ENST00000542918.1_Missense_Mutation_p.L543F|TXNRD1_ENST00000354940.6_Missense_Mutation_p.L493F|TXNRD1_ENST00000397736.2_Missense_Mutation_p.L537F|TXNRD1_ENST00000526950.1_Missense_Mutation_p.L562F|TXNRD1_ENST00000427956.1_Missense_Mutation_p.L608F|TXNRD1_ENST00000378070.4_3'UTR|TXNRD1_ENST00000526390.1_Missense_Mutation_p.L537F|TXNRD1_ENST00000503506.2_Missense_Mutation_p.L493F|TXNRD1_ENST00000540716.1_Missense_Mutation_p.L455F	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	643					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GGCAAGCATCCTCCAGGCTGG	0.522000													24	65					0	0	0.005443	0	0
FGFR2	2263	broad.mit.edu	37	10	123274827	123274827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:123274827C>T	ENST00000358487.5	-	9	1363	c.1091G>A	c.(1090-1092)gGa>gAa	p.G364E	FGFR2_ENST00000369059.1_Missense_Mutation_p.G250E|FGFR2_ENST00000356226.4_Missense_Mutation_p.G249E|FGFR2_ENST00000360144.3_Missense_Mutation_p.G276E|FGFR2_ENST00000346997.2_Missense_Mutation_p.G364E|FGFR2_ENST00000369061.4_Missense_Mutation_p.G252E|FGFR2_ENST00000351936.6_Missense_Mutation_p.G364E|FGFR2_ENST00000478859.1_Missense_Mutation_p.G136E|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.G365E|FGFR2_ENST00000369056.1_Missense_Mutation_p.G365E|FGFR2_ENST00000357555.5_Missense_Mutation_p.G275E	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	364					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTTTTCTCTTCCAGGCGCTAG	0.478000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				28	33					0	0	0.009535	0	0
TTC7B	145567	broad.mit.edu	37	14	91059966	91059966	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:91059966G>A	ENST00000357056.2	-	19	2143	c.2022C>T	c.(2020-2022)tcC>tcT	p.S674S	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Silent_p.S657S			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	657							binding	p.S657S(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TGGCATGGACGGAGCCTGTGA	0.577000													23	32					0	0	0.003954	0	0
PADI4	23569	broad.mit.edu	37	1	17690111	17690111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:17690111C>T	ENST00000375448.4	+	16	1879	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	618					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AAGGTGTGTTCCCTGCTGGAG	0.622000													4	15					0	0	0.009096	0	0
ACAP2	23527	broad.mit.edu	37	3	195028038	195028038	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:195028038C>T	ENST00000326793.6	-	12	1154	c.924G>A	c.(922-924)gtG>gtA	p.V308V		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	308	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CTTCAACTACCACAGTCGGAT	0.373000													46	26					0	0	0.014410	0	0
LILRA1	11024	broad.mit.edu	37	19	55106328	55106328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55106328G>A	ENST00000453777.1	+	4	439	c.269G>A	c.(268-270)tGg>tAg	p.W90*	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Nonsense_Mutation_p.W90*|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	90	Ig-like C2-type 1.				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)		TCCATCACCTGGGAACACACA	0.557000													26	45					0	0	0.009535	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144881446	144881446	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:144881446T>A	ENST00000369359.4	-	28	4199	c.4161A>T	c.(4159-4161)aaA>aaT	p.K1387N	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K1250N|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1250N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K1206N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1387N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1250					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TAACTCTGTATTTCTCCAGCT	0.413000			T	PDGFRB	MPD								23	137					0	0	0.003954	0	0
SETD2	29072	broad.mit.edu	37	3	47125362	47125362	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:47125362G>A	ENST00000409792.3	-	12	5950	c.5908C>T	c.(5908-5910)Cta>Tta	p.L1970L	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1970					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGTTCTTCTAGTTTTGTGCCG	0.433000			"""N, F, S, Mis"""		clear cell renal carcinoma								9	35					0	0	0.008291	0	0
DNAH10	196385	broad.mit.edu	37	12	124359953	124359953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:124359953C>T	ENST00000409039.3	+	46	7785	c.7760C>T	c.(7759-7761)tCg>tTg	p.S2587L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2587	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1179L(1)|p.S2587L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGATTTATTTCGCTATTCAGT	0.443000													13	28					0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9084598	9084598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9084598G>A	ENST00000397910.4	-	1	7420	c.7217C>T	c.(7216-7218)tCt>tTt	p.S2406F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2406	Ser-rich.|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						AGAGAAGAGAGATGGGGAGGA	0.468000													19	22					0	0	0.008871	0	0
CEP78	84131	broad.mit.edu	37	9	80881578	80881578	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:80881578C>G	ENST00000424347.2	+	15	2307	c.2018C>G	c.(2017-2019)tCc>tGc	p.S673C	CEP78_ENST00000415759.2_Missense_Mutation_p.S674C|CEP78_ENST00000376597.4_Missense_Mutation_p.S690C|CEP78_ENST00000376598.2_Missense_Mutation_p.S689C|CEP78_ENST00000277082.5_Missense_Mutation_p.S673C			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	673					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GAGGAGTTGTCCAGAAATAGC	0.428000													10	3					0	0	0.010729	0	0
SLC9A1	6548	broad.mit.edu	37	1	27432478	27432478	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:27432478G>A	ENST00000263980.3	-	5	1958	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	SLC9A1_ENST00000374086.3_Silent_p.I461I|SLC9A1_ENST00000545949.1_Silent_p.I122I	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	461					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GAGAGAAGGCGATGGCCCCTC	0.567000													22	21					0	0	0.012319	0	0
ICA1	3382	broad.mit.edu	37	7	8167582	8167582	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:8167582G>A	ENST00000402384.3	-	13	1517	c.1251C>T	c.(1249-1251)ccC>ccT	p.P417P	ICA1_ENST00000401396.1_Silent_p.P405P|ICA1_ENST00000406470.2_Silent_p.P417P|ICA1_ENST00000422063.2_Silent_p.P446P|ICA1_ENST00000265577.7_Silent_p.P416P|ICA1_ENST00000396675.3_Silent_p.P417P			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	417					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCTGGGCCTTGGGGTCTGGCT	0.552000													100	6					0	0	0.014410	0	0
IARS	3376	broad.mit.edu	37	9	95003199	95003199	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:95003199G>A	ENST00000375643.3	-	30	3488	c.3222C>T	c.(3220-3222)tcC>tcT	p.S1074S	IARS_ENST00000474340.1_5'UTR|IARS_ENST00000375627.1_Silent_p.S127S|IARS_ENST00000443024.2_Silent_p.S1074S|IARS_ENST00000375629.3_Silent_p.S127S|IARS_ENST00000447699.2_Silent_p.S964S	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1074					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GACCAGGAAGGGAAGATCCTC	0.423000													14	39					0	0	0.007413	0	0
CXorf22	170063	broad.mit.edu	37	X	35974119	35974119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:35974119G>A	ENST00000297866.5	+	8	1282	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	406										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GACAGGCACAGGACTTCCTGT	0.358000													28	2					0	0	0.009535	0	0
ESYT2	57488	broad.mit.edu	37	7	158531734	158531734	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:158531734G>A	ENST00000251527.5	-	18	2393	c.2328C>T	c.(2326-2328)atC>atT	p.I776I	ESYT2_ENST00000435514.2_Silent_p.I211I	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	804						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GCACGACCACGATAAGCTTGT	0.602000													26	45					0	0	0.009535	0	0
PSIP1	11168	broad.mit.edu	37	9	15469277	15469277	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:15469277T>C	ENST00000380733.4	-	12	1434	c.1091A>G	c.(1090-1092)aAa>aGa	p.K364R	PSIP1_ENST00000380738.4_Missense_Mutation_p.K364R			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	364					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	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		ATTATCAATTTTGAGTGAATT	0.274000													21	14					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179636169	179636169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179636169G>A	ENST00000589042.1	-	34	8109	c.7885C>T	c.(7885-7887)Cag>Tag	p.Q2629*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q2583*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q2583*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q2583*|TTN_ENST00000360870.5_Nonsense_Mutation_p.Q2629*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q2629*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q2629*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2365	Ig-like 15.						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)			GCTACGGTCTGATCTGTGAGT	0.463000													16	26					0	0	0.004007	0	0
RFX3	5991	broad.mit.edu	37	9	3266285	3266285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:3266285G>A	ENST00000382004.3	-	13	1689	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*	RFX3_ENST00000302303.1_Nonsense_Mutation_p.R460*|RFX3_ENST00000358730.2_Nonsense_Mutation_p.R460*	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	460					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GCAAAATTTCGAATGGCTTGG	0.328000													7	7					0	0	0.003080	0	0
LOXL3	84695	broad.mit.edu	37	2	74763572	74763572	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:74763572G>A	ENST00000264094.3	-	6	1010	c.939C>T	c.(937-939)gcC>gcT	p.A313A	LOXL3_ENST00000409249.1_Silent_p.A313A|LOXL3_ENST00000409549.1_Silent_p.A313A|LOXL3_ENST00000393937.2_Silent_p.A168A|LOXL3_ENST00000409986.1_Silent_p.A168A	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	313	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTCCAGGGTGGGCGCCGCCCT	0.617000													8	9					0	0	0.004482	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579977	140579977	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140579977C>T	ENST00000354757.3	+	1	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		210	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTCAGTTTCATCCTCTCTG	0.493000													19	17					0	0	0.008871	0	0
RIMS2	9699	broad.mit.edu	37	8	105161027	105161027	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:105161027C>T	ENST00000436393.2	+	23	3580	c.3339C>T	c.(3337-3339)atC>atT	p.I1113I	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	541					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTAGCTATCGTTGGTCTGT	0.483000										HNSCC(12;0.0054)			34	28					0	0	0.004289	0	0
EVX2	344191	broad.mit.edu	37	2	176947031	176947031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:176947031G>A	ENST00000308618.4	-	2	710	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		AACGCCGTACGGTAGCGCCGC	0.721000													4	4					0	0	0.009096	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465876	24465876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:24465876C>T	ENST00000382137.3	-	3	622	c.554G>A	c.(553-555)gGa>gAa	p.G185E	C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G185E|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	185	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCCTCGATCTCCTTTCCAGCC	0.567000													12	61					0	0	0.007413	0	0
SORCS3	22986	broad.mit.edu	37	10	106916913	106916913	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:106916913G>A	ENST00000369701.3	+	10	1727	c.1500G>A	c.(1498-1500)ggG>ggA	p.G500G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	500						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTATCAAAGGGATATTTCTGG	0.507000													20	36					0	0	0.014323	0	0
TFPI2	7980	broad.mit.edu	37	7	93516149	93516149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:93516149G>A	ENST00000222543.5	-	5	1003	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Missense_Mutation_p.R120W	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	231			R -> Q (in dbSNP:rs12669450).		blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TGCTTCTTCCGAATTTTCCGG	0.328000													44	48					0	0	0.014410	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486640	76486640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:76486640G>A	ENST00000307431.8	+	9	1689	c.1304G>A	c.(1303-1305)gGa>gAa	p.G435E	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G387E|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G439E|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G363E|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	436	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TACCAGCCAGGAAAATTACCC	0.428000													12	2					0	0	0.013537	0	0
KDM7A	80853	broad.mit.edu	37	7	139801761	139801761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:139801761G>A	ENST00000397560.2	-	12	1725	c.1628C>T	c.(1627-1629)cCa>cTa	p.P543L	JHDM1D_ENST00000006967.5_Missense_Mutation_p.P543L	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		543					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CTCTTCCCATGGACACATCTC	0.388000													54	50					0	0	0.014410	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29435648	29435648	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:29435648A>T	ENST00000283351.4	-	21	3646	c.3311T>A	c.(3310-3312)tTt>tAt	p.F1104Y	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.F1050Y	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1104					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						CACATCCACAAAGACTAGCAT	0.353000													10	33					0	0	0.008291	0	0
USP5	8078	broad.mit.edu	37	12	6964919	6964919	+	Splice_Site	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:6964919A>G	ENST00000229268.8	+	3	290	c.237_splice	c.e3-1	p.K80_splice	USP5_ENST00000389231.5_Splice_Site_p.K80_splice	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	80					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TTCTTTACAGAAAGAGGAGGA	0.572000													19	42					0	0	0.005443	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284899	55284899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55284899G>A	ENST00000336077.6	+	3	225	c.185G>A	c.(184-186)aGa>aAa	p.R62K	KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R62K|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	62	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTTCTGCACAGAGAGGGGATG	0.532000													43	68					0	0	0.014410	0	0
TRGC2	6967	broad.mit.edu	37	7	38288882	38288882	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:38288882C>T	ENST00000436911.2	-	0	291																											TTGATCAATTCCGTTTTTATT	0.358000													21	3					0	0	0.012319	0	0
FCHSD2	9873	broad.mit.edu	37	11	72579048	72579048	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:72579048G>A	ENST00000409314.1	-	14	1410	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	FCHSD2_ENST00000409853.1_Silent_p.A334A|FCHSD2_ENST00000409418.4_Silent_p.A390A|FCHSD2_ENST00000311172.7_Silent_p.A334A|FCHSD2_ENST00000458644.2_Silent_p.A254A			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	390							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GGTCCAACCGGGCTTCAGCTT	0.413000													186	214					0	0	0.014410	0	0
DSP	1832	broad.mit.edu	37	6	7583554	7583554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:7583554G>A	ENST00000379802.3	+	24	6400	c.6059G>A	c.(6058-6060)gGa>gAa	p.G2020E	DSP_ENST00000418664.2_Missense_Mutation_p.G1421E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2020	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTATCGCTGGAGCATCTGCT	0.468000													9	28					0	0	0.004482	0	0
DGCR14	8220	broad.mit.edu	37	22	19124933	19124933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:19124933G>A	ENST00000252137.6	-	8	981	c.938C>T	c.(937-939)tCc>tTc	p.S313F		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	313					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CATCATCGGGGACTCGTTCAC	0.582000													41	50					0	0	0.009718	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43693968	43693968	+	Silent	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:43693968C>A	ENST00000564079.1	+	15	1891	c.1651C>A	c.(1651-1653)Cga>Aga	p.R551R	TUBGCP4_ENST00000260383.7_Silent_p.R552R|TUBGCP4_ENST00000399460.3_3'UTR	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	552					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CAATTCTACCCGAGACTTTGA	0.408000													41	63					2.24722e-20	3.01672e-20	0.014410	1	0
KCNAB1	7881	broad.mit.edu	37	3	156009785	156009785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:156009785C>T	ENST00000302490.8	+	1	960	c.89C>T	c.(88-90)cCc>cTc	p.P30L	KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.P30L	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	49						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCACCGCCCCCAATGTGGTG	0.577000													9	28					0	0	0.008291	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454810	96454810	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:96454810G>A	ENST00000285979.6	+	4	817	c.618G>A	c.(616-618)agG>agA	p.R206R	CYP2C18_ENST00000339022.5_Silent_p.R206R|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		AAAACCTCAGGATTCTGAGCT	0.338000													17	18					0	0	0.006122	0	0
TLE1	7088	broad.mit.edu	37	9	84208114	84208114	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:84208114G>A	ENST00000376499.3	-	15	2471	c.1407C>T	c.(1405-1407)ccC>ccT	p.P469P		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	469					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GGGGGATTCCGGGTCCGATGA	0.587000													18	43					0	0	0.008871	0	0
HHIP	64399	broad.mit.edu	37	4	145658962	145658962	+	Silent	SNP	G	G	A	rs35379077	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:145658962G>A	ENST00000296575.3	+	13	2611	c.1956G>A	c.(1954-1956)ccG>ccA	p.P652P		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	652	EGF-like 2.					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)		GTGTTAGACCGAACAAGTGCC	0.448000													9	55					0	0	0.006214	0	0
DNAH5	1767	broad.mit.edu	37	5	13841965	13841965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:13841965C>T	ENST00000265104.4	-	33	5424	c.5320G>A	c.(5320-5322)Gaa>Aaa	p.E1774K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1774	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTATCCAATTCAATCGTCTCA	0.368000									Kartagener syndrome				31	30					0	0	0.004289	0	0
RET	5979	broad.mit.edu	37	10	43623687	43623687	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:43623687G>A	ENST00000355710.3	+	20	3547	c.3315G>A	c.(3313-3315)gcG>gcA	p.A1105A		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1105					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CACCCTCAGCGGCAAAATTAA	0.438000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				30	33					0	0	0.012213	0	0
MMP2	4313	broad.mit.edu	37	16	55516912	55516912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:55516912G>A	ENST00000219070.4	+	2	754	c.245G>A	c.(244-246)gGa>gAa	p.G82E	MMP2_ENST00000543485.1_Missense_Mutation_p.G6E|MMP2_ENST00000437642.2_Missense_Mutation_p.G32E|MMP2_ENST00000570308.1_Missense_Mutation_p.G6E	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	82					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AAGTTCTTTGGACTGCCCCAG	0.517000													23	4					0	0	0.002780	0	0
LAMA1	284217	broad.mit.edu	37	18	6992613	6992613	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:6992613G>A	ENST00000389658.3	-	36	5208	c.5115C>T	c.(5113-5115)atC>atT	p.I1705I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1705	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTATCTGCATGATTTCTAGCA	0.378000													20	53					0	0	0.007413	0	0
C1orf43	25912	broad.mit.edu	37	1	154180057	154180057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:154180057G>A	ENST00000368521.5	-	7	832	c.634C>T	c.(634-636)Cct>Tct	p.P212S	C1orf43_ENST00000362076.4_Missense_Mutation_p.P160S|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000350592.3_Missense_Mutation_p.P178S|C1orf43_ENST00000368519.1_Missense_Mutation_p.P194S	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	212						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GAGACCTCAGGGGACTGAGTT	0.498000													34	73					0	0	0.003755	0	0
CAPN13	92291	broad.mit.edu	37	2	30966414	30966414	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:30966414A>T	ENST00000295055.8	-	13	1456	c.1280T>A	c.(1279-1281)tTt>tAt	p.F427Y	CAPN13_ENST00000534090.2_Missense_Mutation_p.F427Y	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	427					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAACGAGGAAAAAAACACGGG	0.463000													35	45					0	0	0.004289	0	0
KCNC4	3749	broad.mit.edu	37	1	110766321	110766321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:110766321G>A	ENST00000369787.3	+	2	1441	c.1414G>A	c.(1414-1416)Gtc>Atc	p.V472I	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.V472I|KCNC4_ENST00000438661.2_Missense_Mutation_p.V472I	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	472					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCTGTCATCGTCAACAACTT	0.612000													12	42					0	0	0.013537	0	0
GPR3	2827	broad.mit.edu	37	1	27720878	27720878	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:27720878G>A	ENST00000374024.3	+	2	675	c.576G>A	c.(574-576)aaG>aaA	p.K192K		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	192					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CACTCTCCAAGAACCATCTGG	0.597000													27	109					0	0	0.009535	0	0
YME1L1	10730	broad.mit.edu	37	10	27436370	27436370	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:27436370G>A	ENST00000477432.1	-	3	1451	c.396C>T	c.(394-396)ttC>ttT	p.F132F	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000326799.3_Intron|YME1L1_ENST00000376016.3_Intron			Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	0					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCGTGACTAAGAACGATGGAC	0.423000													10	27					0	0	0.010729	0	0
ZMYM2	7750	broad.mit.edu	37	13	20656921	20656921	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:20656921G>A	ENST00000382869.3	+	23	3820	c.3568_splice	c.e23-1	p.G1190_splice	ZMYM2_ENST00000382870.2_Splice_Site_p.G570_splice|ZMYM2_ENST00000382871.2_Splice_Site_p.G1190_splice|ZMYM2_ENST00000494061.1_3'UTR|ZMYM2_ENST00000382874.2_Splice_Site_p.G1190_splice	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TCTATTTAAGGGTCAATATTC	0.318000													5	5					0	0	0.000602	0	0
PCNT	5116	broad.mit.edu	37	21	47831555	47831555	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:47831555C>T	ENST00000359568.5	+	28	5675	c.5568C>T	c.(5566-5568)atC>atT	p.I1856I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1856					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTCCCGGATCCAGGAGTTCG	0.617000													11	27					0	0	0.001855	0	0
GFRA3	2676	broad.mit.edu	37	5	137593381	137593381	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:137593381C>T	ENST00000274721.3	-	4	978	c.732G>A	c.(730-732)gtG>gtA	p.V244V	GFRA3_ENST00000378362.3_Silent_p.V213V	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	244					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGTTGGGGGCCACAGGCGGCA	0.701000													20	21					0	0	0.014323	0	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127610	32127610	+	Silent	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:32127610G>C	ENST00000335093.3	-	1	136	c.87C>G	c.(85-87)ggC>ggG	p.G29G		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	29						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						cagttccatagccacagccac	0.557000													46	40					0	0	0.013114	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37945972	37945972	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:37945972C>T	ENST00000373087.6	+	3	641	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	175					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACACAGACATCACAGTGTTTG	0.622000													35	15					0	0	0.006230	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138444555	138444555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:138444555C>T	ENST00000310018.2	-	8	863	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.R194Q|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.R194Q	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	194					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACGTTTCCTCGGCAGATTCG	0.527000													27	28					0	0	0.004656	0	0
GP2	2813	broad.mit.edu	37	16	20335153	20335153	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20335153G>A	ENST00000302555.5	-	3	669	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	GP2_ENST00000381362.4_Silent_p.L174L|GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	174						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGTATCTCAGATTACACCAG	0.562000													7	11					0	0	0.003080	0	0
SPRED1	161742	broad.mit.edu	37	15	38641716	38641716	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:38641716C>T	ENST00000299084.4	+	6	1536	c.676C>T	c.(676-678)Caa>Taa	p.Q226*		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	226					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCTAAAGTCCCAAAATAGGGT	0.348000									Legius syndrome				5	2					0	0	0.000602	0	0
NEFM	4741	broad.mit.edu	37	8	24775240	24775240	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:24775240G>A	ENST00000221166.5	+	3	2654	c.1872G>A	c.(1870-1872)gaG>gaA	p.E624E	NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Silent_p.E248E|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000437366.2_Silent_p.E624E			P07197	NFM_HUMAN	neurofilament, medium polypeptide	624	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CAGTGGAAGAGAAAGGCAAGT	0.532000													14	9					0	0	0.004007	0	0
MS4A6A	64231	broad.mit.edu	37	11	59942973	59942973	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:59942973A>G	ENST00000528851.1	-	5	591	c.451T>C	c.(451-453)Ttg>Ctg	p.L151L	MS4A6A_ENST00000323961.3_Silent_p.L151L|MS4A6A_ENST00000530839.1_Silent_p.L151L|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000420732.2_Intron|MS4A6A_ENST00000426738.2_Silent_p.L106L|MS4A6A_ENST00000412309.2_Silent_p.L179L|MS4A6A_ENST00000529054.1_Silent_p.L179L			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	151						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTTTGTCCAACTCACACTGC	0.438000													15	26					0	0	0.003163	0	0
TRAV19	28664	broad.mit.edu	37	14	22476223	22476223	+	RNA	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:22476223T>C	ENST00000390447.3	+	0	270																											GTGATACTACTTATTACTTAT	0.428000													15	15					0	0	0.004007	0	0
SHPRH	257218	broad.mit.edu	37	6	146264734	146264734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:146264734G>A	ENST00000367503.3	-	9	2181	c.1783C>T	c.(1783-1785)Ccc>Tcc	p.P595S	SHPRH_ENST00000275233.7_Missense_Mutation_p.P595S|SHPRH_ENST00000367505.2_Missense_Mutation_p.P595S|SHPRH_ENST00000438092.2_Missense_Mutation_p.P595S	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	595					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGTGAATCGGGATTGATAAAT	0.363000													10	20					0	0	0.008291	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600827	141600827	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:141600827A>G	ENST00000442267.2	-	4	605	c.531T>C	c.(529-531)ggT>ggC	p.G177G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	177	GRAM 1.					intracellular	calcium ion binding|Rab GTPase activator activity			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)				GGTACATCCAACCCTGACGGG	0.428000													19	21					0	0	0.012319	0	0
MYH8	4626	broad.mit.edu	37	17	10317709	10317709	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10317709G>A	ENST00000403437.2	-	10	992	c.898C>T	c.(898-900)Cta>Tta	p.L300L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	300	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTACCAATTAGATCTGGCTTC	0.328000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				4	18					0	0	0.009096	0	0
FAM47A	158724	broad.mit.edu	37	X	34148259	34148259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:34148259G>A	ENST00000346193.3	-	1	2188	c.2137C>T	c.(2137-2139)Cct>Tct	p.P713S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	713								p.P713T(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCAATCAAAGGTTCATCACTT	0.423000													43	2					0	0	0.009718	0	0
RNF123	63891	broad.mit.edu	37	3	49743008	49743008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49743008C>T	ENST00000327697.6	+	24	2344	c.2200C>T	c.(2200-2202)Ccc>Tcc	p.P734S	RNF123_ENST00000432042.1_Missense_Mutation_p.P588S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	734						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCTGGGGCGGCCCCCCGAGGA	0.652000													5	22					0	0	0.001168	0	0
MTMR3	8897	broad.mit.edu	37	22	30403281	30403281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:30403281G>A	ENST00000333027.3	+	10	1178	c.850G>A	c.(850-852)Ggg>Agg	p.G284R	MTMR3_ENST00000406629.1_Missense_Mutation_p.G284R|MTMR3_ENST00000401950.2_Missense_Mutation_p.G284R|MTMR3_ENST00000351488.3_Missense_Mutation_p.G284R|MTMR3_ENST00000323630.5_Missense_Mutation_p.G148R	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	284	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTTTCCCAATGGGGGAGACCT	0.498000													18	25					0	0	0.002780	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110502190	110502190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:110502190G>A	ENST00000378402.5	+	60	9994	c.9890G>A	c.(9889-9891)aGa>aAa	p.R3297K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3297					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAAATGCAAGAATAAGTAAT	0.328000										HNSCC(38;0.096)			4	0					0	0	0.000602	0	0
PPP1R36	145376	broad.mit.edu	37	14	65032075	65032075	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:65032075G>A	ENST00000298705.1	+	5	366	c.269_splice	c.e5-1	p.R90_splice	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	90																	TCCAAAACAGGTTGACAGATA	0.333000													7	1					0	0	0.004482	0	0
SSH2	85464	broad.mit.edu	37	17	27958627	27958627	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:27958627G>A	ENST00000269033.3	-	15	3655	c.3504C>T	c.(3502-3504)ctC>ctT	p.L1168L	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.L1195L	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1168					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCACTGGAGAGAGGGCTCT	0.512000													29	28					0	0	0.010818	0	0
LTA4H	4048	broad.mit.edu	37	12	96402917	96402917	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:96402917C>G	ENST00000228740.2	-	15	1530	c.1389G>C	c.(1387-1389)atG>atC	p.M463I	LTA4H_ENST00000548375.1_5'UTR|LTA4H_ENST00000552789.1_Missense_Mutation_p.M439I|RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000413268.2_Missense_Mutation_p.M439I	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	463					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TTGTCAGAGTCATATCATAAC	0.294000													13	12					0	0	0.004990	0	0
MAP2K7	5609	broad.mit.edu	37	19	7977296	7977296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:7977296C>T	ENST00000545011.1	+	11	1431	c.1366C>T	c.(1366-1368)Cac>Tac	p.H456Y	MAP2K7_ENST00000397983.3_Missense_Mutation_p.H430Y|MAP2K7_ENST00000397979.3_Missense_Mutation_p.H414Y|MAP2K7_ENST00000397981.3_Missense_Mutation_p.H421Y			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	414					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GAGCCAGCCCCACCTGCCCTT	0.682000													7	14					0	0	0.001984	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570064	47570064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:47570064G>A	ENST00000253048.5	-	15	3498	c.3461C>T	c.(3460-3462)cCc>cTc	p.P1154L	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1154							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCCCGCGTTGGGAGTCCTCGG	0.697000													8	9					0	0	0.004482	0	0
OLFML1	283298	broad.mit.edu	37	11	7507106	7507106	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:7507106G>A	ENST00000329293.3	+	0	394				OLFML1_ENST00000528758.1_De_novo_Start_InFrame|OLFML1_ENST00000530135.1_De_novo_Start_InFrame|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1							extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TGTTTTGCAGGATGATGGTGG	0.577000													34	26					0	0	0.006999	0	0
RBM12	10137	broad.mit.edu	37	20	34241216	34241216	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:34241216G>A	ENST00000374114.3	-	3	2292	c.2029C>T	c.(2029-2031)Ctg>Ttg	p.L677L	RBM12_ENST00000359646.1_Silent_p.L677L|RBM12_ENST00000374104.3_Silent_p.L677L|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000317677.5_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	677	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GAACCAGGCAGTCCTGTGCTG	0.607000													17	20					0	0	0.004007	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359505	70359505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:70359505C>T	ENST00000305107.6	-	2	822	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.R259Q|UGT2B4_ENST00000381096.3_Missense_Mutation_p.R123Q	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	259					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCAGTAGTTTCGAATAAGCCA	0.418000													8	14					0	0	0.003080	0	0
ZNF347	84671	broad.mit.edu	37	19	53644084	53644084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:53644084G>A	ENST00000452676.2	-	5	2426	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L	ZNF347_ENST00000334197.7_Missense_Mutation_p.S666L|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.S667L	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	666					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGCAAGGTGTGAATTCTGAGT	0.418000													33	36					0	0	0.006999	0	0
SLC18B1	116843	broad.mit.edu	37	6	133118188	133118188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:133118188G>A	ENST00000275227.4	-	2	212	c.116C>T	c.(115-117)tCg>tTg	p.S39L	SLC18B1_ENST00000460518.1_5'UTR|SLC18B1_ENST00000538764.1_5'UTR|SLC18B1_ENST00000367918.1_Missense_Mutation_p.S39L	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN	solute carrier family 18, subfamily B, member 1	39					transmembrane transport	integral to membrane											CGAAGCTGCCGATATCAGTAC	0.458000													57	65					0	0	0.014410	0	0
MEF2C	4208	broad.mit.edu	37	5	88025141	88025141	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:88025141C>T	ENST00000504921.2	-	8	1530	c.858G>A	c.(856-858)caG>caA	p.Q286Q	MEF2C_ENST00000424173.2_Silent_p.Q276Q|MEF2C_ENST00000514015.1_Silent_p.Q286Q|MEF2C_ENST00000539796.1_Silent_p.Q230Q|MEF2C_ENST00000508569.1_Silent_p.Q278Q|MEF2C_ENST00000510942.1_Silent_p.Q278Q|MEF2C_ENST00000340208.5_Silent_p.Q296Q|MEF2C_ENST00000506554.1_Silent_p.Q286Q|MEF2C_ENST00000437473.2_Silent_p.Q286Q|MEF2C_ENST00000514028.1_Silent_p.Q286Q			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	286					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ACTGAGCCGACTGGGAGTTAT	0.338000										HNSCC(66;0.2)			3	5					0	0	0.004672	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594580	140594580	+	Silent	SNP	C	C	T	rs141257469	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140594580C>T	ENST00000341948.4	+	1	1072	c.885C>T	c.(883-885)atC>atT	p.I295I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		295	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTTAAGATCAATCCCTTGA	0.398000													51	47					0	0	0.014410	0	0
SLC38A4	55089	broad.mit.edu	37	12	47178369	47178369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:47178369C>T	ENST00000447411.1	-	6	655	c.449G>A	c.(448-450)gGa>gAa	p.G150E	SLC38A4_ENST00000266579.4_Missense_Mutation_p.G150E	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	150					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)					TCCAATTTTTCCCGGCCATCC	0.333000													9	8					0	0	0.008291	0	0
TRPC7	57113	broad.mit.edu	37	5	135587470	135587470	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:135587470G>A	ENST00000513104.1	-	6	1728	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TRPC7_ENST00000426057.2_Silent_p.F366F|TRPC7_ENST00000355180.3_Silent_p.F421F	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	482					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGAGGCCACGAAGATGGACA	0.572000													15	28					0	0	0.006122	0	0
POTEH	23784	broad.mit.edu	37	22	16266988	16266988	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:16266988C>T	ENST00000343518.6	-	9	1512	c.1461G>A	c.(1459-1461)agG>agA	p.R487R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	487										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCTGCTTTTCCTTGGTGGAA	0.433000													21	154					0	0	0.003755	0	0
PROX2	283571	broad.mit.edu	37	14	75329428	75329428	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:75329428C>T	ENST00000556489.2	-	1	1109	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	PROX2_ENST00000445876.1_Silent_p.Q370Q|PROX2_ENST00000556084.2_Intron	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	370					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGGGGTGCCTCTGGGAAGATG	0.542000													13	14					0	0	0.013537	0	0
DNAH3	55567	broad.mit.edu	37	16	20966287	20966287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20966287C>T	ENST00000261383.3	-	55	10918	c.10919G>A	c.(10918-10920)cGg>cAg	p.R3640Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3640	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGGTTGGCCCGGAGCCCTTT	0.502000													48	53					0	0	0.014410	0	0
RNF14	9604	broad.mit.edu	37	5	141367340	141367340	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:141367340T>A	ENST00000394520.2	+	9	1719	c.1410T>A	c.(1408-1410)gaT>gaA	p.D470E	RNF14_ENST00000356143.1_Missense_Mutation_p.D470E|RNF14_ENST00000394515.3_Missense_Mutation_p.D294E|RNF14_ENST00000540015.1_Missense_Mutation_p.D167E|RNF14_ENST00000347642.3_Missense_Mutation_p.D470E|RNF14_ENST00000394514.2_Missense_Mutation_p.D344E|RNF14_ENST00000394519.1_Missense_Mutation_p.D470E	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	470	Interaction with androgen receptor.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TTTGGGAAGATGAGGTAGAAG	0.368000													33	58					0	0	0.007835	0	0
LILRB4	11006	broad.mit.edu	37	19	55179167	55179167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55179167C>T	ENST00000391736.1	+	13	1438	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	LILRB4_ENST00000270452.2_Missense_Mutation_p.P375S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P374S|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000391733.3_Missense_Mutation_p.P376S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	375						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AATGGCCTCTCCTCCCTCCCC	0.567000													16	18					0	0	0.004990	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849702	98849702	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:98849702G>A	ENST00000554295.1	-	0	1221					NR_033801.1																						TCCACCGACAGATTGTTGAAG	0.483000													17	59					0	0	0.002780	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51917725	51917725	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:51917725G>A	ENST00000353836.5	-	8	1596	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	SIGLEC10_ENST00000356298.5_Silent_p.L554L|SIGLEC10_ENST00000432469.2_Silent_p.L376L|SIGLEC10_ENST00000339313.5_Silent_p.L554L|SIGLEC10_ENST00000442846.3_Silent_p.L311L|SIGLEC10_ENST00000439889.2_Silent_p.L496L|SIGLEC10_ENST00000441969.3_Silent_p.L401L|SIGLEC10_ENST00000436984.2_Silent_p.L411L|SIGLEC10_ENST00000525998.1_Silent_p.L369L|CTD-2616J11.3_ENST00000532473.1_RNA	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	554					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCGATTCCCAGAAACGCTCCG	0.587000													14	17					0	0	0.010504	0	0
VEZT	55591	broad.mit.edu	37	12	95676127	95676127	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:95676127C>T	ENST00000436874.1	+	8	1140	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	VEZT_ENST00000261219.6_Silent_p.F297F|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	345						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GTTCAGAGTTCTTCAGACGGT	0.403000													16	24					0	0	0.004007	0	0
ERBB2	2064	broad.mit.edu	37	17	37882045	37882045	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:37882045G>A	ENST00000406381.2	+	25	3231	c.2721G>A	c.(2719-2721)aaG>aaA	p.K907K	ERBB2_ENST00000540147.1_Silent_p.K907K|ERBB2_ENST00000445658.2_Silent_p.K661K|ERBB2_ENST00000541774.1_Silent_p.K922K|ERBB2_ENST00000269571.5_Silent_p.K937K|ERBB2_ENST00000584601.1_Silent_p.K907K|ERBB2_ENST00000584450.1_Silent_p.K937K	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	937	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGCTGGAAAAGGGGGAGCGGC	0.592000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			19	39					0	0	0.014323	0	0
MROH2B	133558	broad.mit.edu	37	5	41004599	41004599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:41004599G>A	ENST00000399564.4	-	37	4493	c.4043C>T	c.(4042-4044)tCt>tTt	p.S1348F	MROH2B_ENST00000506092.2_Missense_Mutation_p.S903F	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCTGATGATAGATTCTAGCAT	0.423000													25	18					0	0	0.005443	0	0
PGK2	5232	broad.mit.edu	37	6	49754496	49754496	+	Silent	SNP	G	G	A	rs142594452	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:49754496G>A	ENST00000304801.3	-	1	557	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	135					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)					TCTTTCCAGAGGGATCTTGGC	0.502000													20	18					0	0	0.012319	0	0
C12orf74	338809	broad.mit.edu	37	12	93100637	93100637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:93100637C>T	ENST00000544406.2	+	2	496	c.230C>T	c.(229-231)cCt>cTt	p.P77L	C12orf74_ENST00000397833.3_Missense_Mutation_p.P77L			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	77										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						TGGGGAGCTCCTGTGGGCTTC	0.572000													25	18					0	0	0.003954	0	0
SCN5A	6331	broad.mit.edu	37	3	38622668	38622668	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:38622668G>A	ENST00000413689.1	-	17	3175	c.2982C>T	c.(2980-2982)gcC>gcT	p.A994A	SCN5A_ENST00000425664.1_Silent_p.A994A|SCN5A_ENST00000333535.4_Silent_p.A994A|SCN5A_ENST00000455624.2_Silent_p.A994A|SCN5A_ENST00000451551.2_Silent_p.A994A|SCN5A_ENST00000450102.2_Silent_p.A994A|SCN5A_ENST00000449557.2_Silent_p.A994A|SCN5A_ENST00000443581.1_Silent_p.A994A|SCN5A_ENST00000423572.2_Silent_p.A994A|SCN5A_ENST00000414099.2_Silent_p.A994A	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	994					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGGCGGCAAGGGCTGCGGGCT	0.687000													10	6					0	0	0.008291	0	0
ZSCAN12P1	221584	broad.mit.edu	37	6	28060549	28060549	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:28060549C>T	ENST00000529104.1	+	0	764					NR_024063.2																						GAGCATCAGCCGGAGAACAGA	0.488000													4	2					0	0	0.009096	0	0
PREX1	57580	broad.mit.edu	37	20	47273652	47273652	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:47273652C>T	ENST00000396220.1	-	18	2071	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E	PREX1_ENST00000371941.3_Silent_p.E683E			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	683	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGACTCCACCTCTGAAAACG	0.637000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	10					0	0	0.001984	0	0
VPS54	51542	broad.mit.edu	37	2	64160887	64160887	+	Silent	SNP	G	G	A	rs138163290		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:64160887G>A	ENST00000354504.3	-	9	1789	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S	VPS54_ENST00000409558.3_Silent_p.S541S|VPS54_ENST00000272322.4_Silent_p.S553S			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	553					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						ATTCTGGCTCGGATACAGAAT	0.453000													21	24					0	0	0.014323	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650546	94650546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:94650546C>T	ENST00000260526.6	-	18	2173	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	664					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTGTATTTTTCCTGGAAGTTT	0.338000													6	38					0	0	0.001984	0	0
HORMAD1	84072	broad.mit.edu	37	1	150676664	150676664	+	Missense_Mutation	SNP	C	C	T	rs145538442		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:150676664C>T	ENST00000368993.2	-	12	983	c.878G>A	c.(877-879)aGt>aAt	p.S293N	HORMAD1_ENST00000322343.7_Missense_Mutation_p.S286N|HORMAD1_ENST00000361824.2_Missense_Mutation_p.S293N|HORMAD1_ENST00000368995.4_Missense_Mutation_p.S213N			Q86X24	HORM1_HUMAN	HORMA domain containing 1	293					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACAAACTAAACTTGGTTCTGT	0.303000													14	6					0	0	0.004007	0	0
RAB19	401409	broad.mit.edu	37	7	140107532	140107532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:140107532G>A	ENST00000275874.5	+	2	284	c.86G>A	c.(85-87)gGg>gAg	p.G29E	RAB19_ENST00000537763.1_Missense_Mutation_p.G29E|RAB19_ENST00000356407.3_Missense_Mutation_p.G29E			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	29					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TCCAATGTGGGGAAGACGTGT	0.483000													26	38					0	0	0.003330	0	0
DCST1	149095	broad.mit.edu	37	1	155014088	155014088	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:155014088C>T	ENST00000295542.1	+	7	843	c.748_splice	c.e7+1	p.S249_splice	DCST1_ENST00000368419.2_Splice_Site_p.S249_splice|DCST1_ENST00000423025.2_Splice_Site_p.S224_splice|DCST1_ENST00000392480.1_Splice_Site_p.S249_splice	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	249						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGCGTTGCTCCTGTGAGGGGT	0.612000													11	62					0	0	0.010729	0	0
DNAH5	1767	broad.mit.edu	37	5	13867897	13867897	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:13867897G>A	ENST00000265104.4	-	25	4143	c.4039C>T	c.(4039-4041)Ctg>Ttg	p.L1347L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1347	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCATAGTCCAGATAAAACTGG	0.403000									Kartagener syndrome				23	28					0	0	0.005443	0	0
OR5D14	219436	broad.mit.edu	37	11	55563154	55563154	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55563154G>A	ENST00000335605.1	+	1	123	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTATCACAGTGGTAGGAAACC	0.393000													18	20					0	0	0.006122	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151054898	151054898	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:151054898C>T	ENST00000367328.1	+	3	393	c.81C>T	c.(79-81)tcC>tcT	p.S27S	PLEKHG1_ENST00000358517.2_Silent_p.S27S	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	27					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCCATGGTTCCTTCGGCAGCA	0.532000													49	52					0	0	0.014410	0	0
TC2N	123036	broad.mit.edu	37	14	92258738	92258738	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:92258738C>T	ENST00000435962.2	-	9	1343	c.1020G>A	c.(1018-1020)ttG>ttA	p.L340L	TC2N_ENST00000556018.1_Intron|TC2N_ENST00000340892.5_Silent_p.L340L|TC2N_ENST00000360594.5_Silent_p.L340L	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	340						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GTGTTATATCCAAAGAGTAAT	0.358000													50	63					0	0	0.014410	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693116	69693116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:69693116G>A	ENST00000265403.7	+	5	1184	c.1157G>A	c.(1156-1158)gGg>gAg	p.G386E	UGT2B10_ENST00000458688.2_Missense_Mutation_p.G302E	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	386					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						ATCTACCATGGGATCCCTATG	0.413000													6	21					0	0	0.003080	0	0
TMEM173	340061	broad.mit.edu	37	5	138861082	138861082	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:138861082G>A	ENST00000330794.4	-	3	541	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	70					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGTGGCGCAGCTCCTCAGCC	0.617000													19	35					0	0	0.012319	0	0
TTN	7273	broad.mit.edu	37	2	179481477	179481477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179481477C>T	ENST00000589042.1	-	256	48363	c.48139G>A	c.(48139-48141)Gaa>Aaa	p.E16047K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E6982K|TTN_ENST00000359218.5_Missense_Mutation_p.E7107K|TTN_ENST00000342175.6_Missense_Mutation_p.E7174K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342992.6_Missense_Mutation_p.E13479K|TTN_ENST00000591111.1_Missense_Mutation_p.E14406K|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14406	Ig-like 99.						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)			ACATCAATTTCCCCAGAAATT	0.358000													4	14					0	0	0.009096	0	0
OSCP1	127700	broad.mit.edu	37	1	36897419	36897419	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:36897419T>C	ENST00000356637.5	-	5	593	c.530A>G	c.(529-531)cAa>cGa	p.Q177R	OSCP1_ENST00000235532.5_Missense_Mutation_p.Q167R|OSCP1_ENST00000433045.2_Missense_Mutation_p.Q122R|OSCP1_ENST00000315643.9_Missense_Mutation_p.Q177R|OSCP1_ENST00000354267.3_Missense_Mutation_p.Q167R			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	177					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						GTGCAGGTCTTGGAAGAAGAT	0.527000													12	30					0	0	0.002450	0	0
ITPR2	3709	broad.mit.edu	37	12	26868252	26868252	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:26868252T>A	ENST00000381340.3	-	8	1251	c.835A>T	c.(835-837)Aaa>Taa	p.K279*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	279	MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGAGTGCTTTAGAACTAGTA	0.348000													9	33					0	0	0.006214	0	0
ISM2	145501	broad.mit.edu	37	14	77951263	77951263	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:77951263C>T	ENST00000393684.3	-	3	269		c.e3-1		ISM2_ENST00000429906.1_Intron|ISM2_ENST00000412904.1_Splice_Site|ISM2_ENST00000342219.4_Splice_Site|ISM2_ENST00000493585.1_Splice_Site			Q6H9L7	ISM2_HUMAN	isthmin 2							extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						AGGCTGAGACCTGAGGGAGAG	0.617000													20	31					0	0	0.004656	0	0
HOMER2	9455	broad.mit.edu	37	15	83527843	83527843	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:83527843G>A	ENST00000304231.8	-	5	657	c.465C>T	c.(463-465)gcC>gcT	p.A155A	HOMER2_ENST00000450735.2_Silent_p.A144A|HOMER2_ENST00000399166.2_Silent_p.A144A|HOMER2_ENST00000426485.1_Silent_p.A155A	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	155					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						TGGCTGGACCGGCGTGAGAGG	0.493000													69	66					0	0	0.014410	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917436	89917436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:89917436C>T	ENST00000547474.1	-	3	481	c.115G>A	c.(115-117)Gat>Aat	p.D39N	POC1B_ENST00000549035.1_Intron|GALNT4_ENST00000529983.2_Silent_p.R297R|POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000548729.1_Silent_p.R294R|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000413530.1_Silent_p.R125R														p.R297R(1)									TTCTTGATATCCGCCTGTCCC	0.458000													10	35					0	0	0.008291	0	0
C7orf62	219557	broad.mit.edu	37	7	88424098	88424098	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:88424098C>T	ENST00000297203.2	-	2	344	c.159G>A	c.(157-159)gtG>gtA	p.V53V	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	53										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTATCTTGGCCACTAGAAACA	0.383000													6	12					0	0	0.003080	0	0
COL4A1	1282	broad.mit.edu	37	13	110835408	110835408	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:110835408C>A	ENST00000375820.4	-	28	2148	c.2027G>T	c.(2026-2028)gGc>gTc	p.G676V		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	676	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCTGGCAGGCCTGGCCTTCC	0.622000													9	18					0.000673444	0.000889669	0.008291	1	0
TBC1D2	55357	broad.mit.edu	37	9	100971427	100971427	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:100971427C>T	ENST00000375066.5	-	9	1765		c.e9-1		TBC1D2_ENST00000375063.1_Splice_Site|TBC1D2_ENST00000375064.1_Splice_Site|TBC1D2_ENST00000342112.5_Splice_Site|TBC1D2_ENST00000493589.2_Splice_Site	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2							cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		ATCATACTTACTGCCAGCAAA	0.577000													116	110					0	0	0.014410	0	0
TECRL	253017	broad.mit.edu	37	4	65175603	65175603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:65175603C>T	ENST00000381210.3	-	6	708	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.E200K	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	200					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AATAAGGTTTCCAAAAGGTAT	0.333000													23	20					0	0	0.006320	0	0
TLL1	7092	broad.mit.edu	37	4	167020678	167020678	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:167020678G>A	ENST00000061240.2	+	20	3553	c.2907_splice	c.e20+1	p.G969_splice	TLL1_ENST00000507499.1_Splice_Site_p.G992_splice	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	969	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTGGATCCGGGGTAAATATA	0.428000													11	14					0	0	0.013537	0	0
ILDR2	387597	broad.mit.edu	37	1	166905895	166905895	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:166905895G>A	ENST00000271417.3	-	5	691	c.636C>T	c.(634-636)tgC>tgT	p.C212C	ILDR2_ENST00000469934.2_Silent_p.C212C|ILDR2_ENST00000529071.1_Silent_p.C193C|ILDR2_ENST00000528703.1_Silent_p.C212C|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	212	Cys-rich.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGCTGTGAGGGCAGCACTGGC	0.597000													8	22					0	0	0.003080	0	0
ANKRD17	26057	broad.mit.edu	37	4	74008371	74008371	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:74008371T>A	ENST00000358602.4	-	12	2187	c.2071A>T	c.(2071-2073)Act>Tct	p.T691S	ANKRD17_ENST00000509867.2_Missense_Mutation_p.T578S|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.T691S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	691					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAACGGTGAGTAGGATCTGCC	0.418000													10	12					0	0	0.006214	0	0
MGA	23269	broad.mit.edu	37	15	41962017	41962017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:41962017C>T	ENST00000219905.7	+	2	1106	c.925C>T	c.(925-927)Cct>Tct	p.P309S	MGA_ENST00000545763.1_Missense_Mutation_p.P309S|MGA_ENST00000389936.4_Missense_Mutation_p.P309S|MGA_ENST00000566586.1_Missense_Mutation_p.P309S|MGA_ENST00000568630.1_Intron|MGA_ENST00000570161.1_Missense_Mutation_p.P309S	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	309						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGATTTGGATCCTTTGTCAAG	0.443000													24	2					0	0	0.014323	0	0
ABHD15	116236	broad.mit.edu	37	17	27889813	27889813	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:27889813G>A	ENST00000307201.4	-	2	1343	c.1173C>T	c.(1171-1173)caC>caT	p.H391H	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	391						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGAAGCCACAGTGGCCTCCGT	0.607000													12	29					0	0	0.013537	0	0
POLR2A	5430	broad.mit.edu	37	17	7416903	7416903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7416903C>T	ENST00000322644.6	+	29	5719	c.5320C>T	c.(5320-5322)Ccc>Tcc	p.P1774S		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1774	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCTACTAGTCCCAACTACAC	0.532000													75	164					0	0	0.014410	0	0
PCDH1	5097	broad.mit.edu	37	5	141244783	141244783	+	Silent	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:141244783G>T	ENST00000287008.3	-	3	1260	c.1113C>A	c.(1111-1113)gcC>gcA	p.A371A	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.A349A|PCDH1_ENST00000394536.3_Silent_p.A371A|PCDH1_ENST00000456271.1_Silent_p.A359A|PCDH1_ENST00000511044.1_5'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	371	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CAACCACCTGGGCACGGGCAC	0.567000													49	64					2.14674e-31	2.89059e-31	0.014410	1	0
AKR1C3	8644	broad.mit.edu	37	10	5149687	5149687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:5149687G>A	ENST00000380554.3	+	9	1616	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	AKR1C3_ENST00000439082.2_Missense_Mutation_p.E203K|AKR1C3_ENST00000605149.1_Missense_Mutation_p.E299K	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	322					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ATATTCAGATGAATATTAACA	0.418000													11	17					0	0	0.013537	0	0
PLA2G5	5322	broad.mit.edu	37	1	20417136	20417136	+	Missense_Mutation	SNP	G	G	A	rs140232035	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:20417136G>A	ENST00000375108.3	+	5	636	c.368G>A	c.(367-369)cGg>cAg	p.R123Q	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	123					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		AGAAACCTACGGAGCTACAAC	0.537000													58	27					0	0	0.014410	0	0
ZNF624	57547	broad.mit.edu	37	17	16527814	16527814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:16527814G>A	ENST00000311331.7	-	6	477	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGCAGGTTTGGGCTCCATGTC	0.398000													27	18					0	0	0.010818	0	0
METTL7B	196410	broad.mit.edu	37	12	56077598	56077598	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:56077598G>A	ENST00000394252.3	+	2	709	c.498_splice	c.e2-1	p.G167_splice		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	167							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						CCCTCCCAGGGAGGTGTGCTC	0.522000													17	47					0	0	0.012319	0	0
TRPM4	54795	broad.mit.edu	37	19	49713561	49713561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:49713561C>T	ENST00000252826.5	+	21	3353	c.3227C>T	c.(3226-3228)gCc>gTc	p.A1076V	TRPM4_ENST00000355712.5_Missense_Mutation_p.A722V|TRPM4_ENST00000427978.2_Missense_Mutation_p.A931V	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1076	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCGCGCTGGCCCCGCCCTTT	0.632000													13	56					0	0	0.013537	0	0
NPFFR2	10886	broad.mit.edu	37	4	73003785	73003785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:73003785G>A	ENST00000344413.5	+	2	328	c.328G>A	c.(328-330)Gat>Aat	p.D110N	NPFFR2_ENST00000395999.1_Silent_p.K122K|NPFFR2_ENST00000358749.3_Silent_p.K119K|NPFFR2_ENST00000308744.6_Silent_p.K221K			Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	113					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CGATGTGCAAGATCAGTGGAT	0.383000													11	14					0	0	0.010729	0	0
IFRD2	7866	broad.mit.edu	37	3	50326071	50326071	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:50326071G>A	ENST00000436390.1	-	13	1592	c.1095C>T	c.(1093-1095)caC>caT	p.H365H	IFRD2_ENST00000336089.4_Silent_p.H531H|IFRD2_ENST00000417626.2_Silent_p.H365H|IFRD2_ENST00000429673.2_Silent_p.H429H			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	429							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGTAGATCCGGTGCCGAGCCC	0.607000													8	13					0	0	0.004482	0	0
DNMT3L	29947	broad.mit.edu	37	21	45679336	45679336	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:45679336T>A	ENST00000270172.3	-	5	811	c.328A>T	c.(328-330)Aac>Tac	p.N110Y	DNMT3L_ENST00000418993.1_Missense_Mutation_p.N110Y	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	110	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CAATCAGGGTTTCCGCAGATG	0.597000													21	30					0	0	0.002780	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43481655	43481655	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:43481655G>T	ENST00000376922.2	-	6	869	c.436C>A	c.(436-438)Cct>Act	p.P146T	ARHGAP27_ENST00000532891.2_Intron|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.P146T|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.P119T|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.P487T|ARHGAP27_ENST00000532038.1_Intron|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.P460T	NM_199282.2	NP_954976.1	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	487					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCTGTGGCAGGAGAGACTTCC	0.612000													21	35					1.85244e-09	2.46683e-09	0.003330	1	0
PATL1	219988	broad.mit.edu	37	11	59406625	59406625	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:59406625G>A	ENST00000300146.9	-	18	2271	c.2187C>T	c.(2185-2187)ccC>ccT	p.P729P	AP000442.1_ENST00000531108.1_RNA|AP000442.1_ENST00000531311.1_RNA	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	729	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GGGCTGCTTGGGGAATCCGCA	0.458000													18	11					0	0	0.006122	0	0
COPE	11316	broad.mit.edu	37	19	19021835	19021835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:19021835G>A	ENST00000600932.1	-	3	266	c.235C>T	c.(235-237)Cct>Tct	p.P79S	COPE_ENST00000349893.4_Missense_Mutation_p.P79S|COPE_ENST00000262812.4_Missense_Mutation_p.P79S|COPE_ENST00000351079.4_Missense_Mutation_p.P79S|AC002985.3_ENST00000596918.1_3'UTR|COPE_ENST00000598969.1_5'UTR			O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	79					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						TGGAGCTCAGGGGCCGAGGAG	0.632000													25	50					0	0	0.013726	0	0
CCSER1	401145	broad.mit.edu	37	4	91229612	91229612	+	Silent	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:91229612G>C	ENST00000509176.1	+	2	465	c.177G>C	c.(175-177)cgG>cgC	p.R59R	CCSER1_ENST00000432775.2_Silent_p.R59R|CCSER1_ENST00000333691.8_Silent_p.R59R	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		CAGGTAAACGGAGGAGCATAT	0.463000													6	22					0	0	0.001984	0	0
PVRL1	5818	broad.mit.edu	37	11	119510718	119510718	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:119510718C>T	ENST00000341398.2	-	6	1007	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K	RP11-196E1.3_ENST00000532153.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	336					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGGGGCGGGGCTTTTCTGGAA	0.552000													5	3					0	0	0.000602	0	0
NPY5R	4889	broad.mit.edu	37	4	164272759	164272759	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:164272759T>A	ENST00000515560.1	+	4	2856	c.1334T>A	c.(1333-1335)aTg>aAg	p.M445K	NPY5R_ENST00000338566.3_Missense_Mutation_p.M445K|NPY5R_ENST00000506953.1_Missense_Mutation_p.M445K			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	445					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				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)				TGTCTTCATATGTAATAATTC	0.289000													29	34					0	0	0.012213	0	0
IL17RC	84818	broad.mit.edu	37	3	9974701	9974701	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:9974701G>A	ENST00000295981.3	+	19	2018	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	IL17RC_ENST00000413608.1_Silent_p.L516L|IL17RC_ENST00000383812.4_Silent_p.L514L|IL17RC_ENST00000416074.2_Silent_p.L355L|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Silent_p.L529L|IL17RC_ENST00000455057.1_Silent_p.L497L	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	600	SEFIR.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCGAGCGCCTGGTGGGCGCCC	0.706000											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	11					0	0	0.001984	0	0
PTPRT	11122	broad.mit.edu	37	20	40877330	40877330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:40877330C>T	ENST00000373198.3	-	15	2601	c.2366G>A	c.(2365-2367)aGg>aAg	p.R789K	PTPRT_ENST00000373187.1_Missense_Mutation_p.R770K|PTPRT_ENST00000356100.2_Missense_Mutation_p.R789K|PTPRT_ENST00000373193.3_Missense_Mutation_p.R770K|PTPRT_ENST00000373190.1_Missense_Mutation_p.R770K|PTPRT_ENST00000373201.1_Missense_Mutation_p.R770K|PTPRT_ENST00000373184.1_Missense_Mutation_p.R770K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	770					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GACTCACCTCCTTTTGATGGT	0.547000													33	41					0	0	0.003271	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534540	3534540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:3534540C>T	ENST00000315677.3	-	10	2726	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	DLGAP1_ENST00000400155.1_Missense_Mutation_p.E417K|DLGAP1_ENST00000400147.2_Missense_Mutation_p.E409K|DLGAP1_ENST00000534970.1_Missense_Mutation_p.E395K|DLGAP1_ENST00000400145.2_Missense_Mutation_p.E409K|DLGAP1_ENST00000584874.1_Missense_Mutation_p.E711K|DLGAP1_ENST00000515196.2_Missense_Mutation_p.E711K|DLGAP1_ENST00000581699.1_Missense_Mutation_p.E417K|DLGAP1_ENST00000400149.3_Missense_Mutation_p.E401K|DLGAP1_ENST00000400150.3_Missense_Mutation_p.E427K|DLGAP1_ENST00000581527.1_Missense_Mutation_p.E711K|DLGAP1_ENST00000539435.1_Missense_Mutation_p.E419K	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	711					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGAGAATTTTCCAGATTATCA	0.502000													17	9					0	0	0.004990	0	0
MYF5	4617	broad.mit.edu	37	12	81111074	81111074	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:81111074A>C	ENST00000228644.3	+	1	384	c.232A>C	c.(232-234)Aag>Cag	p.K78Q		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	78					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CTGCAAGAGGAAGTCCACCAC	0.622000													3	15					0	0	0.004672	0	0
SYNM	23336	broad.mit.edu	37	15	99672376	99672376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:99672376G>A	ENST00000336292.6	+	5	3928	c.3808G>A	c.(3808-3810)Gaa>Aaa	p.E1270K	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1271	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGGCCCTAAAGAAGGGTTCAG	0.512000													49	2					0	0	0.014410	0	0
SECISBP2	79048	broad.mit.edu	37	9	91961818	91961818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:91961818C>T	ENST00000375807.3	+	11	1528	c.1457C>T	c.(1456-1458)tCc>tTc	p.S486F	SECISBP2_ENST00000339901.4_Missense_Mutation_p.S413F|SECISBP2_ENST00000534113.2_Missense_Mutation_p.S418F	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	486					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCAGTCCTTTCCAAAGAATGT	0.592000													27	19					0	0	0.010818	0	0
WTAP	9589	broad.mit.edu	37	6	160163129	160163129	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:160163129A>T	ENST00000358372.4	+	4	1853	c.96A>T	c.(94-96)caA>caT	p.Q32H	WTAP_ENST00000337387.4_Missense_Mutation_p.Q32H|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	32					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GATGGAAACAATATGAAGCAT	0.279000													29	22					0	0	0.013726	0	0
ATAD3B	83858	broad.mit.edu	37	1	1417677	1417677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:1417677C>T	ENST00000308647.7	+	6	790	c.674C>T	c.(673-675)tCc>tTc	p.S225F	ATAD3B_ENST00000378736.2_3'UTR|ATAD3B_ENST00000378741.3_Missense_Mutation_p.S57F	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	225							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTCTTGGAGTCCATCAGGTGA	0.697000													9	26					0	0	0.010729	0	0
GNAZ	2781	broad.mit.edu	37	22	23438415	23438415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:23438415C>T	ENST00000248996.4	+	2	1199	c.533C>T	c.(532-534)tCc>tTc	p.S178F	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	178						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATCCTGCGCTCCCGGGACATG	0.592000													26	27					0	0	0.006320	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336468	30336468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:30336468C>T	ENST00000375377.1	-	2	375	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	92										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TACCCCGCCTCCGAGGTTCTG	0.557000													14	18					0	0	0.004990	0	0
CCDC129	223075	broad.mit.edu	37	7	31683223	31683223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:31683223G>A	ENST00000319386.3	+	11	2788	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	CCDC129_ENST00000451887.2_Missense_Mutation_p.E773K|CCDC129_ENST00000409210.1_Missense_Mutation_p.E655K|CCDC129_ENST00000407970.3_Missense_Mutation_p.E747K			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	747										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TACCGCAACAGAAACAAGACT	0.527000													49	2					0	0	0.014410	0	0
ZBED1	9189	broad.mit.edu	37	X	2406848	2406848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:2406848G>A	ENST00000381223.4	-	2	2116	c.1913C>T	c.(1912-1914)cCc>cTc	p.P638L	ZBED1_ENST00000381222.2_Missense_Mutation_p.P638L|RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381218.3_Missense_Mutation_p.P638L|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	638						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				CACGTGCGCGGGAGCCAGCCG	0.682000													66	78					0	0	0.014410	0	0
GPR158	57512	broad.mit.edu	37	10	25888112	25888112	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:25888112G>T	ENST00000376351.3	+	11	3916	c.3557G>T	c.(3556-3558)aGa>aTa	p.R1186I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1186						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AATGCTGGAAGAAGTGTAGCT	0.448000													13	17					1.05317e-09	1.40341e-09	0.002450	1	0
DOK7	285489	broad.mit.edu	37	4	3495006	3495006	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:3495006C>T	ENST00000340083.5	+	7	1358	c.1293C>T	c.(1291-1293)gcC>gcT	p.A431A	DOK7_ENST00000389653.2_Silent_p.A431A|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	431					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACAGTGCGGCCAGGGACTCAG	0.721000													9	8					0	0	0.004482	0	0
SLC9C2	284525	broad.mit.edu	37	1	173516897	173516897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:173516897C>T	ENST00000367714.3	-	13	1910	c.1488G>A	c.(1486-1488)atG>atA	p.M496I	SLC9C2_ENST00000536496.1_Missense_Mutation_p.M394I|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	496					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATTCTGTCTTCATATCATTAT	0.333000													16	13					0	0	0.006122	0	0
CCDC135	84229	broad.mit.edu	37	16	57752309	57752309	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:57752309G>A	ENST00000360716.3	+	9	1349	c.1128G>A	c.(1126-1128)ctG>ctA	p.L376L	CCDC135_ENST00000394337.4_Silent_p.L376L|CCDC135_ENST00000336825.8_Silent_p.L311L			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	376						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACATGCTCCTGGGGACTGATA	0.527000													74	5					0	0	0.014410	0	0
C6	729	broad.mit.edu	37	5	41195918	41195918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:41195918G>A	ENST00000263413.3	-	5	827	c.563C>T	c.(562-564)cCt>cTt	p.P188L	C6_ENST00000337836.5_Missense_Mutation_p.P188L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	188	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTACACTAGGGATGGGATT	0.423000													33	28					0	0	0.003271	0	0
CCNH	902	broad.mit.edu	37	5	86690823	86690823	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:86690823A>T	ENST00000508855.1	-	7	801	c.749T>A	c.(748-750)tTg>tAg	p.L250*	CCNH_ENST00000256897.4_Intron|CCNH_ENST00000504878.1_Intron			P51946	CCNH_HUMAN	cyclin H	0					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		AATGTATAACAAAAATAACTT	0.343000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					52	53					0	0	0.014410	0	0
LYN	4067	broad.mit.edu	37	8	56879362	56879362	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:56879362C>T	ENST00000520220.2	+	9	1090	c.816C>T	c.(814-816)ctC>ctT	p.L272L	LYN_ENST00000519728.1_Silent_p.L293L|LYN_ENST00000420292.1_3'UTR	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	293	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AAGCCAACCTCATGAAGACCC	0.507000													16	26					0	0	0.004990	0	0
RNF123	63891	broad.mit.edu	37	3	49743009	49743009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49743009C>T	ENST00000327697.6	+	24	2345	c.2201C>T	c.(2200-2202)cCc>cTc	p.P734L	RNF123_ENST00000432042.1_Missense_Mutation_p.P588L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	734						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTGGGGCGGCCCCCCGAGGAG	0.652000													5	22					0	0	0.001168	0	0
NNMT	4837	broad.mit.edu	37	11	114167419	114167419	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:114167419G>A	ENST00000535401.1	+	3	405	c.141G>A	c.(139-141)aaG>aaA	p.K47K	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Silent_p.K47K			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	47					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	ATCTTTTCAAGATATTCTGCC	0.418000													32	30					0	0	0.004289	0	0
NDNF	79625	broad.mit.edu	37	4	121957991	121957991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:121957991G>A	ENST00000379692.4	-	4	1661	c.1135C>T	c.(1135-1137)Cac>Tac	p.H379Y		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	379										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGACAAGAGTGAATAAAGAAG	0.408000													7	36					0	0	0.001984	0	0
RALGDS	5900	broad.mit.edu	37	9	135982602	135982602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:135982602G>A	ENST00000393160.3	-	7	1471	c.1118C>T	c.(1117-1119)cCc>cTc	p.P373L	RALGDS_ENST00000372050.3_Missense_Mutation_p.P428L|RALGDS_ENST00000372062.3_Missense_Mutation_p.P399L|RALGDS_ENST00000393157.3_Missense_Mutation_p.P427L|RALGDS_ENST00000372047.3_Missense_Mutation_p.P416L|RALGDS_ENST00000542690.1_Missense_Mutation_p.P499L|RALGDS_ENST00000469972.1_5'UTR	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	428					nerve growth factor receptor signaling pathway|Ras protein signal transduction|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)		GCGGATGGTGGGCGCCAGGTG	0.627000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								6	21					0	0	0.001984	0	0
RUVBL2	10856	broad.mit.edu	37	19	49506557	49506557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:49506557G>A	ENST00000595090.1	+	3	553	c.89G>A	c.(88-90)gGa>gAa	p.G30E	RUVBL2_ENST00000601968.1_5'UTR|RUVBL2_ENST00000413176.2_5'UTR	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	30					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CACATCCGGGGACTGGGGCTG	0.602000													22	41					0	0	0.005443	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563998	176563998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:176563998C>T	ENST00000367662.3	+	3	2422	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R420C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	420					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						GCACTATTTCCGTGGACACCT	0.567000													16	65					0	0	0.004990	0	0
ZNF487	642819	broad.mit.edu	37	10	43971179	43971179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:43971179C>T	ENST00000431662.1	+	2	113	c.113C>T	c.(112-114)tCc>tTc	p.S38F	ZNF487_ENST00000437590.2_5'UTR																							GGATCAGTGTCCTTCAGTGAT	0.488000													5	9					0	0	0.001168	0	0
NLRP9	338321	broad.mit.edu	37	19	56243935	56243935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56243935G>A	ENST00000332836.2	-	2	1289	c.1262C>T	c.(1261-1263)tCt>tTt	p.S421F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	421	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCAGACTCAGATAACCCATT	0.498000													36	46					0	0	0.003755	0	0
LAMA4	3910	broad.mit.edu	37	6	112435333	112435333	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:112435333G>A	ENST00000230538.7	-	38	5669	c.5272C>T	c.(5272-5274)Ctg>Ttg	p.L1758L	LAMA4_ENST00000424408.2_Silent_p.L1751L|LAMA4_ENST00000389463.4_Silent_p.L1751L|LAMA4_ENST00000522006.1_Silent_p.L1751L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1758	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTGGATTCAGGGGTCCAACC	0.428000													28	24					0	0	0.004656	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686708	108686708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:108686708G>A	ENST00000312143.7	-	3	395	c.32C>T	c.(31-33)tCc>tTc	p.S11F	CMKLR1_ENST00000550402.1_Missense_Mutation_p.S11F|CMKLR1_ENST00000552995.1_Missense_Mutation_p.S9F|CMKLR1_ENST00000397688.2_Missense_Mutation_p.S9F|CMKLR1_ENST00000412676.1_Missense_Mutation_p.S11F	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	11					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTAACTGATGGAAGTGTTGTA	0.463000													7	15					0	0	0.003080	0	0
FRAS1	80144	broad.mit.edu	37	4	79403689	79403689	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:79403689G>A	ENST00000264895.6	+	58	9192	c.8752_splice	c.e58+1	p.V2918_splice		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2913	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTCCAAGATGGTAAGAGATT	0.418000													36	22					0	0	0.006999	0	0
FLT3	2322	broad.mit.edu	37	13	28597565	28597565	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:28597565C>T	ENST00000380982.4	-	19	2421	c.2340G>A	c.(2338-2340)ttG>ttA	p.L780L	FLT3_ENST00000241453.7_Silent_p.L780L|FLT3_ENST00000537084.1_Silent_p.L780L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	780	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TAAGCACATTCAAGTCCTCCT	0.353000			"""Mis, O"""		"""AML, ALL"""								24	23					0	0	0.002780	0	0
SEL1L	6400	broad.mit.edu	37	14	81964266	81964266	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:81964266G>A	ENST00000336735.4	-	10	1214	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	366	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTTCAGCTAGGAACTGGTAAT	0.413000													18	24					0	0	0.006122	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027423	55027423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:55027423C>T	ENST00000324000.3	+	4	3092	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	353					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TGGCAGGAGTCCCACCAGCTG	0.493000													9	5					0	0	0.004482	0	0
EPB41L1	2036	broad.mit.edu	37	20	34807691	34807691	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:34807691G>A	ENST00000338074.2	+	19	2525	c.2364G>A	c.(2362-2364)ggG>ggA	p.G788G	EPB41L1_ENST00000441639.1_Silent_p.G686G|EPB41L1_ENST00000373941.1_Silent_p.G787G|EPB41L1_ENST00000373950.2_Silent_p.G679G|EPB41L1_ENST00000373946.3_Silent_p.G608G|EPB41L1_ENST00000202028.5_Silent_p.G686G	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	788	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGATCATCGGGAAAGATGTCC	0.607000													32	49					0	0	0.004878	0	0
FRG2B	441581	broad.mit.edu	37	10	135440205	135440205	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:135440205G>A	ENST00000443774.1	-	1	91	c.42C>T	c.(40-42)tcC>tcT	p.S14S	FRG2B_ENST00000425520.1_Silent_p.S14S			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	14						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGCACTGGATGGAGGAGCAGT	0.507000													22	174					0	0	0.008361	0	0
TTC3	7267	broad.mit.edu	37	21	38539913	38539913	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:38539913G>A	ENST00000399017.2	+	34	7205	c.4458G>A	c.(4456-4458)gaG>gaA	p.E1486E	TTC3_ENST00000355666.1_Silent_p.E1486E|TTC3_ENST00000354749.2_Silent_p.E1486E|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1486					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATCCTTTTGAGGAACGACAAG	0.318000													21	20					0	0	0.003954	0	0
KLKB1	3818	broad.mit.edu	37	4	187179212	187179212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:187179212G>A	ENST00000513864.1	+	14	1694	c.1623G>A	c.(1621-1623)tgG>tgA	p.W541*	KLKB1_ENST00000264690.6_Missense_Mutation_p.G588E			P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	0	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AAACACAATGGAATGTGGCGT	0.478000													69	53					0	0	0.014410	0	0
TRAV7	28686	broad.mit.edu	37	14	22251683	22251683	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:22251683G>A	ENST00000390429.3	+	0	300																											CAGCCGTGCAGCCTGAAGATT	0.443000													17	15					0	0	0.006122	0	0
FRMD4B	23150	broad.mit.edu	37	3	69245538	69245538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:69245538G>A	ENST00000542259.1	-	15	1391	c.940C>T	c.(940-942)Cct>Tct	p.P314S	FRMD4B_ENST00000398540.3_Missense_Mutation_p.P368S|FRMD4B_ENST00000478263.1_Missense_Mutation_p.P20S			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	368	FERM.					cytoplasm|cytoskeleton	binding	p.P314S(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTGGCTGAAGGAATTTTTGCC	0.363000													29	15					0	0	0.009535	0	0
NEBL	10529	broad.mit.edu	37	10	21097533	21097533	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:21097533G>A	ENST00000377122.4	-	26	3063	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	889	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACCTGTACCGAAAGTACTGC	0.463000													37	39					0	0	0.004878	0	0
PPIH	10465	broad.mit.edu	37	1	43130569	43130569	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:43130569G>A	ENST00000455203.2	+	4	578	c.150G>A	c.(148-150)ggG>ggA	p.G50G	PPIH_ENST00000372550.1_Silent_p.G50G|PPIH_ENST00000304979.3_Silent_p.G93G			O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	93	PPIase cyclophilin-type.				protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	TTTACCGGGGGCCATTTGCAG	0.488000													10	41					0	0	0.013537	0	0
ABCC1	4363	broad.mit.edu	37	16	16200668	16200668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:16200668G>A	ENST00000399408.2	+	22	3014	c.2839G>A	c.(2839-2841)Gct>Act	p.A947T	ABCC1_ENST00000346370.5_Missense_Mutation_p.A881T|ABCC1_ENST00000399410.3_Missense_Mutation_p.A937T|ABCC1_ENST00000576557.1_3'UTR|ABCC1_ENST00000349029.5_Missense_Mutation_p.A822T|ABCC1_ENST00000351154.5_Missense_Mutation_p.A878T|ABCC1_ENST00000345148.5_Missense_Mutation_p.A937T			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	937					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACTGCAGAAAGCTGAGGCCAA	0.562000													30	25					0	0	0.003755	0	0
ZNF7	7553	broad.mit.edu	37	8	146066810	146066810	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:146066810G>A	ENST00000528372.1	+	5	558	c.318G>A	c.(316-318)ggG>ggA	p.G106G	ZNF7_ENST00000544249.1_Silent_p.G10G|ZNF7_ENST00000325241.6_Silent_p.G106G|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000446747.2_Silent_p.G117G|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	106					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AATCCTATGGGACAGTGGTCA	0.468000													41	91					0	0	0.010771	0	0
OR5B2	390190	broad.mit.edu	37	11	58190695	58190695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:58190695C>T	ENST00000302581.2	-	1	91	c.40G>A	c.(40-42)Gga>Aga	p.G14R		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGGTTAGTCCTAGAAGAATG	0.418000													8	9					0	0	0.004482	0	0
DOCK2	1794	broad.mit.edu	37	5	169174492	169174492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:169174492C>T	ENST00000256935.8	+	23	2440	c.2360C>T	c.(2359-2361)aCt>aTt	p.T787I	DOCK2_ENST00000520908.1_Missense_Mutation_p.T279I|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	787					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAATACAAAACTACCATCCTT	0.358000													10	17					0	0	0.010729	0	0
CAPN13	92291	broad.mit.edu	37	2	30987153	30987153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:30987153C>T	ENST00000295055.8	-	6	720	c.544G>A	c.(544-546)Gat>Aat	p.D182N	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.D182N	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	182	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TAGTGCAGATCGGAATAGGAT	0.587000													13	7					0	0	0.003163	0	0
KRT24	192666	broad.mit.edu	37	17	38856510	38856510	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:38856510T>G	ENST00000264651.2	-	4	1037	c.981A>C	c.(979-981)caA>caC	p.Q327H		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	327	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTCGGCGGTTTTGCTCAGCCA	0.562000													79	90					0	0	0.014410	0	0
OR6B1	135946	broad.mit.edu	37	7	143701623	143701623	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:143701623C>T	ENST00000408922.2	+	1	602	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ACCACTTCTTCTGTGACATCT	0.488000													18	14					0	0	0.007413	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865916	140865916	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140865916C>T	ENST00000306593.1	+	1	1176	c.1176C>T	c.(1174-1176)caC>caT	p.H392H	PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTGACCACTTGCCATTTG	0.547000													20	27					0	0	0.008871	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390454	38390454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:38390454C>T	ENST00000329553.2	+	4	730	c.520C>T	c.(520-522)Ccg>Tcg	p.P174S	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		GGGGGAGGGTCCGCTCCCTCA	0.632000													14	42					0	0	0.004990	0	0
CDH9	1007	broad.mit.edu	37	5	26881371	26881371	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:26881371A>T	ENST00000231021.4	-	12	2416	c.2244T>A	c.(2242-2244)gaT>gaA	p.D748E		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	748					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						AACTGAGCGAATCTGCTATGG	0.433000													7	3					0	0	0.006214	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546603	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:21546603T>G	ENST00000298694.4	+	10	2329	c.2202T>G	c.(2200-2202)gaT>gaG	p.D734E	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.D734E			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	734					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCA	0.632000													30	52					0	0	0.004289	0	0
ERBB2	2064	broad.mit.edu	37	17	37880219	37880219	+	Missense_Mutation	SNP	T	T	A	rs121913469		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:37880219T>A	ENST00000406381.2	+	21	2683	c.2173T>A	c.(2173-2175)Ttg>Atg	p.L725M	ERBB2_ENST00000540147.1_Missense_Mutation_p.L725M|ERBB2_ENST00000445658.2_Missense_Mutation_p.L479M|ERBB2_ENST00000541774.1_Missense_Mutation_p.L740M|ERBB2_ENST00000269571.5_Missense_Mutation_p.L755M|ERBB2_ENST00000584601.1_Missense_Mutation_p.L725M|ERBB2_ENST00000584450.1_Missense_Mutation_p.L755M	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	755	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L755P(2)|p.L755_S760>A(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CATCAAAGTGTTGAGGGAAAA	0.532000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			20	25					0	0	0.002780	0	0
CFB	629	broad.mit.edu	37	6	31915290	31915290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:31915290C>T	ENST00000456570.1	+	16	2211	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F	CFB_ENST00000477310.1_Missense_Mutation_p.S568F|CFB_ENST00000556679.1_Missense_Mutation_p.S719F|CFB_ENST00000425368.2_Missense_Mutation_p.S217F			P00751	CFAB_HUMAN	complement factor B	217	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACGGAGCCTTCCTGCCAAGGT	0.602000													90	54					0	0	0.014410	0	0
ANK3	288	broad.mit.edu	37	10	61834223	61834223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:61834223G>A	ENST00000280772.1	-	37	6607	c.6416C>T	c.(6415-6417)tCa>tTa	p.S2139L	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2139					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						TTGTGGGGCTGAAGGTGTCTT	0.423000													35	31					0	0	0.003755	0	0
P2RY8	286530	broad.mit.edu	37	X	1585082	1585082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:1585082C>T	ENST00000381297.4	-	2	580	c.370G>A	c.(370-372)Ggg>Agg	p.G124R		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	124						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				TACAGGACCCCCAGGAAGCGC	0.637000			T	CRLF2	"""B-ALL, Downs associated ALL"""								6	11					0	0	0.006214	0	0
TBCD	6904	broad.mit.edu	37	17	80763835	80763835	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:80763835C>T	ENST00000355528.4	+	10	1165	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.T345T	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	345					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TCATCCTGACcgaagatgacg	0.607000													16	1					0	0	0.008871	0	0
SOS2	6655	broad.mit.edu	37	14	50626282	50626282	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:50626282A>G	ENST00000216373.5	-	10	1993	c.1719T>C	c.(1717-1719)taT>taC	p.Y573Y	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Silent_p.Y540Y	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	573					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTACAAAACGATATACTTCAG	0.343000													37	59					0	0	0.007835	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159337	118159337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:118159337G>A	ENST00000427715.2	+	5	503	c.69G>A	c.(67-69)tgG>tgA	p.W23*	SLC30A8_ENST00000521243.1_Nonsense_Mutation_p.W23*|SLC30A8_ENST00000456015.2_Nonsense_Mutation_p.W72*|SLC30A8_ENST00000519688.1_Nonsense_Mutation_p.W23*	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	72					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATGCCAAGTGGAAACTCTGTT	0.483000													28	83					0	0	0.007291	0	0
NLRP1	22861	broad.mit.edu	37	17	5424894	5424894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:5424894C>T	ENST00000345221.3	-	13	4287	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K	NLRP1_ENST00000577119.1_Missense_Mutation_p.E1215K|NLRP1_ENST00000262467.5_Missense_Mutation_p.E1249K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E1215K|NLRP1_ENST00000572272.1_Missense_Mutation_p.E1245K|NLRP1_ENST00000269280.4_Missense_Mutation_p.E1245K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1245					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AAGGTGACTTCCTCAGGATGG	0.547000													17	21					0	0	0.004990	0	0
SPTBN4	57731	broad.mit.edu	37	19	41038583	41038583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41038583G>A	ENST00000352632.3	+	19	4086	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K	SPTBN4_ENST00000598249.1_Missense_Mutation_p.E1334K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E1334K|SPTBN4_ENST00000392023.1_Missense_Mutation_p.E10K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E1334K|SPTBN4_ENST00000392025.1_Missense_Mutation_p.E77K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1334					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCACGCGGGAGGACAACCA	0.607000													19	26					0	0	0.012319	0	0
MMRN1	22915	broad.mit.edu	37	4	90857593	90857593	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:90857593A>G	ENST00000394980.1	+	7	3081	c.2762A>G	c.(2761-2763)aAc>aGc	p.N921S	MMRN1_ENST00000508372.1_Missense_Mutation_p.N663S|MMRN1_ENST00000264790.2_Missense_Mutation_p.N921S|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	921					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTTCGCTTAACAAAACTCTC	0.378000													3	12					0	0	0.004672	0	0
ZNF768	79724	broad.mit.edu	37	16	30537210	30537210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:30537210G>A	ENST00000380412.5	-	2	426	c.251C>T	c.(250-252)cCg>cTg	p.P84L	ZNF768_ENST00000562803.1_Missense_Mutation_p.P53L	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	84	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CTCAAACCCCGGGCTTTCAGG	0.562000													27	29					0	0	0.005443	0	0
MYBPH	4608	broad.mit.edu	37	1	203144731	203144731	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:203144731G>A	ENST00000255416.4	-	1	210	c.153C>T	c.(151-153)gcC>gcT	p.A51A		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	51					cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGGCCTGTGGGGCAGGGGCCT	0.642000													123	64					0	0	0.014410	0	0
HKDC1	80201	broad.mit.edu	37	10	71005962	71005962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:71005962G>A	ENST00000354624.5	+	8	1136	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	HKDC1_ENST00000395086.2_Missense_Mutation_p.E335K	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	335					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCAAGATCGAAACACGGCA	0.582000													28	23					0	0	0.010818	0	0
PLD2	5338	broad.mit.edu	37	17	4721629	4721629	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4721629T>C	ENST00000263088.6	+	19	2089	c.1958T>C	c.(1957-1959)gTt>gCt	p.V653A	PLD2_ENST00000572940.1_Missense_Mutation_p.V653A	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	653	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GGGCGGACGGTTCTGAACAAG	0.572000													29	21					0	0	0.013726	0	0
PTPN21	11099	broad.mit.edu	37	14	88945379	88945379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:88945379G>A	ENST00000556564.1	-	13	2680	c.2396C>T	c.(2395-2397)tCc>tTc	p.S799F	PTPN21_ENST00000328736.3_Missense_Mutation_p.S799F	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	799						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGTGAGGTCGGACTCCGACAT	0.647000													39	43					0	0	0.006230	0	0
C1R	715	broad.mit.edu	37	12	7241295	7241295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:7241295C>T	ENST00000542285.1	-	7	1095	c.946G>A	c.(946-948)Gag>Aag	p.E316K				P00736	C1R_HUMAN	complement component 1, r subcomponent	317	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGTGAACTCGTCTAGGGTC	0.532000													8	5					0	0	0.004482	0	0
MARCH10	162333	broad.mit.edu	37	17	60837199	60837199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:60837199G>A	ENST00000544856.2	-	5	757	c.379C>T	c.(379-381)Cca>Tca	p.P127S	MARCH10_ENST00000583600.1_Missense_Mutation_p.P127S|MARCH10_ENST00000456609.2_Missense_Mutation_p.P127S|MARCH10_ENST00000311269.5_Missense_Mutation_p.P127S			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	127							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CACTCACCTGGAGAGGGTTCG	0.458000													34	37					0	0	0.006999	0	0
CACNA1C	775	broad.mit.edu	37	12	2690825	2690825	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:2690825C>T	ENST00000399655.1	+	14	2230	c.1965C>T	c.(1963-1965)ctC>ctT	p.L655L	CACNA1C_ENST00000399606.1_Silent_p.L655L|CACNA1C_ENST00000399603.1_Silent_p.L655L|CACNA1C_ENST00000399617.1_Silent_p.L655L|CACNA1C_ENST00000344100.3_Silent_p.L655L|CACNA1C_ENST00000347598.4_Silent_p.L655L|CACNA1C_ENST00000335762.5_Silent_p.L680L|CACNA1C_ENST00000399597.1_Silent_p.L655L|CACNA1C_ENST00000402845.3_Silent_p.L655L|CACNA1C_ENST00000399634.1_Silent_p.L655L|CACNA1C_ENST00000327702.7_Silent_p.L655L|CACNA1C_ENST00000480911.1_Silent_p.L655L|CACNA1C_ENST00000399649.1_Silent_p.L655L|CACNA1C_ENST00000399601.1_Silent_p.L655L|CACNA1C_ENST00000399595.1_Silent_p.L655L|CACNA1C_ENST00000399638.1_Silent_p.L655L|CACNA1C_ENST00000399644.1_Silent_p.L655L|CACNA1C_ENST00000399629.1_Silent_p.L655L|CACNA1C_ENST00000399621.1_Silent_p.L655L|CACNA1C_ENST00000399637.1_Silent_p.L655L|CACNA1C_ENST00000399641.1_Silent_p.L655L|CACNA1C_ENST00000406454.3_Silent_p.L655L|CACNA1C_ENST00000399591.1_Silent_p.L655L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	655	Poly-Leu.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCTCcctgctccttctcctct	0.547000													3	5					0	0	0.004672	0	0
EYA4	2070	broad.mit.edu	37	6	133595933	133595933	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:133595933G>A	ENST00000367895.5	+	2	479	c.15G>A	c.(13-15)caG>caA	p.Q5Q	EYA4_ENST00000355286.6_Silent_p.Q5Q|EYA4_ENST00000355167.3_Silent_p.Q5Q|EYA4_ENST00000525849.1_Silent_p.Q5Q|EYA4_ENST00000531901.1_Silent_p.Q5Q|EYA4_ENST00000431403.2_Silent_p.Q5Q|EYA4_ENST00000430974.2_Silent_p.Q5Q|EYA4_ENST00000452339.2_Silent_p.Q5Q	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	5					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AAGACTCCCAGGATTTAAATG	0.358000													18	30					0	0	0.014323	0	0
SLC2A9	56606	broad.mit.edu	37	4	9836517	9836517	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:9836517G>A	ENST00000506583.1	-	13	1537	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	SLC2A9_ENST00000264784.3_Silent_p.F469F|SLC2A9_ENST00000309065.3_Silent_p.F440F			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	469					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GAATGAATGGGAAGAGGAGCC	0.512000													4	21					0	0	0.009096	0	0
POTEH	23784	broad.mit.edu	37	22	16287524	16287524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:16287524C>T	ENST00000343518.6	-	1	413	c.362G>A	c.(361-363)gGa>gAa	p.G121E		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	121										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTCGTGGTCTCCAGAAGTGCC	0.587000													82	119					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179604834	179604834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179604834C>T	ENST00000589042.1	-	48	13350	c.13126G>A	c.(13126-13128)Gac>Aac	p.D4376N	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D4013N|TTN_ENST00000359218.5_Missense_Mutation_p.D4138N|TTN_ENST00000342175.6_Missense_Mutation_p.D4205N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D4059N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4059	Ig-like 23.						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)			GAAAGAAGGTCCCTTCCCTGT	0.478000													8	5					0	0	0.003080	0	0
KSR2	283455	broad.mit.edu	37	12	118199079	118199079	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:118199079C>T	ENST00000425217.1	-	4	690	c.636G>A	c.(634-636)ctG>ctA	p.L212L	KSR2_ENST00000339824.5_Silent_p.L241L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	241	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCCGACTCCAGTGGCGGGG	0.731000													8	23					0	0	0.004482	0	0
C6orf165	154313	broad.mit.edu	37	6	88138360	88138360	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:88138360T>A	ENST00000507897.1	+	9	1060	c.977T>A	c.(976-978)cTt>cAt	p.L326H	C6ORF165_ENST00000369562.4_Missense_Mutation_p.L326H			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	326										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTCATTGCACTTTCTACTCTG	0.353000													64	61					0	0	0.014410	0	0
TCEB3CL	728929	broad.mit.edu	37	18	44549170	44549170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:44549170G>A	ENST00000451265.1	-	1	1364	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						TTCTCTGTGCGGTACGGCTGA	0.572000													14	189					0	0	0.014323	0	0
VIPR1	7433	broad.mit.edu	37	3	42573302	42573302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:42573302G>A	ENST00000433647.1	+	10	1360	c.736G>A	c.(736-738)Gac>Aac	p.D246N	VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000325123.4_Missense_Mutation_p.D287N|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.D239N|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1_ENST00000438259.2_Missense_Mutation_p.D77N	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	287					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CAGGTGCTGGGACACCATCAA	0.582000													12	59					0	0	0.004990	0	0
SLC38A4	55089	broad.mit.edu	37	12	47170749	47170749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:47170749G>A	ENST00000447411.1	-	12	1318	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	SLC38A4_ENST00000266579.4_Missense_Mutation_p.S371F	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	371					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)					CCCCGTGATGGAAATATTTGA	0.398000													10	4					0	0	0.010729	0	0
NOTUM	147111	broad.mit.edu	37	17	79914583	79914583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:79914583G>A	ENST00000409678.3	-	8	1314	c.931C>T	c.(931-933)Cag>Tag	p.Q311*		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	311						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCGCCCTCCTGGAACTGGCGT	0.682000													26	0					0	0	0.008361	0	0
FCGR2B	2213	broad.mit.edu	37	1	161645091	161645091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:161645091C>T	ENST00000367962.4	+	6	932	c.805C>T	c.(805-807)Cct>Tct	p.P269S	FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Missense_Mutation_p.P262S|FCGR2B_ENST00000367961.4_Missense_Mutation_p.P262S|FCGR2B_ENST00000358671.5_Missense_Mutation_p.P269S|FCGR2B_ENST00000236937.9_Intron			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	269					immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGAGACCCTCCCTGAGAAACC	0.597000			T	?	ALL								18	5					0	0	0.014323	0	0
NOD1	10392	broad.mit.edu	37	7	30492343	30492343	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:30492343G>T	ENST00000222823.4	-	6	1215	c.690C>A	c.(688-690)ttC>ttA	p.F230L	NOD1_ENST00000423334.2_Intron	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	230	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGTGGAAGAAGAATTTGACCC	0.592000													53	3					3.10996e-30	4.18616e-30	0.014410	1	0
ITGAM	3684	broad.mit.edu	37	16	31308949	31308949	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:31308949G>T	ENST00000544665.3	+	13	1542	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	ITGAM_ENST00000287497.8_Missense_Mutation_p.V491L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	491					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGGGGGCCAGGTGTCCGTGTG	0.706000													27	32					2.65835e-16	3.56263e-16	0.007291	1	0
CBX2	84733	broad.mit.edu	37	17	77758489	77758489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:77758489C>T	ENST00000310942.4	+	5	1351	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	416					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AAGCTGGCTTCCAGAGCAGTG	0.672000													9	12					0	0	0.006214	0	0
MYH7B	57644	broad.mit.edu	37	20	33581265	33581265	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:33581265G>A	ENST00000262873.7	+	24	2654	c.2562G>A	c.(2560-2562)ctG>ctA	p.L854L		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	812						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCGCCTGCTGGGAGGCAGGT	0.677000													6	2					0	0	0.001984	0	0
KPRP	448834	broad.mit.edu	37	1	152732594	152732594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:152732594G>A	ENST00000368773.1	+	2	588	c.530G>A	c.(529-531)aGa>aAa	p.R177K	KPRP_ENST00000606109.1_Missense_Mutation_p.R177K	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	177	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCAGGGAAGATTCTCCACC	0.542000													23	55					0	0	0.012319	0	0
RNMT	8731	broad.mit.edu	37	18	13731719	13731719	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:13731719A>C	ENST00000383314.2	+	3	443	c.203A>C	c.(202-204)aAg>aCg	p.K68T	RNMT_ENST00000535051.1_Intron|RNMT_ENST00000262173.3_Missense_Mutation_p.K68T|RNMT_ENST00000589866.1_Missense_Mutation_p.K68T|RNMT_ENST00000592764.1_Missense_Mutation_p.K68T|RNMT_ENST00000543302.2_Missense_Mutation_p.K68T			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	68					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GATCTTGTAAAGGAAAGTTCT	0.408000													66	36					0	0	0.014410	0	0
SLC27A5	10998	broad.mit.edu	37	19	59012679	59012679	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:59012679G>A	ENST00000263093.2	-	4	1265	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	SLC27A5_ENST00000601355.1_Silent_p.L302L	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	386					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AAGTACCGCAGGAGCTCGCCC	0.527000													59	65					0	0	0.014410	0	0
NBAS	51594	broad.mit.edu	37	2	15615878	15615878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:15615878G>A	ENST00000281513.5	-	14	1299	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	NBAS_ENST00000441750.1_Missense_Mutation_p.S425F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	425										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCATTCACAGGATTTTCCCAG	0.413000													21	21					0	0	0.012319	0	0
TFRC	7037	broad.mit.edu	37	3	195791241	195791241	+	Silent	SNP	G	G	A	rs142218775	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:195791241G>A	ENST00000360110.4	-	11	1426	c.1257C>T	c.(1255-1257)tcC>tcT	p.S419S	TFRC_ENST00000420415.1_Silent_p.S338S|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.S137S|TFRC_ENST00000392396.3_Silent_p.S419S	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	419					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TGCCTACACCGGATTTTGCAG	0.398000			T	BCL6	NHL								12	31					0	0	0.013537	0	0
SUN5	140732	broad.mit.edu	37	20	31571638	31571638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:31571638C>T	ENST00000356173.3	-	13	1194	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	SUN5_ENST00000375523.3_Missense_Mutation_p.E343K	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	368					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TGAGGCTGCTCTCTGGGCGGG	0.542000													67	66					0	0	0.014410	0	0
NUCKS1	64710	broad.mit.edu	37	1	205687458	205687458	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:205687458T>A	ENST00000367142.4	-	7	984	c.682A>T	c.(682-684)Aaa>Taa	p.K228*		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	228						nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCCCAGATTTCTCGGGTGGG	0.433000													35	104					0	0	0.003755	0	0
TRANK1	9881	broad.mit.edu	37	3	36884118	36884118	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:36884118A>T	ENST00000301807.6	-	17	5390	c.3493T>A	c.(3493-3495)Tgg>Agg	p.W1165R	TRANK1_ENST00000428977.2_Missense_Mutation_p.W1165R|TRANK1_ENST00000429976.2_Missense_Mutation_p.W1715R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1715					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						CTTACCTTCCAGCACTGGTGC	0.498000													6	17					0	0	0.003080	0	0
SETDB1	9869	broad.mit.edu	37	1	150923259	150923259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:150923259C>T	ENST00000271640.5	+	13	2096	c.1906C>T	c.(1906-1908)Cgg>Tgg	p.R636W	SETDB1_ENST00000368969.4_Missense_Mutation_p.R636W|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	636	MBD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTCTGCCTTCGGACAATGCA	0.493000													21	71					0	0	0.014323	0	0
SOGA3	387104	broad.mit.edu	37	6	127797247	127797247	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:127797247G>A	ENST00000556132.1	-	6	2788	c.1924C>T	c.(1924-1926)Ctg>Ttg	p.L642L	SOGA3_ENST00000481848.2_Silent_p.L642L|SOGA3_ENST00000368268.2_Silent_p.L642L|SOGA3_ENST00000465909.2_Silent_p.L642L|SOGA3_ENST00000525778.1_Silent_p.L642L	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	642						integral to membrane											AGCTCCGACAGGGATTCGCTC	0.642000													32	33					0	0	0.013726	0	0
ENO1	2023	broad.mit.edu	37	1	8925417	8925417	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:8925417G>A	ENST00000234590.4	-	8	911	c.792C>T	c.(790-792)ccC>ccT	p.P264P		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	264					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGGGGTCATCGGGAGACTTGA	0.562000													32	26					0	0	0.003271	0	0
SCN9A	6335	broad.mit.edu	37	2	167142945	167142945	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:167142945C>T	ENST00000303354.6	-	11	1846	c.1506G>A	c.(1504-1506)tcG>tcA	p.S502S	SCN9A_ENST00000409435.1_Silent_p.S501S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.S501S|SCN9A_ENST00000375387.4_Silent_p.S502S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	501						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S501S(1)		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)	ATTCTGATTTCGACAATTTCT	0.428000													26	53					0	0	0.008361	0	0
GPC6	10082	broad.mit.edu	37	13	95055327	95055327	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:95055327G>A	ENST00000377047.4	+	9	2139	c.1524G>A	c.(1522-1524)acG>acA	p.T508T		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	508						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGTGTCCCACGGAGTTTGAGT	0.557000													65	69					0	0	0.014410	0	0
TEX10	54881	broad.mit.edu	37	9	103102591	103102591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:103102591G>A	ENST00000374902.4	-	5	1374	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	TEX10_ENST00000537512.1_Missense_Mutation_p.P335S|TEX10_ENST00000535814.1_Missense_Mutation_p.P403S	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	400						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AAGACATATGGAAAACGACTC	0.299000													28	95					0	0	0.013726	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24909953	24909953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:24909953G>A	ENST00000396432.2	-	9	1357	c.871C>T	c.(871-873)Cat>Tat	p.H291Y	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H78Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	290					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGACCTGTATGGTTGTTTCTA	0.403000													33	31					0	0	0.012213	0	0
TRPC3	7222	broad.mit.edu	37	4	122833183	122833183	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:122833183G>A	ENST00000264811.5	-	4	1606	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	TRPC3_ENST00000513531.1_Silent_p.F341F|TRPC3_ENST00000379645.3_Silent_p.F469F	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	384					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCAGACCCAGGAAGATGATGA	0.453000													10	24					0	0	0.006214	0	0
MCTP2	55784	broad.mit.edu	37	15	94986174	94986174	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:94986174G>A	ENST00000357742.4	+	18	2235	c.2235G>A	c.(2233-2235)gaG>gaA	p.E745E	MCTP2_ENST00000451018.3_Intron	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	745					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATGACGAGGAGGATGAAGATG	0.393000													43	3					0	0	0.014410	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131591	66131591	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:66131591C>T	ENST00000590019.1	-	0	298																											CTCGATGGTCCTGGACAGTAC	0.592000													17	8					0	0	0.004990	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926530	157926530	+	Silent	SNP	G	G	A	rs140538499	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:157926530G>A	ENST00000389413.3	-	9	1498	c.1395C>T	c.(1393-1395)ccC>ccT	p.P465P	PTPRN2_ENST00000389416.4_Silent_p.P448P|PTPRN2_ENST00000409483.1_Silent_p.P427P|PTPRN2_ENST00000389418.4_Silent_p.P465P|PTPRN2_ENST00000404321.2_Silent_p.P488P	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	465						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGCGGCCCCGGGCTCCGAAT	0.632000													30	33					0	0	0.012213	0	0
FAM47A	158724	broad.mit.edu	37	X	34150161	34150161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:34150161G>A	ENST00000346193.3	-	1	286	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	79										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GATATTTTGGGGAGTAAAAAC	0.537000													43	0					0	0	0.014410	0	0
FAT4	79633	broad.mit.edu	37	4	126389873	126389873	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:126389873A>T	ENST00000394329.3	+	11	12119	c.12106A>T	c.(12106-12108)Aga>Tga	p.R4036*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R2299*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4036	Laminin G-like 1.				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						AGAAAGACTAAGATTCTCTTA	0.433000													27	54					0	0	0.006320	0	0
LIFR	3977	broad.mit.edu	37	5	38482741	38482741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:38482741G>A	ENST00000263409.4	-	19	2782	c.2620C>T	c.(2620-2622)Cca>Tca	p.P874S	LIFR_ENST00000453190.2_Missense_Mutation_p.P874S	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	874					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCTGGATTTGGAATATCAGGG	0.234000			T	PLAG1	salivary adenoma								38	50					0	0	0.014410	0	0
PFKFB1	5207	broad.mit.edu	37	X	54978457	54978457	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:54978457A>G	ENST00000375006.3	-	8	797	c.727T>C	c.(727-729)Tac>Cac	p.Y243H	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.Y178H	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	243	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTCATGAGGTAGTAGACTGTG	0.557000													14	0					0	0	0.003163	0	0
FAM155A	728215	broad.mit.edu	37	13	108518260	108518260	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:108518260A>G	ENST00000375915.2	-	1	823	c.685T>C	c.(685-687)Tac>Cac	p.Y229H		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	229						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAAAGTGTGTAGGAATTACAA	0.567000													60	68					0	0	0.014410	0	0
GPR139	124274	broad.mit.edu	37	16	20043411	20043411	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20043411G>A	ENST00000570682.1	-	2	1008	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	236						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTGTGGCAAAGATGGAGGTAA	0.527000													35	37					0	0	0.003271	0	0
CD74	972	broad.mit.edu	37	5	149782795	149782795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:149782795C>T	ENST00000009530.7	-	7	707	c.706G>A	c.(706-708)Ggc>Agc	p.G236S	CD74_ENST00000377795.3_Intron|CD74_ENST00000353334.6_Intron|CD74_ENST00000524315.1_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	236	Thyroglobulin type-1.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATAGTTGCCGTTCTCGTCG	0.602000			T	ROS1	NSCLC								43	82					0	0	0.014410	0	0
FCRL5	83416	broad.mit.edu	37	1	157497523	157497523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:157497523C>T	ENST00000361835.3	-	9	2001	c.1844G>A	c.(1843-1845)gGa>gAa	p.G615E	FCRL5_ENST00000368191.3_Missense_Mutation_p.G530E|FCRL5_ENST00000356953.4_Missense_Mutation_p.G615E|FCRL5_ENST00000368190.3_Missense_Mutation_p.G615E	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	615	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGCTTCTCCTCCAGAGGGGGC	0.542000													44	17					0	0	0.010771	0	0
KCTD3	51133	broad.mit.edu	37	1	215793523	215793523	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:215793523T>C	ENST00000259154.4	+	18	2305	c.2011T>C	c.(2011-2013)Ttc>Ctc	p.F671L	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	671						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTATAGGGACTTCCAGACTAT	0.443000													16	4					0	0	0.004007	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957056	33957056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:33957056C>T	ENST00000361328.3	+	6	1351	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.P346S	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	400					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGGTACCTGCCCCTTCTATGA	0.602000													39	21					0	0	0.005524	0	0
ATP13A4	84239	broad.mit.edu	37	3	193156832	193156832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:193156832C>T	ENST00000342695.4	-	22	2864	c.2542G>A	c.(2542-2544)Gat>Aat	p.D848N	ATP13A4_ENST00000392443.3_Missense_Mutation_p.D829N	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	848					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTGGCTCCATCACCACACATA	0.393000													23	62					0	0	0.006320	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169936	32169936	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32169936G>A	ENST00000375023.3	-	21	3810	c.3672C>T	c.(3670-3672)ttC>ttT	p.F1224F		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1224					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.F1224F(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCCGTCCCGGAAGAGAAGCC	0.627000													85	65					0	0	0.014410	0	0
SNX29	92017	broad.mit.edu	37	16	12145990	12145990	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:12145990C>T	ENST00000566228.1	+	8	1104	c.1035C>T	c.(1033-1035)atC>atT	p.I345I		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGAAAAGCATCGATGATGAAG	0.478000													50	77					0	0	0.014410	0	0
FAM161A	84140	broad.mit.edu	37	2	62067598	62067598	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:62067598G>A	ENST00000404929.1	-	3	552	c.541C>T	c.(541-543)Cta>Tta	p.L181L	FAM161A_ENST00000405894.3_Silent_p.L181L	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	181					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCTTTTTCTAGGTTGGGTAAC	0.418000													43	51					0	0	0.011902	0	0
NEK9	91754	broad.mit.edu	37	14	75551278	75551278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:75551278G>A	ENST00000238616.5	-	22	3087	c.2929C>T	c.(2929-2931)Ccc>Tcc	p.P977S	NEK9_ENST00000555763.1_5'UTR	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	977					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TAGAGGCTGGGTCTACAGGAG	0.517000													65	94					0	0	0.014410	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236607	140236607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140236607G>A	ENST00000307360.5	+	1	974	c.974G>A	c.(973-975)gGa>gAa	p.G325E	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.G325E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGATAAGGGAAACCCACCT	0.403000													41	1					0	0	0.014410	0	0
SNAP91	9892	broad.mit.edu	37	6	84270587	84270587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:84270587C>T	ENST00000428679.2	-	27	3115	c.2522G>A	c.(2521-2523)gGa>gAa	p.G841E	SNAP91_ENST00000521743.1_Missense_Mutation_p.G841E|SNAP91_ENST00000369694.2_Missense_Mutation_p.G841E|SNAP91_ENST00000521485.1_Missense_Mutation_p.G836E|SNAP91_ENST00000437520.1_Missense_Mutation_p.G534E|SNAP91_ENST00000195649.6_Missense_Mutation_p.G836E|SNAP91_ENST00000439399.2_Missense_Mutation_p.G841E|SNAP91_ENST00000520213.1_Missense_Mutation_p.G534E|SNAP91_ENST00000520302.1_Missense_Mutation_p.G811E			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	841	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACTCACCATTCCAAATCCTGC	0.418000													13	21					0	0	0.003163	0	0
COL11A1	1301	broad.mit.edu	37	1	103488487	103488487	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:103488487C>T	ENST00000358392.2	-	8	1409	c.1092G>A	c.(1090-1092)agG>agA	p.R364R	COL11A1_ENST00000370096.3_Silent_p.R352R|COL11A1_ENST00000353414.4_Silent_p.R313R|COL11A1_ENST00000512756.1_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	352	Nonhelical 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)		CAGAATTTTTCCTCTGGGAAT	0.338000													9	31					0	0	0.006214	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996265	19996265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:19996265G>A	ENST00000391403.2	-	1	1613	c.1510C>T	c.(1510-1512)Ctc>Ttc	p.L504F		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	504						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGAGGATAGAGAGAAGCTCTC	0.522000													35	64					0	0	0.005524	0	0
AKR1A1	10327	broad.mit.edu	37	1	46034238	46034238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:46034238C>T	ENST00000372070.3	+	7	1381	c.634C>T	c.(634-636)Cct>Tct	p.P212S	AKR1A1_ENST00000351829.4_Missense_Mutation_p.P212S	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	212					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					TGCTTATAGCCCTTTGGGCTC	0.537000													12	44					0	0	0.010729	0	0
GTF2E1	2960	broad.mit.edu	37	3	120469688	120469688	+	Missense_Mutation	SNP	C	C	T	rs144112214	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:120469688C>T	ENST00000283875.5	+	2	382	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	97	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		CATCAATTATCGTACTCTTGT	0.408000													8	11					0	0	0.006214	0	0
SH2D3A	10045	broad.mit.edu	37	19	6759623	6759623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:6759623C>T	ENST00000245908.6	-	4	747	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	SH2D3A_ENST00000437152.3_Missense_Mutation_p.E38K|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	160					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GCGGGGTCTTCTCTTGACCGC	0.567000													55	86					0	0	0.014410	0	0
FLG2	388698	broad.mit.edu	37	1	152329780	152329780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:152329780C>T	ENST00000388718.5	-	3	554	c.482G>A	c.(481-483)aGg>aAg	p.R161K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	161	Ser-rich.						calcium ion binding|structural molecule activity	p.R161K(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCCTAGCCTCCTGGAGTT	0.488000													40	138					0	0	0.008740	0	0
COCH	1690	broad.mit.edu	37	14	31355241	31355241	+	Silent	SNP	G	G	A	rs150529026		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:31355241G>A	ENST00000460581.2	+	9	1410	c.864G>A	c.(862-864)tcG>tcA	p.S288S	COCH_ENST00000475087.1_Silent_p.S400S|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Silent_p.S400S|COCH_ENST00000216361.4_Silent_p.S400S|COCH_ENST00000382493.4_Silent_p.S251S			O43405	COCH_HUMAN	cochlin	400	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTGAAATCTCGGACATTGGTG	0.433000													24	24					0	0	0.006320	0	0
COL6A6	131873	broad.mit.edu	37	3	130282258	130282258	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:130282258C>T	ENST00000358511.6	+	2	442	c.411C>T	c.(409-411)gtC>gtT	p.V137V	COL6A6_ENST00000453409.2_Silent_p.V137V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	137	Nonhelical region.|VWFA 1.				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						TTCTAGTGGTCCTGGCTTCAT	0.502000													8	17					0	0	0.006214	0	0
ABCD2	225	broad.mit.edu	37	12	39997780	39997780	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:39997780A>G	ENST00000308666.3	-	5	1569	c.1434T>C	c.(1432-1434)atT>atC	p.I478I		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	478	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTTCACAAATAATTCCGTGAT	0.328000													8	37					0	0	0.006214	0	0
ZNF672	79894	broad.mit.edu	37	1	249142794	249142794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:249142794C>T	ENST00000306562.3	+	4	2067	c.1321C>T	c.(1321-1323)Ccg>Tcg	p.P441S		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTTTGAGGGGCCGGCTGAACA	0.622000													5	13					0	0	0.001168	0	0
APOB	338	broad.mit.edu	37	2	21229125	21229125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:21229125C>T	ENST00000233242.1	-	26	10742	c.10615G>A	c.(10615-10617)Gat>Aat	p.D3539N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3539					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGATATCATCAATTTTGGAA	0.433000													110	143					0	0	0.014410	0	0
IL4R	3566	broad.mit.edu	37	16	27374756	27374756	+	Missense_Mutation	SNP	C	C	T	rs141519721		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:27374756C>T	ENST00000395762.2	+	11	2342	c.2083C>T	c.(2083-2085)Ccc>Tcc	p.P695S	IL4R_ENST00000170630.2_Missense_Mutation_p.P695S|IL4R_ENST00000543915.2_Missense_Mutation_p.P695S|IL4R_ENST00000380922.3_Missense_Mutation_p.P680S	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	695					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCCCCCACTTCCCCAGGAGCA	0.622000													10	29					0	0	0.006214	0	0
DNAH3	55567	broad.mit.edu	37	16	21080784	21080784	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:21080784C>T	ENST00000261383.3	-	23	3332	c.3333G>A	c.(3331-3333)agG>agA	p.R1111R	DNAH3_ENST00000415178.1_Silent_p.R1111R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1111	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCCAAATTTCCTCCCCTCTT	0.428000													32	38					0	0	0.012213	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066979	18066979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:18066979C>T	ENST00000506618.2	-	1	507	c.427G>A	c.(427-429)Gac>Aac	p.D143N		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	143					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TACAAGTTGTCTACTGGGATA	0.448000													53	0					0	0	0.014410	0	0
DNAH12	201625	broad.mit.edu	37	3	57493467	57493467	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:57493467A>G	ENST00000351747.2	-	8	980	c.800T>C	c.(799-801)gTt>gCt	p.V267A	DNAH12_ENST00000389536.4_Missense_Mutation_p.V267A|DNAH12_ENST00000311202.6_Missense_Mutation_p.V267A	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	267	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GAGATTTATAACCTTTGGATA	0.353000													17	41					0	0	0.008871	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891650	5891650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:5891650C>T	ENST00000581347.1	-	3	1058	c.413G>A	c.(412-414)cGa>cAa	p.R138Q	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R138Q			A6NKL6	T200C_HUMAN	transmembrane protein 200C	138						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGAGGCGGCTCGTGCTGGAGG	0.652000													25	34					0	0	0.012213	0	0
MKL1	57591	broad.mit.edu	37	22	40814595	40814595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:40814595G>A	ENST00000396617.3	-	12	2437	c.1847C>T	c.(1846-1848)cCg>cTg	p.P616L	MKL1_ENST00000407029.1_Missense_Mutation_p.P616L|MKL1_ENST00000402042.1_Missense_Mutation_p.P566L|MKL1_ENST00000355630.3_Missense_Mutation_p.P616L			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	616	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CGGGGGCCCCGGGGCCACAGC	0.716000			T	RBM15	acute megakaryocytic leukemia								15	19					0	0	0.004990	0	0
FAT1	2195	broad.mit.edu	37	4	187521124	187521124	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:187521124G>A	ENST00000441802.2	-	22	12240	c.12031C>T	c.(12031-12033)Ctg>Ttg	p.L4011L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4011					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGGCCGTCAGGAAGCAGCCT	0.532000										HNSCC(5;0.00058)			60	39					0	0	0.014410	0	0
PMM1	5372	broad.mit.edu	37	22	41980374	41980374	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:41980374G>A	ENST00000216259.7	-	4	369	c.285C>T	c.(283-285)acC>acT	p.T95T	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	95					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GGTTCTGGATGGTCTGGCCAA	0.632000													11	17					0	0	0.001855	0	0
SLC13A1	6561	broad.mit.edu	37	7	122755593	122755593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:122755593C>T	ENST00000194130.2	-	15	1806	c.1767G>A	c.(1765-1767)atG>atA	p.M589I	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	589						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TCTCATTACTCATAGCAGGAG	0.398000													16	10					0	0	0.007413	0	0
SLC30A8	169026	broad.mit.edu	37	8	118147606	118147606	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:118147606G>A	ENST00000427715.2	+	0	297				SLC30A8_ENST00000521243.1_Intron|SLC30A8_ENST00000521035.1_3'UTR|SLC30A8_ENST00000456015.2_Missense_Mutation_p.A14T|SLC30A8_ENST00000519688.1_De_novo_Start_OutOfFrame	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8						insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GAATGATAAAGCTGCCAAGAT	0.418000													24	52					0	0	0.006320	0	0
NFASC	23114	broad.mit.edu	37	1	204951081	204951081	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:204951081C>T	ENST00000367172.4	+	21	2731	c.2403C>T	c.(2401-2403)gtC>gtT	p.V801V	NFASC_ENST00000367171.4_Silent_p.V786V|NFASC_ENST00000513543.1_Silent_p.V797V|NFASC_ENST00000404076.1_Silent_p.V780V|NFASC_ENST00000367169.4_Silent_p.V801V|NFASC_ENST00000338515.6_Silent_p.V801V|NFASC_ENST00000539706.1_Silent_p.V797V|NFASC_ENST00000339876.6_Silent_p.V801V|NFASC_ENST00000367170.4_Silent_p.V801V|NFASC_ENST00000401399.1_Silent_p.V801V|NFASC_ENST00000338586.6_Silent_p.V801V|NFASC_ENST00000360049.4_Silent_p.V797V|NFASC_ENST00000404907.1_Silent_p.V797V			O94856	NFASC_HUMAN	neurofascin	801	Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.V797V(1)|p.V801V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGATCCGAGTCCAGGCTGAAA	0.602000													14	4					0	0	0.002450	0	0
KCNC3	3748	broad.mit.edu	37	19	50826962	50826962	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50826962G>A	ENST00000376959.2	-	2	1411	c.1248C>T	c.(1246-1248)gtC>gtT	p.V416V	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000477616.1_Silent_p.V416V|KCNC3_ENST00000391818.2_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	416					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GGACGAAGCGGACCACCCGCA	0.657000													13	11					0	0	0.003163	0	0
DST	667	broad.mit.edu	37	6	56323978	56323978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:56323978G>A	ENST00000370754.5	-	102	23077	c.23078C>T	c.(23077-23079)tCa>tTa	p.S7693L	DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.S7404L|DST_ENST00000421834.2_Missense_Mutation_p.S5400L|DST_ENST00000244364.6_Missense_Mutation_p.S5114L|DST_ENST00000370769.4_Missense_Mutation_p.S7515L|DST_ENST00000446842.2_Missense_Mutation_p.S7189L|DST_ENST00000370788.2_Missense_Mutation_p.S5318L			Q03001	DYST_HUMAN	dystonin	7513					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCAAAGTCTGATGCATCACT	0.562000													7	14					0	0	0.003080	0	0
IVL	3713	broad.mit.edu	37	1	152882714	152882714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:152882714G>A	ENST00000368764.3	+	2	505	c.441G>A	c.(439-441)atG>atA	p.M147I	IVL_ENST00000392667.2_Start_Codon_SNP_p.M1I			P07476	INVO_HUMAN	involucrin	147					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTGGGAATGAAGAAAGAGC	0.532000													5	34					0	0	0.001984	0	0
FBN2	2201	broad.mit.edu	37	5	127674734	127674734	+	Silent	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:127674734A>T	ENST00000508053.1	-	32	4337	c.3363T>A	c.(3361-3363)atT>atA	p.I1121I	FBN2_ENST00000508989.1_Silent_p.I1088I|FBN2_ENST00000262464.4_Silent_p.I1121I|FBN2_ENST00000507835.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	1121	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTCAGGAGAAATCCTGCACT	0.453000													22	25					0	0	0.002780	0	0
SCFD2	152579	broad.mit.edu	37	4	54231585	54231585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:54231585G>A	ENST00000401642.3	-	1	657	c.524C>T	c.(523-525)tCc>tTc	p.S175F	SCFD2_ENST00000388940.4_Missense_Mutation_p.S175F	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	175					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGGGAAAAGGGATGCAAAAGC	0.557000													17	9					0	0	0.007413	0	0
SLC45A2	51151	broad.mit.edu	37	5	33984338	33984338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:33984338C>T	ENST00000382102.3	-	1	408	c.351G>A	c.(349-351)atG>atA	p.M117I	SLC45A2_ENST00000296589.4_Missense_Mutation_p.M117I|SLC45A2_ENST00000345083.5_Missense_Mutation_p.M117I|SLC45A2_ENST00000509381.1_Missense_Mutation_p.M117I|SLC45A2_ENST00000342059.3_Missense_Mutation_p.M117I	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	117					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GGTACAGAGCCATGCCCACGA	0.612000													18	20					0	0	0.007413	0	0
SLU7	10569	broad.mit.edu	37	5	159841390	159841390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:159841390G>A	ENST00000297151.4	-	3	647	c.260C>T	c.(259-261)cCa>cTa	p.P87L		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	87					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTGGTTGTGGTCTCTGGTG	0.388000													131	142					0	0	0.014410	0	0
ADAM29	11086	broad.mit.edu	37	4	175897250	175897250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:175897250G>A	ENST00000359240.3	+	5	1244	c.574G>A	c.(574-576)Ggc>Agc	p.G192S	ADAM29_ENST00000445694.1_Missense_Mutation_p.G192S|ADAM29_ENST00000514159.1_Missense_Mutation_p.G192S|ADAM29_ENST00000404450.4_Missense_Mutation_p.G192S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	192					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)		TTCTTATGTGGGCTGGTGGAT	0.358000													33	10					0	0	0.009535	0	0
TXN2	25828	broad.mit.edu	37	22	36876737	36876737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:36876737G>A	ENST00000216185.2	-	2	614	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.R50W|TXN2_ENST00000487725.1_5'UTR			Q99757	THIOM_HUMAN	thioredoxin 2	50					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						TATATTGTCCGGGCTGGGTTG	0.552000													25	30					0	0	0.008361	0	0
DNAH12	201625	broad.mit.edu	37	3	57496597	57496597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:57496597C>T	ENST00000351747.2	-	5	569	c.389G>A	c.(388-390)gGg>gAg	p.G130E	DNAH12_ENST00000389536.4_Missense_Mutation_p.G130E|DNAH12_ENST00000311202.6_Missense_Mutation_p.G130E	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	130	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCTTTCTTTCCCTTCCTTTAA	0.373000													30	21					0	0	0.013726	0	0
RGS5	8490	broad.mit.edu	37	1	163122409	163122409	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:163122409G>A	ENST00000313961.5	-	4	592	c.315C>T	c.(313-315)tcC>tcT	p.S105S	RGS5_ENST00000367903.3_Silent_p.S125S|RGS5_ENST00000527988.1_5'UTR|RGS5_ENST00000530507.1_Silent_p.S105S	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	105	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.S105S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TCTTGGCAGGGGACTTGATCT	0.448000													25	86					0	0	0.005443	0	0
NADSYN1	55191	broad.mit.edu	37	11	71166155	71166155	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:71166155G>A	ENST00000319023.2	+	2	273		c.e2-1			NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1						NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGTACTTACAGGTATTGAAAT	0.423000													21	29					0	0	0.012319	0	0
DMBT1	1755	broad.mit.edu	37	10	124345823	124345823	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:124345823C>T	ENST00000338354.3	+	16	1813	c.1707C>T	c.(1705-1707)taC>taT	p.Y569Y	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Silent_p.Y559Y|DMBT1_ENST00000368955.3_Silent_p.Y559Y|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Silent_p.Y569Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	569	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGAGTCCTACTTGTGGAGCT	0.582000													39	55					0	0	0.013114	0	0
MYH1	4619	broad.mit.edu	37	17	10401113	10401113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10401113C>T	ENST00000226207.5	-	31	4397	c.4303G>A	c.(4303-4305)Gat>Aat	p.D1435N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1435						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.D1435N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCTCAACATCAATCATGAGG	0.458000													31	25					0	0	0.003755	0	0
DPYD	1806	broad.mit.edu	37	1	97839171	97839171	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:97839171A>T	ENST00000370192.3	-	16	2104	c.2004T>A	c.(2002-2004)aaT>aaA	p.N668K		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	668	Uracil binding (Potential).				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			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)	GACATGATAAATTTAACTCCA	0.433000													8	47					0	0	0.006214	0	0
CA10	56934	broad.mit.edu	37	17	49710991	49710991	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:49710991G>A	ENST00000451037.2	-	8	1750	c.810C>T	c.(808-810)ctC>ctT	p.L270L	CA10_ENST00000285273.4_Silent_p.L270L|CA10_ENST00000442502.2_Silent_p.L270L|CA10_ENST00000340813.6_Silent_p.L276L|CA10_ENST00000570565.1_Silent_p.L195L	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	270					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GGTTCTGGCTGAGCAGGCGCA	0.507000													20	38					0	0	0.014323	0	0
SLC45A1	50651	broad.mit.edu	37	1	8384545	8384545	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:8384545G>A	ENST00000471889.1	+	2	541	c.156G>A	c.(154-156)agG>agA	p.R52R	SLC45A1_ENST00000289877.8_Silent_p.R52R|SLC45A1_ENST00000377479.2_Silent_p.R86R			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	52					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)		ACCCCAAGAGGAGGAAGTGCA	0.662000													50	23					0	0	0.014410	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527562	70527562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:70527562C>T	ENST00000381269.2	-	3	2632	c.1879G>A	c.(1879-1881)Gga>Aga	p.G627R	SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G627R|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000216568.7_Missense_Mutation_p.G4R|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G627R	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	627					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCTGATATTCCACGTTCCATC	0.328000													17	33					0	0	0.008871	0	0
ATP2A3	489	broad.mit.edu	37	17	3832734	3832734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:3832734G>A	ENST00000309890.7	-	19	2900	c.2750C>T	c.(2749-2751)tCg>tTg	p.S917L	ATP2A3_ENST00000397039.1_Missense_Mutation_p.S101L|ATP2A3_ENST00000397041.3_Missense_Mutation_p.S917L|ATP2A3_ENST00000397043.3_Missense_Mutation_p.S917L|ATP2A3_ENST00000397035.3_Missense_Mutation_p.S917L|ATP2A3_ENST00000352011.3_Missense_Mutation_p.S917L|ATP2A3_ENST00000359983.3_Missense_Mutation_p.S917L	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	917					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CTGGTTCTCCGAGACGCTGCC	0.677000													7	1					0	0	0.004482	0	0
NEURL4	84461	broad.mit.edu	37	17	7226169	7226169	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7226169G>A	ENST00000399464.2	-	16	2625	c.2610C>T	c.(2608-2610)gtC>gtT	p.V870V	NEURL4_ENST00000570460.1_Silent_p.V846V|NEURL4_ENST00000315614.7_Silent_p.V868V	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATAGAGATCGACTACCGCAT	0.592000													27	78					0	0	0.008361	0	0
GTF3C1	2975	broad.mit.edu	37	16	27504563	27504563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:27504563G>A	ENST00000356183.4	-	17	2848	c.2833C>T	c.(2833-2835)Cgc>Tgc	p.R945C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R945C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	945						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGAGAAAGCGGATCAGCGTG	0.567000													16	31					0	0	0.010504	0	0
TMC3	342125	broad.mit.edu	37	15	81636306	81636306	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:81636306G>A	ENST00000558726.1	-	14	1737	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Silent_p.F533F			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	533						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGTACCGCACGAAAAGTCCTC	0.473000													29	1					0	0	0.008361	0	0
KRT7	3855	broad.mit.edu	37	12	52627350	52627350	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:52627350G>A	ENST00000331817.5	+	1	453	c.270G>A	c.(268-270)gaG>gaA	p.E90E		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	90	Coil 1A.|Head.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		TGCGCCAGGAGGAGAGCGAGC	0.677000													22	13					0	0	0.003330	0	0
RSF1	51773	broad.mit.edu	37	11	77388020	77388020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:77388020G>A	ENST00000308488.6	-	13	3460	c.3158C>T	c.(3157-3159)tCc>tTc	p.S1053F	RSF1_ENST00000360355.2_Missense_Mutation_p.S1022F|RSF1_ENST00000480887.1_Missense_Mutation_p.S801F			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1053					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGTGATGGTGGAGATATCTTT	0.433000													32	52					0	0	0.006999	0	0
CFLAR	8837	broad.mit.edu	37	2	202000808	202000808	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:202000808A>T	ENST00000395148.2	+	4	713	c.501A>T	c.(499-501)aaA>aaT	p.K167N	CFLAR_ENST00000494258.1_Missense_Mutation_p.K71N|CFLAR_ENST00000479953.2_Missense_Mutation_p.K71N|CFLAR_ENST00000342795.5_Missense_Mutation_p.K167N|CFLAR_ENST00000443227.1_Missense_Mutation_p.K71N|CFLAR_ENST00000457277.1_Missense_Mutation_p.K167N|CFLAR_ENST00000355558.4_Missense_Mutation_p.K167N|CFLAR_ENST00000440180.1_Missense_Mutation_p.K167N|CFLAR_ENST00000309955.2_Missense_Mutation_p.K167N|CFLAR_ENST00000341582.6_Missense_Mutation_p.K167N|CFLAR_ENST00000341222.6_Missense_Mutation_p.K167N|CFLAR_ENST00000340870.5_Missense_Mutation_p.K167N|CFLAR_ENST00000423241.2_Missense_Mutation_p.K167N			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	167	DED 2.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TGAAGACAAAAATCCAGAAGT	0.418000													17	43					0	0	0.007413	0	0
TRRAP	8295	broad.mit.edu	37	7	98562331	98562331	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:98562331C>T	ENST00000359863.4	+	47	7097	c.6888C>T	c.(6886-6888)tcC>tcT	p.S2296S	TRRAP_ENST00000355540.3_Silent_p.S2278S|TRRAP_ENST00000446306.3_Silent_p.S2277S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2296	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTATGCGCTCCCTGCAGAAGA	0.547000													30	25					0	0	0.012213	0	0
NFYB	4801	broad.mit.edu	37	12	104519919	104519919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:104519919C>T	ENST00000240055.3	-	4	431	c.204G>A	c.(202-204)atG>atA	p.M68I	NFYB_ENST00000551727.1_Missense_Mutation_p.M68I	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	68	B domain.					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGGCATTTTTCATTATCCTAG	0.373000													29	42					0	0	0.013726	0	0
GMIP	51291	broad.mit.edu	37	19	19747546	19747546	+	Missense_Mutation	SNP	G	G	A	rs144451705		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:19747546G>A	ENST00000203556.4	-	13	1434	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	GMIP_ENST00000587238.1_Missense_Mutation_p.R433W|GMIP_ENST00000445806.2_Missense_Mutation_p.R430W	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	433					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCAGGGACCGAGACTCGCTG	0.637000													26	36					0	0	0.003271	0	0
TMEM150B	284417	broad.mit.edu	37	19	55832372	55832372	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55832372G>A	ENST00000326652.4	-	3	215	c.33C>T	c.(31-33)ttC>ttT	p.F11F	TMEM150B_ENST00000438693.1_Silent_p.F11F			A6NC51	T150B_HUMAN	transmembrane protein 150B	11						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						AGACAGCTAGGAAGACAGGCA	0.602000													6	11					0	0	0.003080	0	0
NYAP2	57624	broad.mit.edu	37	2	226447249	226447249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:226447249G>A	ENST00000272907.6	+	4	1529	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	372	Pro-rich.																TGTCTTACATGAAACAGCCAG	0.667000													4	2					0	0	0.009096	0	0
COX4I2	84701	broad.mit.edu	37	20	30226841	30226841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:30226841G>A	ENST00000376075.3	+	2	96	c.21G>A	c.(19-21)tgG>tgA	p.W7*	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	7					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GAGCTGCCTGGAGCTTGGTGC	0.592000													11	14					0	0	0.002450	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978995	41978995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:41978995C>T	ENST00000372584.1	-	7	6911	c.5897G>A	c.(5896-5898)aGa>aAa	p.R1966K	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1966K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1966K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1966K|HIVEP3_ENST00000460604.1_5'UTR	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1966					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCACGGTCTTCTTGGGGACAC	0.622000													54	23					0	0	0.014410	0	0
ERVFRD-1	405754	broad.mit.edu	37	6	11104972	11104972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:11104972C>T	ENST00000472091.1	-	2	947	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.R191Q	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN		191						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						CTGGCAAAACCGGCTGGATTT	0.463000													94	63					0	0	0.014410	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927121	92927121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:92927121C>T	ENST00000373079.3	-	1	1446	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	395					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCTTCAATTTCCCATCCCCAA	0.413000													6	1					0	0	0.001168	0	0
GSDMA	284110	broad.mit.edu	37	17	38132228	38132228	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:38132228T>G	ENST00000301659.4	+	11	1191	c.1073T>G	c.(1072-1074)aTc>aGc	p.I358S		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	358					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GAGAAAAAGATCCTACCCGTG	0.507000													5	3					0	0	0.001168	0	0
TUBB8	347688	broad.mit.edu	37	10	93799	93799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:93799G>A	ENST00000447903.2	-	4	632	c.317C>T	c.(316-318)aCc>aTc	p.T106I	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.T178I|TUBB8_ENST00000332708.5_3'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	178					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTCCACCACGGTGTCCGACAC	0.522000													52	55					0	0	0.014410	0	0
FLT3	2322	broad.mit.edu	37	13	28597538	28597538	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:28597538A>G	ENST00000380982.4	-	19	2448	c.2367T>C	c.(2365-2367)ctT>ctC	p.L789L	FLT3_ENST00000241453.7_Silent_p.L789L|FLT3_ENST00000537084.1_Silent_p.L789L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	789	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATGCAAAGCAAAGAAGATCTT	0.333000			"""Mis, O"""		"""AML, ALL"""								26	28					0	0	0.006320	0	0
GALNT13	114805	broad.mit.edu	37	2	155099233	155099233	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:155099233G>A	ENST00000392825.3	+	6	1068	c.501G>A	c.(499-501)gaG>gaA	p.E167E	GALNT13_ENST00000409237.1_Silent_p.E167E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	167	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGACATTAGAGAATTACGTGA	0.338000													16	7					0	0	0.006122	0	0
SPG11	80208	broad.mit.edu	37	15	44903077	44903077	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:44903077G>A	ENST00000261866.7	-	18	3268	c.3252C>T	c.(3250-3252)gcC>gcT	p.A1084A	SPG11_ENST00000558319.1_Silent_p.A1084A|SPG11_ENST00000535302.2_Silent_p.A1084A|SPG11_ENST00000427534.2_Silent_p.A1084A	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1084					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TAGTAGCAAGGGCCAGGAGGG	0.423000													44	2					0	0	0.013114	0	0
MTOR	2475	broad.mit.edu	37	1	11199412	11199412	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:11199412G>A	ENST00000361445.4	-	36	5155	c.5079C>T	c.(5077-5079)caC>caT	p.H1693H	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1693	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCACCTGAGGGTGAACTGTTG	0.478000													121	44					0	0	0.014410	0	0
RIMS2	9699	broad.mit.edu	37	8	104928661	104928661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:104928661G>A	ENST00000507740.1	+	6	1592	c.1356G>A	c.(1354-1356)tgG>tgA	p.W452*	RIMS2_ENST00000436393.2_Nonsense_Mutation_p.W422*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.W644*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.W499*	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	722					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TATTAGAATGGAATGGAAGAC	0.353000										HNSCC(12;0.0054)			12	32					0	0	0.013537	0	0
EDAR	10913	broad.mit.edu	37	2	109527359	109527359	+	Silent	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:109527359C>G	ENST00000409271.1	-	8	1142	c.699G>C	c.(697-699)ccG>ccC	p.P233P	EDAR_ENST00000258443.2_Intron|EDAR_ENST00000376651.1_Silent_p.P233P			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGGGAGTTGACGGAGAGTCCA	0.637000													8	16					0	0	0.003080	0	0
KRT9	3857	broad.mit.edu	37	17	39728022	39728022	+	Missense_Mutation	SNP	C	C	T	rs143561490		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:39728022C>T	ENST00000246662.4	-	1	288	c.223G>A	c.(223-225)Gga>Aga	p.G75R	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	75	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCAGATCCTCCGCCGTAGCTG	0.582000													9	2					0	0	0.008291	0	0
MTMR3	8897	broad.mit.edu	37	22	30416035	30416035	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:30416035T>C	ENST00000333027.3	+	17	2715	c.2387T>C	c.(2386-2388)tTt>tCt	p.F796S	MTMR3_ENST00000406629.1_Missense_Mutation_p.F796S|MTMR3_ENST00000401950.2_Missense_Mutation_p.F796S|MTMR3_ENST00000351488.3_Missense_Mutation_p.F796S|MTMR3_ENST00000323630.5_Missense_Mutation_p.F660S|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	796					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTGGAGCAGTTTCGAATAGAA	0.527000													35	42					0	0	0.012213	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138418995	138418995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:138418995C>T	ENST00000310018.2	-	16	1859	c.1577G>A	c.(1576-1578)tGg>tAg	p.W526*	ATP6V0A4_ENST00000393054.1_Nonsense_Mutation_p.W526*|ATP6V0A4_ENST00000353492.4_Nonsense_Mutation_p.W526*	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	526					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGCCAAGTTCCAAATCTGGAT	0.443000													15	20					0	0	0.004990	0	0
EFCAB6	64800	broad.mit.edu	37	22	43976365	43976365	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:43976365G>A	ENST00000262726.7	-	25	3460	c.3207C>T	c.(3205-3207)tcC>tcT	p.S1069S	EFCAB6_ENST00000396231.2_Silent_p.S917S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1069	EF-hand 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCAGCTGGGAGGACTCAACTA	0.493000													46	58					0	0	0.014410	0	0
FAM193B	54540	broad.mit.edu	37	5	176951758	176951758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:176951758G>A	ENST00000329540.5	-	9	3431	c.602C>T	c.(601-603)cCc>cTc	p.P201L	FAM193B_ENST00000514747.1_Missense_Mutation_p.P575L|FAM193B_ENST00000443375.2_Missense_Mutation_p.P542L			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	251										kidney(1)|large_intestine(3)	4						GACGATACCGGGAGGGGGCCC	0.647000													9	5					0	0	0.004482	0	0
SSFA2	6744	broad.mit.edu	37	2	182780784	182780784	+	Missense_Mutation	SNP	C	C	T	rs147488067	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:182780784C>T	ENST00000431877.2	+	11	2596	c.2417C>T	c.(2416-2418)tCt>tTt	p.S806F	SSFA2_ENST00000320370.7_Missense_Mutation_p.S806F|SSFA2_ENST00000428267.2_Missense_Mutation_p.S653F|SSFA2_ENST00000409136.1_Missense_Mutation_p.S315F|SSFA2_ENST00000409001.1_Missense_Mutation_p.S806F	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	806						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCTCCATCATCTGTGAAGAAA	0.498000													11	26					0	0	0.001855	0	0
ANXA10	11199	broad.mit.edu	37	4	169049259	169049259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:169049259C>T	ENST00000359299.3	+	2	229	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	15							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CTTCCCAGCTCCCAATTTCAA	0.403000													32	16					0	0	0.005524	0	0
PAK7	57144	broad.mit.edu	37	20	9546766	9546766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:9546766G>A	ENST00000378429.3	-	6	1802	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	PAK7_ENST00000378423.1_Missense_Mutation_p.S419F|PAK7_ENST00000353224.5_Missense_Mutation_p.S419F	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	419	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGGTCGGAGGAGGAGCCCCA	0.642000													21	26					0	0	0.010504	0	0
CCDC38	120935	broad.mit.edu	37	12	96288856	96288856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:96288856G>A	ENST00000344280.3	-	8	1240	c.683C>T	c.(682-684)tCt>tTt	p.S228F	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	228										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGTTTTGGAGACATTTGCAG	0.333000													27	45					0	0	0.004656	0	0
TTC18	118491	broad.mit.edu	37	10	75034301	75034301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:75034301G>A	ENST00000401621.2	-	24	3055	c.2935C>T	c.(2935-2937)Cat>Tat	p.H979Y	TTC18_ENST00000493787.1_5'UTR|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000355577.3_Missense_Mutation_p.H448Y|TTC18_ENST00000310715.3_Missense_Mutation_p.H979Y|TTC18_ENST00000340329.3_Missense_Mutation_p.H219Y|TTC18_ENST00000394865.1_Missense_Mutation_p.H979Y			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	979							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GCCTCAGAATGATTTCCACTC	0.443000													45	55					0	0	0.013114	0	0
ZP2	7783	broad.mit.edu	37	16	21210173	21210173	+	Silent	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:21210173G>T	ENST00000574002.1	-	18	2420	c.1938C>A	c.(1936-1938)gcC>gcA	p.A646A	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.A646A|ZP2_ENST00000574091.1_Silent_p.A637A			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	646					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CTGCTTCAGTGGCCCCTGTGG	0.493000													4	9					0.00116845	0.00154258	0.001168	1	0
POLD1	5424	broad.mit.edu	37	19	50902210	50902210	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50902210C>T	ENST00000440232.2	+	2	155	c.102C>T	c.(100-102)ttC>ttT	p.F34F	POLD1_ENST00000599857.1_Silent_p.F34F|POLD1_ENST00000595904.1_Silent_p.F34F	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	34					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|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|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|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)		CATCCCAATTCGAGGAGGACC	0.667000								DNA polymerases (catalytic subunits)					6	7					0	0	0.003080	0	0
HEPN1	641654	broad.mit.edu	37	11	124789675	124789675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124789675C>T	ENST00000408930.5	+	1	530	c.29C>T	c.(28-30)cCa>cTa	p.P10L	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	10						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		GGAATTGCTCCATGGGTTGAT	0.537000													11	32					0	0	0.013537	0	0
ATP1B2	482	broad.mit.edu	37	17	7558868	7558868	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7558868C>T	ENST00000250111.4	+	6	1040	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	211					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CTGAGAATCTCGGCAACTTCG	0.562000													34	17					0	0	0.006999	0	0
SCAF1	58506	broad.mit.edu	37	19	50154643	50154643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50154643C>T	ENST00000360565.3	+	7	1121	c.997C>T	c.(997-999)Cct>Tct	p.P333S		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	333					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GACTCCCGCCCCTGGAACGCC	0.701000													14	13					0	0	0.004007	0	0
MAMDC2	256691	broad.mit.edu	37	9	72785526	72785526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:72785526G>A	ENST00000377182.4	+	11	2247	c.1630G>A	c.(1630-1632)Gga>Aga	p.G544R	MAMDC2-AS1_ENST00000448377.3_RNA|MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	544	MAM 4.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGGACCAAAGGGAGATCACAC	0.458000													6	12					0	0	0.001168	0	0
RP1	6101	broad.mit.edu	37	8	55539327	55539327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:55539327G>A	ENST00000220676.1	+	4	3033	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	962					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAAATTCTGGAAAAATAAGT	0.313000													18	16					0	0	0.006122	0	0
PHLDB2	90102	broad.mit.edu	37	3	111658322	111658322	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:111658322G>A	ENST00000431670.2	+	7	2542	c.2130_splice	c.e7-1	p.D711_splice	PHLDB2_ENST00000412622.1_Splice_Site_p.D668_splice|PHLDB2_ENST00000481953.1_Splice_Site_p.D668_splice|PHLDB2_ENST00000495180.1_Splice_Site_p.D297_splice|PHLDB2_ENST00000393923.3_Splice_Site_p.D695_splice|PHLDB2_ENST00000393925.3_Splice_Site_p.D711_splice	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	711						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TTCTCCAAAGGATGCTGACCT	0.393000													12	32					0	0	0.004007	0	0
C2orf71	388939	broad.mit.edu	37	2	29294603	29294603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:29294603G>A	ENST00000331664.5	-	1	2524	c.2525C>T	c.(2524-2526)tCa>tTa	p.S842L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	842					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGAAGCGAATGATTTGTCCAT	0.582000													61	82					0	0	0.014410	0	0
DLC1	10395	broad.mit.edu	37	8	12947854	12947854	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:12947854G>C	ENST00000276297.4	-	15	4390	c.3981C>G	c.(3979-3981)gaC>gaG	p.D1327E	DLC1_ENST00000512044.2_Missense_Mutation_p.D924E|DLC1_ENST00000358919.2_Missense_Mutation_p.D890E|DLC1_ENST00000520226.1_Missense_Mutation_p.D816E|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1327	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CATCCACACAGTCCTGGAGGA	0.502000													17	4					0	0	0.006122	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146617	156146617	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:156146617C>T	ENST00000368285.3	+	15	2382	c.2115C>T	c.(2113-2115)tcC>tcT	p.S705S	SEMA4A_ENST00000368284.1_Silent_p.S573S|SEMA4A_ENST00000368282.1_Silent_p.S705S|SEMA4A_ENST00000355014.2_Silent_p.S705S|SEMA4A_ENST00000368286.2_Silent_p.S573S	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	705					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCGTGGCCTCCCCATTGAGAG	0.622000													14	34					0	0	0.002450	0	0
UGT1A4	54657	broad.mit.edu	37	2	234627964	234627964	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:234627964G>A	ENST00000373409.3	+	1	541	c.498G>A	c.(496-498)tcG>tcA	p.S166S	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		AGTACCTGTCGATTCCTGCTG	0.458000													61	40					0	0	0.014410	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68048918	68048918	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:68048918G>A	ENST00000329153.5	+	24	3549	c.3417G>A	c.(3415-3417)ctG>ctA	p.L1139L	PLEKHH1_ENST00000417684.2_Silent_p.L4L	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1139	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGGCTGCCCTGATGGCCCAGG	0.532000													13	14					0	0	0.002450	0	0
ZNF831	128611	broad.mit.edu	37	20	57781969	57781969	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:57781969G>A	ENST00000371030.2	+	3	3885	c.3885G>A	c.(3883-3885)ggG>ggA	p.G1295G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1295						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)					GGTACAAAGGGAATTTCTTGC	0.537000													76	102					0	0	0.014410	0	0
NETO1	81832	broad.mit.edu	37	18	70417358	70417358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:70417358C>T	ENST00000327305.6	-	9	2137	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	NETO1_ENST00000583169.1_Missense_Mutation_p.E494K|NETO1_ENST00000299430.2_Missense_Mutation_p.E493K	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	494					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)		TCTTCGATTTCATCTATGTCA	0.473000													7	13					0	0	0.003080	0	0
C6orf58	352999	broad.mit.edu	37	6	127912723	127912723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:127912723G>A	ENST00000329722.7	+	6	961	c.949G>A	c.(949-951)Gat>Aat	p.D317N		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	317						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TGTATATAGAGATCATTCGGA	0.274000													12	23					0	0	0.001855	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162239	141162239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:141162239G>A	ENST00000514251.1	+	4	1288	c.1009G>A	c.(1009-1011)Gtt>Att	p.V337I	ZBTB38_ENST00000321464.5_Missense_Mutation_p.V338I|ZBTB38_ENST00000441582.2_Missense_Mutation_p.V337I			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	337					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGCCGCAGAGGTTCCACCTCT	0.507000													35	29					0	0	0.012213	0	0
POTEA	340441	broad.mit.edu	37	8	43171082	43171082	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:43171082G>A	ENST00000522175.2	+	0	817							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGCTTAAAGGAAGTGAAAAT	0.303000													9	2					0	0	0.006214	0	0
CHGA	1113	broad.mit.edu	37	14	93399099	93399099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:93399099C>T	ENST00000216492.5	+	7	1473	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	CHGA_ENST00000334654.4_Missense_Mutation_p.S247F	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	398					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGGCCATCCTCCCGGGAGGAC	0.682000													11	17					0	0	0.013537	0	0
OR51B4	79339	broad.mit.edu	37	11	5322328	5322328	+	Silent	SNP	G	G	A	rs142375265		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:5322328G>A	ENST00000380224.1	-	1	898	c.849C>T	c.(847-849)ttC>ttT	p.F283F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F283L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		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)		TAGGATTCACGAATGGAGGAA	0.428000													14	17					0	0	0.001855	0	0
NEK9	91754	broad.mit.edu	37	14	75551277	75551277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:75551277G>A	ENST00000238616.5	-	22	3088	c.2930C>T	c.(2929-2931)cCc>cTc	p.P977L	NEK9_ENST00000555763.1_5'UTR	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	977					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CTAGAGGCTGGGTCTACAGGA	0.517000													66	94					0	0	0.014410	0	0
NLRP10	338322	broad.mit.edu	37	11	7981922	7981922	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:7981922G>A	ENST00000328600.2	-	2	1398	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	413	NACHT.						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)		AGGGAGCACAGACTCCTCAGG	0.542000													14	26					0	0	0.001855	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485323	97485323	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:97485323G>A	ENST00000376705.2	+	2	1311	c.1287G>A	c.(1285-1287)agG>agA	p.R429R		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	429						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGCACCAGAGGGACCGCCAGA	0.587000													9	31					0	0	0.006214	0	0
ZNF646	9726	broad.mit.edu	37	16	31092887	31092887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:31092887G>A	ENST00000394979.2	+	1	5665	c.5242G>A	c.(5242-5244)Gag>Aag	p.E1748K	ZNF646_ENST00000300850.5_Missense_Mutation_p.E1748K			O15015	ZN646_HUMAN	zinc finger protein 646	1748					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGCCCGGCTGGAGGGCCACGG	0.657000													37	37					0	0	0.004289	0	0
ZNF234	10780	broad.mit.edu	37	19	44660892	44660892	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:44660892C>T	ENST00000426739.2	+	6	981	c.723C>T	c.(721-723)ttC>ttT	p.F241F	ZNF234_ENST00000592437.1_Silent_p.F241F	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GGAAAGGCTTCAGTCGTAGAT	0.423000													37	54					0	0	0.007835	0	0
MYO3A	53904	broad.mit.edu	37	10	26462877	26462877	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:26462877G>A	ENST00000265944.5	+	30	3850	c.3684G>A	c.(3682-3684)agG>agA	p.R1228R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1228					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCAATCTAAGGAAAGTGGAGA	0.433000													35	23					0	0	0.003755	0	0
LAMA5	3911	broad.mit.edu	37	20	60901952	60901952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:60901952G>A	ENST00000252999.3	-	39	5249	c.5183C>T	c.(5182-5184)cCc>cTc	p.P1728L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1728	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTCTCCATGGGGACAAAGAC	0.632000													27	80					0	0	0.010818	0	0
BFAR	51283	broad.mit.edu	37	16	14755850	14755850	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:14755850C>T	ENST00000261658.2	+	6	1162	c.885C>T	c.(883-885)ttC>ttT	p.F295F	BFAR_ENST00000426842.2_Silent_p.F167F|BFAR_ENST00000563971.1_Silent_p.F170F	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	295					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CCGACACCTTCCTACCTTTCA	0.552000													47	64					0	0	0.014410	0	0
SYNE1	23345	broad.mit.edu	37	6	152841606	152841606	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:152841606G>A	ENST00000367255.5	-	6	898	c.297C>T	c.(295-297)ctC>ctT	p.L99L	SYNE1_ENST00000367253.4_Silent_p.L99L|SYNE1_ENST00000423061.1_Silent_p.L99L|SYNE1_ENST00000448038.1_Silent_p.L99L|SYNE1_ENST00000466159.2_Silent_p.L99L|SYNE1_ENST00000265368.4_Silent_p.L99L|SYNE1_ENST00000367248.3_Silent_p.L99L|SYNE1_ENST00000341594.5_Silent_p.L99L|SYNE1_ENST00000413186.2_Silent_p.L99L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	99	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.L99L(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTCCTTCGAGGAACTTGA	0.443000										HNSCC(10;0.0054)			28	45					0	0	0.003271	0	0
CENPF	1063	broad.mit.edu	37	1	214837042	214837042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:214837042C>T	ENST00000366955.3	+	20	9418	c.9250C>T	c.(9250-9252)Ccc>Tcc	p.P3084S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3180	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GACTGACAGCCCCAGAGAGGG	0.582000													22	6					0	0	0.010504	0	0
PHF2	5253	broad.mit.edu	37	9	96437290	96437290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:96437290C>T	ENST00000359246.4	+	19	3075	c.2708C>T	c.(2707-2709)cCc>cTc	p.P903L	PHF2_ENST00000375376.4_Missense_Mutation_p.P134L	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	903					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GACGACGCTCCCTACAGCCCA	0.567000													12	17					0	0	0.003163	0	0
KCNT2	343450	broad.mit.edu	37	1	196227400	196227400	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:196227400C>T	ENST00000367433.5	-	25	3164	c.3063G>A	c.(3061-3063)agG>agA	p.R1021R	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Silent_p.R1045R|KCNT2_ENST00000367431.4_Silent_p.R979R|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1045						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTCTGACCTCCTGTAGAGGT	0.428000													25	5					0	0	0.004656	0	0
UBAP2	55833	broad.mit.edu	37	9	33998810	33998810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:33998810G>A	ENST00000379238.1	-	3	269	c.152C>T	c.(151-153)tCa>tTa	p.S51L	UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000539807.1_Missense_Mutation_p.S13L|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000360802.1_Missense_Mutation_p.S51L|UBAP2_ENST00000449054.1_Missense_Mutation_p.S51L|UBAP2_ENST00000418786.2_Missense_Mutation_p.S51L			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	51	UBA.									endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTCAAAATCTGAATCATTCTT	0.328000													13	33					0	0	0.006122	0	0
CDH8	1006	broad.mit.edu	37	16	61689619	61689619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:61689619G>A	ENST00000577390.1	-	11	2615	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	CDH8_ENST00000299345.6_Missense_Mutation_p.S554F|CDH8_ENST00000577730.1_Missense_Mutation_p.S554F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	554	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AATACTGAGGGAATTATCTGA	0.343000													4	7					0	0	0.009096	0	0
SCARA5	286133	broad.mit.edu	37	8	27779514	27779514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:27779514C>T	ENST00000354914.3	-	4	975	c.490G>A	c.(490-492)Gag>Aag	p.E164K	SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000524352.1_Missense_Mutation_p.E164K|SCARA5_ENST00000301906.4_Missense_Mutation_p.E121K|SCARA5_ENST00000518030.1_Missense_Mutation_p.E121K	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	164					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ACCGCCTGCTCGGTCTGCACC	0.716000													3	0					0	0	0.009096	0	0
NCOA1	8648	broad.mit.edu	37	2	24930584	24930584	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:24930584C>T	ENST00000405141.1	+	14	2956	c.2245C>T	c.(2245-2247)Cta>Tta	p.L749L	NCOA1_ENST00000288599.5_Silent_p.L749L|NCOA1_ENST00000406961.1_Silent_p.L749L|NCOA1_ENST00000407230.1_Silent_p.L598L|NCOA1_ENST00000395856.3_Silent_p.L749L|NCOA1_ENST00000348332.3_Silent_p.L749L|NCOA1_ENST00000538539.1_Silent_p.L749L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	749									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCAGCTCCTACGCTATCT	0.378000			T	PAX3	alveolar rhadomyosarcoma								14	18					0	0	0.002450	0	0
SLC2A7	155184	broad.mit.edu	37	1	9086357	9086357	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:9086357C>T	ENST00000400906.1	-	1	47	c.48G>A	c.(46-48)gaG>gaA	p.E16E		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	16						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CACTTACCCCCTCCCTGGATG	0.572000													13	3					0	0	0.006122	0	0
CSMD3	114788	broad.mit.edu	37	8	113266484	113266484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:113266484G>A	ENST00000297405.5	-	63	10352	c.10108C>T	c.(10108-10110)Caa>Taa	p.Q3370*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q3300*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q3330*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q3201*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3370	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTACCCACTTGAAATCCGAAT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	48					0	0	0.003954	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47534382	47534382	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:47534382T>A	ENST00000334194.3	+	2	269	c.266T>A	c.(265-267)aTg>aAg	p.M89K		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	89						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCCTTTACGATGTTCTTCAGT	0.443000													75	30					0	0	0.014410	0	0
GPR63	81491	broad.mit.edu	37	6	97246859	97246859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:97246859G>A	ENST00000229955.3	-	2	1094	c.749C>T	c.(748-750)tCt>tTt	p.S250F	GPR63_ENST00000417980.1_Missense_Mutation_p.S250F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	250						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TATGAAGAAAGAAATGAGAGA	0.468000													27	23					0	0	0.007291	0	0
SUN1	23353	broad.mit.edu	37	7	892478	892478	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:892478C>T	ENST00000456758.2	+	15	1509	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	SUN1_ENST00000401592.1_Silent_p.F314F|SUN1_ENST00000405266.1_Silent_p.F351F|SUN1_ENST00000413514.2_Silent_p.F123F|SUN1_ENST00000452783.2_Silent_p.F211F|SUN1_ENST00000425407.2_Silent_p.F231F|SUN1_ENST00000389574.3_Silent_p.F231F			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	341					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGGCAATTTCTTTTCGTTCT	0.527000													74	8					0	0	0.014410	0	0
ABCC1	4363	broad.mit.edu	37	16	16177348	16177348	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:16177348C>T	ENST00000399408.2	+	17	2416	c.2241C>T	c.(2239-2241)ctC>ctT	p.L747L	ABCC1_ENST00000346370.5_Silent_p.L747L|ABCC1_ENST00000399410.3_Silent_p.L747L|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000351154.5_Intron|ABCC1_ENST00000345148.5_Silent_p.L747L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	747	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTGCCCTCCTCCCAGACCTGG	0.532000													30	33					0	0	0.004289	0	0
NLRP13	126204	broad.mit.edu	37	19	56422054	56422054	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56422054G>A	ENST00000588751.1	-	6	2181	c.2157C>T	c.(2155-2157)tgC>tgT	p.C719C	NLRP13_ENST00000342929.3_Silent_p.C719C			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	719							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCAACGTAGAGCAAATGCTGT	0.453000													64	65					0	0	0.014410	0	0
TLN2	83660	broad.mit.edu	37	15	63073355	63073355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:63073355C>T	ENST00000561311.1	+	43	5761	c.5531C>T	c.(5530-5532)cCt>cTt	p.P1844L	TLN2_ENST00000306829.6_Missense_Mutation_p.P1844L|TLN2_ENST00000472902.1_Missense_Mutation_p.P237L			Q9Y4G6	TLN2_HUMAN	talin 2	1844					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GAAGGCACTCCTCCAGAACCA	0.443000													23	33					0	0	0.009535	0	0
CMTM1	113540	broad.mit.edu	37	16	66600862	66600862	+	Splice_Site	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:66600862T>A	ENST00000533953.1	+	1	529	c.447_splice	c.e1+1	p.L149_splice	CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000379500.2_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000328020.6_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000535705.1_Intron			Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	80					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		AGCGGAGAGCTGGTGAGACCT	0.577000													9	0					0	0	0.008291	0	0
RGS8	85397	broad.mit.edu	37	1	182615997	182615997	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:182615997G>A	ENST00000483095.2	-	7	673	c.416C>T	c.(415-417)tCc>tTc	p.S139F	RGS8_ENST00000367556.1_Missense_Mutation_p.S139F|RGS8_ENST00000258302.4_Missense_Mutation_p.S157F|RGS8_ENST00000367557.4_Missense_Mutation_p.S139F			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	139	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						GCAAGTCAGGGATGGCTCCTG	0.507000													89	42					0	0	0.014410	0	0
FCGBP	8857	broad.mit.edu	37	19	40354352	40354352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:40354352C>T	ENST00000221347.6	-	35	16124	c.16117G>A	c.(16117-16119)Gga>Aga	p.G5373R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5373	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCAAAGTTTCCACAGGCCCCA	0.572000													9	18					0	0	0.004482	0	0
DSE	29940	broad.mit.edu	37	6	116756948	116756948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:116756948G>A	ENST00000331677.3	+	7	1761	c.1317G>A	c.(1315-1317)tgG>tgA	p.W439*	DSE_ENST00000359564.2_Nonsense_Mutation_p.W439*|DSE_ENST00000452085.3_Nonsense_Mutation_p.W439*|DSE_ENST00000537543.1_Nonsense_Mutation_p.W458*			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	439					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ACAAAGATTGGATCAAAGGAT	0.398000													9	8					0	0	0.006214	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390455	38390455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:38390455C>T	ENST00000329553.2	+	4	731	c.521C>T	c.(520-522)cCg>cTg	p.P174L	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		GGGGAGGGTCCGCTCCCTCAA	0.627000													14	42					0	0	0.004990	0	0
RNMT	8731	broad.mit.edu	37	18	13742516	13742516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:13742516C>T	ENST00000383314.2	+	8	1244	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	RNMT_ENST00000535051.1_Missense_Mutation_p.S93L|RNMT_ENST00000262173.3_Missense_Mutation_p.S335L|RNMT_ENST00000589866.1_Missense_Mutation_p.S335L|RNMT_ENST00000592764.1_Missense_Mutation_p.S335L|RNMT_ENST00000543302.2_Missense_Mutation_p.S335L			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	335					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GAAACAGAATCATTTGGAAAT	0.328000													15	40					0	0	0.007413	0	0
GRIA4	2893	broad.mit.edu	37	11	105775945	105775945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:105775945G>A	ENST00000393127.2	+	9	1522	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	GRIA4_ENST00000428631.2_Missense_Mutation_p.G359E|GRIA4_ENST00000393125.2_Missense_Mutation_p.G359E|GRIA4_ENST00000530497.1_Missense_Mutation_p.G359E|GRIA4_ENST00000282499.5_Missense_Mutation_p.G359E|GRIA4_ENST00000525187.1_Missense_Mutation_p.G359E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	359					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGGCTGACAGGGAATGTTCAG	0.408000													30	43					0	0	0.010818	0	0
IDS	3423	broad.mit.edu	37	X	148568501	148568501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:148568501G>A	ENST00000340855.6	-	8	1344	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	IDS_ENST00000541269.1_Missense_Mutation_p.P168S|IDS_ENST00000537071.1_Intron|AF011889.5_ENST00000422081.1_RNA	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	379						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCGAGGTAAGGGAAAAGCTTC	0.443000													23	0					0	0	0.006320	0	0
OSCP1	127700	broad.mit.edu	37	1	36897417	36897417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:36897417C>T	ENST00000356637.5	-	5	595	c.532G>A	c.(532-534)Gac>Aac	p.D178N	OSCP1_ENST00000235532.5_Missense_Mutation_p.D168N|OSCP1_ENST00000433045.2_Missense_Mutation_p.D123N|OSCP1_ENST00000315643.9_Missense_Mutation_p.D178N|OSCP1_ENST00000354267.3_Missense_Mutation_p.D168N			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	178					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						ATGTGCAGGTCTTGGAAGAAG	0.532000													12	30					0	0	0.001855	0	0
TRPC3	7222	broad.mit.edu	37	4	122854176	122854176	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:122854176G>A	ENST00000264811.5	-	1	436	c.18C>T	c.(16-18)tcC>tcT	p.S6S	TRPC3_ENST00000513531.1_Silent_p.S6S|TRPC3_ENST00000379645.3_Silent_p.S79S	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	0					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCGTCTCAGGGATGGGCTTC	0.572000													19	37					0	0	0.010504	0	0
RP1	6101	broad.mit.edu	37	8	55540842	55540842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:55540842C>T	ENST00000220676.1	+	4	4548	c.4400C>T	c.(4399-4401)tCt>tTt	p.S1467F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1467					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAATTGGAATCTTTTGAAGAA	0.378000													18	2					0	0	0.007413	0	0
IRAK2	3656	broad.mit.edu	37	3	10280672	10280672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:10280672G>A	ENST00000256458.4	+	12	1804	c.1714G>A	c.(1714-1716)Gag>Aag	p.E572K		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	572					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CGTGGGAAGGGAGGCTGACTC	0.617000													11	24					0	0	0.010729	0	0
EREG	2069	broad.mit.edu	37	4	75250454	75250454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:75250454C>T	ENST00000244869.2	+	5	605	c.439C>T	c.(439-441)Cga>Tga	p.R147*	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	147	Arg/Lys-rich (basic).		R -> Q (in dbSNP:rs35275884).		angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	p.R147R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			GTACAGAAATCGAAAAAGTAA	0.418000													22	9					0	0	0.002780	0	0
KRT26	353288	broad.mit.edu	37	17	38926344	38926344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:38926344C>T	ENST00000335552.4	-	4	760	c.712G>A	c.(712-714)Ggg>Agg	p.G238R		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	238	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTCACGTTCCCCCCAGCTGTA	0.483000													32	37					0	0	0.004878	0	0
PSG4	5672	broad.mit.edu	37	19	43699284	43699284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:43699284G>A	ENST00000405312.3	-	4	1088	c.851C>T	c.(850-852)cCc>cTc	p.P284L	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.P191L	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	284	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTTTACCCTGGGACTGACAGG	0.453000													128	120					0	0	0.014410	0	0
NCOA6	23054	broad.mit.edu	37	20	33345302	33345302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:33345302G>A	ENST00000374796.2	-	8	3819	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P417S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	417	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGCTGCAAGGGAGTTGGGACC	0.577000													14	12					0	0	0.001855	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359495	70359495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:70359495C>T	ENST00000305107.6	-	2	832	c.786G>A	c.(784-786)tgG>tgA	p.W262*	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.W262*|UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.W126*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	262					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATTGAAAATCCCAGTAGTTTC	0.423000													16	10					0	0	0.004007	0	0
ZNF648	127665	broad.mit.edu	37	1	182027129	182027129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:182027129G>A	ENST00000339948.3	-	2	224	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCTGTCCTGGGAGTCCACTTG	0.512000													14	45					0	0	0.004007	0	0
PLAU	5328	broad.mit.edu	37	10	75673108	75673108	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:75673108C>T	ENST00000446342.1	+	5	860	c.378C>T	c.(376-378)gtC>gtT	p.V126V	C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Silent_p.V107V|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Silent_p.V143V	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	143	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AGCTGCTTGTCCAAGAGTGCA	0.542000													22	28					0	0	0.003330	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777963	110777963	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:110777963T>A	ENST00000368919.3	-	2	377	c.311A>T	c.(310-312)aAt>aTt	p.N104I	SLC22A16_ENST00000439654.1_Missense_Mutation_p.N104I|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000330550.4_Missense_Mutation_p.N70I|SLC22A16_ENST00000456137.2_Missense_Mutation_p.N104I	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	104					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CTCCCTCTTATTCCTGCTACA	0.473000													75	80					0	0	0.014410	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032429	21032429	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:21032429A>T	ENST00000381545.3	+	11	1414	c.1195A>T	c.(1195-1197)Aaa>Taa	p.K399*	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Nonsense_Mutation_p.K399*|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.K399*|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.K399*	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	399					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TATCATTAAAAAATTCAAATT	0.294000													24	12					0	0	0.003954	0	0
CD163	9332	broad.mit.edu	37	12	7635318	7635318	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:7635318G>A	ENST00000359156.4	-	14	3370	c.3168C>T	c.(3166-3168)atC>atT	p.I1056I	CD163_ENST00000432237.2_Silent_p.I1056I|CD163_ENST00000396620.3_Silent_p.I1089I|CD163_ENST00000541972.1_Silent_p.I1044I	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1056					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAACCCCAAGGATCCCGACTG	0.423000													38	26					0	0	0.004878	0	0
SI	6476	broad.mit.edu	37	3	164739019	164739019	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:164739019G>A	ENST00000264382.3	-	27	3314	c.3252C>T	c.(3250-3252)gtC>gtT	p.V1084V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1084	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.V1084V(1)		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)	TTACTTACATGACTCTTCCAC	0.353000										HNSCC(35;0.089)			11	5					0	0	0.013537	0	0
CAPN1	823	broad.mit.edu	37	11	64956141	64956141	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:64956141C>T	ENST00000527323.1	+	9	1329	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	CAPN1_ENST00000533820.1_Silent_p.I363I|CAPN1_ENST00000524773.1_Silent_p.I363I|CAPN1_ENST00000279247.6_Silent_p.I363I|CAPN1_ENST00000533129.1_Silent_p.I363I			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	363	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GCCGGACCATCCGCAAATGGA	0.647000													8	10					0	0	0.003080	0	0
DDX10	1662	broad.mit.edu	37	11	108544193	108544193	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:108544193G>A	ENST00000526794.1	+	2	218		c.e2-1		DDX10_ENST00000322536.3_Splice_Site			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10								ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTTTTTTCCAGATAAATGTAA	0.353000			T	NUP98	AML*								10	13					0	0	0.010729	0	0
KIF5B	3799	broad.mit.edu	37	10	32309990	32309990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:32309990C>T	ENST00000302418.4	-	19	2621	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	722					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTTCTACTTCATCTCTCAAA	0.363000			T	"""RET, ALK"""	NSCLC								38	54					0	0	0.006999	0	0
GRIP1	23426	broad.mit.edu	37	12	66923667	66923667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:66923667C>T	ENST00000359742.4	-	5	686	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	GRIP1_ENST00000398016.3_Missense_Mutation_p.R149Q|GRIP1_ENST00000286445.7_Missense_Mutation_p.R149Q			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	149					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTCCACTGTTCGGAAAATAAC	0.328000													22	17					0	0	0.003330	0	0
THSD7B	80731	broad.mit.edu	37	2	137813998	137813998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:137813998G>A	ENST00000409968.1	+	3	326	c.148G>A	c.(148-150)Gga>Aga	p.G50R	THSD7B_ENST00000413152.2_Missense_Mutation_p.G19R|THSD7B_ENST00000272643.3_Missense_Mutation_p.G50R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGTCCGTGGGGAAGGTGTAC	0.473000													19	13					0	0	0.014323	0	0
DCC	1630	broad.mit.edu	37	18	50918176	50918176	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:50918176C>T	ENST00000442544.2	+	17	3223	c.2607C>T	c.(2605-2607)gtC>gtT	p.V869V	DCC_ENST00000412726.1_Silent_p.V697V|DCC_ENST00000581580.1_Silent_p.V504V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	869	Fibronectin type-III 5.				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)		ACAACTCTGTCCCTAAGAACC	0.522000													21	34					0	0	0.003330	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570507	47570507	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:47570507G>A	ENST00000253048.5	-	15	3055	c.3018C>T	c.(3016-3018)ccC>ccT	p.P1006P	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1006							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGTCCAGGGTGGGCATGGATT	0.741000													27	30					0	0	0.006320	0	0
SEC22C	9117	broad.mit.edu	37	3	42594865	42594865	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:42594865T>C	ENST00000264454.3	-	7	930	c.787A>G	c.(787-789)Aac>Gac	p.N263D	SEC22C_ENST00000417572.1_Intron|SEC22C_ENST00000273156.7_Intron|SEC22C_ENST00000536332.1_Intron|SEC22C_ENST00000423701.2_Intron			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	263					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AGGTACATGTTGCCCAGGCAA	0.458000													14	33					0	0	0.004007	0	0
GAD2	2572	broad.mit.edu	37	10	26562596	26562596	+	Missense_Mutation	SNP	G	G	A	rs8190730	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:26562596G>A	ENST00000376261.3	+	11	1627	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	GAD2_ENST00000259271.3_Missense_Mutation_p.R375Q	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	375			R -> Q (in dbSNP:rs8190730).		glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTGATGTCCCGAAAACACAAG	0.388000													16	31					0	0	0.004990	0	0
C2orf71	388939	broad.mit.edu	37	2	29297043	29297043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:29297043G>A	ENST00000331664.5	-	1	84	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	29					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATCCTGGCCGAATTGCTTTG	0.512000													26	38					0	0	0.005443	0	0
SERPINA3	12	broad.mit.edu	37	14	95085539	95085539	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:95085539G>T	ENST00000553947.1	+	6	1614	c.726G>T	c.(724-726)tgG>tgT	p.W242C	SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000482740.1_5'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.W217C|SERPINA3_ENST00000467132.1_Missense_Mutation_p.W217C|SERPINA3_ENST00000393078.3_Missense_Mutation_p.W217C			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	217					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CAGCCAAATGGGAGATGCCCT	0.532000													17	41					2.48551e-13	3.32318e-13	0.004990	1	0
ESF1	51575	broad.mit.edu	37	20	13695813	13695813	+	Splice_Site	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:13695813A>C	ENST00000202816.1	-	14	2371	c.2262_splice	c.e14-1	p.V755_splice		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	755	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTTAACATTTACCTGCAAATC	0.338000													10	20					0	0	0.010729	0	0
IMMT	10989	broad.mit.edu	37	2	86389137	86389137	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:86389137C>T	ENST00000410111.3	-	8	1245	c.858G>A	c.(856-858)aaG>aaA	p.K286K	IMMT_ENST00000449247.2_Silent_p.K275K|IMMT_ENST00000442664.2_Silent_p.K285K|IMMT_ENST00000409051.2_Silent_p.K239K|IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000254636.5_Silent_p.K187K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	286						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CATCTACTGCCTTTCTGCGTT	0.433000													7	11					0	0	0.013537	0	0
MORC2	22880	broad.mit.edu	37	22	31337889	31337889	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:31337889G>A	ENST00000215862.4	-	9	1864	c.501C>T	c.(499-501)tcC>tcT	p.S167S	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000397641.2_Silent_p.S229S	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	229							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGCCCTCTGGGGACGTCTCTG	0.512000													53	60					0	0	0.014410	0	0
TRIM3	10612	broad.mit.edu	37	11	6478607	6478607	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:6478607G>A	ENST00000525074.1	-	5	1009	c.615C>T	c.(613-615)ttC>ttT	p.F205F	TRIM3_ENST00000359518.3_Silent_p.F205F|TRIM3_ENST00000345851.3_Silent_p.F205F|TRIM3_ENST00000536344.1_Silent_p.F86F|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000537602.1_Silent_p.F205F	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	205					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGTCCTCGAACGCTGCAC	0.612000													34	22					0	0	0.012213	0	0
CRP	1401	broad.mit.edu	37	1	159683855	159683855	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:159683855C>T	ENST00000255030.5	-	2	238	c.135G>A	c.(133-135)acG>acA	p.T45T	CRP_ENST00000368112.1_Silent_p.T45T|CRP_ENST00000368110.1_Silent_p.T45T|CRP_ENST00000437342.1_Intron|CRP_ENST00000343919.2_Silent_p.T45T|CRP_ENST00000368111.1_Silent_p.T45T	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	45	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	p.T45T(2)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TGAGAGGCTTCGTTAACGGTG	0.478000													24	77					0	0	0.002780	0	0
IPO4	79711	broad.mit.edu	37	14	24656149	24656149	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:24656149G>C	ENST00000354464.6	-	8	867	c.691C>G	c.(691-693)Ctg>Gtg	p.L231V	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	231					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GACTCCAACAGTTCATCCAAA	0.552000													20	18					0	0	0.007413	0	0
CCR1	1230	broad.mit.edu	37	3	46245801	46245801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:46245801C>T	ENST00000296140.3	-	2	129	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	2					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TTTGGAGTTTCCATCCCGGCT	0.483000													3	6					0	0	0.004672	0	0
FAHD2A	51011	broad.mit.edu	37	2	96078440	96078440	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:96078440C>T	ENST00000233379.4	+	7	963	c.810C>T	c.(808-810)taC>taT	p.Y270Y	FAHD2A_ENST00000447036.1_Silent_p.Y270Y	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	270							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						TTACCTTTTACCCAGGGGATG	0.552000													11	3					0	0	0.013537	0	0
SOGA2	23255	broad.mit.edu	37	18	8784365	8784365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:8784365G>A	ENST00000359865.3	+	6	1397	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	SOGA2_ENST00000306329.11_Missense_Mutation_p.E779K|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.E419K|SOGA2_ENST00000517570.1_Missense_Mutation_p.E419K	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	770																	GAGTGACTCGGAGGAAATGTT	0.657000													14	33					0	0	0.008871	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955510	18955510	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:18955510G>A	ENST00000302797.3	-	1	1046	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	274					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						AGGAGCCCACGAAGAAGTAAA	0.512000													29	16					0	0	0.006230	0	0
CCDC8	83987	broad.mit.edu	37	19	46915802	46915802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:46915802G>A	ENST00000307522.3	-	1	1039	c.266C>T	c.(265-267)cCg>cTg	p.P89L		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	89						plasma membrane		p.P89L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CAGCCGGGGCGGAGGAGTCAC	0.677000													32	53					0	0	0.004289	0	0
TTC1	7265	broad.mit.edu	37	5	159463750	159463750	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:159463750C>T	ENST00000231238.5	+	4	554	c.444C>T	c.(442-444)tcC>tcT	p.S148S	TTC1_ENST00000522793.1_Silent_p.S148S	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	148					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TGTGCCCATCCTGCTTCCAAA	0.378000													20	37					0	0	0.004656	0	0
NLRP8	126205	broad.mit.edu	37	19	56459573	56459573	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56459573C>G	ENST00000291971.3	+	1	376	c.305C>G	c.(304-306)tCg>tGg	p.S102W	NLRP8_ENST00000590542.1_Missense_Mutation_p.S102W	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	102	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GATGTGACTTCGAACATCTTT	0.507000													18	29					0	0	0.008871	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012965	73012965	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:73012965C>T	ENST00000308744.6	+	4	1103	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Silent_p.S236S|NPFFR2_ENST00000358749.3_Silent_p.S233S|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	335					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTCCCCTCTCCCTCATTGTCA	0.527000													21	12					0	0	0.012319	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724414	38724414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:38724414C>T	ENST00000342213.2	-	1	1160	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	272	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GTAGCACATTCGCAGGCAAAG	0.657000													51	43					0	0	0.014410	0	0
MARK1	4139	broad.mit.edu	37	1	220826508	220826508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:220826508G>A	ENST00000402574.1	+	16	2399	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	MARK1_ENST00000366917.4_Missense_Mutation_p.R601Q|MARK1_ENST00000366918.4_Missense_Mutation_p.R579Q	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	601					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R601Q(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ACTCCAGACCGGACCCGTTTT	0.527000													17	41					0	0	0.006122	0	0
NSUN7	79730	broad.mit.edu	37	4	40778090	40778090	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:40778090C>A	ENST00000381782.2	+	7	1345	c.850C>A	c.(850-852)Cat>Aat	p.H284N	NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Missense_Mutation_p.H284N	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TCTTGCTGTCCATTCTGTAAA	0.328000													14	28					1.15088e-07	1.52799e-07	0.004007	1	0
TSPAN18	90139	broad.mit.edu	37	11	44939592	44939592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:44939592G>A	ENST00000340160.3	+	5	567	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	TSPAN18_ENST00000520358.2_Missense_Mutation_p.E110K	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	110						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						CATCTTCAGGGAAAATGTACG	0.557000													21	60					0	0	0.004656	0	0
MAP1B	4131	broad.mit.edu	37	5	71496071	71496071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:71496071G>A	ENST00000296755.7	+	5	7187	c.6889G>A	c.(6889-6891)Gaa>Aaa	p.E2297K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2297						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGAATCTGTGGAAAAGGCAGC	0.507000													59	58					0	0	0.014410	0	0
PAPOLG	64895	broad.mit.edu	37	2	60988877	60988877	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:60988877C>T	ENST00000238714.3	+	3	430	c.179_splice	c.e3-1	p.L61_splice		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	61					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTTTTATAGGCTGGTGGTTCT	0.328000													46	47					0	0	0.014410	0	0
RAI14	26064	broad.mit.edu	37	5	34830821	34830821	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:34830821T>C	ENST00000265109.3	+	18	3181	c.2894T>C	c.(2893-2895)gTa>gCa	p.V965A	RAI14_ENST00000506376.1_Missense_Mutation_p.V957A|RAI14_ENST00000512629.1_Missense_Mutation_p.V936A|RAI14_ENST00000428746.2_Missense_Mutation_p.V965A|RAI14_ENST00000397449.1_Missense_Mutation_p.V958A|RAI14_ENST00000515799.1_Missense_Mutation_p.V968A|RAI14_ENST00000503673.1_Missense_Mutation_p.V965A	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	965						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GTCCAGAAAGTACTGAAGCAA	0.413000													18	19					0	0	0.008871	0	0
PKN1	5585	broad.mit.edu	37	19	14562737	14562737	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:14562737G>T	ENST00000242783.6	+	7	1232	c.1067G>T	c.(1066-1068)aGc>aTc	p.S356I	PKN1_ENST00000342216.4_Missense_Mutation_p.S362I	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	356	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						ACCCCAGACAGCCGCCCCCCC	0.672000													14	14					4.7546e-09	6.32731e-09	0.004007	1	0
TET2	54790	broad.mit.edu	37	4	106156519	106156519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:106156519C>T	ENST00000540549.1	+	3	2280	c.1420C>T	c.(1420-1422)Ccg>Tcg	p.P474S	TET2_ENST00000305737.2_Missense_Mutation_p.P474S|TET2_ENST00000545826.1_Missense_Mutation_p.P474S|TET2_ENST00000380013.4_Missense_Mutation_p.P474S|TET2_ENST00000394764.1_Missense_Mutation_p.P474S|TET2_ENST00000513237.1_Missense_Mutation_p.P495S|TET2_ENST00000413648.2_Missense_Mutation_p.P474S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	474					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAGCCCTTCTCCGATGCTTTC	0.438000			"""Mis N, F"""		MDS								10	53					0	0	0.010729	0	0
LAS1L	81887	broad.mit.edu	37	X	64734821	64734821	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:64734821G>C	ENST00000374811.3	-	13	2000	c.1960C>G	c.(1960-1962)Cga>Gga	p.R654G	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374804.5_Missense_Mutation_p.R595G|LAS1L_ENST00000374807.5_Missense_Mutation_p.R637G	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	654						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CCTGGCATTCGGCCTAGGGGA	0.572000													18	1					0	0	0.008871	0	0
PGK2	5232	broad.mit.edu	37	6	49754544	49754544	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:49754544C>T	ENST00000304801.3	-	1	509	c.357G>A	c.(355-357)ctG>ctA	p.L119L		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	119					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)					GCAGGTTCTCCAGCAGGATGA	0.512000													22	22					0	0	0.003330	0	0
IGHV3-35	28432	broad.mit.edu	37	14	106845512	106845512	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:106845512G>A	ENST00000390617.2	-	0	176																											GATGGACCCAGTTCATGTCAC	0.567000													56	65					0	0	0.014410	0	0
GCN1L1	10985	broad.mit.edu	37	12	120580353	120580353	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:120580353G>A	ENST00000300648.6	-	44	5799	c.5787C>T	c.(5785-5787)ctC>ctT	p.L1929L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1929					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACCCAGCAGGAGCCCAAAGA	0.587000													26	25					0	0	0.013726	0	0
SLC38A3	10991	broad.mit.edu	37	3	50253244	50253244	+	RNA	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:50253244A>G	ENST00000420502.1	+	0	692							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	AACCTGGAGGAGAAAACCTCG	0.662000													3	2					0	0	0.004672	0	0
NR5A2	2494	broad.mit.edu	37	1	199997000	199997000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:199997000G>A	ENST00000367362.3	+	1	271	c.25G>A	c.(25-27)Gat>Aat	p.D9N	NR5A2_ENST00000236914.3_Missense_Mutation_p.D9N	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	9					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AGATACTGGGGATTTACAAGA	0.328000													15	46					0	0	0.010504	0	0
NHEJ1	79840	broad.mit.edu	37	2	219942890	219942890	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:219942890G>A	ENST00000356853.5	-	6	760	c.627C>T	c.(625-627)ccC>ccT	p.P209P	NHEJ1_ENST00000409720.1_Silent_p.P209P|NHEJ1_ENST00000483627.1_5'UTR	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	209					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TCATGACAAAGGGCTTTCCAT	0.493000								Non-homologous end-joining					34	32					0	0	0.004878	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841674	4841674	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4841674G>A	ENST00000225665.7	-	5	937	c.597C>T	c.(595-597)ctC>ctT	p.L199L	SLC25A11_ENST00000544061.2_Silent_p.L148L	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	199					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						AGTAGGAGGCGAGCTGGGCAG	0.607000													13	31					0	0	0.002450	0	0
TRANK1	9881	broad.mit.edu	37	3	36898526	36898526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:36898526C>T	ENST00000301807.6	-	12	2802	c.905G>A	c.(904-906)gGa>gAa	p.G302E	TRANK1_ENST00000428977.2_Missense_Mutation_p.G302E|TRANK1_ENST00000429976.2_Missense_Mutation_p.G852E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	852					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						CATCCGGGCTCCTTTGTCCAG	0.562000													9	9					0	0	0.006214	0	0
ZNF665	79788	broad.mit.edu	37	19	53678753	53678753	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:53678753C>T	ENST00000396424.3	-	3	176	c.87G>A	c.(85-87)caG>caA	p.Q29Q	ZNF665_ENST00000600412.1_Intron	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q29H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACAAAGTCTTCTGAGCAGGGT	0.458000													20	109					0	0	0.010504	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448481	142448481	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:142448481G>A	ENST00000422143.2	+	0	142																											AGCCAAGCAGGGATATCTGTC	0.522000													30	40					0	0	0.003271	0	0
OTOP1	133060	broad.mit.edu	37	4	4214696	4214696	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:4214696G>A	ENST00000296358.4	-	2	463	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	147					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGCATCCCAGGATGACGGTA	0.398000													7	14					0	0	0.001984	0	0
LARP4	113251	broad.mit.edu	37	12	50869446	50869446	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:50869446G>A	ENST00000398473.2	+	16	2086	c.1974G>A	c.(1972-1974)gaG>gaA	p.E658E	LARP4_ENST00000293618.8_Silent_p.E587E|LARP4_ENST00000429001.3_Silent_p.E664E|LARP4_ENST00000347328.5_Silent_p.E587E|LARP4_ENST00000518444.1_Silent_p.E657E	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	658							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GAGCTCCTGAGAACTCCGTTG	0.498000													24	53					0	0	0.003330	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335459	42335459	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:42335459A>T	ENST00000262418.6	-	11	1332	c.1177T>A	c.(1177-1179)Tac>Aac	p.Y393N	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	393					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCACTCAGGTAATAGGGGTAG	0.602000													45	49					0	0	0.014410	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32489901	32489901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32489901C>T	ENST00000374975.3	-	2	213	c.151G>A	c.(151-153)Gag>Aag	p.E51K		NM_002125.3	NP_002116.2	Q30154	DRB5_HUMAN	major histocompatibility complex, class II, DR beta 5	51	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CGCACCCGCTCCGTCCCGTTG	0.602000													12	2					0	0	0.004990	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255189	140255189	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140255189C>T	ENST00000398631.2	+	1	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCACCTTCGTGGGCCGCA	0.667000													27	33					0	0	0.009535	0	0
ANO4	121601	broad.mit.edu	37	12	101433756	101433756	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:101433756C>T	ENST00000392979.3	+	10	1177	c.816C>T	c.(814-816)tcC>tcT	p.S272S	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Silent_p.S307S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	307						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GTAAAAACTCCATTCGAACCC	0.448000										HNSCC(74;0.22)			56	31					0	0	0.014410	0	0
ZNF568	374900	broad.mit.edu	37	19	37428067	37428067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:37428067C>T	ENST00000415168.1	+	4	465	c.89C>T	c.(88-90)cCg>cTg	p.P30L	ZNF568_ENST00000427117.1_Missense_Mutation_p.P94L|ZNF568_ENST00000455427.2_Missense_Mutation_p.P30L|ZNF568_ENST00000333987.7_Missense_Mutation_p.P94L	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTCACCAAACCGGATGTGATA	0.463000													29	41					0	0	0.010818	0	0
ZNF827	152485	broad.mit.edu	37	4	146824219	146824219	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:146824219G>A	ENST00000508784.1	-	2	419	c.192C>T	c.(190-192)tcC>tcT	p.S64S	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Silent_p.S64S			Q17R98	ZN827_HUMAN	zinc finger protein 827	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CCGGGGACGTGGACTGCTCCT	0.572000													41	28					0	0	0.007835	0	0
TIAM2	26230	broad.mit.edu	37	6	155569312	155569312	+	Splice_Site	SNP	G	G	A	rs147559685		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:155569312G>A	ENST00000461783.3	+	22	5104	c.3832_splice	c.e22+1	p.T1277_splice	TIAM2_ENST00000360366.4_Splice_Site_p.T1301_splice|TIAM2_ENST00000529824.2_Splice_Site_p.T1277_splice|TIAM2_ENST00000318981.5_Splice_Site_p.T1277_splice|TIAM2_ENST00000528391.2_Splice_Site_p.T613_splice|TIAM2_ENST00000367174.2_Splice_Site_p.T653_splice|TIAM2_ENST00000456144.1_Splice_Site_p.T1277_splice|TIAM2_ENST00000275246.7_Splice_Site_p.T202_splice|TIAM2_ENST00000456877.2_Splice_Site_p.T589_splice			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1277	DH.				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	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor 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)		ACCACCTGACGGGTGAGGCGG	0.687000											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	13					0	0	0.006214	0	0
DZIP1	22873	broad.mit.edu	37	13	96263699	96263699	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:96263699C>T	ENST00000347108.3	-	10	1795	c.1363_splice	c.e10+1	p.G455_splice	DZIP1_ENST00000361396.2_Splice_Site_p.V455_splice|DZIP1_ENST00000376829.2_Splice_Site_p.G455_splice|DZIP1_ENST00000361156.3_Splice_Site_p.V455_splice			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	455					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATCCACTTACCTTTGGGTTCA	0.438000													39	65					0	0	0.014410	0	0
KL	9365	broad.mit.edu	37	13	33635799	33635799	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:33635799C>T	ENST00000380099.3	+	4	2591	c.2583C>T	c.(2581-2583)ttC>ttT	p.F861F	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	861	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGCTGAAGTTCAAGTACGGAG	0.517000													38	54					0	0	0.011902	0	0
CDH23	64072	broad.mit.edu	37	10	73464786	73464786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:73464786C>T	ENST00000224721.6	+	24	2872	c.2867C>T	c.(2866-2868)aCc>aTc	p.T956I	CDH23_ENST00000299366.7_Missense_Mutation_p.T996I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	951	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTCACCACCACCGAGCTGGAC	0.662000													35	40					0	0	0.004878	0	0
MIR518D	574489	broad.mit.edu	37	19	54238178	54238178	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:54238178G>A	ENST00000385014.1	+	0	48					NR_030211.1																						TTGTCTGAAAGAAACCAAAGC	0.438000													26	28					0	0	0.006320	0	0
CTNND2	1501	broad.mit.edu	37	5	11364854	11364854	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:11364854C>T	ENST00000304623.8	-	8	1515	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.G351G|CTNND2_ENST00000458100.2_Silent_p.G9G|CTNND2_ENST00000359640.2_Silent_p.G442G|CTNND2_ENST00000503622.1_Silent_p.G105G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	442					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCAGAGGGTCCCCCTGGCTCT	0.632000													19	22					0	0	0.012319	0	0
WWC1	23286	broad.mit.edu	37	5	167882444	167882444	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:167882444C>T	ENST00000265293.4	+	19	3244	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S	WWC1_ENST00000521089.1_Silent_p.S914S|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	914	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCACCCCGTCCCAGGGGCCAT	0.632000													42	49					0	0	0.014410	0	0
MYH4	4622	broad.mit.edu	37	17	10351389	10351389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10351389G>A	ENST00000255381.2	-	34	4821	c.4711C>T	c.(4711-4713)Cag>Tag	p.Q1571*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1571					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GATTTCACCTGATTTAGCTCA	0.368000													12	24					0	0	0.013537	0	0
KMT2D	8085	broad.mit.edu	37	12	49422929	49422929	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:49422929G>A	ENST00000301067.7	-	44	14165	c.14166C>T	c.(14164-14166)ttC>ttT	p.F4722F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCAGATGAGGGAAACGAGGGG	0.612000													4	6					0	0	0.009096	0	0
ABCD2	225	broad.mit.edu	37	12	40013110	40013110	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:40013110T>C	ENST00000308666.3	-	1	443	c.308A>G	c.(307-309)gAa>gGa	p.E103G		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	103	Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CCACCCTGTTTCAGTGGTCAC	0.428000													15	29					0	0	0.003163	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42797892	42797892	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:42797892G>A	ENST00000314073.5	+	6	1997	c.1821G>A	c.(1819-1821)caG>caA	p.Q607Q	GLTSCR1L_ENST00000394168.1_Silent_p.Q607Q					GLTSCR1-like																		CAGGAACCCAGCAACAATTCT	0.398000													15	18					0	0	0.004007	0	0
ENO1	2023	broad.mit.edu	37	1	8925418	8925418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:8925418G>A	ENST00000234590.4	-	8	910	c.791C>T	c.(790-792)cCc>cTc	p.P264L		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	264					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGGGTCATCGGGAGACTTGAA	0.557000													33	26					0	0	0.003755	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174719	150174719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:150174719C>T	ENST00000307271.3	+	5	2423	c.1849C>T	c.(1849-1851)Ctt>Ttt	p.L617F		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	617						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGTGAAAGCTCTTTTAACAAA	0.443000													47	54					0	0	0.014410	0	0
SPATA20	64847	broad.mit.edu	37	17	48625655	48625655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:48625655C>T	ENST00000006658.6	+	3	257	c.137C>T	c.(136-138)tCc>tTc	p.S46F	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_5'UTR|SPATA20_ENST00000356488.4_Missense_Mutation_p.S30F	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	30					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GGTAGCTCCTCCCGGGACAAG	0.632000													6	15					0	0	0.008291	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260749	42260749	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:42260749C>T	ENST00000199764.6	+	2	524	c.306C>T	c.(304-306)taC>taT	p.Y102Y	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	102	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AGACAATATACCCCAATGCAT	0.463000													110	130					0	0	0.014410	0	0
MICALL1	85377	broad.mit.edu	37	22	38321962	38321962	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:38321962C>T	ENST00000215957.6	+	8	1503	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	459	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CACCCAAGTCCCTGCACCCCT	0.677000													5	8					0	0	0.001984	0	0
GPR112	139378	broad.mit.edu	37	X	135428274	135428274	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:135428274A>T	ENST00000394143.1	+	6	2700	c.2409A>T	c.(2407-2409)gaA>gaT	p.E803D	GPR112_ENST00000287534.4_Missense_Mutation_p.E740D|GPR112_ENST00000394141.1_Missense_Mutation_p.E598D|GPR112_ENST00000370652.1_Missense_Mutation_p.E803D|GPR112_ENST00000412101.1_Missense_Mutation_p.E598D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	803					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)					CTACTGAGGAAAGTGCTTCTG	0.388000													11	0					0	0	0.010729	0	0
ZBTB16	7704	broad.mit.edu	37	11	113935271	113935271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:113935271G>A	ENST00000335953.4	+	2	1629	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E417K	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	417					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCCTGATAACGAGGCTGTGGA	0.632000													28	27					0	0	0.009535	0	0
PSEN2	5664	broad.mit.edu	37	1	227069665	227069665	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:227069665C>T	ENST00000366782.1	+	4	656	c.156C>T	c.(154-156)tcC>tcT	p.S52S	PSEN2_ENST00000391872.2_Silent_p.S52S|PSEN2_ENST00000366783.3_Silent_p.S19S|PSEN2_ENST00000340188.4_Silent_p.S19S|PSEN2_ENST00000422240.2_Silent_p.S19S			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	19					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				AGCGGACGTCCCTAATGTCGG	0.612000													22	69					0	0	0.003954	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431774	140431774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140431774C>T	ENST00000306549.3	+	1	796	c.719C>T	c.(718-720)cCc>cTc	p.P240L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		240	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCACGTGCCCCAGTTCTCG	0.602000													13	10					0	0	0.001855	0	0
MSH3	4437	broad.mit.edu	37	5	79970818	79970818	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:79970818C>T	ENST00000265081.6	+	7	1124	c.1044C>T	c.(1042-1044)atC>atT	p.I348I		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	348					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATCCCCTAATCAAGCTGGATG	0.279000								Mismatch excision repair (MMR)					9	7					0	0	0.004482	0	0
GDPD4	220032	broad.mit.edu	37	11	76979976	76979976	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:76979976G>T	ENST00000315938.4	-	8	867	c.617C>A	c.(616-618)gCa>gAa	p.A206E	GDPD4_ENST00000376217.2_Missense_Mutation_p.A206E	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	206	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TACCATGGGTGCACCTCTATG	0.473000													83	86					1.01459e-35	1.36754e-35	0.014410	1	0
ERLIN1	10613	broad.mit.edu	37	10	101943537	101943537	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:101943537G>A	ENST00000421367.2	-	2	2878	c.171C>T	c.(169-171)ttC>ttT	p.F57F	ERLIN1_ENST00000407654.3_Silent_p.F57F	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	55					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		ACGTAGTAATGAAAGGCAACA	0.433000													36	34					0	0	0.006999	0	0
LPA	4018	broad.mit.edu	37	6	160977130	160977130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:160977130C>T	ENST00000447678.1	-	31	5020	c.4900G>A	c.(4900-4902)Gga>Aga	p.G1634R	LPA_ENST00000316300.5_Missense_Mutation_p.G1634R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4142	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.G1634*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CATGTCCTTCCTGTGACAGTG	0.483000													32	39					0	0	0.005524	0	0
TTN	7273	broad.mit.edu	37	2	179442799	179442799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179442799C>T	ENST00000589042.1	-	322	68667	c.68443G>A	c.(68443-68445)Gaa>Aaa	p.E22815K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E13750K|TTN_ENST00000359218.5_Missense_Mutation_p.E13875K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13942K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E20247K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E21174K|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21174	Ig-like 117.						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)			ACTCGGAATTCATATTCAAGA	0.428000													6	15					0	0	0.001168	0	0
MAN2A1	4124	broad.mit.edu	37	5	109159519	109159519	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:109159519C>T	ENST00000261483.4	+	16	3599	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	849					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CTCATAGAGTCCGACTATACC	0.358000													30	36					0	0	0.008361	0	0
IL18R1	8809	broad.mit.edu	37	2	103010932	103010932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:103010932G>A	ENST00000409599.1	+	11	1471	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	IL18R1_ENST00000233957.1_Missense_Mutation_p.G372E			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	372					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTCCTAGATGGAAAAACATAT	0.358000													19	7					0	0	0.002780	0	0
ILDR2	387597	broad.mit.edu	37	1	166926004	166926004	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:166926004C>T	ENST00000271417.3	-	3	520	c.465G>A	c.(463-465)ggG>ggA	p.G155G	ILDR2_ENST00000469934.2_Silent_p.G155G|ILDR2_ENST00000529071.1_Silent_p.G155G|ILDR2_ENST00000528703.1_Silent_p.G155G|ILDR2_ENST00000526687.1_Silent_p.G155G|ILDR2_ENST00000525740.1_Silent_p.G155G|ILDR2_ENST00000529387.1_Silent_p.G155G	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	155	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCTCATTTTTCCCCTCCAGGT	0.438000													45	11					0	0	0.013114	0	0
RS1	6247	broad.mit.edu	37	X	18674775	18674775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:18674775G>A	ENST00000379984.3	-	3	222	c.182C>T	c.(181-183)cCa>cTa	p.P61L		NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	61					cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					ATACTCACCTGGTATACAGTC	0.537000													67	0					0	0	0.014410	0	0
PRAMEF7	441871	broad.mit.edu	37	1	12979810	12979810	+	Silent	SNP	C	C	T	rs144939857		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:12979810C>T	ENST00000361079.2	+	4	1085	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	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;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)		TGACCCATTTCAGCCCTGAGC	0.577000													18	58					0	0	0.008871	0	0
GABRG1	2565	broad.mit.edu	37	4	46060577	46060577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:46060577G>A	ENST00000295452.4	-	6	855	c.688C>T	c.(688-690)Cct>Tct	p.P230S		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	230					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CAGTATTTAGGATCAGCCACT	0.348000													6	7					0	0	0.001168	0	0
CARD6	84674	broad.mit.edu	37	5	40852977	40852977	+	Missense_Mutation	SNP	G	G	A	rs76751505	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:40852977G>A	ENST00000254691.5	+	3	1742	c.1543G>A	c.(1543-1545)Gat>Aat	p.D515N	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	515					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCCTGATAGCGATGATAGAAA	0.413000													34	34					0	0	0.003271	0	0
DNTT	1791	broad.mit.edu	37	10	98064428	98064428	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:98064428G>A	ENST00000419175.1	+	1	344	c.174G>A	c.(172-174)agG>agA	p.R58R	DNTT_ENST00000371174.2_Silent_p.R58R|RP11-35J23.1_ENST00000454484.2_RNA	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	58	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGGCCCGCAGGAAAGGGTTCA	0.478000													6	17					0	0	0.003080	0	0
SHANK3	85358	broad.mit.edu	37	22	51143464	51143464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:51143464C>T	ENST00000414786.2	+	16	2154	c.1927C>T	c.(1927-1929)Ctc>Ttc	p.L643F	SHANK3_ENST00000262795.3_Missense_Mutation_p.L673F|SHANK3_ENST00000445220.2_Missense_Mutation_p.L658F			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	673										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGGCAACCGCCTCGTCATGAA	0.612000													30	31					0	0	0.012213	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634974	70634974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:70634974C>T	ENST00000381269.2	-	2	919	c.166G>A	c.(166-168)Gag>Aag	p.E56K	SLC8A3_ENST00000534137.1_Missense_Mutation_p.E56K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E56K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E56K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E56K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	56					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATGACACCCTCCTTGCAGTCC	0.547000													11	15					0	0	0.001855	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523950	24523950	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:24523950C>T	ENST00000376862.3	+	2	850	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	73					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						GATGCAGCAGCTGCTGGACCC	0.662000													23	26					0	0	0.014323	0	0
LINC00477	144360	broad.mit.edu	37	12	24736446	24736446	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:24736446G>A	ENST00000483544.1	-	0	656					NR_029451.2																						GTGGGCAGAAGAAAAGGAAGT	0.552000													10	6					0	0	0.006214	0	0
ABCA10	10349	broad.mit.edu	37	17	67189349	67189349	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:67189349A>G	ENST00000269081.4	-	16	2591	c.1682T>C	c.(1681-1683)tTt>tCt	p.F561S	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	561	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTGTCTTGAAAAGGGATCCAA	0.473000													15	26					0	0	0.004990	0	0
ANO4	121601	broad.mit.edu	37	12	101488063	101488063	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:101488063G>A	ENST00000392979.3	+	17	1987	c.1626G>A	c.(1624-1626)acG>acA	p.T542T	ANO4_ENST00000550015.1_Silent_p.T97T|ANO4_ENST00000299222.9_Silent_p.T97T|ANO4_ENST00000392977.3_Silent_p.T577T	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	577						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGCTTCTGACGAATTTAGGTG	0.328000										HNSCC(74;0.22)			20	7					0	0	0.014323	0	0
TRAIP	10293	broad.mit.edu	37	3	49878430	49878430	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49878430G>A	ENST00000331456.2	-	8	806	c.693C>T	c.(691-693)tcC>tcT	p.S231S	TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	231	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCTTCTGGAGGAAAACAAAT	0.502000											OREG0015575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	93					0	0	0.014410	0	0
CDH23	64072	broad.mit.edu	37	10	73491868	73491868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:73491868G>A	ENST00000224721.6	+	31	3860	c.3855G>A	c.(3853-3855)atG>atA	p.M1285I	C10orf105_ENST00000398786.2_Intron	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1280	Cadherin 12.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCAGCTACATGATGAATGTGT	0.567000													19	10					0	0	0.004656	0	0
CEP78	84131	broad.mit.edu	37	9	80881579	80881579	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:80881579C>T	ENST00000424347.2	+	15	2308	c.2019C>T	c.(2017-2019)tcC>tcT	p.S673S	CEP78_ENST00000415759.2_Silent_p.S674S|CEP78_ENST00000376597.4_Silent_p.S690S|CEP78_ENST00000376598.2_Silent_p.S689S|CEP78_ENST00000277082.5_Silent_p.S673S			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	673					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AGGAGTTGTCCAGAAATAGCA	0.423000													10	3					0	0	0.010729	0	0
CD33	945	broad.mit.edu	37	19	51728498	51728498	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:51728498T>A	ENST00000262262.4	+	2	83	c.62T>A	c.(61-63)tTc>tAc	p.F21Y	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.F21Y	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	21	Ig-like V-type.				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)	GATCCAAATTTCTGGCTGCAA	0.602000													21	30					0	0	0.014323	0	0
TTN	7273	broad.mit.edu	37	2	179577120	179577120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179577120C>T	ENST00000589042.1	-	95	27753	c.27529G>A	c.(27529-27531)Gag>Aag	p.E9177K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7933K|TTN_ENST00000591111.1_Missense_Mutation_p.E8860K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8860	Ig-like 75.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGCATCCTCTACTGTGCTA	0.383000													38	27					0	0	0.004878	0	0
EPS8L1	54869	broad.mit.edu	37	19	55594784	55594784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55594784C>T	ENST00000201647.6	+	13	1309	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	EPS8L1_ENST00000245618.5_Missense_Mutation_p.P291L|EPS8L1_ENST00000586329.1_Missense_Mutation_p.P400L|EPS8L1_ENST00000540810.1_Missense_Mutation_p.P354L|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000588359.1_Missense_Mutation_p.P72L	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	418						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCATACAGACCCGAGTTCTTC	0.672000													11	8					0	0	0.010729	0	0
WDR72	256764	broad.mit.edu	37	15	54008862	54008862	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:54008862A>C	ENST00000396328.1	-	4	520	c.281T>G	c.(280-282)gTc>gGc	p.V94G	WDR72_ENST00000360509.5_Missense_Mutation_p.V94G|WDR72_ENST00000557913.1_Missense_Mutation_p.V94G|WDR72_ENST00000559418.1_Missense_Mutation_p.V94G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	94										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCCATTGGTGACATTCCAAAC	0.423000													15	38					0	0	0.006122	0	0
TIAM2	26230	broad.mit.edu	37	6	155569313	155569313	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:155569313G>A	ENST00000461783.3	+	22	5105	c.3832_splice	c.e22+1	p.E1278_splice	TIAM2_ENST00000360366.4_Splice_Site_p.E1302_splice|TIAM2_ENST00000529824.2_Splice_Site_p.E1278_splice|TIAM2_ENST00000318981.5_Splice_Site_p.E1278_splice|TIAM2_ENST00000528391.2_Splice_Site_p.E614_splice|TIAM2_ENST00000367174.2_Splice_Site_p.E654_splice|TIAM2_ENST00000456144.1_Splice_Site_p.E1278_splice|TIAM2_ENST00000275246.7_Splice_Site_p.E203_splice|TIAM2_ENST00000456877.2_Splice_Site_p.E590_splice			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1278	DH.				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	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor 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)		CCACCTGACGGGTGAGGCGGC	0.687000											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	13					0	0	0.006214	0	0
COL5A3	50509	broad.mit.edu	37	19	10084626	10084626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:10084626G>A	ENST00000264828.3	-	48	3612	c.3527C>T	c.(3526-3528)cCt>cTt	p.P1176L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1176	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGACCCCGAGGACCTGGAGC	0.582000													23	33					0	0	0.005443	0	0
MUC7	4589	broad.mit.edu	37	4	71339741	71339741	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:71339741G>A	ENST00000413702.1	+	3	291	c.3G>A	c.(1-3)atG>atA	p.M1I	MUC7_ENST00000456088.1_Start_Codon_SNP_p.M1I|MUC7_ENST00000304887.5_Start_Codon_SNP_p.M1I|MUC7_ENST00000514512.1_Intron	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	1						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CAGAAAGAATGAAAACTCTGC	0.363000													27	20					0	0	0.008361	0	0
NF1	4763	broad.mit.edu	37	17	29556131	29556131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:29556131C>T	ENST00000358273.4	+	21	2881	c.2498C>T	c.(2497-2499)tCc>tTc	p.S833F	NF1_ENST00000356175.3_Missense_Mutation_p.S833F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	833					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACACAGACTCCCTACAGGAA	0.507000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			11	5					0	0	0.008291	0	0
PRDM9	56979	broad.mit.edu	37	5	23510065	23510065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:23510065G>A	ENST00000296682.3	+	4	412	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	77	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTGTCACCGAAGGCAGGCC	0.468000										HNSCC(3;0.000094)			26	37					0	0	0.007291	0	0
DNAH9	1770	broad.mit.edu	37	17	11666909	11666909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:11666909G>A	ENST00000262442.3	+	36	7216	c.7148G>A	c.(7147-7149)gGc>gAc	p.G2383D	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2383D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2383					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGGCTTTCGGCGGAGCAATG	0.463000													4	18					0	0	0.009096	0	0
DNAH3	55567	broad.mit.edu	37	16	20955837	20955837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20955837C>T	ENST00000261383.3	-	58	11491	c.11492G>A	c.(11491-11493)gGa>gAa	p.G3831E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3831					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGCCACTTCCTCCTGACTG	0.557000													36	57					0	0	0.006999	0	0
TSKS	60385	broad.mit.edu	37	19	50250040	50250040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50250040G>A	ENST00000246801.3	-	6	761	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F	TSKS_ENST00000358830.3_Missense_Mutation_p.L27F	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	227							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		tgctgctgGAGGTAGCGCAGC	0.662000													7	11					0	0	0.006214	0	0
THBS4	7060	broad.mit.edu	37	5	79368145	79368145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:79368145G>A	ENST00000350881.2	+	14	1955	c.1765G>A	c.(1765-1767)Gac>Aac	p.D589N	THBS4_ENST00000511733.1_Missense_Mutation_p.D498N|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	589					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TCCCAATCGTGACCAACGGGA	0.463000													131	181					0	0	0.014410	0	0
NGFR	4804	broad.mit.edu	37	17	47583675	47583675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:47583675G>A	ENST00000172229.3	+	3	348	c.223G>A	c.(223-225)Gac>Aac	p.D75N	NGFR_ENST00000504201.1_5'UTR|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	75					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GACGTTCTCCGACGTGGTGAG	0.677000													18	21					0	0	0.012319	0	0
GPC6	10082	broad.mit.edu	37	13	95055328	95055328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:95055328G>A	ENST00000377047.4	+	9	2140	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	509						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GTGTCCCACGGAGTTTGAGTT	0.562000													65	69					0	0	0.014410	0	0
KSR2	283455	broad.mit.edu	37	12	117962911	117962911	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:117962911G>A	ENST00000425217.1	-	14	1932	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.F352F|KSR2_ENST00000339824.5_Silent_p.F655F	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	655					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTCCTGAAGGAAGATGCTGG	0.607000													8	42					0	0	0.006214	0	0
TRGV8	6982	broad.mit.edu	37	7	38370429	38370429	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:38370429C>T	ENST00000390343.2	-	0	107																											GCATGCCTTCCTCTCTGGGGT	0.498000													30	25					0	0	0.010818	0	0
ERG	2078	broad.mit.edu	37	21	39772567	39772567	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:39772567C>T	ENST00000417133.2	-	8	880	c.694_splice	c.e8-1	p.G232_splice	ERG_ENST00000398897.1_Intron|ERG_ENST00000453032.2_Splice_Site_p.G133_splice|ERG_ENST00000398910.1_Splice_Site_p.G232_splice|ERG_ENST00000398907.1_Splice_Site_p.G225_splice|ERG_ENST00000288319.7_Splice_Site_p.G225_splice|ERG_ENST00000398905.1_Intron|ERG_ENST00000429727.2_Intron|ERG_ENST00000442448.1_Intron|ERG_ENST00000398911.1_Intron|ERG_ENST00000398919.2_Splice_Site_p.G232_splice	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	232					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.G232E(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AGCTGCACCCCCTGCAGACAA	0.428000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								19	31					0	0	0.007413	0	0
SERPINB7	8710	broad.mit.edu	37	18	61465975	61465975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:61465975C>T	ENST00000398019.2	+	6	917	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S	SERPINB7_ENST00000540675.1_Missense_Mutation_p.P181S|SERPINB7_ENST00000546027.1_Missense_Mutation_p.P198S|SERPINB7_ENST00000336429.2_Missense_Mutation_p.P198S	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	198					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTTCAAATCTCCCAAGGTATG	0.413000													7	22					0	0	0.003080	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183079	167183079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:167183079C>T	ENST00000476257.1	-	6	1079	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	SERPINI2_ENST00000471111.1_Missense_Mutation_p.E261K|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E261K|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E261K			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	261					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TTTTCCACTTCTTCTATATCC	0.358000													23	20					0	0	0.005443	0	0
GABRA1	2554	broad.mit.edu	37	5	161324243	161324243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:161324243G>A	ENST00000428797.2	+	11	1541	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	GABRA1_ENST00000420560.1_Missense_Mutation_p.E396K|GABRA1_ENST00000444819.1_Missense_Mutation_p.E396K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E396K|GABRA1_ENST00000393943.4_Missense_Mutation_p.E396K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E396K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	396					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGCAACCATAGAACCTAAAGA	0.478000													32	49					0	0	0.009535	0	0
ATP5SL	55101	broad.mit.edu	37	19	41944318	41944318	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41944318G>A	ENST00000221943.9	-	2	25	c.18_splice	c.e2-1	p.S7_splice	ATP5SL_ENST00000590641.2_Splice_Site_p.S13_splice|ATP5SL_ENST00000589970.1_Splice_Site_p.S7_splice|ATP5SL_ENST00000592922.2_Splice_Site_p.S7_splice|ATP5SL_ENST00000417807.3_Splice_Site_p.S13_splice|ATP5SL_ENST00000597457.1_Splice_Site_p.S7_splice|ATP5SL_ENST00000438807.3_Splice_Site_p.S7_splice|ATP5SL_ENST00000301183.11_Splice_Site_p.S13_splice|ATP5SL_ENST00000595425.1_Splice_Site_p.S7_splice	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	7										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						CAGGCGCAGGGACTGGGGAGG	0.617000													5	6					0	0	0.000602	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773644	35773644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:35773644C>T	ENST00000360215.1	+	1	574	c.197C>T	c.(196-198)tCc>tTc	p.S66F	LHFPL5_ENST00000373853.1_Missense_Mutation_p.S66F	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	66						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GGCCTTTTCTCCTACTGCGTG	0.587000													65	69					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179395115	179395115	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179395115T>C	ENST00000589042.1	-	358	106451	c.106227A>G	c.(106225-106227)gaA>gaG	p.E35409E	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000460472.2_Silent_p.E26344E|TTN_ENST00000359218.5_Silent_p.E26469E|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Silent_p.E26536E|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.E32841E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000591111.1_Silent_p.E33768E|TTN-AS1_ENST00000587944.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33768							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)			GAGCTTTTGGTTCAGTTTTTC	0.378000													24	51					0	0	0.006320	0	0
HECTD4	283450	broad.mit.edu	37	12	112622799	112622799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:112622799G>A	ENST00000550722.1	-	61	9928	c.9533C>T	c.(9532-9534)tCg>tTg	p.S3178L	HECTD4_ENST00000377560.5_Missense_Mutation_p.S3152L|HECTD4_ENST00000430131.2_Missense_Mutation_p.S2902L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTTGCCCGACGAGGAGGCCTT	0.632000													3	5					0	0	0.004672	0	0
CTNNA3	29119	broad.mit.edu	37	10	67680275	67680275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:67680275C>T	ENST00000433211.1	-	18	2675	c.2501G>A	c.(2500-2502)cGa>cAa	p.R834Q	CTNNA3_ENST00000373735.1_Missense_Mutation_p.R173Q|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R834Q	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	834					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTCTGGATTCGGATGATCTT	0.463000													33	51					0	0	0.004289	0	0
NCOR2	9612	broad.mit.edu	37	12	124839461	124839461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:124839461G>A	ENST00000356219.3	-	26	3582	c.3427C>T	c.(3427-3429)Ccg>Tcg	p.P1143S	NCOR2_ENST00000404621.1_Missense_Mutation_p.P1126S|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1127S|NCOR2_ENST00000404121.2_Missense_Mutation_p.P697S|NCOR2_ENST00000405201.1_Missense_Mutation_p.P1136S|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1126S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1144					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTGAGTACGGGACGTGGAGC	0.662000													17	12					0	0	0.007413	0	0
OBSCN	84033	broad.mit.edu	37	1	228494234	228494234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:228494234G>A	ENST00000570156.2	+	55	14766	c.14692G>A	c.(14692-14694)Ggc>Agc	p.G4898S	OBSCN_ENST00000422127.1_Missense_Mutation_p.G3941S|OBSCN_ENST00000284548.11_Missense_Mutation_p.G3941S|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1060S|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1575S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3941	IQ.|Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGGCTTCAGGGCTGCACCGC	0.632000													16	48					0	0	0.008871	0	0
OR8B3	390271	broad.mit.edu	37	11	124266365	124266365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:124266365C>T	ENST00000354597.3	-	1	899	c.883G>A	c.(883-885)Gat>Aat	p.D295N		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACTTTGACATCCTTGTTCCTC	0.348000													7	23					0	0	0.001984	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573626	38573626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:38573626C>T	ENST00000222345.6	+	3	1930	c.1421C>T	c.(1420-1422)tCg>tTg	p.S474L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	474					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCAGCATCTCGGTGTTGGAA	0.672000													23	25					0	0	0.003330	0	0
TG	7038	broad.mit.edu	37	8	133900807	133900807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:133900807C>T	ENST00000220616.4	+	10	2795	c.2755C>T	c.(2755-2757)Cca>Tca	p.P919S	TG_ENST00000377869.1_Missense_Mutation_p.P919S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	919	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGCAAGCTCCCAACATGTGA	0.463000													7	14					0	0	0.004482	0	0
FAM98B	283742	broad.mit.edu	37	15	38765776	38765776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:38765776C>T	ENST00000397609.2	+	5	637	c.602C>T	c.(601-603)tCa>tTa	p.S201L	FAM98B_ENST00000491535.1_Missense_Mutation_p.S201L	NM_173611.2	NP_775882.2	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	201						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GATTTAAATTCAGAACAGGCG	0.279000													36	0					0	0	0.011902	0	0
CALML5	51806	broad.mit.edu	37	10	5541009	5541009	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:5541009G>C	ENST00000380332.3	-	1	524	c.393C>G	c.(391-393)gaC>gaG	p.D131E		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	131	EF-hand 4.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						TCACCCGCCCGTCCTGGTCCA	0.716000													3	8					0	0	0.009096	0	0
FRMPD2	143162	broad.mit.edu	37	10	49431207	49431207	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:49431207G>T	ENST00000374201.3	-	11	1577	c.1275C>A	c.(1273-1275)ttC>ttA	p.F425L	FRMPD2_ENST00000305531.3_Missense_Mutation_p.F401L|FRMPD2_ENST00000407470.4_Missense_Mutation_p.F394L	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	425	FERM.				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)		TTATCCTCAGGAAGAGTGTGA	0.463000													36	46					5.20837e-25	6.99891e-25	0.008740	1	0
VAV2	7410	broad.mit.edu	37	9	136641194	136641194	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:136641194G>A	ENST00000371851.1	-	22	2269	c.1944C>T	c.(1942-1944)atC>atT	p.I648I	VAV2_ENST00000406606.3_Silent_p.I648I|VAV2_ENST00000371850.3_Silent_p.I658I			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	658	SH3 1.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GCGGCCGGCTGATGGGCGGCT	0.632000													18	37					0	0	0.012319	0	0
F8	2157	broad.mit.edu	37	X	154159290	154159290	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:154159290G>A	ENST00000360256.4	-	14	2975	c.2775C>T	c.(2773-2775)ccC>ccT	p.P925P		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	925	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCATACTTGGGGGTCCTAAGG	0.388000													29	0					0	0	0.012213	0	0
RNF32	140545	broad.mit.edu	37	7	156447389	156447389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:156447389G>A	ENST00000392741.2	+	3	482	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	RNF32_ENST00000343665.4_Missense_Mutation_p.E132K|RNF32_ENST00000405335.1_Missense_Mutation_p.E132K|RNF32_ENST00000392743.2_Missense_Mutation_p.E132K|RNF32_ENST00000432459.2_Missense_Mutation_p.E132K|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000317955.5_Missense_Mutation_p.E132K|RNF32_ENST00000311822.8_Missense_Mutation_p.E132K			Q9H0A6	RNF32_HUMAN	ring finger protein 32	132						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CATCTGTAAAGAAGAATTCGA	0.557000													22	27					0	0	0.006320	0	0
SNX29	92017	broad.mit.edu	37	16	12618696	12618696	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:12618696C>T	ENST00000566228.1	+	20	2385	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F	SNX29_ENST00000323433.4_Silent_p.F387F|SNX29_ENST00000306030.3_Silent_p.F387F	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	387					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGCCCTTCTTCGTGTAAGTAC	0.572000													46	56					0	0	0.014410	0	0
NAV3	89795	broad.mit.edu	37	12	78444681	78444681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:78444681C>T	ENST00000397909.2	+	11	2443	c.2270C>T	c.(2269-2271)cCc>cTc	p.P757L	NAV3_ENST00000228327.6_Missense_Mutation_p.P757L|NAV3_ENST00000536525.2_Missense_Mutation_p.P757L|NAV3_ENST00000266692.7_Missense_Mutation_p.P757L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	757						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGAGATGCTCCCTCCCTGGGT	0.587000										HNSCC(70;0.22)			8	1					0	0	0.004482	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022432	51022432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:51022432G>A	ENST00000599957.1	-	3	735	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R180C			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	180						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GAGGGCACGCGGTTGAAGGCG	0.662000													20	29					0	0	0.014323	0	0
ZYG11B	79699	broad.mit.edu	37	1	53262457	53262457	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:53262457G>A	ENST00000294353.6	+	8	1630		c.e8+1		ZYG11B_ENST00000443756.2_Splice_Site|ZYG11B_ENST00000545132.1_Splice_Site	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator								protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CATTGTCAGGGTAAGTCTATA	0.328000													31	13					0	0	0.004289	0	0
CCR9	10803	broad.mit.edu	37	3	45936438	45936438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:45936438G>A	ENST00000357632.2	+	2	193	c.13G>A	c.(13-15)Gac>Aac	p.D5N	CCR9_ENST00000395963.2_Intron|CCR9_ENST00000422395.1_Missense_Mutation_p.D5N|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_5'UTR	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	5					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GACACCCACAGACTTCACAGT	0.493000													27	56					0	0	0.010818	0	0
SRRM2	23524	broad.mit.edu	37	16	2817906	2817906	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:2817906C>T	ENST00000301740.8	+	11	7926	c.7377C>T	c.(7375-7377)tcC>tcT	p.S2459S	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2459	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGACCAATCCCGTTGTTTGA	0.572000													22	20					0	0	0.014323	0	0
PCDH15	65217	broad.mit.edu	37	10	55569124	55569124	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:55569124G>A	ENST00000395445.1	-	36	5080	c.4686C>T	c.(4684-4686)atC>atT	p.I1562I	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Silent_p.I427I|PCDH15_ENST00000395440.1_Silent_p.I496I|PCDH15_ENST00000395446.1_Silent_p.I758I|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAAGGTCAACGATTCCTCTTT	0.433000										HNSCC(58;0.16)			18	20					0	0	0.004990	0	0
COL9A1	1297	broad.mit.edu	37	6	70926715	70926715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:70926715C>T	ENST00000357250.6	-	38	2809	c.2651G>A	c.(2650-2652)gGa>gAa	p.G884E	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.G641E|COL9A1_ENST00000370499.4_Missense_Mutation_p.G641E	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	884	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCAGGAATTCCTGCCACCCC	0.607000													28	25					0	0	0.009535	0	0
SPEN	23013	broad.mit.edu	37	1	16255291	16255291	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:16255291G>A	ENST00000375759.3	+	11	2760	c.2556G>A	c.(2554-2556)agG>agA	p.R852R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	852					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAAGCCCAGGAGTTGTAATA	0.473000													32	10					0	0	0.010818	0	0
CACNA1A	773	broad.mit.edu	37	19	13476203	13476203	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:13476203G>T	ENST00000360228.5	-	5	711	c.712C>A	c.(712-714)Ctt>Att	p.L238I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L238I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	238					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCAAAAATAAGGATTGCAAAA	0.453000													46	41					5.48756e-27	7.37906e-27	0.011902	1	0
CCDC36	339834	broad.mit.edu	37	3	49294324	49294324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49294324C>T	ENST00000438782.1	+	8	1630	c.1394C>T	c.(1393-1395)cCa>cTa	p.P465L	CCDC36_ENST00000296449.5_Missense_Mutation_p.P465L|CCDC36_ENST00000452691.2_Missense_Mutation_p.P465L			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	465										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AAACAAATCCCAATCCAGACC	0.542000													52	34					0	0	0.014410	0	0
LRTM1	57408	broad.mit.edu	37	3	54958972	54958972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:54958972G>A	ENST00000273286.5	-	2	440	c.278C>T	c.(277-279)gCt>gTt	p.A93V	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.A17V	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	93						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CCCATGGAAAGCTCCAGGGGC	0.468000													15	7					0	0	0.003163	0	0
SPRED1	161742	broad.mit.edu	37	15	38641715	38641715	+	Silent	SNP	C	C	T	rs144764225	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:38641715C>T	ENST00000299084.4	+	6	1535	c.675C>T	c.(673-675)tcC>tcT	p.S225S		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	225					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GCCTAAAGTCCCAAAATAGGG	0.348000									Legius syndrome				6	2					0	0	0.001168	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241932	87241932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:87241932C>T	ENST00000297524.3	-	1	678	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	SLC7A13_ENST00000419776.2_Missense_Mutation_p.R192Q|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	192						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTCTGAAATCGTTCTACATT	0.413000													38	12					0	0	0.006230	0	0
DCAF5	8816	broad.mit.edu	37	14	69520769	69520769	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:69520769G>A	ENST00000341516.5	-	9	2781	c.2634C>T	c.(2632-2634)ctC>ctT	p.L878L	DCAF5_ENST00000556847.1_Silent_p.L796L|DCAF5_ENST00000554215.1_Silent_p.L796L|DCAF5_ENST00000557386.1_Silent_p.L877L	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	878						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CTTTGTGTAGGAGTGTCCCTG	0.562000													6	42					0	0	0.001168	0	0
DDX4	54514	broad.mit.edu	37	5	55081595	55081595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:55081595G>A	ENST00000505374.1	+	13	852	c.760G>A	c.(760-762)Gat>Aat	p.D254N	DDX4_ENST00000354991.5_Missense_Mutation_p.D220N|DDX4_ENST00000511853.1_Missense_Mutation_p.D105N|DDX4_ENST00000353507.5_Missense_Mutation_p.D220N|DDX4_ENST00000514278.2_Missense_Mutation_p.D234N	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	254					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TCCACCTGAGGATGAGGACTC	0.398000													17	15					0	0	0.006122	0	0
PEG3	5178	broad.mit.edu	37	19	57329128	57329128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:57329128G>A	ENST00000326441.9	-	9	1211	c.848C>T	c.(847-849)cCa>cTa	p.P283L	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.P157L|PEG3_ENST00000423103.2_Missense_Mutation_p.P283L|PEG3_ENST00000598410.1_Missense_Mutation_p.P159L|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	283					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACTGGTGCTTGGGTAGGCACT	0.512000													20	22					0	0	0.002780	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54920357	54920357	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:54920357C>T	ENST00000293373.6	+	21	2281	c.2202C>T	c.(2200-2202)atC>atT	p.I734I	NCKAP1L_ENST00000545638.2_Silent_p.I684I	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	734					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCCAGGAGATCGTACGGCCTT	0.448000													8	38					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179418818	179418818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179418818C>T	ENST00000589042.1	-	333	89244	c.89020G>A	c.(89020-89022)Gac>Aac	p.D29674N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D20609N|TTN_ENST00000359218.5_Missense_Mutation_p.D20734N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D20801N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27106N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D28033N|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28033	Fibronectin type-III 116.						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)			CTCTTCTTGTCTCGTTTTTCA	0.403000													23	59					0	0	0.003954	0	0
FXR1	8087	broad.mit.edu	37	3	180680855	180680855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:180680855G>A	ENST00000357559.4	+	13	1559	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E	FXR1_ENST00000468861.1_Missense_Mutation_p.G307E|FXR1_ENST00000445140.2_Missense_Mutation_p.G392E|FXR1_ENST00000305586.7_Missense_Mutation_p.G307E|FXR1_ENST00000491062.1_Missense_Mutation_p.G343E|FXR1_ENST00000480918.1_Missense_Mutation_p.G379E	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	392					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGTCGTCGGGGACCTAATTAC	0.368000													20	46					0	0	0.014323	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683037	50683037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:50683037C>T	ENST00000008391.3	+	2	476	c.248C>T	c.(247-249)cCg>cTg	p.P83L		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	83							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CACAGCCACCCGGCCGTCACC	0.592000													37	43					0	0	0.003271	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473085	22473085	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:22473085C>T	ENST00000557788.2	-	0	185																											CCAGCCCCTTCCCTGGGGGCT	0.572000													22	82					0	0	0.014323	0	0
CD6	923	broad.mit.edu	37	11	60783189	60783189	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:60783189C>T	ENST00000313421.7	+	9	1578	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	CD6_ENST00000452451.2_Intron|CD6_ENST00000344028.5_Silent_p.F432F|CD6_ENST00000352009.5_Silent_p.F432F|CD6_ENST00000346437.4_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	464				VFMLPI -> GPGPAP (in Ref. 3; CAA43306).	cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CCCCAGTTTTCATGCTGCCCA	0.597000													45	35					0	0	0.014410	0	0
MTTP	4547	broad.mit.edu	37	4	100534068	100534068	+	Splice_Site	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:100534068A>C	ENST00000457717.1	+	16	2245		c.e16-1		MTTP_ENST00000511045.1_Splice_Site|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Splice_Site	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein						lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GATTTTATCCAGGTGGTTATT	0.498000													41	50					0	0	0.008740	0	0
RCN3	57333	broad.mit.edu	37	19	50045834	50045834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50045834G>A	ENST00000270645.3	+	6	1151	c.704G>A	c.(703-705)gGg>gAg	p.G235E		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	235	EF-hand 4.					endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GCCGAGCCTGGGGAGGAGGAG	0.672000													7	12					0	0	0.004482	0	0
SMOC1	64093	broad.mit.edu	37	14	70442531	70442531	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:70442531G>A	ENST00000381280.4	+	4	731	c.478_splice	c.e4+1	p.G160_splice	SMOC1_ENST00000361956.3_Splice_Site_p.G160_splice	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	160					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TGTATGTTCAGGTACCGTAGG	0.532000													19	22					0	0	0.010504	0	0
XIRP2	129446	broad.mit.edu	37	2	168074800	168074800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:168074800G>A	ENST00000409195.1	+	5	937	c.848G>A	c.(847-849)aGa>aAa	p.R283K	XIRP2_ENST00000409273.1_Missense_Mutation_p.R61K|XIRP2_ENST00000295237.9_Missense_Mutation_p.R283K|XIRP2_ENST00000409043.1_Missense_Mutation_p.R283K|XIRP2_ENST00000409756.2_Missense_Mutation_p.R283K|XIRP2_ENST00000409728.1_Missense_Mutation_p.R316K|XIRP2_ENST00000409605.1_Missense_Mutation_p.R61K|XIRP2_ENST00000420519.1_Missense_Mutation_p.R316K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	108					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						CATCAGAACAGATCTGAGCAG	0.408000													18	12					0	0	0.006122	0	0
PARD6G	84552	broad.mit.edu	37	18	77918229	77918229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:77918229C>T	ENST00000353265.3	-	3	753	c.556G>A	c.(556-558)Ggg>Agg	p.G186R	AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000589574.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	186	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TTCTCCAGCCCGTGCGGGGTC	0.706000													8	26					0	0	0.004482	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627778	43627778	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:43627778G>A	ENST00000332857.6	-	4	937	c.909C>T	c.(907-909)tcC>tcT	p.S303S	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GTGGGTGGCGGGAAAGAGGAT	0.542000													83	171					0	0	0.014410	0	0
ZNF845	91664	broad.mit.edu	37	19	53854397	53854397	+	Missense_Mutation	SNP	G	G	A	rs10415799	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:53854397G>A	ENST00000458035.1	+	4	586	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	ZNF845_ENST00000595091.1_Missense_Mutation_p.E157K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E157Q(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAGACCGAAGGGAAAAT	0.408000													41	48					0	0	0.014410	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158584	102158584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:102158584G>A	ENST00000299314.7	-	13	2373	c.2111C>T	c.(2110-2112)cCa>cTa	p.P704L		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	704					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GGCGTCTTTTGGAAGGAGTGA	0.423000													18	33					0	0	0.012319	0	0
ATP13A5	344905	broad.mit.edu	37	3	193031933	193031933	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:193031933G>A	ENST00000342358.4	-	19	2325	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	736					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGCCTGGAGGGATCATTTCAG	0.473000													5	29					0	0	0.000602	0	0
MYCN	4613	broad.mit.edu	37	2	16082277	16082277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:16082277G>A	ENST00000281043.3	+	2	388	c.91G>A	c.(91-93)Gac>Aac	p.D31N	MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	31					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CTTCTACCCGGACGAAGATGA	0.642000			A		neuroblastoma								17	23					0	0	0.004990	0	0
MYOT	9499	broad.mit.edu	37	5	137221830	137221830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:137221830C>T	ENST00000239926.4	+	8	1492	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.S258L|MYOT_ENST00000421631.2_Missense_Mutation_p.S189L	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	373	Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCCAGATCTCGGCTATACCT	0.348000													43	36					0	0	0.013114	0	0
SRCAP	10847	broad.mit.edu	37	16	30740785	30740785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:30740785C>T	ENST00000262518.4	+	27	6404	c.6019C>T	c.(6019-6021)Cag>Tag	p.Q2007*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.Q1945*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.Q1849*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2007					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCAGCCTTCCAGGAGCAATT	0.592000													32	46					0	0	0.003755	0	0
BPIFC	254240	broad.mit.edu	37	22	32828360	32828360	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:32828360G>A	ENST00000397452.1	-	11	1259	c.1149_splice	c.e11+1	p.F383_splice	BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000534972.1_Splice_Site_p.F107_splice|BPIFC_ENST00000300399.3_Splice_Site_p.F383_splice			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	383						extracellular region	lipopolysaccharide binding|phospholipid binding										CCAGACTTACGAAGTCCATGG	0.517000													30	35					0	0	0.009535	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505206	37505206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:37505206G>A	ENST00000374660.1	+	38	3255	c.3156G>A	c.(3154-3156)atG>atA	p.M1052I	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.M933I|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.M933I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1055						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						CAGGAAAAATGGAACAAATGA	0.333000													5	3					0	0	0.001168	0	0
NPDC1	56654	broad.mit.edu	37	9	139937428	139937428	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:139937428G>A	ENST00000371600.3	-	1	1116	c.444C>T	c.(442-444)ttC>ttT	p.F148F	NPDC1_ENST00000488145.1_5'UTR|NPDC1_ENST00000371601.4_Silent_p.F70F			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	70	Pro/Ser/Thr-rich.					integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GGTCCTCCTGGAAGGGCTGAA	0.652000													13	18					0	0	0.013537	0	0
LRP5	4041	broad.mit.edu	37	11	68181200	68181200	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:68181200C>T	ENST00000294304.7	+	12	2653	c.2547C>T	c.(2545-2547)ttC>ttT	p.F849F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	849	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGCACCCGTTCGGTCTGACGC	0.602000													25	30					0	0	0.008361	0	0
MUC17	140453	broad.mit.edu	37	7	100686139	100686139	+	Silent	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:100686139T>A	ENST00000306151.4	+	3	11506	c.11442T>A	c.(11440-11442)acT>acA	p.T3814T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3814	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)					AAAGAAGCACTTTATTGACAA	0.488000													14	15					0	0	0.001855	0	0
LHFP	10186	broad.mit.edu	37	13	39918104	39918104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:39918104G>A	ENST00000379589.3	-	4	1034	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	191						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TTTCTTGCCCGAAAAGCAAGC	0.557000			T	HMGA2	lipoma								51	64					0	0	0.014410	0	0
PDIA5	10954	broad.mit.edu	37	3	122808015	122808015	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:122808015G>A	ENST00000316218.7	+	2	138	c.42_splice	c.e2-1	p.V15_splice		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	15					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGATCCCCAGGTGGTCCTGCC	0.537000													25	17					0	0	0.005443	0	0
MYO18B	84700	broad.mit.edu	37	22	26228957	26228957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:26228957C>T	ENST00000335473.7	+	16	3303	c.3053C>T	c.(3052-3054)cCc>cTc	p.P1018L	MYO18B_ENST00000407587.2_Missense_Mutation_p.P1018L|MYO18B_ENST00000536101.1_Missense_Mutation_p.P1018L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GATCAAAATCCCTCTCAGGTA	0.498000													30	35					0	0	0.013726	0	0
MYH14	79784	broad.mit.edu	37	19	50760601	50760601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50760601G>A	ENST00000440075.2	+	18	2137	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D	MYH14_ENST00000601313.1_Missense_Mutation_p.G697D|MYH14_ENST00000376970.2_Missense_Mutation_p.G689D|MYH14_ENST00000598205.1_Missense_Mutation_p.G664D|MYH14_ENST00000262269.8_Missense_Mutation_p.G697D|MYH14_ENST00000425460.1_Missense_Mutation_p.G664D|MYH14_ENST00000596571.1_Missense_Mutation_p.G656D			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	656	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGGGCGACGGCCCACCAGGT	0.622000													8	12					0	0	0.004482	0	0
TUB	7275	broad.mit.edu	37	11	8123035	8123035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:8123035G>A	ENST00000305253.4	+	13	1796	c.1555G>A	c.(1555-1557)Gac>Aac	p.D519N	TUB_ENST00000534099.1_Missense_Mutation_p.D470N|TUB_ENST00000299506.2_Missense_Mutation_p.D464N	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	464					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGCCCCAGCGGACTACATCGT	0.547000													67	33					0	0	0.014410	0	0
DMRT1	1761	broad.mit.edu	37	9	916865	916865	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:916865A>C	ENST00000382276.3	+	4	1074	c.925A>C	c.(925-927)Act>Cct	p.T309P	DMRT1_ENST00000569227.1_Missense_Mutation_p.T151P	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	309					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CCAGTTCTTCACTTTTGAGGA	0.552000													6	20					0	0	0.001984	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815644	179815644	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:179815644G>A	ENST00000367612.3	-	6	1362	c.975C>T	c.(973-975)gtC>gtT	p.V325V		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	325						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GAATGGGAGAGACTTTCTGGG	0.547000													62	20					0	0	0.014410	0	0
C1orf177	163747	broad.mit.edu	37	1	55277554	55277554	+	Missense_Mutation	SNP	G	G	A	rs139677684		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:55277554G>A	ENST00000358193.3	+	5	622	c.568G>A	c.(568-570)Gag>Aag	p.E190K	C1orf177_ENST00000371273.3_Missense_Mutation_p.E190K	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	190										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GTCTCATTCCGAGGGCCTCAT	0.617000													25	8					0	0	0.006320	0	0
PML	5371	broad.mit.edu	37	15	74327537	74327537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:74327537G>A	ENST00000268059.6	+	8	1831	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Missense_Mutation_p.E531K|PML_ENST00000563500.1_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000569477.1_Missense_Mutation_p.R592Q|PML_ENST00000564428.1_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	579					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGAGACCGCCGAGCCACAGTC	0.617000			T	"""RARA, PAX5"""	"""APL, ALL"""								157	9					0	0	0.014410	0	0
ZNF768	79724	broad.mit.edu	37	16	30537211	30537211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:30537211G>A	ENST00000380412.5	-	2	425	c.250C>T	c.(250-252)Ccg>Tcg	p.P84S	ZNF768_ENST00000562803.1_Missense_Mutation_p.P53S	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	84	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCAAACCCCGGGCTTTCAGGC	0.557000													28	28					0	0	0.006320	0	0
TG	7038	broad.mit.edu	37	8	134108474	134108474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:134108474C>T	ENST00000220616.4	+	43	7469	c.7429C>T	c.(7429-7431)Cac>Tac	p.H2477Y	SLA_ENST00000517648.1_Intron|TG_ENST00000519543.1_Missense_Mutation_p.H610Y|SLA_ENST00000395352.3_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000518565.1_Intron|SLA_ENST00000524345.1_Intron|TG_ENST00000377869.1_Missense_Mutation_p.H2420Y|TG_ENST00000542445.1_Missense_Mutation_p.H847Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2477					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGCCCTTTCCACTACTGGGG	0.512000													31	75					0	0	0.004289	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580900	140580900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140580900C>T	ENST00000354757.3	+	1	1553	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S153L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		518	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.677000													51	53					0	0	0.014410	0	0
AOX1	316	broad.mit.edu	37	2	201485964	201485964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:201485964G>A	ENST00000374700.2	+	18	2237	c.1996G>A	c.(1996-1998)Gat>Aat	p.D666N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	666					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCTGGCGACAGATAAGGTACT	0.398000													16	42					0	0	0.010504	0	0
RCVRN	5957	broad.mit.edu	37	17	9808472	9808472	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:9808472A>C	ENST00000226193.5	-	1	466	c.26T>G	c.(25-27)cTg>cGg	p.L9R		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	9					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CTCCTTGGACAGGGCCCCACT	0.642000													3	10					0	0	0.004672	0	0
DRD2	1813	broad.mit.edu	37	11	113281576	113281576	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:113281576T>C	ENST00000362072.3	-	8	1549	c.1205A>G	c.(1204-1206)aAc>aGc	p.N402S	RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000544518.1_Missense_Mutation_p.N401S|DRD2_ENST00000542968.1_Missense_Mutation_p.N402S|DRD2_ENST00000355319.2_Missense_Mutation_p.N404S|DRD2_ENST00000346454.3_Missense_Mutation_p.N373S|DRD2_ENST00000538967.1_Missense_Mutation_p.N404S	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	402					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	AGGCGGGATGTTGCAGTCACA	0.567000													26	28					0	0	0.010818	0	0
TBL2	26608	broad.mit.edu	37	7	72985160	72985160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:72985160G>A	ENST00000305632.5	-	7	1262	c.1021C>T	c.(1021-1023)Ccc>Tcc	p.P341S	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.P305S	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	341										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGGCGTTGGGGGAGAGGGCC	0.617000													39	44					0	0	0.006999	0	0
ARNTL2	56938	broad.mit.edu	37	12	27554207	27554207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:27554207G>A	ENST00000544915.1	+	10	1295	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	ARNTL2_ENST00000395901.2_Missense_Mutation_p.G356E|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000261178.5_Missense_Mutation_p.G345E|ARNTL2_ENST00000542388.1_Missense_Mutation_p.G308E|ARNTL2_ENST00000311001.5_Missense_Mutation_p.G379E|ARNTL2_ENST00000546179.1_Missense_Mutation_p.G356E|ARNTL2_ENST00000266503.5_Missense_Mutation_p.G393E	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	393	PAS 2.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GCGATTTTAGGATATCTGCCT	0.408000													10	32					0	0	0.008291	0	0
SH2D4B	387694	broad.mit.edu	37	10	82369257	82369257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:82369257G>A	ENST00000339284.2	+	6	1365	c.935G>A	c.(934-936)cGc>cAc	p.R312H	SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000470604.2_Missense_Mutation_p.R311H|SH2D4B_ENST00000313455.4_Missense_Mutation_p.R264H	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	311										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CAGCTGCCTCGCCGAGCTGGC	0.582000													19	58					0	0	0.010504	0	0
SCRN2	90507	broad.mit.edu	37	17	45915737	45915737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:45915737C>T	ENST00000407215.3	-	7	1099	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	SCRN2_ENST00000584123.1_Missense_Mutation_p.D348N|SCRN2_ENST00000290216.9_Missense_Mutation_p.D340N			Q96FV2	SCRN2_HUMAN	secernin 2	340					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CGAACAGGGTCTTGTGCTCCA	0.602000													54	56					0	0	0.014410	0	0
GJA3	2700	broad.mit.edu	37	13	20716975	20716975	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:20716975G>A	ENST00000241125.3	-	2	629	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	151					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGATGATGTTGAAGACGTAGG	0.657000													9	13					0	0	0.004482	0	0
BAG2	9532	broad.mit.edu	37	6	57048591	57048591	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:57048591T>G	ENST00000370693.5	+	3	611	c.239T>G	c.(238-240)tTa>tGa	p.L80*	BAG2_ENST00000545080.1_Nonsense_Mutation_p.L47*	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	80					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)			AGAGAAGAATTAAATCTGACT	0.353000													22	27					0	0	0.007291	0	0
PPFIA1	8500	broad.mit.edu	37	11	70185380	70185380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:70185380C>T	ENST00000253925.7	+	14	1890	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W	PPFIA1_ENST00000389547.3_Missense_Mutation_p.R559W|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	559					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ACAGAAAGGCCGGCTGGCAGC	0.567000													21	25					0	0	0.010504	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940268	67940268	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:67940268A>G	ENST00000357461.2	-	3	782	c.373T>C	c.(373-375)Ttc>Ctc	p.F125L	TMEM229B_ENST00000557006.1_Missense_Mutation_p.F125L	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	125						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCCCGCAGAACCAGGGCACG	0.647000													9	8					0	0	0.004482	0	0
FRMPD2	143162	broad.mit.edu	37	10	49386146	49386146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:49386146C>T	ENST00000374201.3	-	22	3141	c.2839G>A	c.(2839-2841)Gaa>Aaa	p.E947K	FRMPD2_ENST00000305531.3_Missense_Mutation_p.E922K|FRMPD2_ENST00000407470.4_Missense_Mutation_p.E915K|FRMPD2_ENST00000463706.1_5'UTR	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	947					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)		AAGTAGATTTCACCAGCACTG	0.408000													22	27					0	0	0.007291	0	0
CCDC134	79879	broad.mit.edu	37	22	42209274	42209274	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:42209274C>A	ENST00000255784.5	+	5	421	c.317C>A	c.(316-318)tCc>tAc	p.S106Y	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	106						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CCAGCTTTCTCCCACGTGGTG	0.582000													32	51					2.75727e-19	3.69894e-19	0.004878	1	0
FOXN1	8456	broad.mit.edu	37	17	26854296	26854296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:26854296G>A	ENST00000226247.2	+	3	645	c.616G>A	c.(616-618)Gtt>Att	p.V206I	FOXN1_ENST00000579795.1_Missense_Mutation_p.V206I	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	206					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CAAGCCCCCAGTTCTGGAGAG	0.537000													16	5					0	0	0.008871	0	0
CD22	933	broad.mit.edu	37	19	35832663	35832663	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:35832663G>A	ENST00000085219.5	+	9	1896	c.1830G>A	c.(1828-1830)aaG>aaA	p.K610K	CD22_ENST00000270311.6_Silent_p.K490K|CD22_ENST00000419549.2_Silent_p.K438K|CD22_ENST00000594250.1_Silent_p.K433K|CD22_ENST00000544992.2_Silent_p.K610K|CD22_ENST00000341773.6_Silent_p.K433K|CD22_ENST00000536635.2_Silent_p.K522K	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	610	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TGGAGGGGAAGAGTGCAACCC	0.622000													14	15					0	0	0.001855	0	0
ZNF789	285989	broad.mit.edu	37	7	99084289	99084289	+	Silent	SNP	G	G	A	rs139820028		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:99084289G>A	ENST00000331410.5	+	5	726	c.456G>A	c.(454-456)agG>agA	p.R152R	ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AATACAGCAGGGGCTTCCTTC	0.413000													22	44					0	0	0.002780	0	0
IRAK1BP1	134728	broad.mit.edu	37	6	79607566	79607566	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:79607566A>G	ENST00000369940.2	+	3	507	c.402A>G	c.(400-402)gaA>gaG	p.E134E	IRAK1BP1_ENST00000607739.1_Silent_p.E47E	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	134					I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		CATTTACTGAATTTGGAAAAA	0.333000													11	11					0	0	0.008291	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182658	140182658	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140182658C>T	ENST00000522353.2	+	1	1876	c.1876C>T	c.(1876-1878)Ctg>Ttg	p.L626L	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.L626L|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGTGGGGCTGTACACGGG	0.652000													21	22					0	0	0.012319	0	0
NLK	51701	broad.mit.edu	37	17	26490649	26490649	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:26490649C>T	ENST00000407008.3	+	5	1550	c.832C>T	c.(832-834)Cta>Tta	p.L278L		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	278	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CAACTGTGTTCTAAAGGTAGC	0.348000													3	9					0	0	0.004672	0	0
PAX3	5077	broad.mit.edu	37	2	223161887	223161887	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:223161887A>G	ENST00000350526.4	-	2	267	c.131T>C	c.(130-132)gTt>gCt	p.V44A	PAX3_ENST00000258387.5_Missense_Mutation_p.V44A|PAX3_ENST00000409828.3_Missense_Mutation_p.V44A|PAX3_ENST00000344493.4_Missense_Mutation_p.V44A|PAX3_ENST00000409551.3_Missense_Mutation_p.V44A|PAX3_ENST00000336840.6_Missense_Mutation_p.V44A|PAX3_ENST00000392070.2_Missense_Mutation_p.V44A|PAX3_ENST00000392069.2_Missense_Mutation_p.V44A	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	44	Paired.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTGATAAAAACACCGCCGAG	0.597000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						5	2					0	0	0.001168	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803523	142803523	+	RNA	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:142803523C>A	ENST00000423385.1	-	0	1442																											TTACCTTTTTCTTTAATAGAT	0.274000													7	53					0.00198382	0.0026173	0.001984	1	0
TTN	7273	broad.mit.edu	37	2	179665387	179665387	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179665387G>A	ENST00000589042.1	-	4	542	c.318C>T	c.(316-318)ttC>ttT	p.F106F	TTN_ENST00000460472.2_Silent_p.F106F|TTN_ENST00000359218.5_Silent_p.F106F|TTN_ENST00000342175.6_Silent_p.F106F|TTN_ENST00000360870.5_Silent_p.F106F|TTN_ENST00000342992.6_Silent_p.F106F|TTN_ENST00000591111.1_Silent_p.F106F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	106	Ig-like 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F106F(4)		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)			GTCGTTGAACGAAGTTGGGTG	0.512000													8	24					0	0	0.006214	0	0
TRAV12-2	28673	broad.mit.edu	37	14	22356098	22356098	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:22356098G>A	ENST00000390437.2	+	0	62																											ATTTTTTAAGGGTTTAAAATT	0.343000													8	4					0	0	0.003080	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69100292	69100292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:69100292G>A	ENST00000332644.5	-	5	519	c.358C>T	c.(358-360)Cct>Tct	p.P120S		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	120	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						TCTGCTGGAGGAAACTTGAAT	0.383000													16	5					0	0	0.003163	0	0
RIN2	54453	broad.mit.edu	37	20	19981314	19981314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:19981314C>T	ENST00000255006.6	+	12	2718	c.2569C>T	c.(2569-2571)Ctt>Ttt	p.L857F	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.L375F	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	808	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AAAGACCCTCCTTGTGAGACC	0.498000													55	75					0	0	0.014410	0	0
NEB	4703	broad.mit.edu	37	2	152528985	152528985	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:152528985G>A	ENST00000427231.2	-	37	4399	c.4197C>T	c.(4195-4197)gtC>gtT	p.V1399V	NEB_ENST00000172853.10_Silent_p.V1399V|NEB_ENST00000604864.1_Silent_p.V1399V|NEB_ENST00000409198.1_Silent_p.V1399V|NEB_ENST00000397345.3_Silent_p.V1399V|NEB_ENST00000603639.1_Silent_p.V1399V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1399					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTGGTAGCGACATCCTGGG	0.458000													11	33					0	0	0.013537	0	0
MEX3B	84206	broad.mit.edu	37	15	82335561	82335561	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:82335561G>A	ENST00000329713.4	-	2	2085	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	550					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ACTCGGGCTCGCTCTTCTCAC	0.627000													25	23					0	0	0.003954	0	0
LRRC47	57470	broad.mit.edu	37	1	3698136	3698136	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:3698136C>T	ENST00000378251.1	-	6	1470	c.1443G>A	c.(1441-1443)ttG>ttA	p.L481L		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	481					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TTGTTACTTCCAAAAACAAAT	0.408000													4	15					0	0	0.000602	0	0
SRPK1	6732	broad.mit.edu	37	6	35836854	35836854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:35836854G>A	ENST00000373825.2	-	12	1730	c.1445C>T	c.(1444-1446)cCc>cTc	p.P482L	SRPK1_ENST00000423325.2_Missense_Mutation_p.P466L|SRPK1_ENST00000373822.1_Missense_Mutation_p.P375L			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	482	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TGGCTCAAGGGGATTAACAAG	0.383000													6	16					0	0	0.001168	0	0
EPHA1	2041	broad.mit.edu	37	7	143090820	143090820	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:143090820C>T	ENST00000275815.3	-	16	2726	c.2640G>A	c.(2638-2640)ctG>ctA	p.L880L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	880	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCAGTTGCTCCAGATGTGCCT	0.597000													25	28					0	0	0.005443	0	0
KIAA1109	84162	broad.mit.edu	37	4	123202788	123202788	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:123202788C>A	ENST00000264501.4	+	52	9269	c.8896C>A	c.(8896-8898)Cag>Aag	p.Q2966K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.Q2966K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Q2966K			Q2LD37	K1109_HUMAN	KIAA1109	2966					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGAATTTCCTCAGCTACCAGA	0.403000													47	30					4.10826e-27	5.52619e-27	0.014410	1	0
GABRB1	2560	broad.mit.edu	37	4	47427953	47427953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:47427953C>T	ENST00000295454.3	+	9	1635	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	GABRB1_ENST00000538619.1_Missense_Mutation_p.S378F	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	448					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			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)	GATGTGAATTCCATAGACAAG	0.527000													20	58					0	0	0.002780	0	0
CAB39L	81617	broad.mit.edu	37	13	49906097	49906097	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:49906097A>G	ENST00000355854.4	-	8	1317	c.820T>C	c.(820-822)Ttt>Ctt	p.F274L	CAB39L_ENST00000409130.1_Missense_Mutation_p.F130L|CAB39L_ENST00000347776.5_Missense_Mutation_p.F274L|CAB39L_ENST00000410043.1_Missense_Mutation_p.F274L|CAB39L_ENST00000409308.1_Missense_Mutation_p.F274L	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	274					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AAAACATGAAAGGCTTCAAAC	0.403000													38	67					0	0	0.008740	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570508	47570508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:47570508G>A	ENST00000253048.5	-	15	3054	c.3017C>T	c.(3016-3018)cCc>cTc	p.P1006L	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1006							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GTCCAGGGTGGGCATGGATTG	0.736000													28	30					0	0	0.007291	0	0
GDF2	2658	broad.mit.edu	37	10	48414276	48414276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:48414276G>A	ENST00000249598.1	-	2	751	c.592C>T	c.(592-594)Cag>Tag	p.Q198*		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	198					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCCTCATCCTGAATGTCCTGG	0.537000													26	22					0	0	0.003330	0	0
ATAD3B	83858	broad.mit.edu	37	1	1431175	1431175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:1431175C>T	ENST00000308647.7	+	16	2041	c.1925C>T	c.(1924-1926)cCc>cTc	p.P642L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	642							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCGTTCTGCCCCCCAGGGCAC	0.642000													18	3					0	0	0.006122	0	0
DZIP1L	199221	broad.mit.edu	37	3	137822681	137822681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:137822681G>A	ENST00000327532.2	-	2	495	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	DZIP1L_ENST00000469243.1_Missense_Mutation_p.R45C	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	45						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CGGGCCACGCGGTCTACATCC	0.602000													94	65					0	0	0.014410	0	0
S1PR4	8698	broad.mit.edu	37	19	3179084	3179084	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:3179084C>T	ENST00000246115.3	+	1	349	c.294C>T	c.(292-294)gcC>gcT	p.A98A	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	98					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CGGGCGCGGCCTACCTGGCCA	0.687000													17	19					0	0	0.004007	0	0
QSOX1	5768	broad.mit.edu	37	1	180159638	180159638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:180159638C>T	ENST00000367602.3	+	10	1285	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	QSOX1_ENST00000367600.5_Missense_Mutation_p.P404L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	404	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGGGGCTTTCCCTGCTCCCTG	0.577000													63	15					0	0	0.014410	0	0
NR2F2	7026	broad.mit.edu	37	15	96880663	96880663	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:96880663T>C	ENST00000394166.3	+	3	2446	c.1057T>C	c.(1057-1059)Tac>Cac	p.Y353H	NR2F2_ENST00000453270.2_Missense_Mutation_p.Y200H|NR2F2_ENST00000394171.2_Missense_Mutation_p.Y200H|NR2F2_ENST00000421109.2_Missense_Mutation_p.Y220H	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	353	Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TAGGAGCCAGTACCCCAACCA	0.502000													35	56					0	0	0.004289	0	0
KIF26B	55083	broad.mit.edu	37	1	245848728	245848728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:245848728G>A	ENST00000366518.4	+	9	1404	c.1300G>A	c.(1300-1302)Ggg>Agg	p.G434R	KIF26B_ENST00000407071.2_Missense_Mutation_p.G815R			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	815					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G815R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTCGTCCGGCGGGGAGAGCTC	0.647000													12	4					0	0	0.002450	0	0
NUMBL	9253	broad.mit.edu	37	19	41179335	41179335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41179335G>A	ENST00000252891.4	-	8	1117	c.950C>T	c.(949-951)tCg>tTg	p.S317L	NUMBL_ENST00000598779.1_Missense_Mutation_p.S276L|NUMBL_ENST00000540131.1_Missense_Mutation_p.S276L	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	317					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TTTGAAAGGCGAGTTCTTCTG	0.667000													4	10					0	0	0.009096	0	0
TAF2	6873	broad.mit.edu	37	8	120759033	120759033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:120759033G>A	ENST00000378164.2	-	23	3318	c.3020C>T	c.(3019-3021)cCt>cTt	p.P1007L		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1007					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATTATGGTAGGATTCAAGAC	0.433000													63	31					0	0	0.014410	0	0
C3	718	broad.mit.edu	37	19	6696607	6696607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:6696607G>A	ENST00000245907.6	-	22	2952	c.2860C>T	c.(2860-2862)Cgt>Tgt	p.R954C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	954		Cleavage; by factor I (Potential).			complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling 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)		GACTCACCACGGCCCAGGCGT	0.602000													66	105					0	0	0.014410	0	0
GDA	9615	broad.mit.edu	37	9	74856136	74856136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:74856136C>T	ENST00000358399.3	+	11	1150	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	GDA_ENST00000376989.3_Missense_Mutation_p.L292F|GDA_ENST00000545168.1_Missense_Mutation_p.L279F|GDA_ENST00000376986.1_Missense_Mutation_p.L275F|GDA_ENST00000238018.4_Missense_Mutation_p.L353F	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	353					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TTCCAATATCCTTTTAATTAA	0.383000													14	19					0	0	0.002450	0	0
WDR59	79726	broad.mit.edu	37	16	74972116	74972116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:74972116G>A	ENST00000262144.6	-	8	713	c.583C>T	c.(583-585)Cat>Tat	p.H195Y		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	195										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TCCAGGCCATGGATTTTGGAG	0.498000													40	4					0	0	0.008740	0	0
CGNL1	84952	broad.mit.edu	37	15	57835965	57835965	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:57835965C>T	ENST00000281282.5	+	15	3441	c.3363C>T	c.(3361-3363)tcC>tcT	p.S1121S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1121						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)		ACAAGATTTCCCTGGAGAGGC	0.567000													27	1					0	0	0.007291	0	0
TRIM55	84675	broad.mit.edu	37	8	67064807	67064807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:67064807C>T	ENST00000315962.4	+	8	1554	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Missense_Mutation_p.S394F|TRIM55_ENST00000276573.7_Missense_Mutation_p.S394F	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	394						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTTCCAGTTTCCTCTCCAGAG	0.562000													13	38					0	0	0.003163	0	0
GRM6	2916	broad.mit.edu	37	5	178413504	178413504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:178413504G>A	ENST00000231188.5	-	8	1929	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L	GRM6_ENST00000517717.1_Missense_Mutation_p.P584L|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	584					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)		GGCTGCCCAGGGGGAGGACCA	0.697000													10	4					0	0	0.006214	0	0
COL25A1	84570	broad.mit.edu	37	4	109783699	109783699	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:109783699C>T	ENST00000399132.1	-	22	1685	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	COL25A1_ENST00000399126.1_Silent_p.G385G|COL25A1_ENST00000399127.1_Intron	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	385	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CACCTTGTTTCCCCTATTACA	0.343000													76	139					0	0	0.014410	0	0
TPR	7175	broad.mit.edu	37	1	186316442	186316442	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:186316442G>A	ENST00000367478.3	-	22	3221	c.2925C>T	c.(2923-2925)tcC>tcT	p.S975S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	975					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.S976S(1)|p.S975S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCTTGTTCAGGGATTCTTCTA	0.343000			T	NTRK1	papillary thyroid								15	67					0	0	0.003163	0	0
TNXB	7148	broad.mit.edu	37	6	32030125	32030125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32030125G>A	ENST00000375244.3	-	20	7178	c.6977C>T	c.(6976-6978)cCc>cTc	p.P2326L	TNXB_ENST00000375247.2_Missense_Mutation_p.P2326L			P22105	TENX_HUMAN	tenascin XB	2388	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTCCCTCGGGAACCGTCCA	0.617000													183	138					0	0	0.014410	0	0
CD36	948	broad.mit.edu	37	7	80299284	80299284	+	Missense_Mutation	SNP	C	C	T	rs145908803	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:80299284C>T	ENST00000435819.1	+	12	1448	c.764C>T	c.(763-765)cCa>cTa	p.P255L	CD36_ENST00000309881.7_Missense_Mutation_p.P255L|CD36_ENST00000534394.1_Missense_Mutation_p.P179L|CD36_ENST00000447544.2_Missense_Mutation_p.P255L|CD36_ENST00000394788.3_Missense_Mutation_p.P255L|CD36_ENST00000538969.1_Missense_Mutation_p.P195L|CD36_ENST00000432207.1_Missense_Mutation_p.P255L|CD36_ENST00000544133.1_Missense_Mutation_p.P255L|CD36_ENST00000433696.2_Intron			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	255					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GCCTCATTTCCACCTTTTGTT	0.388000													36	49					0	0	0.011902	0	0
KCNG2	26251	broad.mit.edu	37	18	77624160	77624160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:77624160G>A	ENST00000316249.3	+	1	493	c.493G>A	c.(493-495)Gac>Aac	p.D165N		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	165					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		gcgccTGCGCGACGTGGTGGA	0.796000													14	8					0	0	0.004007	0	0
ABCB10	23456	broad.mit.edu	37	1	229665973	229665973	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:229665973G>A	ENST00000344517.4	-	8	1660	c.1618C>T	c.(1618-1620)Ctg>Ttg	p.L540L		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	540	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AACCTCAGCAGGAGTGAAAGC	0.542000													18	53					0	0	0.010504	0	0
SIDT1	54847	broad.mit.edu	37	3	113286460	113286460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:113286460C>T	ENST00000264852.4	+	3	1144	c.418C>T	c.(418-420)Ccc>Tcc	p.P140S	SIDT1_ENST00000393830.3_Missense_Mutation_p.P140S	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	140						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGAGACGGGACCCTTGCAGCA	0.493000													25	83					0	0	0.009535	0	0
MYO5B	4645	broad.mit.edu	37	18	47480803	47480803	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:47480803G>A	ENST00000285039.7	-	13	1847	c.1548C>T	c.(1546-1548)gtC>gtT	p.V516V		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	516	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTCCTTTGGGGACCTGCAGAA	0.572000													14	11					0	0	0.003163	0	0
FUBP3	8939	broad.mit.edu	37	9	133498142	133498142	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:133498142G>A	ENST00000319725.9	+	10	894	c.819G>A	c.(817-819)ggG>ggA	p.G273G		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	273	KH 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GAAGAAACGGGGAAATGATCA	0.373000													15	52					0	0	0.006122	0	0
BFSP1	631	broad.mit.edu	37	20	17475348	17475348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:17475348C>T	ENST00000377873.3	-	8	1408	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	BFSP1_ENST00000544874.1_Missense_Mutation_p.E318K|BFSP1_ENST00000377868.2_Missense_Mutation_p.E332K|BFSP1_ENST00000536626.1_Missense_Mutation_p.E318K	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	457	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GTCTCAGGCTCTTTGGGGCTT	0.532000													40	39					0	0	0.010771	0	0
ANK3	288	broad.mit.edu	37	10	61833799	61833799	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:61833799A>C	ENST00000280772.1	-	37	7031	c.6840T>G	c.(6838-6840)ttT>ttG	p.F2280L	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2280					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						GCCCGGACTGAAAGGCCTTCA	0.498000													28	44					0	0	0.004289	0	0
CASR	846	broad.mit.edu	37	3	122003260	122003260	+	Missense_Mutation	SNP	C	C	T	rs104893710		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:122003260C>T	ENST00000498619.1	+	7	2927	c.2489C>T	c.(2488-2490)tCc>tTc	p.S830F	CASR_ENST00000490131.1_Missense_Mutation_p.S820F|CASR_ENST00000296154.5_Missense_Mutation_p.S820F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	820					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTCTGGATCTCCTTCATTCCA	0.517000													13	41					0	0	0.004007	0	0
STRAP	11171	broad.mit.edu	37	12	16052848	16052848	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:16052848G>A	ENST00000419869.2	+	8	1099	c.786G>A	c.(784-786)aaG>aaA	p.K262K	STRAP_ENST00000538352.1_Silent_p.K168K|STRAP_ENST00000025399.6_Silent_p.K275K	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	262					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				AATCCTACAAGGGACACTTTG	0.368000													34	20					0	0	0.006230	0	0
FAM71F1	84691	broad.mit.edu	37	7	128369968	128369968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:128369968C>T	ENST00000315184.5	+	6	919	c.866C>T	c.(865-867)tCc>tTc	p.S289F	FAM71F1_ENST00000485070.1_Missense_Mutation_p.S188F	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	289										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						AAAGATTCTTCCCGTGAAGAC	0.527000													20	28					0	0	0.010504	0	0
RPL10	6134	broad.mit.edu	37	X	153628953	153628953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:153628953C>T	ENST00000424325.2	+	6	666	c.478C>T	c.(478-480)Cct>Tct	p.P160S	RPL10_ENST00000406022.2_Missense_Mutation_p.P109S|RPL10_ENST00000369817.2_Missense_Mutation_p.P160S	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	160					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTTCAAGTTTCCTGGCCGCCA	0.557000													48	2					0	0	0.014410	0	0
AGBL1	123624	broad.mit.edu	37	15	86822874	86822874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:86822874C>T	ENST00000441037.2	+	15	2037	c.1942C>T	c.(1942-1944)Cat>Tat	p.H648Y	AGBL1_ENST00000389298.3_Missense_Mutation_p.H379Y|AGBL1_ENST00000421325.2_Missense_Mutation_p.H648Y	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	648					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						cttTAGAAATCATTATCGCCA	0.498000													22	1					0	0	0.010504	0	0
MKL1	57591	broad.mit.edu	37	22	40820219	40820219	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:40820219G>A	ENST00000396617.3	-	8	1058	c.468C>T	c.(466-468)tcC>tcT	p.S156S	MKL1_ENST00000407029.1_Silent_p.S156S|MKL1_ENST00000402042.1_Silent_p.S156S|MKL1_ENST00000355630.3_Silent_p.S156S			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	156	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CCTGGGTGGGGGATGCAGAGG	0.642000			T	RBM15	acute megakaryocytic leukemia								93	100					0	0	0.014410	0	0
DLGAP1	9229	broad.mit.edu	37	18	3880020	3880020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:3880020C>T	ENST00000315677.3	-	4	644	c.49G>A	c.(49-51)Gac>Aac	p.D17N	DLGAP1_ENST00000581527.1_Missense_Mutation_p.D17N|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D17N|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D17N|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	17					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CAGGCCGAGTCGCAGGTGACC	0.662000													7	17					0	0	0.001984	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603458	48603458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:48603458G>A	ENST00000323776.5	+	14	2290	c.2128G>A	c.(2128-2130)Gaa>Aaa	p.E710K	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E673K	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	673					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GGCCCTCAGGGAATCCGGGTC	0.592000													15	21					0	0	0.002450	0	0
ARNTL2	56938	broad.mit.edu	37	12	27540201	27540201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:27540201G>A	ENST00000544915.1	+	6	722	c.503G>A	c.(502-504)gGa>gAa	p.G168E	ARNTL2_ENST00000395901.2_Missense_Mutation_p.G165E|ARNTL2_ENST00000261178.5_Missense_Mutation_p.G154E|ARNTL2_ENST00000542388.1_Missense_Mutation_p.G117E|ARNTL2_ENST00000311001.5_Missense_Mutation_p.G188E|ARNTL2_ENST00000546179.1_Missense_Mutation_p.G165E|ARNTL2_ENST00000266503.5_Missense_Mutation_p.G202E	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	202					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TGTGAAAGAGGAAAAATTCTC	0.303000													11	38					0	0	0.013537	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208139	140208139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140208139G>A	ENST00000529310.1	+	1	577	c.463G>A	c.(463-465)Gag>Aag	p.E155K	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.E155K	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTCCACTGGAGGGCGCGTC	0.473000													60	54					0	0	0.014410	0	0
FAM47A	158724	broad.mit.edu	37	X	34148258	34148258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:34148258G>A	ENST00000346193.3	-	1	2189	c.2138C>T	c.(2137-2139)cCt>cTt	p.P713L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	713										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTCAATCAAAGGTTCATCACT	0.423000													43	2					0	0	0.009718	0	0
C4orf21	55345	broad.mit.edu	37	4	113539079	113539079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:113539079C>T	ENST00000505019.1	-	6	2244	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	C4orf21_ENST00000445203.2_Missense_Mutation_p.E676K|C4orf21_ENST00000309071.5_Missense_Mutation_p.E707K	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	707										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGAGCATCTTCTGAAAATAGA	0.338000													17	23					0	0	0.004007	0	0
MRC2	9902	broad.mit.edu	37	17	60766290	60766290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:60766290G>A	ENST00000446119.2	+	5	1159	c.140G>A	c.(139-141)aGa>aAa	p.R47K	MRC2_ENST00000580916.1_3'UTR|MRC2_ENST00000303375.5_Silent_p.E1101E			Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1181	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCACGGAGGAGACCCATGGCT	0.662000													11	15					0	0	0.013537	0	0
CNTN3	5067	broad.mit.edu	37	3	74419075	74419075	+	Silent	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:74419075A>T	ENST00000263665.6	-	6	753	c.726T>A	c.(724-726)ggT>ggA	p.G242G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	242	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCACAGTCGAACCTTTAGCTG	0.343000													7	7					0	0	0.008291	0	0
DIP2B	57609	broad.mit.edu	37	12	51069187	51069187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:51069187C>T	ENST00000301180.5	+	7	906	c.872C>T	c.(871-873)cCc>cTc	p.P291L		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	291						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AAAAGGCCTCCCTTAAAGGAA	0.343000													10	26					0	0	0.002450	0	0
LAMC2	3918	broad.mit.edu	37	1	183187526	183187526	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:183187526G>A	ENST00000264144.4	+	4	471	c.404_splice	c.e4-1	p.D136_splice	LAMC2_ENST00000493293.1_Splice_Site_p.D136_splice	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	136			D -> V (in dbSNP:rs12037099).		cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTTCCCCAGAGACTCCAAGTG	0.512000													12	38					0	0	0.001855	0	0
FAM194A	131831	broad.mit.edu	37	3	150391770	150391770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:150391770G>A	ENST00000295910.6	-	11	1368	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L	FAM194A_ENST00000491361.1_Missense_Mutation_p.S293L	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	439										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATCTGGAAATGAAGTCAGAAA	0.348000													10	36					0	0	0.013537	0	0
CMTM7	112616	broad.mit.edu	37	3	32491028	32491028	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:32491028G>T	ENST00000334983.5	+	3	652	c.416G>T	c.(415-417)gGa>gTa	p.G139V	CMTM7_ENST00000349718.4_Intron	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	139	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						AACCAGAGCGGACTGGTAGCC	0.493000													20	43					1.96292e-10	2.61745e-10	0.010504	1	0
VAPA	9218	broad.mit.edu	37	18	9937007	9937007	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:9937007T>G	ENST00000400000.2	+	4	616	c.361T>G	c.(361-363)Tta>Gta	p.L121V	VAPA_ENST00000584796.1_3'UTR|VAPA_ENST00000340541.4_Missense_Mutation_p.L121V	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	121	MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						ACCTGATGAATTAATGGATTC	0.363000													4	11					0	0	0.001168	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950422	123950422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:123950422C>T	ENST00000526639.2	+	2	914	c.335C>T	c.(334-336)gCt>gTt	p.A112V	SNRNP35_ENST00000412157.2_Missense_Mutation_p.A117V|SNRNP35_ENST00000350887.5_Missense_Mutation_p.A112V|SNRNP35_ENST00000527158.2_Intron	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	112	RRM.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TACCGAGATGCTGATGGCCTG	0.542000													20	51					0	0	0.010504	0	0
IGFN1	91156	broad.mit.edu	37	1	201190837	201190837	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:201190837T>C	ENST00000335211.4	+	19	10294	c.10164T>C	c.(10162-10164)agT>agC	p.S3388S	IGFN1_ENST00000295591.8_Silent_p.S548S	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCAGCCCAGTGCCCTGGACA	0.637000													26	13					0	0	0.007291	0	0
XIRP1	165904	broad.mit.edu	37	3	39225636	39225636	+	Silent	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:39225636G>C	ENST00000340369.3	-	2	5529	c.5301C>G	c.(5299-5301)acC>acG	p.T1767T	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Silent_p.T450T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1767	Interaction with FLNC.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTTCAGTCACGGTTCTCATGG	0.592000													27	89					0	0	0.009535	0	0
EEF2K	29904	broad.mit.edu	37	16	22269866	22269866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:22269866C>T	ENST00000263026.5	+	10	1555	c.1081C>T	c.(1081-1083)Caa>Taa	p.Q361*		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	361			Q -> R (in dbSNP:rs4783453).		insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TGGGAGCCCCCAAGTAAGGAC	0.552000													19	36					0	0	0.003954	0	0
KMT2C	58508	broad.mit.edu	37	7	151877025	151877025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:151877025G>A	ENST00000355193.2	-	37	7554	c.7336C>T	c.(7336-7338)Cct>Tct	p.P2446S	KMT2C_ENST00000262189.6_Missense_Mutation_p.P2446S					lysine (K)-specific methyltransferase 2C																		GGGGCAACAGGAGACCTAATG	0.527000													33	42					0	0	0.009535	0	0
PTK2	5747	broad.mit.edu	37	8	141799593	141799593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:141799593G>A	ENST00000522684.1	-	14	1386	c.1157C>T	c.(1156-1158)aCa>aTa	p.T386I	PTK2_ENST00000535192.1_Missense_Mutation_p.T386I|PTK2_ENST00000395218.2_Missense_Mutation_p.T386I|PTK2_ENST00000521059.1_Missense_Mutation_p.T386I|PTK2_ENST00000517887.1_Missense_Mutation_p.T430I|PTK2_ENST00000519419.1_Missense_Mutation_p.T430I|PTK2_ENST00000340930.3_Missense_Mutation_p.T386I|PTK2_ENST00000538769.1_Missense_Mutation_p.T47I	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	386					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GACGGCGTGTGTCCGCATGCC	0.507000													74	69					0	0	0.014410	0	0
IFITM3	10410	broad.mit.edu	37	11	320716	320716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:320716C>T	ENST00000399808.4	-	1	334	c.98G>A	c.(97-99)gGg>gAg	p.G33E	IFITM3_ENST00000602735.1_Missense_Mutation_p.G12E|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.G12E	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	33					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTGGGGCGCCCCCAGCACAGC	0.612000													50	24					0	0	0.014410	0	0
OR51B5	282763	broad.mit.edu	37	11	5364678	5364678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:5364678G>A	ENST00000300773.2	-	1	131	c.77C>T	c.(76-78)tCc>tTc	p.S26F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S26F(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAAATACGGAAATCCAGTG	0.438000													9	15					0	0	0.008291	0	0
OR4K5	79317	broad.mit.edu	37	14	20388947	20388947	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:20388947T>A	ENST00000315915.4	+	1	207	c.182T>A	c.(181-183)tTt>tAt	p.F61Y		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTATGTACTTTCTCTTGGGA	0.413000													38	37					0	0	0.006230	0	0
OTOP2	92736	broad.mit.edu	37	17	72926589	72926589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:72926589G>A	ENST00000331427.4	+	6	951	c.859G>A	c.(859-861)Gag>Aag	p.E287K	OTOP2_ENST00000580223.1_Missense_Mutation_p.E287K	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	287						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCTCTTCCGGGAGACCTTTTT	0.612000													11	78					0	0	0.010729	0	0
DCLK3	85443	broad.mit.edu	37	3	36779344	36779344	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:36779344C>T	ENST00000416516.2	-	2	1297	c.807G>A	c.(805-807)agG>agA	p.R269R		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	269						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CATGTTTGCTCCTGCTCATGG	0.587000													17	43					0	0	0.004990	0	0
PCLO	27445	broad.mit.edu	37	7	82579027	82579027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:82579027G>A	ENST00000423517.2	-	6	11214	c.10877C>T	c.(10876-10878)cCc>cTc	p.P3626L	PCLO_ENST00000333891.8_Missense_Mutation_p.P3626L|PCLO_ENST00000437081.1_Missense_Mutation_p.P346L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3557					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						TGGTGAGATGGGTGAGTAAAG	0.478000													24	33					0	0	0.002780	0	0
RIN3	79890	broad.mit.edu	37	14	93118635	93118635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:93118635C>T	ENST00000216487.7	+	6	1400	c.1241C>T	c.(1240-1242)cCt>cTt	p.P414L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	414	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTCAGCCTGCCTCCCCAAGGG	0.652000													20	19					0	0	0.012319	0	0
TC2N	123036	broad.mit.edu	37	14	92264694	92264694	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:92264694C>T	ENST00000435962.2	-	7	1010	c.687G>A	c.(685-687)gtG>gtA	p.V229V	TC2N_ENST00000556018.1_Silent_p.V229V|TC2N_ENST00000340892.5_Silent_p.V229V|TC2N_ENST00000360594.5_Silent_p.V229V	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	229						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AAAACAATTTCACATTCAGTC	0.303000													18	26					0	0	0.014323	0	0
DSCAM	1826	broad.mit.edu	37	21	41384998	41384998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:41384998C>T	ENST00000400454.1	-	33	6479	c.6002G>A	c.(6001-6003)gGa>gAa	p.G2001E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	2001				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	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)				AGGATTGTTTCCTTTCAAATG	0.478000													17	18					0	0	0.010504	0	0
FILIP1	27145	broad.mit.edu	37	6	76022531	76022531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:76022531G>A	ENST00000393004.2	-	5	3238	c.3017C>T	c.(3016-3018)cCt>cTt	p.P1006L	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.P1006L|FILIP1_ENST00000370020.1_Missense_Mutation_p.P907L			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1006										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TATCTGAATAGGGGATGTGGG	0.512000													33	41					0	0	0.003271	0	0
NEURL2	140825	broad.mit.edu	37	20	44519216	44519216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:44519216G>A	ENST00000372518.4	-	1	710	c.415C>T	c.(415-417)Cca>Tca	p.P139S		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	139	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				AGGAGGGTTGGAGGTCGGCTG	0.697000													31	18					0	0	0.009535	0	0
WDR49	151790	broad.mit.edu	37	3	167240236	167240236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:167240236G>A	ENST00000308378.3	-	12	1890	c.1585C>T	c.(1585-1587)Cct>Tct	p.P529S	WDR49_ENST00000476376.1_Missense_Mutation_p.P354S|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	529										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCTCTTTTAGGAAGGAAAAGG	0.303000													11	9					0	0	0.010729	0	0
MED17	9440	broad.mit.edu	37	11	93521326	93521326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:93521326C>T	ENST00000251871.3	+	2	697	c.410C>T	c.(409-411)cCa>cTa	p.P137L	MED17_ENST00000530819.1_Missense_Mutation_p.P137L	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	137					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCACTTCCTCCAAAACAGGTA	0.358000													17	22					0	0	0.004990	0	0
MAGI1	9223	broad.mit.edu	37	3	65607716	65607716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:65607716G>A	ENST00000330909.8	-	2	360	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	MAGI1_ENST00000402939.2_Nonsense_Mutation_p.Q121*|MAGI1_ENST00000483466.1_Nonsense_Mutation_p.Q121*|MAGI1_ENST00000497477.2_Nonsense_Mutation_p.Q121*|MAGI1_ENST00000470990.1_5'UTR	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	121	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GACCCCTTCTGGAATCGCTGA	0.478000													19	44					0	0	0.008871	0	0
B4GALNT4	338707	broad.mit.edu	37	11	381765	381765	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:381765G>A	ENST00000329962.6	+	20	3093	c.3093G>A	c.(3091-3093)agG>agA	p.R1031R		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	1031						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCGCAGCAGGAAGGGCTCTC	0.687000													17	7					0	0	0.004007	0	0
PLCB1	23236	broad.mit.edu	37	20	8720001	8720001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:8720001C>T	ENST00000378641.3	+	21	2777	c.2302C>T	c.(2302-2304)Cgg>Tgg	p.R768W	PLCB1_ENST00000378637.2_Missense_Mutation_p.R768W|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.R768W	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	768					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCAAGCCATTCGGCCAGGTAT	0.383000													22	27					0	0	0.003330	0	0
DDX39A	10212	broad.mit.edu	37	19	14520412	14520412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:14520412G>A	ENST00000242776.4	-	8	1011	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	DDX39A_ENST00000592927.1_5'UTR	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	304	Helicase C-terminal.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						ACGAGGAGCTGGGCCAGGGCC	0.662000													19	27					0	0	0.014323	0	0
MYO16	23026	broad.mit.edu	37	13	109704685	109704685	+	Silent	SNP	G	G	A	rs144060419	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:109704685G>A	ENST00000356711.2	+	25	2970	c.2844G>A	c.(2842-2844)tcG>tcA	p.S948S	MYO16_ENST00000357550.2_Silent_p.S948S|MYO16_ENST00000457511.2_Silent_p.S460S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	948	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGTTCCAGTCGAAATTGTCAC	0.363000													12	12					0	0	0.004990	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253685	47253685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:47253685G>A	ENST00000296861.2	-	2	1136	c.743C>T	c.(742-744)cCc>cTc	p.P248L		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	248					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GTTACCTTTGGGAACATAAGT	0.488000													8	18					0	0	0.008291	0	0
LINGO4	339398	broad.mit.edu	37	1	151774811	151774811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:151774811C>T	ENST00000368820.3	-	2	1307	c.370G>A	c.(370-372)Ggg>Agg	p.G124R		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	124						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCCAGGCCCCATGATTCTG	0.587000													20	46					0	0	0.010504	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561347	145561347	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:145561347G>A	ENST00000355594.4	+	10	1122	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	345										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGAGCTAGGGGTCCTCCTAT	0.577000													5	10					0	0	0.001984	0	0
TRAV6	6956	broad.mit.edu	37	14	22237063	22237063	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:22237063C>T	ENST00000390428.3	+	0	147																											GAACAGAATTCCGAGGCCCTG	0.468000													4	4					0	0	0.000602	0	0
CIT	11113	broad.mit.edu	37	12	120220404	120220404	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:120220404A>C	ENST00000392521.2	-	13	1638	c.1583T>G	c.(1582-1584)gTg>gGg	p.V528G	CIT_ENST00000261833.7_Missense_Mutation_p.V528G|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	528					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCTGGGACACCTCCATCCG	0.488000													13	42					0	0	0.001855	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135745761	135745761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:135745761C>T	ENST00000264977.3	+	3	2700	c.2083C>T	c.(2083-2085)Ccc>Tcc	p.P695S	PPP2R3A_ENST00000490467.1_5'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.P74S	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	695	Pro-rich.		P -> L (in dbSNP:rs9826032).		protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTCCCCGGTTCCCCATGTGAA	0.448000													12	19					0	0	0.001855	0	0
ANKRD27	84079	broad.mit.edu	37	19	33133038	33133038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:33133038G>A	ENST00000306065.4	-	10	954	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C	ANKRD27_ENST00000587352.1_Missense_Mutation_p.R266C	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	266	VPS9.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTTTTGGCACGAGGTATGTTA	0.463000													47	54					0	0	0.014410	0	0
CAMTA1	23261	broad.mit.edu	37	1	7796527	7796527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:7796527C>T	ENST00000303635.7	+	13	3397	c.3190C>T	c.(3190-3192)Cgc>Tgc	p.R1064C	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R1064C	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1064					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AAAGACTTTCCGCGGAATGAC	0.597000			T	WWTR1	epitheliod hemangioendothelioma								40	28					0	0	0.009718	0	0
CEP350	9857	broad.mit.edu	37	1	180022222	180022222	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:180022222A>C	ENST00000367607.3	+	23	5328	c.4910A>C	c.(4909-4911)aAc>aCc	p.N1637T		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1637						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CGCAGATTTAACATGGAAAAG	0.373000													6	31					0	0	0.001168	0	0
OR1L6	392390	broad.mit.edu	37	9	125512268	125512268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:125512268C>T	ENST00000373684.1	+	1	250	c.250C>T	c.(250-252)Ccg>Tcg	p.P84S	OR1L6_ENST00000304720.2_Missense_Mutation_p.P48S			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GCTCATCATCCCGGCCATCTA	0.517000													22	59					0	0	0.002780	0	0
OXTR	5021	broad.mit.edu	37	3	8794894	8794894	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:8794894G>A	ENST00000316793.3	-	4	1563	c.939C>T	c.(937-939)atC>atT	p.I313I	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	313					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGAGCATGACGATGATGAAGG	0.552000													8	14					0	0	0.006214	0	0
ANK3	288	broad.mit.edu	37	10	61834260	61834260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:61834260C>T	ENST00000280772.1	-	37	6570	c.6379G>A	c.(6379-6381)Gac>Aac	p.D2127N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2127					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						AAGCCACTGTCAGACAAGGGA	0.418000													24	31					0	0	0.002780	0	0
NPAS2	4862	broad.mit.edu	37	2	101564765	101564765	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:101564765C>T	ENST00000335681.5	+	6	717	c.432C>T	c.(430-432)atC>atT	p.I144I	NPAS2_ENST00000542504.1_Silent_p.I209I|NPAS2_ENST00000486017.1_3'UTR	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	144	PAS 1.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTATAAAATCCTTTCTTCCC	0.343000													9	44					0	0	0.008291	0	0
MYO7B	4648	broad.mit.edu	37	2	128389279	128389279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:128389279G>A	ENST00000389524.4	+	37	5178	c.5125G>A	c.(5125-5127)Gac>Aac	p.D1709N	MYO7B_ENST00000428314.1_Missense_Mutation_p.D1708N|MYO7B_ENST00000409816.2_Missense_Mutation_p.D1708N|MYO7B_ENST00000409090.1_Missense_Mutation_p.D561N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1708	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGCCCTCCAGGACGAGGTCTA	0.672000													10	25					0	0	0.013537	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874878	20874878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:20874878G>A	ENST00000381552.1	+	8	1284	c.916G>A	c.(916-918)Gag>Aag	p.E306K	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.E188K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.E306K|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.E306K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.E257K			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	306					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCAAAGTAGAGAGGATTCTAA	0.403000													12	9					0	0	0.001855	0	0
OR1G1	8390	broad.mit.edu	37	17	3030132	3030132	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:3030132A>G	ENST00000328890.2	-	1	743	c.714T>C	c.(712-714)ttT>ttC	p.F238F		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TGCAGGTGGAAAAGGCTTTCC	0.493000													7	12					0	0	0.004482	0	0
CCDC91	55297	broad.mit.edu	37	12	28460596	28460596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:28460596G>A	ENST00000545336.1	+	9	909	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	CCDC91_ENST00000306172.5_Missense_Mutation_p.E134K|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.E164K|CCDC91_ENST00000381259.1_Missense_Mutation_p.E164K|CCDC91_ENST00000539107.1_Missense_Mutation_p.E164K			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	164					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					ATCATTGATGGAAAAGCATAA	0.284000													5	5					0	0	0.001168	0	0
RAD17	5884	broad.mit.edu	37	5	68682074	68682074	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:68682074A>T	ENST00000509734.1	+	9	1477	c.799A>T	c.(799-801)Aat>Tat	p.N267Y	RAD17_ENST00000345306.6_Missense_Mutation_p.N256Y|RAD17_ENST00000354312.3_Missense_Mutation_p.N256Y|RAD17_ENST00000521422.1_Missense_Mutation_p.N91Y|RAD17_ENST00000380774.3_Missense_Mutation_p.N267Y|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000305138.4_Missense_Mutation_p.N256Y|RAD17_ENST00000354868.5_Missense_Mutation_p.N256Y|RAD17_ENST00000358030.2_Missense_Mutation_p.N91Y|RAD17_ENST00000282891.6_Missense_Mutation_p.N170Y|RAD17_ENST00000361732.2_Missense_Mutation_p.N256Y			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	267					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGGAGATAATAATCAAAGGTT	0.308000								Other conserved DNA damage response genes					59	54					0	0	0.014410	0	0
BTAF1	9044	broad.mit.edu	37	10	93741920	93741920	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:93741920C>T	ENST00000265990.6	+	17	2294	c.1986C>T	c.(1984-1986)acC>acT	p.T662T	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	662					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GTGCCGACACCATCATGGAAG	0.473000													19	22					0	0	0.010504	0	0
SOCS3	9021	broad.mit.edu	37	17	76354883	76354883	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:76354883C>T	ENST00000330871.2	-	2	709	c.294G>A	c.(292-294)gaG>gaA	p.E98E		NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	98	SH2.				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			AGCTGCCCCCCTCACACTGGA	0.652000													10	17					0	0	0.010729	0	0
ZNF85	7639	broad.mit.edu	37	19	21132242	21132242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:21132242C>T	ENST00000601023.1	+	2	1391	c.745C>T	c.(745-747)Cat>Tat	p.H249Y	ZNF85_ENST00000345030.6_Missense_Mutation_p.H275Y|ZNF85_ENST00000328178.8_Missense_Mutation_p.H308Y			Q03923	ZNF85_HUMAN	zinc finger protein 85	308						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TAGAAAAATTCATACTGGAGA	0.363000													7	13					0	0	0.003080	0	0
VDR	7421	broad.mit.edu	37	12	48251326	48251326	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:48251326C>T	ENST00000229022.3	-	6	704	c.423G>A	c.(421-423)aaG>aaA	p.K141K	VDR_ENST00000395324.2_Silent_p.K141K|VDR_ENST00000549336.1_Silent_p.K141K|VDR_ENST00000535672.1_Silent_p.K109K|VDR_ENST00000550325.1_Silent_p.K191K	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	141	Hinge.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGTCGTAGGTCTTATGGTGGG	0.607000													27	17					0	0	0.003271	0	0
PRRG1	5638	broad.mit.edu	37	X	37312578	37312578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:37312578C>T	ENST00000542554.1	+	5	633	c.361C>T	c.(361-363)Cct>Tct	p.P121S	PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Missense_Mutation_p.P121S|PRRG1_ENST00000543642.1_Missense_Mutation_p.P121S|PRRG1_ENST00000449135.2_Missense_Mutation_p.P121S|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	121						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						AGGCCACATTCCTTTCCCTCA	0.458000													46	3					0	0	0.014410	0	0
MAP1B	4131	broad.mit.edu	37	5	71492963	71492963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:71492963C>T	ENST00000296755.7	+	5	4079	c.3781C>T	c.(3781-3783)Cca>Tca	p.P1261S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1261						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTCCCTGAGTCCATCTCCACC	0.502000													37	38					0	0	0.007835	0	0
MMP2	4313	broad.mit.edu	37	16	55516911	55516911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:55516911G>A	ENST00000219070.4	+	2	753	c.244G>A	c.(244-246)Gga>Aga	p.G82R	MMP2_ENST00000543485.1_Missense_Mutation_p.G6R|MMP2_ENST00000437642.2_Missense_Mutation_p.G32R|MMP2_ENST00000570308.1_Missense_Mutation_p.G6R	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	82					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GAAGTTCTTTGGACTGCCCCA	0.512000													23	4					0	0	0.003330	0	0
SIK3	23387	broad.mit.edu	37	11	116729393	116729393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:116729393G>A	ENST00000375300.1	-	20	2649	c.2644C>T	c.(2644-2646)Cct>Tct	p.P882S	SIK3_ENST00000292055.4_Missense_Mutation_p.P824S|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000375288.1_Intron			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	824	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TAGTTAGCAGGGGAGAACCGA	0.542000													135	156					0	0	0.014410	0	0
MIPOL1	145282	broad.mit.edu	37	14	37969155	37969155	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:37969155G>A	ENST00000327441.7	+	13	1540	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	MIPOL1_ENST00000537471.1_Silent_p.Q358Q|MIPOL1_ENST00000539062.2_Silent_p.Q327Q|MIPOL1_ENST00000556451.1_Silent_p.Q327Q|MIPOL1_ENST00000545536.1_Silent_p.Q327Q|MIPOL1_ENST00000396294.2_Silent_p.Q358Q|MIPOL1_ENST00000536774.1_Silent_p.Q177Q	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	358										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TGAAGGATCAGTTTAACTATA	0.299000													20	26					0	0	0.010504	0	0
DOCK6	57572	broad.mit.edu	37	19	11352829	11352829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:11352829G>A	ENST00000294618.7	-	14	1546	c.1535C>T	c.(1534-1536)tCc>tTc	p.S512F		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	512					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CAGCTCAGGGGAGAGGCAGAA	0.622000													6	9					0	0	0.003080	0	0
FAM135B	51059	broad.mit.edu	37	8	139164962	139164962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:139164962C>T	ENST00000395297.1	-	13	1926	c.1756G>A	c.(1756-1758)Gga>Aga	p.G586R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	586										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGTCTAATCCATACTTATCT	0.453000										HNSCC(54;0.14)			17	54					0	0	0.012319	0	0
SSSCA1	10534	broad.mit.edu	37	11	65338926	65338926	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:65338926C>T	ENST00000531405.1	+	3	446	c.210C>T	c.(208-210)ctC>ctT	p.L70L	SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000309328.3_Silent_p.L107L|SSSCA1_ENST00000527920.1_Intron			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	107					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CCTCAGAGCTCCCCCTGGGCT	0.647000													31	39					0	0	0.009535	0	0
REEP1	65055	broad.mit.edu	37	2	86479172	86479172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:86479172G>A	ENST00000165698.5	-	5	468	c.325C>T	c.(325-327)Caa>Taa	p.Q109*	REEP1_ENST00000535845.1_Nonsense_Mutation_p.Q82*|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000541910.1_Intron|REEP1_ENST00000540790.1_Nonsense_Mutation_p.Q88*|REEP1_ENST00000538924.1_Nonsense_Mutation_p.Q116*	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	109					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCTTTTGCTTGGACCAGACAA	0.507000													43	45					0	0	0.009718	0	0
TLL1	7092	broad.mit.edu	37	4	166964467	166964467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:166964467C>T	ENST00000061240.2	+	12	2067	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.Q474*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	474	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGACAGATTCAGTCTCCCAA	0.413000													68	74					0	0	0.014410	0	0
BMP8A	353500	broad.mit.edu	37	1	39987206	39987206	+	Missense_Mutation	SNP	G	G	A	rs142499129	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:39987206G>A	ENST00000331593.5	+	4	1178	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	278					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAAAGCAACGAGCTGCCGCA	0.647000													21	0					0	0	0.003330	0	0
ZNF391	346157	broad.mit.edu	37	6	27368998	27368998	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:27368998G>A	ENST00000244576.4	+	3	1394	c.849G>A	c.(847-849)ggG>ggA	p.G283G		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GTGAATGTGGGAAAGTGTTCA	0.463000													14	7					0	0	0.002450	0	0
SMARCA4	6597	broad.mit.edu	37	19	11094893	11094893	+	Silent	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:11094893T>A	ENST00000358026.2	+	2	350	c.66T>A	c.(64-66)ccT>ccA	p.P22P	SMARCA4_ENST00000413806.3_Silent_p.P22P|SMARCA4_ENST00000450717.3_Silent_p.P22P|SMARCA4_ENST00000344626.4_Silent_p.P22P|SMARCA4_ENST00000590574.1_Silent_p.P22P|SMARCA4_ENST00000589677.1_Silent_p.P22P|SMARCA4_ENST00000541122.2_Silent_p.P22P|SMARCA4_ENST00000444061.3_Silent_p.P22P|SMARCA4_ENST00000429416.3_Silent_p.P22P	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	22	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCCTGGCCCTTCCCCTGGAG	0.721000			"""F, N, Mis"""		NSCLC								24	19					0	0	0.009535	0	0
BSDC1	55108	broad.mit.edu	37	1	32843855	32843855	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:32843855G>A	ENST00000341071.7	-	7	620	c.609C>T	c.(607-609)ttC>ttT	p.F203F	BSDC1_ENST00000449308.1_Silent_p.F186F|BSDC1_ENST00000455895.2_Silent_p.F186F|BSDC1_ENST00000413080.1_Intron|BSDC1_ENST00000526031.1_Silent_p.F91F|BSDC1_ENST00000419121.2_Silent_p.F130F|BSDC1_ENST00000446293.2_Silent_p.F203F			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	186							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCGATGCCAGAATTCTGAAT	0.517000													8	40					0	0	0.006214	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309811	22309811	+	RNA	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:22309811A>C	ENST00000390433.1	+	0	195																											GCAGGAAAGAACCTAAGTTGC	0.463000													19	28					0	0	0.008871	0	0
FAM47C	442444	broad.mit.edu	37	X	37029226	37029226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:37029226G>A	ENST00000358047.3	+	1	2795	c.2743G>A	c.(2743-2745)Gaa>Aaa	p.E915K		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	915										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTTCTCACAGGAAAAAGACTT	0.453000													28	3					0	0	0.005443	0	0
TMEM121	80757	broad.mit.edu	37	14	105995409	105995409	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:105995409T>C	ENST00000392519.2	+	2	402	c.238T>C	c.(238-240)Ttc>Ctc	p.F80L	TMEM121_ENST00000431372.1_Missense_Mutation_p.F80L	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	80						integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GATCCTGTGGTTCCTTTACAT	0.667000													9	10					0	0	0.010729	0	0
FAM71A	149647	broad.mit.edu	37	1	212798835	212798835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:212798835G>A	ENST00000294829.3	+	1	1047	c.616G>A	c.(616-618)Gga>Aga	p.G206R	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	206										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GAGGAGCCTGGGAGCCGTGAA	0.567000													45	21					0	0	0.008740	0	0
SLC12A8	84561	broad.mit.edu	37	3	124829174	124829174	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:124829174G>A	ENST00000423114.2	-	9	1004	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S	SLC12A8_ENST00000430155.2_Silent_p.S107S|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Silent_p.S59S|SLC12A8_ENST00000393469.4_Silent_p.S306S|SLC12A8_ENST00000469902.1_Silent_p.S306S			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	306					potassium ion transport	integral to membrane	symporter activity	p.S306S(1)		endometrium(2)|kidney(2)|lung(12)	16						AGCCCATGAGGGATACCTGTG	0.572000													12	6					0	0	0.003163	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562884	145562884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:145562884G>A	ENST00000355594.4	+	10	2659	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	858										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTCTGTTGGAAAAGTATAA	0.677000													15	8					0	0	0.003163	0	0
ABCA12	26154	broad.mit.edu	37	2	215884292	215884292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:215884292G>A	ENST00000272895.7	-	12	1735	c.1516C>T	c.(1516-1518)Cca>Tca	p.P506S	ABCA12_ENST00000389661.4_Missense_Mutation_p.P188S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	506					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATTTTGCTTGGATCTCCAGTC	0.368000													18	18					0	0	0.008871	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176919	193176919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:193176919G>A	ENST00000342695.4	-	14	1947	c.1625C>T	c.(1624-1626)aCc>aTc	p.T542I	ATP13A4_ENST00000392443.3_Missense_Mutation_p.T523I|ATP13A4_ENST00000295548.3_Missense_Mutation_p.T542I	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	542					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCCCTGGATGGTCCCATCAAG	0.542000													43	30					0	0	0.009718	0	0
IGSF21	84966	broad.mit.edu	37	1	18554486	18554486	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:18554486G>A	ENST00000251296.1	+	2	548	c.165G>A	c.(163-165)cgG>cgA	p.R55R		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	55	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGCGCATGCGGGAGATCGTGT	0.582000													12	42					0	0	0.010729	0	0
BRAP	8315	broad.mit.edu	37	12	112093432	112093432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:112093432C>T	ENST00000419234.4	-	10	1442	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	BRAP_ENST00000327551.6_Missense_Mutation_p.E387K|BRAP_ENST00000539060.1_Missense_Mutation_p.E238K	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	417					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CGCTGAGATTCCAGCTGGCTT	0.393000													29	22					0	0	0.003755	0	0
LRRC8D	55144	broad.mit.edu	37	1	90398923	90398923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:90398923C>T	ENST00000337338.5	+	3	703	c.296C>T	c.(295-297)tCc>tTc	p.S99F	LRRC8D_ENST00000394593.3_Missense_Mutation_p.S99F	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	99						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AACGACATTTCCTTTGGGACA	0.498000													15	8					0	0	0.003163	0	0
SENP6	26054	broad.mit.edu	37	6	76388550	76388550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:76388550C>T	ENST00000370014.3	+	16	2601	c.1982C>T	c.(1981-1983)cCa>cTa	p.P661L	SENP6_ENST00000327284.8_Missense_Mutation_p.P654L|SENP6_ENST00000370010.2_Missense_Mutation_p.P654L|SENP6_ENST00000541192.1_Missense_Mutation_p.P257L|SENP6_ENST00000447266.2_Missense_Mutation_p.P661L	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	661					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CCACCACCTCCAGCTAAGGGA	0.318000													13	9					0	0	0.013537	0	0
SLC36A2	153201	broad.mit.edu	37	5	150715005	150715005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:150715005G>A	ENST00000335244.4	-	6	758	c.629C>T	c.(628-630)cCc>cTc	p.P210L	SLC36A2_ENST00000521967.1_Missense_Mutation_p.P210L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	210					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	p.P210H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCAGGAAGGGCAGGAAGGA	0.522000													34	54					0	0	0.004878	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970719	45970719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:45970719G>A	ENST00000391621.1	-	1	669	c.623C>T	c.(622-624)cCg>cTg	p.P208L	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	208	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CTGGCAGCACGGAGAGGAAGC	0.637000													46	69					0	0	0.014410	0	0
TNIK	23043	broad.mit.edu	37	3	170786696	170786696	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:170786696C>A	ENST00000436636.2	-	30	3984	c.3640G>T	c.(3640-3642)Ggt>Tgt	p.G1214C	TNIK_ENST00000538048.1_Missense_Mutation_p.G1166C|TNIK_ENST00000357327.5_Missense_Mutation_p.G1185C|TNIK_ENST00000475336.1_Missense_Mutation_p.G1122C|TNIK_ENST00000284483.8_Missense_Mutation_p.G1206C|TNIK_ENST00000460047.1_Missense_Mutation_p.G1151C|TNIK_ENST00000488470.1_Missense_Mutation_p.G1159C|TNIK_ENST00000369326.5_Missense_Mutation_p.G1192C|TNIK_ENST00000341852.6_Missense_Mutation_p.G1130C|TNIK_ENST00000470834.1_Missense_Mutation_p.G1177C	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1214	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACATGGAAACCAGTGTGTGAA	0.373000													31	15					5.45727e-16	7.3112e-16	0.008361	1	0
CRB1	23418	broad.mit.edu	37	1	197396630	197396630	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:197396630C>T	ENST00000367397.1	+	3	1176	c.318C>T	c.(316-318)gtC>gtT	p.V106V	CRB1_ENST00000535699.1_Silent_p.V656V|CRB1_ENST00000367399.2_Silent_p.V613V|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Silent_p.V206V|CRB1_ENST00000367400.3_Silent_p.V725V|CRB1_ENST00000543483.1_3'UTR			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	725	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGGTTATGTCATCTTTACTC	0.438000													8	23					0	0	0.008291	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072969	34072969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:34072969C>T	ENST00000254466.6	-	6	1574	c.1547G>A	c.(1546-1548)gGa>gAa	p.G516E	GAS2L2_ENST00000587565.1_Missense_Mutation_p.G500E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	516					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)		AAAGCTCCTTCCTGGTGTTGG	0.612000													26	29					0	0	0.003954	0	0
TENM2	57451	broad.mit.edu	37	5	167653106	167653106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:167653106G>A	ENST00000519204.1	+	23	4877	c.4759G>A	c.(4759-4761)Ggc>Agc	p.G1587S	TENM2_ENST00000545108.1_Missense_Mutation_p.G1707S|TENM2_ENST00000403607.2_Missense_Mutation_p.G1532S|TENM2_ENST00000518659.1_Missense_Mutation_p.G1708S|TENM2_ENST00000520394.1_Missense_Mutation_p.G1469S					teneurin transmembrane protein 2																		TGACCACGAAGGCCGCCTGAC	0.537000													10	8					0	0	0.010729	0	0
HTR1A	3350	broad.mit.edu	37	5	63256338	63256338	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:63256338G>A	ENST00000323865.3	-	1	1442	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	403					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGTCCTTGTTGAAGTATGCGT	0.522000													118	121					0	0	0.014410	0	0
RAG2	5897	broad.mit.edu	37	11	36614448	36614448	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:36614448T>A	ENST00000311485.3	-	2	1432	c.1271A>T	c.(1270-1272)gAt>gTt	p.D424V		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	424					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GATATCCACATCACAAGTAGG	0.443000									Familial Hemophagocytic Lymphohistiocytosis				12	40					0	0	0.013537	0	0
USP26	83844	broad.mit.edu	37	X	132161857	132161857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:132161857G>A	ENST00000511190.1	-	6	861	c.392C>T	c.(391-393)tCa>tTa	p.S131L	USP26_ENST00000406273.1_Missense_Mutation_p.S131L|USP26_ENST00000370832.1_Missense_Mutation_p.S131L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	131					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTTGTGGAATGAAGTTTTGTT	0.423000													7	0					0	0	0.003080	0	0
CTLA4	1493	broad.mit.edu	37	2	204735472	204735472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:204735472G>A	ENST00000302823.3	+	2	430	c.273G>A	c.(271-273)atG>atA	p.M91I	CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000295854.6_Missense_Mutation_p.M91I|CTLA4_ENST00000427473.2_Missense_Mutation_p.M54I|CTLA4_ENST00000472206.1_Intron	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	91	Ig-like V-type.				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	CCTACATGATGGGGAATGAGT	0.552000													20	64					0	0	0.012319	0	0
NXPE4	54827	broad.mit.edu	37	11	114453041	114453041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:114453041G>A	ENST00000375478.3	-	3	979	c.799C>T	c.(799-801)Ctt>Ttt	p.L267F	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TGTTTGCTAAGATAAGAAACT	0.393000													20	26					0	0	0.007413	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494415	20494415	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20494415C>T	ENST00000573854.1	+	13	1659	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	ACSM2A_ENST00000536134.1_Silent_p.F287F|ACSM2A_ENST00000417235.2_Silent_p.F436F|ACSM2A_ENST00000219054.6_Silent_p.F515F|ACSM2A_ENST00000396104.2_Silent_p.F515F|ACSM2A_ENST00000575690.1_Silent_p.F515F	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	515					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.F515F(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCTCGCAGTTCCTGTCCCATG	0.507000													48	62					0	0	0.014410	0	0
DNAH7	56171	broad.mit.edu	37	2	196866403	196866403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:196866403G>A	ENST00000312428.6	-	11	1269	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	DNAH7_ENST00000410072.1_Missense_Mutation_p.P390L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	390	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACTTACTGGGGGTTGTGCAAT	0.368000													11	28					0	0	0.001855	0	0
FOXO1	2308	broad.mit.edu	37	13	41134638	41134638	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:41134638G>A	ENST00000379561.5	-	2	1374	c.990C>T	c.(988-990)ccC>ccT	p.P330P		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	330					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CGGTCATAATGGGTGAGAGTC	0.488000													42	63					0	0	0.014410	0	0
SLC2A7	155184	broad.mit.edu	37	1	9074901	9074901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:9074901C>T	ENST00000400906.1	-	7	741	c.742G>A	c.(742-744)Gac>Aac	p.D248N		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	248						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCCTCCATGTCCGTGTGGCCT	0.711000													10	1					0	0	0.010729	0	0
MYB	4602	broad.mit.edu	37	6	135513576	135513576	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:135513576C>T	ENST00000341911.5	+	6	841	c.642C>T	c.(640-642)ttC>ttT	p.F214F	MYB_ENST00000527615.1_Silent_p.F214F|MYB_ENST00000420123.2_Silent_p.F190F|MYB_ENST00000533624.1_Silent_p.F214F|MYB_ENST00000316528.8_Silent_p.F214F|MYB_ENST00000442647.2_Silent_p.F214F|MYB_ENST00000528774.1_Silent_p.F214F|MYB_ENST00000534121.1_Silent_p.F214F|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534044.1_Silent_p.F214F|MYB_ENST00000525369.1_Silent_p.F214F|MYB_ENST00000367814.4_Silent_p.F214F	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	214					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CCACAAGCTTCCAGAAGAACA	0.512000			T	NFIB	adenoid cystic carcinoma								51	46					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9063559	9063559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9063559G>A	ENST00000397910.4	-	3	24090	c.23887C>T	c.(23887-23889)Ccc>Tcc	p.P7963S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7965	Ser-rich.|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						TCCAGAAGGGGAGGGCTCATC	0.453000													14	15					0	0	0.002450	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161029454	161029454	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:161029454C>T	ENST00000368013.3	-	2	470	c.150G>A	c.(148-150)gtG>gtA	p.V50V	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Silent_p.V50V	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	50	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGATCCCATCCACCACTCCAT	0.572000													14	72					0	0	0.006122	0	0
DOCK3	1795	broad.mit.edu	37	3	51297656	51297656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:51297656G>A	ENST00000266037.9	+	23	2277	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	752						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTGTGGAATGGAAGAGGAACA	0.453000													5	7					0	0	0.000602	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095719	103095719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:103095719G>A	ENST00000295269.4	+	2	1135	c.678G>A	c.(676-678)atG>atA	p.M226I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	226					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGCTCTACATGATGATCTTTG	0.617000													10	10					0	0	0.013537	0	0
PIK3C3	5289	broad.mit.edu	37	18	39573253	39573253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:39573253C>T	ENST00000262039.4	+	7	820	c.734C>T	c.(733-735)cCa>cTa	p.P245L	PIK3C3_ENST00000398870.3_Missense_Mutation_p.P182L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	245					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GAATCATCTCCAATTTTAACA	0.294000										TSP Lung(28;0.18)			9	8					0	0	0.006214	0	0
ZNF454	285676	broad.mit.edu	37	5	178392133	178392133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:178392133C>T	ENST00000320129.3	+	5	1031	c.728C>T	c.(727-729)cCc>cTc	p.P243L	ZNF454_ENST00000519564.1_Missense_Mutation_p.P243L	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GGCGAGAAACCCTATGAATGT	0.418000													61	48					0	0	0.014410	0	0
KANK2	25959	broad.mit.edu	37	19	11280534	11280534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:11280534C>T	ENST00000589894.1	-	10	2520	c.2521G>A	c.(2521-2523)Ggg>Agg	p.G841R	KANK2_ENST00000586659.1_Intron|KANK2_ENST00000432929.2_Intron|KANK2_ENST00000587317.1_Intron|KANK2_ENST00000589359.1_Intron|KANK2_ENST00000355150.5_Intron			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	0										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CGTGCCTACCCGGCCGGATTG	0.562000													6	11					0	0	0.001984	0	0
MT1H	4496	broad.mit.edu	37	16	56704472	56704472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:56704472C>T	ENST00000569155.1	+	2	128	c.83C>T	c.(82-84)tCc>tTc	p.S28F	MT1H_ENST00000332374.4_Missense_Mutation_p.S28F			P80294	MT1H_HUMAN	metallothionein 1H	28	Beta.						metal ion binding|protein binding			lung(5)	5						AAATGCACCTCCTGCAAGAAG	0.567000													14	0					0	0	0.001855	0	0
CEP89	84902	broad.mit.edu	37	19	33414371	33414371	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:33414371C>T	ENST00000305768.4	-	12	1330	c.1242G>A	c.(1240-1242)aaG>aaA	p.K414K		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	414						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CAGCACTACTCTTATTTAACT	0.333000													44	71					0	0	0.014410	0	0
FANCI	55215	broad.mit.edu	37	15	89850735	89850735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:89850735G>A	ENST00000310775.7	+	33	3652	c.3566G>A	c.(3565-3567)gGa>gAa	p.G1189E	FANCI_ENST00000300027.8_Missense_Mutation_p.G1129E	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1189					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGCTCCGGAGGAATTCCAAAA	0.423000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				29	0					0	0	0.007291	0	0
P2RY14	9934	broad.mit.edu	37	3	150931471	150931471	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:150931471T>A	ENST00000309170.3	-	3	946	c.634A>T	c.(634-636)Aaa>Taa	p.K212*	P2RY14_ENST00000424796.2_Nonsense_Mutation_p.K212*|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	212						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			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)			TTAAAGATTTTCTTTGTGATA	0.398000													19	11					0	0	0.006122	0	0
WDR49	151790	broad.mit.edu	37	3	167196743	167196743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:167196743C>T	ENST00000308378.3	-	15	2322	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	WDR49_ENST00000476376.1_Missense_Mutation_p.E498K|WDR49_ENST00000453925.2_Missense_Mutation_p.E638K|WDR49_ENST00000479765.1_3'UTR|SERPINI2_ENST00000476257.1_5'UTR	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	673										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGCAGAATTTCCTTGGGAAAC	0.313000													11	6					0	0	0.008291	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41621026	41621026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:41621026C>T	ENST00000216237.5	+	11	1465	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	436					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGCTGGAGGCCATTGACCCC	0.602000													43	62					0	0	0.014410	0	0
CHCHD2	51142	broad.mit.edu	37	7	56174060	56174060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:56174060G>A	ENST00000395422.3	-	1	209	c.47C>T	c.(46-48)gCc>gTc	p.A16V		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	16						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTCTCACCTGGCCGGAGGGGC	0.662000													32	6					0	0	0.009718	0	0
ORAOV1	220064	broad.mit.edu	37	11	69482350	69482350	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:69482350A>G	ENST00000279147.4	-	5	458	c.351T>C	c.(349-351)tgT>tgC	p.C117C	ORAOV1_ENST00000535657.1_Silent_p.C117C|ORAOV1_ENST00000536870.1_Silent_p.C58C|ORAOV1_ENST00000539414.1_3'UTR	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	117										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			TGAGTAACGAACAAAACTGAA	0.368000													31	25					0	0	0.004878	0	0
CHIT1	1118	broad.mit.edu	37	1	203188378	203188378	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:203188378A>T	ENST00000367229.1	-	9	1029	c.995T>A	c.(994-996)gTg>gAg	p.V332E	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.V313E|CHIT1_ENST00000535569.1_Missense_Mutation_p.V323E	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	332					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						ATCAAAGCCCACCCACTGGTT	0.557000													29	108					0	0	0.004878	0	0
BTAF1	9044	broad.mit.edu	37	10	93768959	93768959	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:93768959G>C	ENST00000265990.6	+	28	4405	c.4097G>C	c.(4096-4098)aGa>aCa	p.R1366T	BTAF1_ENST00000544642.1_Missense_Mutation_p.R194T	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1366	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCCACTGAAAGAATAAGGTAA	0.353000													19	27					0	0	0.010504	0	0
FAM175B	23172	broad.mit.edu	37	10	126508016	126508016	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:126508016A>T	ENST00000298492.5	+	4	309	c.264A>T	c.(262-264)agA>agT	p.R88S		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	88	MPN-like.					BRISC complex	polyubiquitin binding			NS(1)	1						AAGATCGGAGAAAGGTATGTT	0.353000													21	9					0	0	0.014323	0	0
STAMBP	10617	broad.mit.edu	37	2	74077595	74077595	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:74077595C>T	ENST00000394070.2	+	7	1463	c.960C>T	c.(958-960)ttC>ttT	p.F320F	STAMBP_ENST00000339566.3_Silent_p.F320F|STAMBP_ENST00000409707.1_Silent_p.F320F|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000394073.1_Silent_p.F320F	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	320	MPN.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						AAGAACTTTTCCTCATACAGG	0.468000													30	38					0	0	0.012213	0	0
PAQR3	152559	broad.mit.edu	37	4	79847852	79847852	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:79847852C>T	ENST00000512733.1	-	4	738	c.525G>A	c.(523-525)ttG>ttA	p.L175L	PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000380645.4_Silent_p.L175L	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	175						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						GCACTGTGATCAAGTACACCT	0.388000													23	38					0	0	0.003330	0	0
C4orf51	646603	broad.mit.edu	37	4	146601511	146601511	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:146601511C>T	ENST00000438731.1	+	1	156	c.156C>T	c.(154-156)taC>taT	p.Y52Y		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	52										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						CAGGCAGTTACCGGAAAAAAC	0.438000													36	46					0	0	0.003755	0	0
NPAP1	23742	broad.mit.edu	37	15	24922118	24922118	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:24922118C>T	ENST00000329468.2	+	1	1578	c.1104C>T	c.(1102-1104)acC>acT	p.T368T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACCTACACACCTTGGAGAAGA	0.542000													15	14					0	0	0.004007	0	0
TET2	54790	broad.mit.edu	37	4	106156520	106156520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:106156520C>T	ENST00000540549.1	+	3	2281	c.1421C>T	c.(1420-1422)cCg>cTg	p.P474L	TET2_ENST00000305737.2_Missense_Mutation_p.P474L|TET2_ENST00000545826.1_Missense_Mutation_p.P474L|TET2_ENST00000380013.4_Missense_Mutation_p.P474L|TET2_ENST00000394764.1_Missense_Mutation_p.P474L|TET2_ENST00000513237.1_Missense_Mutation_p.P495L|TET2_ENST00000413648.2_Missense_Mutation_p.P474L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	474					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGCCCTTCTCCGATGCTTTCT	0.438000			"""Mis N, F"""		MDS								11	54					0	0	0.013537	0	0
HTR3B	9177	broad.mit.edu	37	11	113802525	113802525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:113802525G>A	ENST00000260191.2	+	4	561	c.304G>A	c.(304-306)Gag>Aag	p.E102K	HTR3B_ENST00000537778.1_Missense_Mutation_p.E91K	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	102					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CATGTTTGATGAGATTAGAGA	0.418000													32	35					0	0	0.006230	0	0
CD163L1	283316	broad.mit.edu	37	12	7510083	7510083	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:7510083C>T	ENST00000313599.3	-	19	4337		c.e19-1		CD163L1_ENST00000396630.1_Splice_Site|CD163L1_ENST00000416109.2_Splice_Site			Q9NR16	C163B_HUMAN	CD163 molecule-like 1							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						GGGGTGTCATCTGAAAGAAAG	0.443000													12	5					0	0	0.001855	0	0
TNR	7143	broad.mit.edu	37	1	175372465	175372465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:175372465C>T	ENST00000367674.1	-	4	1495	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	TNR_ENST00000263525.2_Missense_Mutation_p.E263K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	263	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E263K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACCTCAGTTCCCTGCAGTCC	0.637000													28	7					0	0	0.005443	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564359	176564359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:176564359C>T	ENST00000367662.3	+	3	2783	c.1619C>T	c.(1618-1620)cCc>cTc	p.P540L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P540L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	540	Metalloprotease.				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						GGCCTAAACCCCATTGTGAGT	0.552000													10	36					0	0	0.006214	0	0
C11orf24	53838	broad.mit.edu	37	11	68029831	68029831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:68029831G>A	ENST00000304271.6	-	4	1034	c.632C>T	c.(631-633)gCc>gTc	p.A211V	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	211						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						AGCACGTGTGGCCAATGTGGC	0.602000													37	43					0	0	0.006230	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016501	38016501	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:38016501C>T	ENST00000261439.4	+	3	1144	c.789C>T	c.(787-789)tcC>tcT	p.S263S	TBC1D1_ENST00000508802.1_Silent_p.S263S	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	263	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCTTCAGCTCCTTCGAGGAGA	0.562000													5	16					0	0	0.000602	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539940	133539940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:133539940C>T	ENST00000409261.1	-	14	4817	c.4444G>A	c.(4444-4446)Gaa>Aaa	p.E1482K	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1482K|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1482							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCCACATTTTCCTGAATGCAC	0.517000													19	26					0	0	0.008871	0	0
PNLIP	5406	broad.mit.edu	37	10	118315535	118315535	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:118315535A>T	ENST00000369221.2	+	9	863	c.835A>T	c.(835-837)Aat>Tat	p.N279Y		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	279					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGCGGCCTGTAATCACTTAAG	0.408000													37	55					0	0	0.006230	0	0
CCDC14	64770	broad.mit.edu	37	3	123633735	123633735	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:123633735G>T	ENST00000485727.1	-	9	6745	c.2153C>A	c.(2152-2154)tCa>tAa	p.S718*	CCDC14_ENST00000310351.4_Nonsense_Mutation_p.S758*|CCDC14_ENST00000433542.2_Nonsense_Mutation_p.S877*|CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000488653.2_Nonsense_Mutation_p.S918*|CCDC14_ENST00000489746.1_Nonsense_Mutation_p.S718*			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	918						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AGTGAACGTTGAAAACGAAGA	0.443000													9	13					7.48243e-07	9.921e-07	0.006214	1	0
CYP2C8	1558	broad.mit.edu	37	10	96827077	96827077	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:96827077G>A	ENST00000371270.3	-	3	463	c.369C>T	c.(367-369)atC>atT	p.I123I	CYP2C8_ENST00000539050.1_Silent_p.I37I|CYP2C8_ENST00000535898.1_Silent_p.I21I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	123					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AGAAACGCCGGATCTCCTTCC	0.483000													22	27					0	0	0.012319	0	0
CPM	1368	broad.mit.edu	37	12	69250406	69250406	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:69250406T>A	ENST00000551568.1	-	9	1203	c.1143A>T	c.(1141-1143)aaA>aaT	p.K381N	CPM_ENST00000338356.3_Missense_Mutation_p.K381N|CPM_ENST00000546373.1_Missense_Mutation_p.K381N	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	381					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AGTTCTGGGATTTCTCCGGAA	0.408000													23	9					0	0	0.002780	0	0
NACAP1	83955	broad.mit.edu	37	8	102381364	102381364	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:102381364G>A	ENST00000419462.1	+	0	776					NR_002182.1																						AAGAAGGCACGGAAGGCTAGG	0.458000													33	20					0	0	0.005524	0	0
TTN	7273	broad.mit.edu	37	2	179398942	179398942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179398942C>T	ENST00000589042.1	-	358	102624	c.102400G>A	c.(102400-102402)Gaa>Aaa	p.E34134K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25069K|TTN_ENST00000359218.5_Missense_Mutation_p.E25194K|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25261K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31566K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32493K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32493	Ig-like 151.|Ser-rich.						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)			GGGCCAATTTCAATGGATGCC	0.443000													9	35					0	0	0.004482	0	0
LAMB2	3913	broad.mit.edu	37	3	49168499	49168499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49168499G>A	ENST00000418109.1	-	8	963	c.799C>T	c.(799-801)Cga>Tga	p.R267*	LAMB2_ENST00000305544.4_Nonsense_Mutation_p.R267*	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	267	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TACTTCTCTCGGATCTCCCTC	0.582000													21	16					0	0	0.002780	0	0
ZNF318	24149	broad.mit.edu	37	6	43305569	43305569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:43305569G>A	ENST00000361428.2	-	10	6244	c.6167C>T	c.(6166-6168)tCc>tTc	p.S2056F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2056					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGGATCGGAGGAATTACACCC	0.463000													27	24					0	0	0.005443	0	0
ANKEF1	63926	broad.mit.edu	37	20	10023879	10023879	+	Silent	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:10023879A>C	ENST00000378380.3	+	3	785	c.456A>C	c.(454-456)atA>atC	p.I152I	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.I152I	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GAAAGCCAATATTCCTTAGAG	0.413000													23	35					0	0	0.002780	0	0
MCU	90550	broad.mit.edu	37	10	74631160	74631160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:74631160C>T	ENST00000536019.1	+	6	981	c.536C>T	c.(535-537)gCt>gTt	p.A179V	MCU_ENST00000357157.6_Missense_Mutation_p.A207V|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000373053.3_Missense_Mutation_p.A228V	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	228					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						AGCAGAAAAGCTGAGAAGAGG	0.448000													88	115					0	0	0.014410	0	0
DDX41	51428	broad.mit.edu	37	5	176941707	176941707	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:176941707G>A	ENST00000507955.1	-	9	1453	c.930C>T	c.(928-930)atC>atT	p.I310I		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	310	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CTCACTGTCGGATGGTCTCCA	0.597000													90	120					0	0	0.014410	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77492302	77492302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:77492302G>A	ENST00000238647.3	-	1	2732	c.1834C>T	c.(1834-1836)Cca>Tca	p.P612S		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	612	Pro-rich.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GACTCAGGTGGGGTGGTCCGG	0.716000													9	3					0	0	0.006214	0	0
KCNV2	169522	broad.mit.edu	37	9	2717996	2717996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:2717996C>T	ENST00000382082.3	+	1	495	c.257C>T	c.(256-258)cCc>cTc	p.P86L		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	86						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P86H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		ACCGCCAAGCCCGAGGGCCCC	0.657000													16	1					0	0	0.010504	0	0
PPAN	56342	broad.mit.edu	37	19	10224563	10224563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:10224563C>T	ENST00000556468.1	+	13	1561	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.P512S|P2RY11_ENST00000321826.4_Missense_Mutation_p.P92S|PPAN-P2RY11_ENST00000428358.1_3'UTR					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCTCTATCCCCCCAAGCACTG	0.677000											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	5					0	0	0.003080	0	0
C1orf87	127795	broad.mit.edu	37	1	60506693	60506693	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:60506693C>T	ENST00000371201.3	-	4	560	c.453G>A	c.(451-453)caG>caA	p.Q151Q	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	151			Q -> E (in a breast cancer sample; somatic mutation).				calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCTCACCATCTGTTCCAAGG	0.463000													17	58					0	0	0.007413	0	0
AHSA2	130872	broad.mit.edu	37	2	61412663	61412663	+	Silent	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:61412663G>T	ENST00000394457.2	+	4	1845	c.102G>T	c.(100-102)ctG>ctT	p.L34L	AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000357022.2_Silent_p.L34L|AHSA2_ENST00000410073.1_Silent_p.L34L	NM_152392.3	NP_689605.1	Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)	196					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			CAGTGGCACTGGGTGTAAGGA	0.458000													55	57					2.44813e-32	3.29754e-32	0.014410	1	0
APOB	338	broad.mit.edu	37	2	21231816	21231816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:21231816G>A	ENST00000233242.1	-	26	8051	c.7924C>T	c.(7924-7926)Cca>Tca	p.P2642S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2642					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACCTGGATGGGATTTTTATA	0.358000													101	103					0	0	0.014410	0	0
ASAP3	55616	broad.mit.edu	37	1	23758321	23758321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:23758321G>A	ENST00000336689.3	-	23	2458	c.2414C>T	c.(2413-2415)cCc>cTc	p.P805L	ASAP3_ENST00000495646.1_Missense_Mutation_p.P309L|ASAP3_ENST00000484906.1_Intron|ASAP3_ENST00000437606.2_Missense_Mutation_p.P796L	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	805					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AGGTTCCAAGGGGCTCATCAG	0.637000													25	80					0	0	0.005443	0	0
CLIC5	53405	broad.mit.edu	37	6	45917093	45917093	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:45917093C>A	ENST00000185206.6	-	3	828	c.676G>T	c.(676-678)Gcc>Tcc	p.A226S	CLIC5_ENST00000339561.6_Missense_Mutation_p.A67S|CLIC5_ENST00000544153.1_Missense_Mutation_p.A67S	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	226					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GTGCCGGGGGCTAGGTTGTGC	0.537000													46	39					8.00217e-19	1.07315e-18	0.014410	1	0
OGDHL	55753	broad.mit.edu	37	10	50952798	50952798	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:50952798C>T	ENST00000374103.4	-	13	1715	c.1629_splice	c.e13-1	p.E544_splice	OGDHL_ENST00000419399.1_Splice_Site_p.E487_splice|OGDHL_ENST00000432695.1_Splice_Site_p.E335_splice	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	544					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCAATTTCTTCCTGGAATCAG	0.527000													24	32					0	0	0.003330	0	0
SEC24B	10427	broad.mit.edu	37	4	110415979	110415979	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:110415979C>T	ENST00000265175.5	+	6	1510	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	SEC24B_ENST00000399100.2_Silent_p.N450N|SEC24B_ENST00000504968.2_Silent_p.N516N	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	485					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGCCCAGTAACCCGGTATATT	0.403000													41	56					0	0	0.011902	0	0
CELSR2	1952	broad.mit.edu	37	1	109795545	109795545	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:109795545C>T	ENST00000271332.3	+	1	2905	c.2844C>T	c.(2842-2844)ccC>ccT	p.P948P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	948	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCACTGACCCCGATGAAGGCA	0.557000													366	193					0	0	0.014410	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94639588	94639588	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:94639588T>G	ENST00000260526.6	-	23	3805	c.3623A>C	c.(3622-3624)gAc>gCc	p.D1208A		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1208					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTGTCTGGGTCTGGCATTGA	0.537000													26	2					0	0	0.005443	0	0
LZTR1	8216	broad.mit.edu	37	22	21340161	21340161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:21340161G>A	ENST00000215739.8	+	3	654	c.295G>A	c.(295-297)Gat>Aat	p.D99N	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Intron	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	99					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			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)			CCTGCGGTTCGATGTGAAAGA	0.597000													15	19					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9082466	9082466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9082466G>A	ENST00000397910.4	-	1	9552	c.9349C>T	c.(9349-9351)Cca>Tca	p.P3117S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3118	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						GTCTCAGATGGTGTGAAGGTT	0.478000													62	73					0	0	0.014410	0	0
TRIM38	10475	broad.mit.edu	37	6	25973439	25973439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:25973439C>T	ENST00000357085.3	+	7	1276	c.800C>T	c.(799-801)tCc>tTc	p.S267F	TRIM38_ENST00000349458.3_Missense_Mutation_p.S267F	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	267					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GAGGCTGTCTCCTTGGAACTT	0.403000													10	9					0	0	0.008291	0	0
ZNF845	91664	broad.mit.edu	37	19	53854516	53854516	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:53854516C>T	ENST00000458035.1	+	4	705	c.588C>T	c.(586-588)ttC>ttT	p.F196F	ZNF845_ENST00000595091.1_Silent_p.F196F	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGAATAATTTCCTGAATTCTT	0.363000													11	38					0	0	0.008291	0	0
KLKB1	3818	broad.mit.edu	37	4	187172668	187172668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:187172668G>A	ENST00000264690.6	+	9	1083	c.896G>A	c.(895-897)gGa>gAa	p.G299E	KLKB1_ENST00000513864.1_Missense_Mutation_p.G299E	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	299	Apple 4.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ATTTACCCGGGAGTTGACTTT	0.368000													40	87					0	0	0.013114	0	0
NLRP10	338322	broad.mit.edu	37	11	7982819	7982819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:7982819C>T	ENST00000328600.2	-	2	501	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	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													44	22					0	0	0.014410	0	0
ACADS	35	broad.mit.edu	37	12	121176362	121176362	+	Silent	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:121176362C>G	ENST00000242592.4	+	7	973	c.822C>G	c.(820-822)ggC>ggG	p.G274G	ACADS_ENST00000411593.2_Silent_p.G270G	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	274						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GCCGCATCGGCATCGCCTCCC	0.701000													46	107					0	0	0.014410	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21331610	21331610	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:21331610T>C	ENST00000256958.2	+	6	678	c.582T>C	c.(580-582)tcT>tcC	p.S194S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	194					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGGGGCTTTCTTACATTGATG	0.358000													35	9					0	0	0.004878	0	0
ELTD1	64123	broad.mit.edu	37	1	79383564	79383564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:79383564C>T	ENST00000370742.3	-	11	1696	c.1633G>A	c.(1633-1635)Gtt>Att	p.V545I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	545					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		GAAAATCCAACTACCACGGCT	0.373000													7	5					0	0	0.003080	0	0
OBSCN	84033	broad.mit.edu	37	1	228503767	228503767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:228503767G>A	ENST00000570156.2	+	61	16177	c.16103G>A	c.(16102-16104)cGg>cAg	p.R5368Q	OBSCN_ENST00000422127.1_Missense_Mutation_p.R4411Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4411Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1530Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2045Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4411					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACAGCTGCCGGGTGACCTTC	0.622000													6	2					0	0	0.001984	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927628	92927628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:92927628C>T	ENST00000373079.3	-	1	939	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	226	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCAGGAATTTCTTTAGGAACT	0.403000													32	32					0	0	0.003271	0	0
CRTC3	64784	broad.mit.edu	37	15	91182028	91182028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:91182028G>A	ENST00000420329.2	+	13	1676	c.1529G>A	c.(1528-1530)gGc>gAc	p.G510D	CRTC3_ENST00000268184.6_Missense_Mutation_p.G510D|RP11-387D10.2_ENST00000559531.1_RNA	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	510					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			ATGAGGCCAGGCCCTGCCTTT	0.488000			T	MAML2	salivary gland mucoepidermoid								37	32					0	0	0.013114	0	0
SARDH	1757	broad.mit.edu	37	9	136578194	136578194	+	Silent	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:136578194T>G	ENST00000371872.4	-	9	1460	c.1203A>C	c.(1201-1203)cgA>cgC	p.R401R	SARDH_ENST00000422262.2_Silent_p.R233R|SARDH_ENST00000439388.1_Silent_p.R401R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	401					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGAAGAACCCTCGGAGCTCAG	0.622000													5	14					0	0	0.000602	0	0
CHL1	10752	broad.mit.edu	37	3	369956	369956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:369956C>T	ENST00000256509.2	+	5	946	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	CHL1_ENST00000397491.2_Missense_Mutation_p.H102Y	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	102	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCACATATCTCACTTTCAAGG	0.403000													10	10					0	0	0.010729	0	0
POTEG	404785	broad.mit.edu	37	14	19553567	19553567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:19553567G>A	ENST00000409832.3	+	1	203	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	51										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACCACGACGATTCTGCTAT	0.602000													50	255					0	0	0.014410	0	0
CSMD2	114784	broad.mit.edu	37	1	34209029	34209029	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:34209029C>T	ENST00000373381.4	-	14	2201	c.2025G>A	c.(2023-2025)aaG>aaA	p.K675K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	635	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGCCCCATCCTTGATGACCA	0.617000													16	65					0	0	0.004007	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114078655	114078655	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:114078655T>C	ENST00000356501.4	-	6	713	c.538A>G	c.(538-540)Aag>Gag	p.K180E	ADPRHL1_ENST00000375418.3_Missense_Mutation_p.K262E	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	262					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GAGCTCCACTTCCTGTAGGTC	0.592000													22	23					0	0	0.003330	0	0
GPR22	2845	broad.mit.edu	37	7	107115426	107115426	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:107115426A>C	ENST00000304402.4	+	3	2264	c.921A>C	c.(919-921)agA>agC	p.R307S	COG5_ENST00000297135.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	307						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GACGAGAAAGACAAAAGAGAG	0.408000													5	8					0	0	0.001168	0	0
GMIP	51291	broad.mit.edu	37	19	19749274	19749274	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:19749274C>T	ENST00000203556.4	-	8	692	c.555G>A	c.(553-555)cgG>cgA	p.R185R	GMIP_ENST00000587238.1_Silent_p.R185R|GMIP_ENST00000445806.2_Silent_p.R185R	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	185					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAATCTCAGTCCGTTTGGCGG	0.597000													11	12					0	0	0.001855	0	0
SEC31A	22872	broad.mit.edu	37	4	83770029	83770029	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:83770029G>A	ENST00000432794.1	-	20	2593	c.2430C>T	c.(2428-2430)ccC>ccT	p.P810P	SEC31A_ENST00000448323.1_Silent_p.P810P|SEC31A_ENST00000508479.1_Silent_p.P810P|SEC31A_ENST00000443462.2_Silent_p.P805P|SEC31A_ENST00000500777.2_Silent_p.P771P|SEC31A_ENST00000264405.5_Silent_p.P543P|SEC31A_ENST00000348405.4_Silent_p.P771P|SEC31A_ENST00000395310.2_Silent_p.P810P|SEC31A_ENST00000311785.7_Silent_p.P810P|SEC31A_ENST00000509142.1_Silent_p.P810P|SEC31A_ENST00000505472.1_Silent_p.P810P|SEC31A_ENST00000326950.5_Silent_p.P771P|SEC31A_ENST00000508502.1_Silent_p.P810P|SEC31A_ENST00000505984.1_Silent_p.P771P|SEC31A_ENST00000513858.1_Silent_p.P771P|SEC31A_ENST00000355196.2_Silent_p.P810P			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	810	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GCCTGCCCTTGGGGAGCTGCT	0.488000													36	15					0	0	0.004289	0	0
FMN2	56776	broad.mit.edu	37	1	240255924	240255924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:240255924G>A	ENST00000319653.9	+	1	745	c.515G>A	c.(514-516)gGa>gAa	p.G172E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	172					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)			GCGCAGGATGGACAAAGGACC	0.632000													15	41					0	0	0.004007	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151054897	151054897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:151054897C>T	ENST00000367328.1	+	3	392	c.80C>T	c.(79-81)tCc>tTc	p.S27F	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.S27F	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	27					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGCCATGGTTCCTTCGGCAGC	0.527000													50	53					0	0	0.014410	0	0
CADM2	253559	broad.mit.edu	37	3	85935354	85935354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:85935354C>T	ENST00000383699.3	+	5	1033	c.406C>T	c.(406-408)Cct>Tct	p.P136S	CADM2_ENST00000405615.2_Missense_Mutation_p.P129S|CADM2_ENST00000407528.2_Missense_Mutation_p.P127S	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	127	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TCCTGAAAAGCCTCAGATTAG	0.388000													5	28					0	0	0.001984	0	0
PZP	5858	broad.mit.edu	37	12	9349707	9349707	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:9349707C>T	ENST00000261336.2	-	8	796	c.768G>A	c.(766-768)ggG>ggA	p.G256G	PZP_ENST00000381997.2_Silent_p.G125G	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGACAGGCTTCCCATAAGTGT	0.438000													27	17					0	0	0.010818	0	0
PER1	5187	broad.mit.edu	37	17	8046714	8046714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:8046714G>A	ENST00000317276.4	-	19	3179	c.2942C>T	c.(2941-2943)cCa>cTa	p.P981L	PER1_ENST00000581082.1_Missense_Mutation_p.P958L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	981	Pro-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAGCTGGAGTGGAGAGCTGCA	0.672000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					22	13					0	0	0.006320	0	0
DMRT3	58524	broad.mit.edu	37	9	990187	990187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:990187G>A	ENST00000190165.2	+	2	639	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	201					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGTGTCCGTGGAGGAAGGGGG	0.577000													5	27					0	0	0.000602	0	0
CCDC181	57821	broad.mit.edu	37	1	169391297	169391297	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:169391297C>T	ENST00000545005.1	-	4	879	c.372G>A	c.(370-372)agG>agA	p.R124R	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Silent_p.R124R|CCDC181_ENST00000367805.3_Silent_p.R124R					coiled-coil domain containing 181																		TAATATATCTCCTTACTTCCT	0.393000													26	8					0	0	0.006320	0	0
HRH1	3269	broad.mit.edu	37	3	11301138	11301138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:11301138C>T	ENST00000397056.1	+	3	606	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	HRH1_ENST00000438284.2_Missense_Mutation_p.R139C|HRH1_ENST00000431010.2_Missense_Mutation_p.R139C	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	139					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CCTTAAGTATCGTACCAAGAC	0.532000													66	36					0	0	0.014410	0	0
DMRT3	58524	broad.mit.edu	37	9	990288	990288	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:990288C>T	ENST00000190165.2	+	2	740	c.702C>T	c.(700-702)ggC>ggT	p.G234G		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	234					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TGATTGAGGGCCCCTCGGGGA	0.567000													25	19					0	0	0.005443	0	0
CDH10	1008	broad.mit.edu	37	5	24593569	24593569	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:24593569G>A	ENST00000264463.4	-	2	538	c.31C>T	c.(31-33)Cta>Tta	p.L11L	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	11					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACCCAGAATAGAAACAGTAGC	0.408000										HNSCC(23;0.051)			6	7					0	0	0.001984	0	0
NMUR2	56923	broad.mit.edu	37	5	151784030	151784030	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:151784030G>A	ENST00000255262.3	-	1	810	c.645C>T	c.(643-645)ttC>ttT	p.F215F	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	215					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CCTGGATGATGAAATTGTAGA	0.532000													60	67					0	0	0.014410	0	0
LPPR1	54886	broad.mit.edu	37	9	104048505	104048505	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:104048505C>T	ENST00000374874.3	+	4	811	c.372C>T	c.(370-372)atC>atT	p.I124I	LPPR1_ENST00000395056.2_Silent_p.I124I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		124						integral to membrane	catalytic activity										TTCGAAGGATCATAAGATTCA	0.373000													6	14					0	0	0.001984	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242742834	242742834	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:242742834C>T	ENST00000192314.6	+	4	581	c.450C>T	c.(448-450)tcC>tcT	p.S150S		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	150					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGGAGTCCTCCTTCATCTACT	0.632000													13	5					0	0	0.003163	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869144	36869144	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:36869144G>A	ENST00000279024.4	-	3	1660	c.1389C>T	c.(1387-1389)tcC>tcT	p.S463S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	463										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGGGCTCAGGGGAGGAGGTGT	0.567000													19	39					0	0	0.010504	0	0
NOP16	51491	broad.mit.edu	37	5	175811271	175811271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:175811271G>A	ENST00000510123.1	-	5	629	c.407C>T	c.(406-408)tCc>tTc	p.S136F	NOP16_ENST00000389158.5_Silent_p.F166F|NOP16_ENST00000507413.1_Missense_Mutation_p.P42S	NM_001256539.1|NM_001256540.1|NM_016391.5	NP_001243468.1|NP_001243469.1|NP_057475.2	Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	0						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AAGAATCGAGGAAGTCTTGCC	0.507000													24	31					0	0	0.003954	0	0
SOS2	6655	broad.mit.edu	37	14	50626283	50626283	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:50626283T>A	ENST00000216373.5	-	10	1992	c.1718A>T	c.(1717-1719)tAt>tTt	p.Y573F	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.Y540F	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	573					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TACAAAACGATATACTTCAGG	0.343000													37	60					0	0	0.007835	0	0
KLHL32	114792	broad.mit.edu	37	6	97562022	97562022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:97562022C>T	ENST00000369261.4	+	7	1354	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	KLHL32_ENST00000539200.1_Missense_Mutation_p.P262S|KLHL32_ENST00000536676.1_Missense_Mutation_p.P295S|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	331				P -> S (in Ref. 1; BAB70899).						breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGAGCTGGCTCCCATGCCTGT	0.562000													23	32					0	0	0.004656	0	0
SEPT14	346288	broad.mit.edu	37	7	55912397	55912397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:55912397C>T	ENST00000388975.3	-	4	306	c.190G>A	c.(190-192)Gga>Aga	p.G64R	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	64					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTCGATTTTCCAATTCCAGTC	0.343000													7	1					0	0	0.001984	0	0
SLC17A7	57030	broad.mit.edu	37	19	49933980	49933980	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:49933980C>T	ENST00000221485.3	-	12	1650	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	SLC17A7_ENST00000600601.1_Silent_p.E426E|SLC17A7_ENST00000543531.1_Silent_p.E481E	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	493					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		ACGGCTGCTTCTCTCCAGAAG	0.582000													27	33					0	0	0.006320	0	0
RPH3AL	9501	broad.mit.edu	37	17	177264	177264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:177264C>T	ENST00000323434.8	-	3	668	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	RPH3AL_ENST00000536489.2_Missense_Mutation_p.R24Q|RPH3AL_ENST00000331302.7_Missense_Mutation_p.R24Q	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	24					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TCACTTGGCTCGAAGGGCAAG	0.637000													11	31					0	0	0.013537	0	0
TLL2	7093	broad.mit.edu	37	10	98130031	98130031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:98130031G>A	ENST00000357947.3	-	20	2929	c.2704C>T	c.(2704-2706)Ctc>Ttc	p.L902F		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	902	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGGGAATAGAGCTCTTTGGTC	0.612000											OREG0020396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	31					0	0	0.010504	0	0
LAMB3	3914	broad.mit.edu	37	1	209823372	209823372	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:209823372A>T	ENST00000391911.1	-	2	509	c.120T>A	c.(118-120)ttT>ttA	p.F40L	LAMB3_ENST00000367030.3_Missense_Mutation_p.F40L|LAMB3_ENST00000356082.4_Missense_Mutation_p.F40L	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	40	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AAGCTCGGAGAAACCGGGTCC	0.607000													21	8					0	0	0.003330	0	0
MICAL3	57553	broad.mit.edu	37	22	18382265	18382265	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:18382265G>A	ENST00000441493.2	-	7	1249	c.897C>T	c.(895-897)ttC>ttT	p.F299F	MICAL3_ENST00000585038.1_Silent_p.F299F|MICAL3_ENST00000414725.2_Silent_p.F299F|MICAL3_ENST00000400561.2_Silent_p.F299F|MICAL3_ENST00000429452.1_Silent_p.F299F|MICAL3_ENST00000207726.7_Silent_p.F299F|MICAL3_ENST00000444520.1_Silent_p.F299F|MICAL3_ENST00000383094.3_Silent_p.F299F	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	299						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGTCATAACGAAATAGTGTG	0.413000													8	14					0	0	0.008291	0	0
HACL1	26061	broad.mit.edu	37	3	15628049	15628049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:15628049G>A	ENST00000321169.5	-	6	809	c.442C>T	c.(442-444)Cct>Tct	p.P148S	HACL1_ENST00000457447.2_Intron|HACL1_ENST00000456194.2_Missense_Mutation_p.P121S|HACL1_ENST00000451445.2_Intron|HACL1_ENST00000435217.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	148					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						ATAACAAAAGGAATAGCTTCT	0.338000													20	36					0	0	0.002780	0	0
CASR	846	broad.mit.edu	37	3	122001003	122001003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:122001003G>A	ENST00000498619.1	+	6	2120	c.1682G>A	c.(1681-1683)aGg>aAg	p.R561K	CASR_ENST00000490131.1_Missense_Mutation_p.R551K|CASR_ENST00000296154.5_Missense_Mutation_p.R551K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	551					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCAGGGACCAGGAAAGGGATC	0.587000													57	41					0	0	0.014410	0	0
TMEM2	23670	broad.mit.edu	37	9	74349902	74349902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:74349902G>A	ENST00000377044.4	-	6	1752	c.1213C>T	c.(1213-1215)Ctt>Ttt	p.L405F	TMEM2_ENST00000377066.5_Intron	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	405						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AATCCTGAAAGAGAAACGCCT	0.368000													28	22					0	0	0.004656	0	0
HAX1	10456	broad.mit.edu	37	1	154245822	154245822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:154245822C>T	ENST00000328703.7	+	2	277	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_Missense_Mutation_p.P22S|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	22	Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	p.P22S(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACAGAGATCCCTTTTTTGG	0.488000									Kostmann syndrome				60	34					0	0	0.014410	0	0
SPTA1	6708	broad.mit.edu	37	1	158604364	158604364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:158604364C>T	ENST00000368148.3	-	39	5714	c.5534G>A	c.(5533-5535)gGa>gAa	p.G1845E	SPTA1_ENST00000368147.3_Missense_Mutation_p.G1845E|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1845					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCACAATCTCCTCGGACAGC	0.403000													26	66					0	0	0.006320	0	0
MYBPC1	4604	broad.mit.edu	37	12	102038561	102038561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:102038561C>T	ENST00000549145.1	+	11	1016	c.916C>T	c.(916-918)Cga>Tga	p.R306*	MYBPC1_ENST00000550270.1_Nonsense_Mutation_p.R293*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.R293*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.R293*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.R279*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.R293*|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.R293*|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.R281*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.R274*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.R293*|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.R280*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.R194*|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.R267*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.R318*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.R318*			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	293	Ig-like C2-type 2.			HKGCQRILFIN -> DTRCQSILNID (in Ref. 1; CAA46987).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCAAGAAATTCGACCCAGTAC	0.398000													10	4					0	0	0.008291	0	0
CCNB3	85417	broad.mit.edu	37	X	50085299	50085299	+	Silent	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:50085299C>A	ENST00000376042.1	+	9	3913	c.3615C>A	c.(3613-3615)ctC>ctA	p.L1205L	CCNB3_ENST00000276014.7_Silent_p.L1205L|CCNB3_ENST00000376038.1_Silent_p.L101L|CCNB3_ENST00000348603.2_Silent_p.L101L			Q8WWL7	CCNB3_HUMAN	cyclin B3	1205					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGTTACAACTCCTTGGTGCCA	0.463000													39	3					4.67007e-22	6.27343e-22	0.008740	1	0
ISM2	145501	broad.mit.edu	37	14	77950775	77950775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:77950775C>T	ENST00000393684.3	-	4	645	c.254G>A	c.(253-255)gGg>gAg	p.G85E	ISM2_ENST00000429906.1_Missense_Mutation_p.G92E|ISM2_ENST00000412904.1_Intron|ISM2_ENST00000342219.4_Missense_Mutation_p.G173E|ISM2_ENST00000493585.1_Missense_Mutation_p.G173E			Q6H9L7	ISM2_HUMAN	isthmin 2	173						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CGTGGCATTCCCTGGGGTCAG	0.602000													31	44					0	0	0.012213	0	0
PRKCQ	5588	broad.mit.edu	37	10	6533674	6533674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:6533674C>T	ENST00000263125.5	-	8	860	c.761G>A	c.(760-762)gGa>gAa	p.G254E	PRKCQ_ENST00000539722.1_Missense_Mutation_p.G129E|PRKCQ_ENST00000397176.2_Missense_Mutation_p.G254E	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	254					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CCGTGCCAGTCCCCACAGCAG	0.537000													15	17					0	0	0.006122	0	0
SHROOM3	57619	broad.mit.edu	37	4	77676343	77676343	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:77676343C>T	ENST00000296043.6	+	7	5660	c.4707C>T	c.(4705-4707)ccC>ccT	p.P1569P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1569					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCCACGCCCCAGGTGAGTGA	0.612000													3	2					0	0	0.009096	0	0
CASZ1	54897	broad.mit.edu	37	1	10702960	10702960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:10702960C>T	ENST00000377022.3	-	20	4435	c.4118G>A	c.(4117-4119)cGg>cAg	p.R1373Q	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGAGCAGCTCCGGTCCATGGT	0.672000													21	7					0	0	0.010504	0	0
CYP7B1	9420	broad.mit.edu	37	8	65517283	65517283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:65517283G>A	ENST00000310193.3	-	5	1362	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	397					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGGACTGGAGGAAAGATGGCT	0.463000													16	32					0	0	0.008871	0	0
IKZF3	22806	broad.mit.edu	37	17	37988405	37988405	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:37988405C>T	ENST00000346872.3	-	2	69		c.e2-1		IKZF3_ENST00000467757.1_Splice_Site|IKZF3_ENST00000377945.3_Splice_Site|IKZF3_ENST00000439167.2_Splice_Site|IKZF3_ENST00000439016.2_Splice_Site|IKZF3_ENST00000394189.2_Splice_Site|IKZF3_ENST00000377958.2_Splice_Site|IKZF3_ENST00000350532.3_Splice_Site|IKZF3_ENST00000377944.3_Splice_Site|IKZF3_ENST00000346243.3_Splice_Site|IKZF3_ENST00000377952.2_Splice_Site|IKZF3_ENST00000535189.1_Splice_Site|IKZF3_ENST00000351680.3_Splice_Site	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)						B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTTTGTATATCTGAAAAGAAA	0.363000													11	18					0	0	0.013537	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465432	77465432	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:77465432C>T	ENST00000282849.5	-	3	673	c.255G>A	c.(253-255)agG>agA	p.R85R	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	85					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATCGCTTTTTCCTGCCGTTGT	0.478000													122	11					0	0	0.014410	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189510	167189510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:167189510G>A	ENST00000476257.1	-	3	411	c.113C>T	c.(112-114)tCc>tTc	p.S38F	SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S38F|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S38F|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S38F			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	38					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATGAGATAAGGAAACCTCTTG	0.393000													4	23					0	0	0.009096	0	0
E4F1	1877	broad.mit.edu	37	16	2285285	2285285	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:2285285C>T	ENST00000301727.4	+	14	2115	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	E4F1_ENST00000565090.1_Silent_p.I512I|E4F1_ENST00000564139.1_3'UTR	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	689					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						ACCAGATCATCGTGCAGAACG	0.662000													32	34					0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179416710	179416710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179416710C>T	ENST00000589042.1	-	335	91141	c.90917G>A	c.(90916-90918)gGa>gAa	p.G30306E	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G21241E|TTN_ENST00000359218.5_Missense_Mutation_p.G21366E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21433E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27738E|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G28665E|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28665	Fibronectin type-III 121.						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)			TTGGCTGACTCCGTATCTGTT	0.433000													30	20					0	0	0.008361	0	0
CEP112	201134	broad.mit.edu	37	17	64059110	64059110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:64059110C>T	ENST00000392769.2	-	11	1263	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	CEP112_ENST00000541355.1_5'UTR|CEP112_ENST00000535342.2_Missense_Mutation_p.E349K|CEP112_ENST00000537949.1_Missense_Mutation_p.E307K	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	349						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTTAGAGATTCCGTACTTTGT	0.313000													14	22					0	0	0.002450	0	0
SLFN12	55106	broad.mit.edu	37	17	33747358	33747358	+	Missense_Mutation	SNP	G	G	C	rs147654371	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:33747358G>C	ENST00000394562.1	-	5	1605	c.1082C>G	c.(1081-1083)aCg>aGg	p.T361R	SLFN12_ENST00000304905.5_Missense_Mutation_p.T361R|SLFN12_ENST00000452764.3_Missense_Mutation_p.T361R|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	361				T -> A (in Ref. 1; BAA91512).			ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTAATGACGTATTTATTTG	0.398000													17	19					0	0	0.012319	0	0
VAV2	7410	broad.mit.edu	37	9	136637129	136637129	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:136637129C>T	ENST00000371851.1	-	24	2470	c.2145G>A	c.(2143-2145)aaG>aaA	p.K715K	VAV2_ENST00000406606.3_Silent_p.K715K|VAV2_ENST00000371850.3_Silent_p.K725K			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	725	SH2.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCCAGTTGTCCTTCTCCACCA	0.627000													61	52					0	0	0.014410	0	0
CLIC5	53405	broad.mit.edu	37	6	45917092	45917092	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:45917092G>T	ENST00000185206.6	-	3	829	c.677C>A	c.(676-678)gCc>gAc	p.A226D	CLIC5_ENST00000339561.6_Missense_Mutation_p.A67D|CLIC5_ENST00000544153.1_Missense_Mutation_p.A67D	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	226					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CGTGCCGGGGGCTAGGTTGTG	0.542000													46	38					4.10826e-27	5.52619e-27	0.014410	1	0
OR8S1	341568	broad.mit.edu	37	12	48921816	48921816	+	Missense_Mutation	SNP	C	C	T	rs111309347		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:48921816C>T	ENST00000310194.1	+	2	1010	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	337					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						CTGAGCATTCCGGTCACGCCT	0.672000													10	6					0	0	0.006214	0	0
OSM	5008	broad.mit.edu	37	22	30660431	30660431	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:30660431A>G	ENST00000215781.2	-	3	240	c.200T>C	c.(199-201)gTt>gCt	p.V67A	OSM_ENST00000403389.1_Missense_Mutation_p.V46A|OSM_ENST00000403463.1_Silent_p.C19C	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	67					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			CAGTTTAGGAACATCCAGGCC	0.597000													15	14					0	0	0.004007	0	0
DDX25	29118	broad.mit.edu	37	11	125778306	125778306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:125778306C>T	ENST00000263576.6	+	6	570	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	139	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		ACCCCAGAACCTCATAGCACA	0.428000													37	91					0	0	0.007835	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697900	17697900	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:17697900T>G	ENST00000399080.2	-	1	1806	c.1783A>C	c.(1783-1785)Aca>Cca	p.T595P		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	595										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCAATTCTTGTTAAAGAGTCA	0.269000													6	13					0	0	0.001984	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110396348	110396348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:110396348G>A	ENST00000378402.5	+	5	571	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	156	IPT/TIG 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTTTATCTGGAACTCCAGGT	0.289000										HNSCC(38;0.096)			43	30					0	0	0.014410	0	0
ODF3L2	284451	broad.mit.edu	37	19	474625	474625	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:474625C>T	ENST00000315489.4	-	1	358	c.123G>A	c.(121-123)gaG>gaA	p.E41E	ODF3L2_ENST00000382696.3_Silent_p.E41E	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	41										large_intestine(1)|lung(2)	3						ACGCACCGTTCTCCAGGGTGG	0.677000													9	15					0	0	0.008291	0	0
FLNB	2317	broad.mit.edu	37	3	58156328	58156328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:58156328C>T	ENST00000295956.4	+	46	7813	c.7648C>T	c.(7648-7650)Cat>Tat	p.H2550Y	FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000429972.2_Missense_Mutation_p.H2539Y|FLNB_ENST00000419752.2_Missense_Mutation_p.H2370Y|FLNB_ENST00000493452.1_Missense_Mutation_p.H2357Y|FLNB_ENST00000490882.1_Missense_Mutation_p.H2581Y|FLNB_ENST00000358537.3_Missense_Mutation_p.H2526Y|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.H2509Y	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2550	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GATCGGGGTCCATGGGCCCAC	0.557000													8	20					0	0	0.004482	0	0
ATP11C	286410	broad.mit.edu	37	X	138901537	138901537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:138901537C>T	ENST00000370557.1	-	3	1224	c.197G>A	c.(196-198)aGa>aAa	p.R66K	ATP11C_ENST00000327569.3_Missense_Mutation_p.R69K|ATP11C_ENST00000361648.2_Missense_Mutation_p.R69K|ATP11C_ENST00000359686.2_Missense_Mutation_p.R69K|ATP11C_ENST00000370543.1_Missense_Mutation_p.R69K			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	69					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATTTGCAATTCTTCTAAACTG	0.303000													23	1					0	0	0.008361	0	0
ZNF213	7760	broad.mit.edu	37	16	3190892	3190892	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:3190892C>T	ENST00000396878.3	+	6	1399	c.924C>T	c.(922-924)ttC>ttT	p.F308F	ZNF213_ENST00000576416.1_Silent_p.F308F|ZNF213_ENST00000416391.2_Silent_p.F150F|ZNF213_ENST00000574902.1_Silent_p.F308F	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	308					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GGCGCCAGTTCCGGGACCTGG	0.761000													5	2					0	0	0.001168	0	0
WDFY1	57590	broad.mit.edu	37	2	224759028	224759028	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:224759028G>T	ENST00000233055.4	-	8	856	c.754C>A	c.(754-756)Cag>Aag	p.Q252K		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	252						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CTGGTGAGCTGAAGGTAGCAC	0.517000													7	29					0.000442599	0.0005849	0.006214	1	0
CHRM2	1129	broad.mit.edu	37	7	136699995	136699995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:136699995C>T	ENST00000445907.2	+	3	911	c.383C>T	c.(382-384)cCt>cTt	p.P128L	CHRM2_ENST00000397608.3_Missense_Mutation_p.P128L|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.P128L|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.P128L|CHRM2_ENST00000453373.1_Missense_Mutation_p.P128L|CHRM2_ENST00000320658.5_Missense_Mutation_p.P128L|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	128					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTCACAAAACCTCTGACCTAC	0.502000													4	2					0	0	0.009096	0	0
FMNL2	114793	broad.mit.edu	37	2	153475482	153475482	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:153475482G>A	ENST00000288670.9	+	14	1804	c.1437G>A	c.(1435-1437)ggG>ggA	p.G479G		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	479					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGAAACAAGGGACCATTAAAA	0.418000													18	40					0	0	0.010504	0	0
ABT1	29777	broad.mit.edu	37	6	26598804	26598804	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:26598804G>A	ENST00000274849.1	+	3	781	c.750G>A	c.(748-750)ctG>ctA	p.L250L		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	250					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						AAGGGCTCCTGGCCAGGATCT	0.657000													13	18					0	0	0.001855	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634062	70634062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:70634062G>A	ENST00000381269.2	-	2	1831	c.1078C>T	c.(1078-1080)Cgt>Tgt	p.R360C	SLC8A3_ENST00000534137.1_Missense_Mutation_p.R360C|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R360C|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R360C|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R360C	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	360					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTCATCATACGAGTGGCTTGG	0.522000													38	40					0	0	0.003755	0	0
PKLR	5313	broad.mit.edu	37	1	155263257	155263257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:155263257G>A	ENST00000392414.3	-	8	1261	c.1148C>T	c.(1147-1149)cCt>cTt	p.P383L	PKLR_ENST00000342741.4_Missense_Mutation_p.P414L	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	414					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CGCTTCCACAGGGAAGTTGCC	0.587000													7	20					0	0	0.003080	0	0
HS1BP3	64342	broad.mit.edu	37	2	20824493	20824493	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:20824493G>A	ENST00000304031.3	-	5	808	c.784_splice	c.e5+1	p.D261_splice		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	261					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTACTTACGGTCCACGGATG	0.617000													17	19					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9074295	9074295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9074295C>T	ENST00000397910.4	-	3	13354	c.13151G>A	c.(13150-13152)gGa>gAa	p.G4384E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4386	Ser-rich.|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						GATGGTCACTCCTGAAGATTC	0.463000													29	29					0	0	0.010818	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728219	50728219	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:50728219C>A	ENST00000449103.1	-	3	935	c.795G>T	c.(793-795)caG>caT	p.Q265H	PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q265H			O15031	PLXB2_HUMAN	plexin B2	265	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTCCCGGCACTGCAGGTCCA	0.647000													11	20					2.27111e-07	3.01429e-07	0.013537	1	0
BAI3	577	broad.mit.edu	37	6	69348921	69348921	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:69348921C>T	ENST00000370598.1	+	3	1175	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	118	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAATGCTTTCGTTTTTCTAC	0.308000													20	17					0	0	0.007413	0	0
CNGA1	1259	broad.mit.edu	37	4	47945274	47945274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:47945274C>T	ENST00000402813.3	-	7	722	c.580G>A	c.(580-582)Gac>Aac	p.D194N	CNGA1_ENST00000358519.4_Missense_Mutation_p.D125N|CNGA1_ENST00000514170.1_Missense_Mutation_p.D125N|CNGA1_ENST00000420489.2_Missense_Mutation_p.D125N|CNGA1_ENST00000544810.1_Missense_Mutation_p.D125N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	125					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ttctctGGGTCGTTTTTATTT	0.313000													4	2					0	0	0.009096	0	0
APOB	338	broad.mit.edu	37	2	21260128	21260128	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:21260128C>T	ENST00000233242.1	-	6	665		c.e6-1		APOB_ENST00000399256.4_Splice_Site	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B						cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACACGGTATCCTATGGAGGAA	0.498000													113	170					0	0	0.014410	0	0
STYK1	55359	broad.mit.edu	37	12	10783813	10783813	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:10783813G>A	ENST00000075503.3	-	5	802	c.282C>T	c.(280-282)aaC>aaT	p.N94N		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	94						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTCCCAGAAAGTTTTCCACGG	0.557000										HNSCC(73;0.22)			18	29					0	0	0.006122	0	0
PPM1F	9647	broad.mit.edu	37	22	22277638	22277638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:22277638G>A	ENST00000407142.1	-	6	1748	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	PPM1F_ENST00000538191.1_Missense_Mutation_p.R294W|PPM1F_ENST00000263212.5_Missense_Mutation_p.R398W			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	398					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CCCCGCTCCCGGGCCGCAGCC	0.687000													23	25					0	0	0.004656	0	0
HYAL1	3373	broad.mit.edu	37	3	50339964	50339964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:50339964C>T	ENST00000266031.4	-	1	1039	c.424G>A	c.(424-426)Gac>Aac	p.D142N	HYAL1_ENST00000457214.2_5'UTR|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395143.2_Missense_Mutation_p.D142N|HYAL1_ENST00000395144.2_Missense_Mutation_p.D142N|HYAL1_ENST00000320295.8_Missense_Mutation_p.D142N			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	142						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	TCCTTGGTGTCCCAGTTGAAG	0.617000													26	104					0	0	0.012213	0	0
DGKK	139189	broad.mit.edu	37	X	50111971	50111971	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:50111971C>T	ENST00000376025.2	-	0	3842							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTTAGAGGATCATCACCCTCT	0.398000													15	1					0	0	0.007413	0	0
HYDIN	54768	broad.mit.edu	37	16	70891707	70891707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:70891707C>T	ENST00000393567.2	-	72	12346	c.12196G>A	c.(12196-12198)Gag>Aag	p.E4066K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4066										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTGTGCTCGGGAATTAGG	0.468000													10	14					0	0	0.002450	0	0
RNF216	54476	broad.mit.edu	37	7	5662660	5662660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:5662660G>A	ENST00000425013.2	-	17	2656	c.2432C>T	c.(2431-2433)cCc>cTc	p.P811L	RNF216_ENST00000389902.3_Missense_Mutation_p.P868L|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	811	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGGCCGCACGGGAGGCAGGGG	0.652000													62	2					0	0	0.014410	0	0
CORO1A	11151	broad.mit.edu	37	16	30198142	30198142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:30198142G>A	ENST00000219150.5	+	4	632	c.327G>A	c.(325-327)tgG>tgA	p.W109*	CORO1A_ENST00000570045.1_Nonsense_Mutation_p.W109*|CORO1A_ENST00000565497.1_Nonsense_Mutation_p.W109*	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	109					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						TGCAGGTGTGGGAGATCCCAG	0.652000													21	19					0	0	0.003954	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123215755	123215755	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:123215755G>A	ENST00000349780.4	-	21	2951	c.2772C>T	c.(2770-2772)tcC>tcT	p.S924S	CDK5RAP2_ENST00000360190.4_Silent_p.S924S|CDK5RAP2_ENST00000359309.3_Silent_p.S924S|CDK5RAP2_ENST00000360822.3_Silent_p.S892S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	924					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TACCAGGGAGGGAAAGGAGGG	0.463000													25	64					0	0	0.003954	0	0
OR2A25	392138	broad.mit.edu	37	7	143772038	143772038	+	Silent	SNP	C	C	T	rs143437637	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:143772038C>T	ENST00000408898.2	+	1	764	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCTGCTCCTCCCACCTCTGTG	0.468000													54	58					0	0	0.014410	0	0
NPAT	4863	broad.mit.edu	37	11	108058825	108058825	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:108058825C>T	ENST00000278612.8	-	7	743	c.638_splice	c.e7+1	p.S213_splice		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	213	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAGCATTTACCTTTTGCGTCT	0.343000													37	36					0	0	0.006999	0	0
NAV2	89797	broad.mit.edu	37	11	20077471	20077471	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:20077471G>T	ENST00000396085.1	+	19	5160	c.4799G>T	c.(4798-4800)cGt>cTt	p.R1600L	NAV2_ENST00000540292.1_Missense_Mutation_p.R1554L|NAV2_ENST00000396087.3_Missense_Mutation_p.R1623L|NAV2_ENST00000311043.8_Missense_Mutation_p.R664L|NAV2_ENST00000527559.2_Missense_Mutation_p.R1552L|NAV2_ENST00000349880.4_Missense_Mutation_p.R1600L|NAV2_ENST00000360655.4_Missense_Mutation_p.R1536L|NAV2_ENST00000533917.1_Missense_Mutation_p.R664L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1623	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCATGAGCCGTTCAGGCTCA	0.502000													12	10					5.16669e-11	6.89641e-11	0.010729	1	0
MYBBP1A	10514	broad.mit.edu	37	17	4455508	4455508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4455508G>A	ENST00000254718.4	-	7	1123	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R273C			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	273	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGTGCCAGGCGGAGCAGGTCC	0.617000													25	18					0	0	0.005443	0	0
SCNN1D	6339	broad.mit.edu	37	1	1225748	1225748	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:1225748C>G	ENST00000338555.2	+	10	2412	c.1268C>G	c.(1267-1269)tCt>tGt	p.S423C	SCNN1D_ENST00000325425.8_Missense_Mutation_p.S489C|SCNN1D_ENST00000400928.3_Missense_Mutation_p.S423C|SCNN1D_ENST00000379116.5_Missense_Mutation_p.S587C					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TACTGCAGCTCTGCCCGGCAC	0.667000													15	35					0	0	0.006122	0	0
NID2	22795	broad.mit.edu	37	14	52485933	52485933	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:52485933G>A	ENST00000216286.5	-	14	2873	c.2874C>T	c.(2872-2874)ttC>ttT	p.F958F	NID2_ENST00000541773.1_Silent_p.F857F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	958	Thyroglobulin type-1 1.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGGGATGTGGAACCGGGCCC	0.602000													20	3					0	0	0.014323	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279584	47279584	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:47279584G>A	ENST00000271153.4	+	6	657	c.620_splice	c.e6-1	p.R207_splice	CYP4B1_ENST00000371919.4_Silent_p.R193R|CYP4B1_ENST00000452782.2_Silent_p.R45R|CYP4B1_ENST00000371923.4_Silent_p.R208R			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	207					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGCTTAGCAGGGACAGCAGCT	0.542000													21	101					0	0	0.012319	0	0
EPB41	2035	broad.mit.edu	37	1	29379656	29379656	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:29379656T>C	ENST00000343067.4	+	12	1804	c.1677T>C	c.(1675-1677)acT>acC	p.T559T	EPB41_ENST00000356093.2_Silent_p.T559T|EPB41_ENST00000347529.3_Silent_p.T524T|EPB41_ENST00000373797.1_Silent_p.T559T|EPB41_ENST00000373798.1_Silent_p.T559T|EPB41_ENST00000373800.3_Silent_p.T350T|EPB41_ENST00000349460.4_Silent_p.T350T|EPB41_ENST00000398863.2_Silent_p.T559T	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	559	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CTCGGCCCACTTCTGCACCTG	0.493000													11	38					0	0	0.013537	0	0
SORL1	6653	broad.mit.edu	37	11	121498415	121498415	+	Silent	SNP	C	C	T	rs12270682		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:121498415C>T	ENST00000260197.7	+	47	6645	c.6516C>T	c.(6514-6516)ttC>ttT	p.F2172F	SORL1_ENST00000534286.1_Silent_p.F1082F|SORL1_ENST00000525532.1_Silent_p.F1116F|SORL1_ENST00000527934.1_Silent_p.F787F|SORL1_ENST00000532694.1_Silent_p.F1018F	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2172					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCACCGCCTTCGCCAACAGCC	0.612000													16	22					0	0	0.008871	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12832316	12832316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:12832316C>T	ENST00000379672.5	+	7	835	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.L179F|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.L179F	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	179	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GGCTGATGCCCTCAGGGAAGA	0.552000													6	5					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	8976423	8976423	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:8976423C>T	ENST00000397910.4	-	75	42608	c.42405G>A	c.(42403-42405)aaG>aaA	p.K14135K	MUC16_ENST00000380951.5_Silent_p.K776K|MUC16_ENST00000596956.1_Intron	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14166	SEA 14.			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						CTGCCCCATCCTTCTCAGGCC	0.612000													5	12					0	0	0.000602	0	0
PDP1	54704	broad.mit.edu	37	8	94934619	94934619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:94934619G>A	ENST00000396200.3	+	3	683	c.407G>A	c.(406-408)gGa>gAa	p.G136E	PDP1_ENST00000520728.1_Missense_Mutation_p.G111E|PDP1_ENST00000517764.1_Missense_Mutation_p.G111E|PDP1_ENST00000297598.4_Missense_Mutation_p.G111E	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	111					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TCTATCCTTGGATTTGACAGC	0.448000													33	18					0	0	0.010818	0	0
HOOK1	51361	broad.mit.edu	37	1	60314036	60314036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:60314036C>T	ENST00000371208.3	+	11	1236	c.979C>T	c.(979-981)Cgt>Tgt	p.R327C	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.R285C	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	327	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TGAGATATATCGTCAGAAGCT	0.353000													9	3					0	0	0.008291	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146238	70146238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:70146238C>T	ENST00000335568.5	+	1	22	c.20C>T	c.(19-21)tCa>tTa	p.S7L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.S7L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	7					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAGTGGACTTCAGTTCTTCTG	0.403000													9	9					0	0	0.010729	0	0
MADD	8567	broad.mit.edu	37	11	47311486	47311486	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:47311486A>G	ENST00000342922.4	+	17	3182	c.2825A>G	c.(2824-2826)aAc>aGc	p.N942S	MADD_ENST00000406482.1_Missense_Mutation_p.N899S|MADD_ENST00000311027.5_Missense_Mutation_p.N962S|MADD_ENST00000395344.3_Missense_Mutation_p.N899S|MADD_ENST00000402799.1_Missense_Mutation_p.N899S|MADD_ENST00000395336.3_Missense_Mutation_p.N962S|MADD_ENST00000402192.2_Missense_Mutation_p.N942S|MADD_ENST00000407859.3_Missense_Mutation_p.N919S|MADD_ENST00000349238.3_Missense_Mutation_p.N962S	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	962					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GGCTGGCTCAACATGAAAAAG	0.602000													16	7					0	0	0.004007	0	0
NHP2L1	4809	broad.mit.edu	37	22	42071061	42071061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:42071061G>A	ENST00000401959.1	-	4	579	c.263C>T	c.(262-264)gCc>gTc	p.A88V	NHP2L1_ENST00000402458.1_Missense_Mutation_p.A92V|NHP2L1_ENST00000355257.3_Missense_Mutation_p.A88V|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.A88V	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	88					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TCTCCCCAGGGCCTGCTTGGA	0.577000													30	42					0	0	0.003271	0	0
KANK4	163782	broad.mit.edu	37	1	62739650	62739650	+	Missense_Mutation	SNP	C	C	T	rs149755007		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:62739650C>T	ENST00000371153.4	-	3	1504	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	376								p.E376K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTTTGATTTCCTCTTCCTGC	0.542000													18	78					0	0	0.012319	0	0
CDHR1	92211	broad.mit.edu	37	10	85974289	85974289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:85974289C>T	ENST00000372117.3	+	17	2595	c.2492C>T	c.(2491-2493)aCt>aTt	p.T831I	CDHR1_ENST00000440770.2_Missense_Mutation_p.T535I|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	831					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AAACCCAAAACTATGGGAAGC	0.567000													37	29					0	0	0.006999	0	0
PLCG2	5336	broad.mit.edu	37	16	81971414	81971414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:81971414G>A	ENST00000359376.3	+	28	3318	c.3104G>A	c.(3103-3105)gGc>gAc	p.G1035D		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1035	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGGCGCACGGGCTACGTTCTG	0.522000													21	0					0	0	0.014323	0	0
GLT8D1	55830	broad.mit.edu	37	3	52734291	52734291	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:52734291C>T	ENST00000407584.3	-	4	952	c.102G>A	c.(100-102)agG>agA	p.R34R	GLT8D1_ENST00000266014.5_Silent_p.R34R|GLT8D1_ENST00000478968.2_Silent_p.R34R|GLT8D1_ENST00000394783.3_Silent_p.R34R|GLT8D1_ENST00000491606.1_Silent_p.R34R	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	34						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TAACCTCATTCCTTAACAAAC	0.423000													12	33					0	0	0.001855	0	0
KIAA0319	9856	broad.mit.edu	37	6	24551711	24551711	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:24551711G>A	ENST00000535378.1	-	21	3606	c.2964C>T	c.(2962-2964)atC>atT	p.I988I	KIAA0319_ENST00000430948.2_Silent_p.I952I|KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000543707.1_Silent_p.I997I|KIAA0319_ENST00000378214.3_Silent_p.I997I	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	997					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGTTATCCAGGATGGTGTACT	0.388000													9	22					0	0	0.004482	0	0
TCEB3CL	728929	broad.mit.edu	37	18	44549171	44549171	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:44549171G>A	ENST00000451265.1	-	1	1363	c.1128C>T	c.(1126-1128)taC>taT	p.Y376Y	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						TCTCTGTGCGGTACGGCTGAT	0.577000													13	194					0	0	0.012319	0	0
STAG1	10274	broad.mit.edu	37	3	136162195	136162195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:136162195C>T	ENST00000383202.2	-	15	1736	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	STAG1_ENST00000536929.1_Missense_Mutation_p.E78K|STAG1_ENST00000434713.2_Missense_Mutation_p.E268K|STAG1_ENST00000236698.5_Missense_Mutation_p.E494K	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	494					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCAACAGTTCTTGAGAGCTC	0.343000													12	43					0	0	0.003163	0	0
FAM71A	149647	broad.mit.edu	37	1	212799950	212799950	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:212799950G>A	ENST00000294829.3	+	1	2162	c.1731G>A	c.(1729-1731)acG>acA	p.T577T	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	577			T -> M (in dbSNP:rs3795842).							breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGCTGGAGACGGTTGGTTCTA	0.567000													20	84					0	0	0.010504	0	0
PCDH1	5097	broad.mit.edu	37	5	141244782	141244782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:141244782G>A	ENST00000287008.3	-	3	1261	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Nonsense_Mutation_p.Q350*|PCDH1_ENST00000394536.3_Nonsense_Mutation_p.Q372*|PCDH1_ENST00000456271.1_Nonsense_Mutation_p.Q360*|PCDH1_ENST00000511044.1_5'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	372	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACAACCACCTGGGCACGGGCA	0.572000													51	64					0	0	0.014410	0	0
HSPA4L	22824	broad.mit.edu	37	4	128744729	128744729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:128744729G>A	ENST00000296464.3	+	16	2407	c.1996G>A	c.(1996-1998)Gga>Aga	p.G666R	HSPA4L_ENST00000508776.1_Missense_Mutation_p.G666R|HSPA4L_ENST00000505726.1_Missense_Mutation_p.G640R|HSPA4L_ENST00000439123.2_Missense_Mutation_p.G697R	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	666					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						TTATGAAGACGGAGAGGACCA	0.318000													15	28					0	0	0.007413	0	0
BTNL8	79908	broad.mit.edu	37	5	180377460	180377460	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:180377460A>G	ENST00000340184.4	+	8	1625	c.1419A>G	c.(1417-1419)caA>caG	p.Q473Q	BTNL8_ENST00000511704.1_Silent_p.Q357Q|BTNL8_ENST00000533815.2_Silent_p.Q289Q|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Silent_p.Q266Q|BTNL8_ENST00000400707.3_Silent_p.Q348Q|BTNL8_ENST00000508408.1_3'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	473						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCTTGGCAAAGGGCCTCTG	0.522000													57	64					0	0	0.014410	0	0
ITGA1	3672	broad.mit.edu	37	5	52145236	52145236	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:52145236G>A	ENST00000282588.6	+	2	557	c.99G>A	c.(97-99)gtG>gtA	p.V33V		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	33					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ATGTTGATGTGAAAAATTCAA	0.368000													21	17					0	0	0.014323	0	0
VAV1	7409	broad.mit.edu	37	19	6820742	6820742	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:6820742C>T	ENST00000304076.2	+	2	328	c.234C>T	c.(232-234)ttC>ttT	p.F78F	VAV1_ENST00000539284.1_Silent_p.F13F|VAV1_ENST00000602142.1_Silent_p.F78F|VAV1_ENST00000599806.1_Silent_p.F23F|VAV1_ENST00000596764.1_Silent_p.F78F	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	78	CH.|Leu-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TTAGAACCTTCCTGTCCACCT	0.552000													22	98					0	0	0.003330	0	0
CCNL2	81669	broad.mit.edu	37	1	1330820	1330820	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:1330820A>G	ENST00000400809.3	-	4	553	c.548T>C	c.(547-549)gTt>gCt	p.V183A	CCNL2_ENST00000408918.4_Missense_Mutation_p.V183A|CCNL2_ENST00000408952.5_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	183	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	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;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CTCTTTGAGAACTCGTCTTTC	0.532000													21	11					0	0	0.008871	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98848646	98848646	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:98848646G>A	ENST00000554295.1	-	0	2277					NR_033801.1																						AGGGTTTGCAGGGAAAGTCAA	0.527000													3	0					0	0	0.004672	0	0
EHD2	30846	broad.mit.edu	37	19	48229070	48229070	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:48229070C>T	ENST00000263277.3	+	4	755	c.502_splice	c.e4-1	p.G168_splice	CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Splice_Site_p.G32_splice	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	168					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CCACTCCAGGCTACGACTTCC	0.587000													13	14					0	0	0.003163	0	0
CLSTN2	64084	broad.mit.edu	37	3	140140054	140140054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:140140054C>T	ENST00000458420.3	+	5	915	c.725C>T	c.(724-726)cCc>cTc	p.P242L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	242	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGACAGAAGCCCGCTGCTCAG	0.542000										HNSCC(16;0.037)			64	34					0	0	0.014410	0	0
PTRHD1	391356	broad.mit.edu	37	2	25016001	25016001	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:25016001G>A	ENST00000328379.4	-	1	250	c.246C>T	c.(244-246)gtC>gtT	p.V82V		NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	82					translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						TCACCTCGAGGACCACTTTGC	0.687000													13	14					0	0	0.001855	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713800	142713800	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:142713800C>T	ENST00000369381.2	-	0	805																											GTGCATATTTCCTGTCTGAGT	0.274000													8	7					0	0	0.006214	0	0
SLC25A20	788	broad.mit.edu	37	3	48896532	48896532	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:48896532G>A	ENST00000319017.4	-	7	909	c.711C>T	c.(709-711)ttC>ttT	p.F237F	SLC25A20_ENST00000430379.1_Silent_p.F164F|SLC25A20_ENST00000544097.1_Silent_p.F187F	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	237					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CACCAGTCTGGAATCGAGACT	0.587000													6	19					0	0	0.003080	0	0
ELF5	2001	broad.mit.edu	37	11	34501801	34501801	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:34501801T>C	ENST00000312319.2	-	7	991	c.762A>G	c.(760-762)ggA>ggG	p.G254G	ELF5_ENST00000429939.2_Silent_p.G149G|ELF5_ENST00000257832.2_Silent_p.G244G	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	254					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				GTGCATTTTTTCCAAATTTGT	0.403000													11	23					0	0	0.013537	0	0
ZNF784	147808	broad.mit.edu	37	19	56133908	56133908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56133908C>A	ENST00000325351.4	-	2	220	c.181G>T	c.(181-183)Gag>Tag	p.E61*	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GAACCTGGCTCCGGGGGCTCA	0.652000													9	16					5.4927e-09	7.30711e-09	0.004482	1	0
IGSF5	150084	broad.mit.edu	37	21	41164019	41164019	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:41164019G>A	ENST00000380588.4	+	7	1144	c.1041G>A	c.(1039-1041)aaG>aaA	p.K347K		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	347						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ATGAACAAAAGACCACAGGTG	0.443000													4	5					0	0	0.009096	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35500120	35500120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:35500120G>A	ENST00000599564.1	+	3	438	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.E36K|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.E36K|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.E36K|GRAMD1A_ENST00000598073.1_3'UTR			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	36	GRAM.					integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCTGAGCCAGAACCAGGCAC	0.662000													28	28					0	0	0.007291	0	0
NEDD4	4734	broad.mit.edu	37	15	56122119	56122119	+	Silent	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:56122119G>T	ENST00000508342.1	-	25	4235	c.3936C>A	c.(3934-3936)acC>acA	p.T1312T	NEDD4_ENST00000435532.3_Silent_p.T893T|NEDD4_ENST00000338963.2_Silent_p.T1240T|NEDD4_ENST00000506154.1_Silent_p.T1296T			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1312	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAAAGCCCTGGGTGTTTTCAA	0.358000													6	21					5.18039e-06	6.85504e-06	0.003080	1	0
TRIM42	287015	broad.mit.edu	37	3	140401985	140401985	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:140401985C>T	ENST00000286349.3	+	2	1214	c.1023C>T	c.(1021-1023)atC>atT	p.I341I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	341						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCAGCGCCATCGCCAAGTTCA	0.542000													6	15					0	0	0.001984	0	0
PTPN13	5783	broad.mit.edu	37	4	87693939	87693939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:87693939C>T	ENST00000436978.1	+	32	5672	c.5192C>T	c.(5191-5193)tCc>tTc	p.S1731F	PTPN13_ENST00000316707.6_Missense_Mutation_p.S1535F|PTPN13_ENST00000427191.2_Missense_Mutation_p.S1707F|PTPN13_ENST00000511467.1_Missense_Mutation_p.S1731F|PTPN13_ENST00000411767.2_Missense_Mutation_p.S1726F	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1726						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTAATCCTTCCCCTCTACCA	0.368000													59	46					0	0	0.014410	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214126	1214126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:1214126C>T	ENST00000304460.10	+	6	889	c.833C>T	c.(832-834)tCc>tTc	p.S278F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	278					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTCTTCTTCTCCTTCTCCCTG	0.642000													50	48					0	0	0.014410	0	0
CHD1	1105	broad.mit.edu	37	5	98199227	98199227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:98199227G>A	ENST00000284049.3	-	31	4461	c.4312C>T	c.(4312-4314)Ctt>Ttt	p.L1438F	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1438					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTTTCTGAAAGGCCTTTCTCA	0.323000													23	21					0	0	0.007291	0	0
ZFHX3	463	broad.mit.edu	37	16	72993163	72993163	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:72993163G>A	ENST00000268489.5	-	2	1554	c.882C>T	c.(880-882)gtC>gtT	p.V294V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	294					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAAACGAACGGACGTACCCAA	0.493000													31	3					0	0	0.010818	0	0
FSD1	79187	broad.mit.edu	37	19	4307944	4307944	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:4307944G>A	ENST00000221856.6	+	4	456	c.309G>A	c.(307-309)caG>caA	p.Q103Q	FSD1_ENST00000597590.1_Silent_p.Q103Q|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	103					cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCAACCAGACTCTGCAGG	0.592000													7	23					0	0	0.003080	0	0
PCNX	22990	broad.mit.edu	37	14	71555960	71555960	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:71555960C>T	ENST00000304743.2	+	30	5936	c.5490C>T	c.(5488-5490)ttC>ttT	p.F1830F	PCNX_ENST00000238570.5_Silent_p.F1758F|PCNX_ENST00000439984.3_Silent_p.F1719F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1830						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAGGAGATTTCCGTATTTCTT	0.373000													18	26					0	0	0.008871	0	0
SEMA3F	6405	broad.mit.edu	37	3	50225292	50225292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:50225292C>T	ENST00000002829.3	+	19	2586	c.2102C>T	c.(2101-2103)gCc>gTc	p.A701V	SEMA3F_ENST00000413852.1_Missense_Mutation_p.A602V|SEMA3F_ENST00000434342.1_Missense_Mutation_p.A670V	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	701					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GGCCGGGACGCCGTCCATGCT	0.642000													4	11					0	0	0.009096	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891842	18891842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:18891842G>A	ENST00000317658.3	+	1	798	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	214					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AGAAAGCTTGGAAATAGTTAA	0.398000													3	6					0	0	0.009096	0	0
PHF2	5253	broad.mit.edu	37	9	96437289	96437289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:96437289C>T	ENST00000359246.4	+	19	3074	c.2707C>T	c.(2707-2709)Ccc>Tcc	p.P903S	PHF2_ENST00000375376.4_Missense_Mutation_p.P134S	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	903					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGACGACGCTCCCTACAGCCC	0.567000													12	17					0	0	0.002450	0	0
WISP2	8839	broad.mit.edu	37	20	43348729	43348729	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:43348729C>T	ENST00000372868.2	+	3	595	c.252C>T	c.(250-252)ccC>ccT	p.P84P	RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Silent_p.P84P|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000190983.4_Silent_p.P84P			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	84	IGFBP N-terminal.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GGGCAGGACCCGGTGGCCGGG	0.701000													4	3					0	0	0.001168	0	0
CNTN5	53942	broad.mit.edu	37	11	99827575	99827575	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:99827575C>T	ENST00000524871.1	+	8	1001	c.711C>T	c.(709-711)tcC>tcT	p.S237S	CNTN5_ENST00000528682.1_Silent_p.S237S|CNTN5_ENST00000418526.2_Silent_p.S163S|CNTN5_ENST00000279463.3_Silent_p.S237S|CNTN5_ENST00000527185.1_Silent_p.S237S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	237	Ig-like C2-type 2.				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)		AGTTCCCTTCCTTTGTGGCGG	0.403000													32	37					0	0	0.007835	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47348866	47348866	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:47348866G>A	ENST00000505841.1	-	0	597					NR_002788.2																						ATGCTGCCCTGGTGGCTGAAG	0.483000													34	17					0	0	0.003755	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591146	234591146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:234591146C>T	ENST00000373426.3	+	1	563	c.563C>T	c.(562-564)tCc>tTc	p.S188F	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTCCTCTTTCCTATGTCCCC	0.473000													55	84					0	0	0.014410	0	0
MS4A2	2206	broad.mit.edu	37	11	59857903	59857903	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:59857903C>A	ENST00000278888.3	+	3	383	c.281C>A	c.(280-282)tCa>tAa	p.S94*		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	94					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GACATTTTTTCATCATTTAAA	0.343000													44	62					1.35964e-18	1.82276e-18	0.014410	1	0
PLEKHG6	55200	broad.mit.edu	37	12	6421412	6421412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:6421412C>T	ENST00000396988.3	+	2	250	c.20C>T	c.(19-21)cCa>cTa	p.P7L	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.P7L|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.P7L|PLEKHG6_ENST00000538208.1_3'UTR	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	7					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TTTGGTCCTCCACATGAGGGC	0.587000													28	13					0	0	0.010818	0	0
COL4A1	1282	broad.mit.edu	37	13	110831666	110831666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:110831666G>A	ENST00000375820.4	-	30	2417	c.2296C>T	c.(2296-2298)Cct>Tct	p.P766S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	766	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGTTCTCCAGGAACGCCTGGT	0.577000													35	40					0	0	0.003755	0	0
C16orf62	57020	broad.mit.edu	37	16	19710899	19710899	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:19710899A>C	ENST00000438132.3	+	30	3037	c.2989A>C	c.(2989-2991)Aag>Cag	p.K997Q	C16orf62_ENST00000417362.2_Missense_Mutation_p.K815Q|C16orf62_ENST00000542263.1_Missense_Mutation_p.K904Q|C16orf62_ENST00000543152.1_Missense_Mutation_p.K657Q|C16orf62_ENST00000448695.1_Missense_Mutation_p.K758Q|C16orf62_ENST00000251143.5_Missense_Mutation_p.K908Q	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	908						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ACGCAACAACAAGCTCAACCA	0.587000													37	35					0	0	0.006999	0	0
KIAA1199	57214	broad.mit.edu	37	15	81214393	81214393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:81214393C>T	ENST00000394685.3	+	17	2536	c.2117C>T	c.(2116-2118)cCc>cTc	p.P706L	KIAA1199_ENST00000356249.5_Missense_Mutation_p.P706L|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P706L			Q8WUJ3	K1199_HUMAN	KIAA1199	706										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCAACGGGCCCCTCCGTGGGA	0.507000													83	8					0	0	0.014410	0	0
RGS3	5998	broad.mit.edu	37	9	116258097	116258097	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:116258097G>C	ENST00000374140.2	+	9	930	c.721G>C	c.(721-723)Ggg>Cgg	p.G241R	RGS3_ENST00000317613.6_Missense_Mutation_p.G129R|RGS3_ENST00000350696.5_Missense_Mutation_p.G241R	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	241					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CATGAGCTTTGGGGTGAAGTC	0.522000													34	20					0	0	0.007835	0	0
LAMB3	3914	broad.mit.edu	37	1	209797291	209797291	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:209797291G>A	ENST00000391911.1	-	14	2420	c.2031C>T	c.(2029-2031)tcC>tcT	p.S677S	LAMB3_ENST00000367030.3_Silent_p.S677S|LAMB3_ENST00000356082.4_Silent_p.S677S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	677	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCTCGGAAGGGACAACGTCT	0.502000													31	16					0	0	0.003755	0	0
CD1C	911	broad.mit.edu	37	1	158260927	158260927	+	Missense_Mutation	SNP	C	C	T	rs139113876		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:158260927C>T	ENST00000368170.3	+	2	344	c.65C>T	c.(64-66)tCc>tTc	p.S22F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	22					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCAAAAGCATCCCAGGAACAC	0.473000													21	3					0	0	0.003330	0	0
BBS7	55212	broad.mit.edu	37	4	122760821	122760821	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:122760821G>A	ENST00000264499.4	-	13	1519	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	BBS7_ENST00000506636.1_Missense_Mutation_p.R446W	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	446					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	p.R446W(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GCCTGGCACCGATAAGTGGCA	0.358000									Bardet-Biedl syndrome				5	18					0	0	0.001984	0	0
CCDC158	339965	broad.mit.edu	37	4	77247026	77247026	+	Silent	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:77247026T>A	ENST00000388914.3	-	22	3293	c.3141A>T	c.(3139-3141)tcA>tcT	p.S1047S		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1047	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CAGAATCAGATGAATGAATAG	0.368000													20	45					0	0	0.010504	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169935	32169935	+	Missense_Mutation	SNP	G	G	A	rs142477287		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32169935G>A	ENST00000375023.3	-	21	3811	c.3673C>T	c.(3673-3675)Cgg>Tgg	p.R1225W		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1225					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGCCCGTCCCGGAAGAGAAGC	0.622000													86	66					0	0	0.014410	0	0
SRCAP	10847	broad.mit.edu	37	16	30721292	30721292	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:30721292G>T	ENST00000262518.4	+	8	1362	c.977G>T	c.(976-978)cGt>cTt	p.R326L	SRCAP_ENST00000395059.2_Missense_Mutation_p.R326L|SRCAP_ENST00000344771.4_Missense_Mutation_p.R326L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	326	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGCTTCGCCGTGAGGGAGAA	0.542000													10	19					3.03607e-14	4.06338e-14	0.013537	1	0
ACSM4	341392	broad.mit.edu	37	12	7463245	7463245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:7463245G>A	ENST00000399422.4	+	3	571	c.523G>A	c.(523-525)Gtg>Atg	p.V175M		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	175					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GGCCCCAGCGGTGGAGTCCAT	0.542000													8	5					0	0	0.004482	0	0
BAI3	577	broad.mit.edu	37	6	69703688	69703688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:69703688G>A	ENST00000370598.1	+	11	2584	c.1763G>A	c.(1762-1764)cGa>cAa	p.R588Q		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	588					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R588P(1)|p.R588Q(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGGGCAGCGAATGCTGGCA	0.418000													49	54					0	0	0.014410	0	0
MYH10	4628	broad.mit.edu	37	17	8424604	8424604	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:8424604C>T	ENST00000360416.3	-	18	2096		c.e18-1		MYH10_ENST00000379980.4_Splice_Site|MYH10_ENST00000396239.1_Splice_Site|MYH10_ENST00000269243.4_Splice_Site	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle						actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATACGGTCCACTGGGGAGAAG	0.473000													14	34					0	0	0.002450	0	0
TMEM255A	55026	broad.mit.edu	37	X	119410865	119410865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:119410865C>T	ENST00000371369.4	-	7	776	c.550G>A	c.(550-552)Gat>Aat	p.D184N	TMEM255A_ENST00000309720.5_Missense_Mutation_p.D208N|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.D44N	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		CTGCTGACATCGATGTATTCG	0.587000													38	4					0	0	0.006999	0	0
SF3B2	10992	broad.mit.edu	37	11	65827417	65827417	+	Silent	SNP	C	C	T	rs141730568	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:65827417C>T	ENST00000528302.1	+	12	1569	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	SF3B2_ENST00000322535.6_Silent_p.F522F			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	522					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGCCCCCCTTCGAGCTGCCAG	0.612000													23	21					0	0	0.009535	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38411434	38411434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:38411434C>T	ENST00000377694.1	-	4	822	c.800G>A	c.(799-801)aGg>aAg	p.R267K		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	267					regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		GTGGAAGCTCCTGTATTTACT	0.473000													25	16					0	0	0.006320	0	0
SLC4A3	6508	broad.mit.edu	37	2	220493868	220493868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:220493868C>T	ENST00000358055.3	+	4	732	c.220C>T	c.(220-222)Cac>Tac	p.H74Y	SLC4A3_ENST00000373760.2_Missense_Mutation_p.H74Y|SLC4A3_ENST00000373762.3_Missense_Mutation_p.H74Y|SLC4A3_ENST00000273063.6_Missense_Mutation_p.H74Y|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_Missense_Mutation_p.H74Y			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	74					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCCCAGTTCACCGGCACAC	0.692000													10	6					0	0	0.001855	0	0
SEL1L3	23231	broad.mit.edu	37	4	25780778	25780778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:25780778C>T	ENST00000399878.3	-	16	2627	c.2505G>A	c.(2503-2505)atG>atA	p.M835I	SEL1L3_ENST00000502949.1_Missense_Mutation_p.M682I|SEL1L3_ENST00000264868.5_Missense_Mutation_p.M800I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	835						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AGGTCCCTTCCATGTGTCCAC	0.468000													20	56					0	0	0.012319	0	0
OR5A2	219981	broad.mit.edu	37	11	59190058	59190058	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:59190058C>T	ENST00000302040.4	-	1	391	c.369G>A	c.(367-369)cgG>cgA	p.R123R		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TTGCAGCATACCGGTCATAGG	0.478000													5	18					0	0	0.000602	0	0
KNG1	3827	broad.mit.edu	37	3	186435437	186435437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:186435437G>A	ENST00000265023.4	+	1	318	c.106G>A	c.(106-108)Gct>Act	p.A36T	KNG1_ENST00000447445.1_Missense_Mutation_p.A36T|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.A36T	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	36	Cystatin 1.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTTATTTAAAGCTGTGGATGC	0.403000													13	32					0	0	0.013537	0	0
UNC13A	23025	broad.mit.edu	37	19	17743624	17743624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:17743624G>A	ENST00000428389.2	-	29	3658	c.3659C>T	c.(3658-3660)cCc>cTc	p.P1220L	UNC13A_ENST00000552293.1_Missense_Mutation_p.P1132L|UNC13A_ENST00000550896.1_Missense_Mutation_p.P1130L|UNC13A_ENST00000519716.2_Missense_Mutation_p.P1132L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P1132L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P1132L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1132	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTTGAAGGCGGGAAGTTCCGT	0.552000													43	47					0	0	0.014410	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368682	18368682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:18368682G>A	ENST00000392413.3	-	4	3627	c.3412C>T	c.(3412-3414)Cgg>Tgg	p.R1138W	KIAA1683_ENST00000600359.2_Missense_Mutation_p.R905W|KIAA1683_ENST00000600328.2_Missense_Mutation_p.R951W	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	1138	IQ 5.|IQ 6.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGGCCCCCCGGTGCCACAGC	0.667000													36	24					0	0	0.004878	0	0
OR2K2	26248	broad.mit.edu	37	9	114090661	114090661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:114090661G>A	ENST00000374428.1	-	1	139	c.140C>T	c.(139-141)tCc>tTc	p.S47F	OR2K2_ENST00000302681.1_Missense_Mutation_p.S18F			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TGGGTACTGGGAAAATCCCTC	0.388000													13	24					0	0	0.003163	0	0
SLC22A10	387775	broad.mit.edu	37	11	63069867	63069867	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:63069867C>T	ENST00000544661.1	+	8	1100	c.672C>T	c.(670-672)ttC>ttT	p.F224F	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000332793.6_Silent_p.F379F|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	379						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCAACATTTTCCTGTTGCAGG	0.408000													15	11					0	0	0.004007	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156726317	156726317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:156726317C>T	ENST00000264424.8	+	13	1854	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	GUCY1B3_ENST00000513437.1_Missense_Mutation_p.S523F|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.S571F|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.S558F|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.S566F|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.S613F|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.S523F	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	591					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)		GGCCCAGTGTCCATGAAGGGC	0.398000													11	8					0	0	0.010729	0	0
CDH18	1016	broad.mit.edu	37	5	19473339	19473339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:19473339G>A	ENST00000507958.1	-	15	3359	c.2369C>T	c.(2368-2370)aCt>aTt	p.T790I	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.T790I|CDH18_ENST00000274170.4_Missense_Mutation_p.T790I			Q13634	CAD18_HUMAN	cadherin 18, type 2	790					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GACCCCCTAAGTTGTTCTTTC	0.428000													9	22					0	0	0.010729	0	0
ERC1	23085	broad.mit.edu	37	12	1553829	1553829	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:1553829C>T	ENST00000397203.2	+	18	3532	c.3126C>T	c.(3124-3126)ctC>ctT	p.L1042L	ERC1_ENST00000589028.1_Silent_p.L1042L|ERC1_ENST00000355446.5_Silent_p.L1042L|ERC1_ENST00000543086.3_Silent_p.L1014L|ERC1_ENST00000546231.2_Silent_p.L1046L|ERC1_ENST00000360905.4_Silent_p.L1042L			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	1042					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CCCTGATCCTCCGTGGACTCA	0.527000													16	43					0	0	0.008871	0	0
EPHA6	285220	broad.mit.edu	37	3	96706696	96706696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:96706696G>A	ENST00000389672.5	+	3	1011	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	EPHA6_ENST00000470610.2_Missense_Mutation_p.E325K|EPHA6_ENST00000542517.1_Missense_Mutation_p.E231K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	230						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTCTTTGGTTGAAGTACGGGG	0.473000													67	43					0	0	0.014410	0	0
TRIML2	205860	broad.mit.edu	37	4	189022263	189022263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:189022263G>A	ENST00000512729.1	-	3	651	c.277C>T	c.(277-279)Caa>Taa	p.Q93*	TRIML2_ENST00000326754.3_Nonsense_Mutation_p.Q93*|TRIML2_ENST00000536972.1_Nonsense_Mutation_p.Q143*	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	93							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTGATCGCTTGATTCAGAAGG	0.428000													33	34					0	0	0.003271	0	0
EPHA7	2045	broad.mit.edu	37	6	93982049	93982049	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:93982049G>A	ENST00000369303.4	-	6	1600	c.1416C>T	c.(1414-1416)gtC>gtT	p.V472V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	472	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTCTGTGATGACTCCATTGG	0.453000													6	9					0	0	0.001984	0	0
KIF5C	3800	broad.mit.edu	37	2	149853789	149853789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:149853789G>A	ENST00000435030.1	+	18	2403	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	KIF5C_ENST00000397413.1_Missense_Mutation_p.E447K|KIF5C_ENST00000414838.2_Missense_Mutation_p.E584K|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	679					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAAAATGCACGAAGTCAGCTT	0.403000													7	18					0	0	0.004482	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625979	140625979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140625979C>T	ENST00000231173.3	+	1	833	c.833C>T	c.(832-834)tCa>tTa	p.S278L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		278	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGAGATATCATACTCCCTT	0.448000													22	18					0	0	0.003330	0	0
LRFN2	57497	broad.mit.edu	37	6	40399681	40399681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:40399681G>A	ENST00000338305.6	-	2	1714	c.1172C>T	c.(1171-1173)cCc>cTc	p.P391L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	391						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGACTTGGGGGGTGCAGTGCG	0.667000													10	47					0	0	0.001855	0	0
CSMD3	114788	broad.mit.edu	37	8	114111144	114111144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:114111144G>A	ENST00000297405.5	-	5	1002	c.758C>T	c.(757-759)tCc>tTc	p.S253F	CSMD3_ENST00000352409.3_Missense_Mutation_p.S253F|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Missense_Mutation_p.S213F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S253F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	253	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTAGGGCTGGATATGATGCC	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	5					0	0	0.000602	0	0
RGS22	26166	broad.mit.edu	37	8	101083692	101083692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:101083692G>A	ENST00000360863.6	-	6	693	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	RGS22_ENST00000523437.1_Missense_Mutation_p.P167S|RGS22_ENST00000523287.1_Intron	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	167					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACGATCCAGGGAGAAAAATTT	0.378000													21	15					0	0	0.010504	0	0
OR6C65	403282	broad.mit.edu	37	12	55794783	55794783	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:55794783C>T	ENST00000379665.2	+	1	570	c.471C>T	c.(469-471)ccC>ccT	p.P157P		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTTTCCCCCCGTGATTATGG	0.438000													40	81					0	0	0.010771	0	0
NPAP1	23742	broad.mit.edu	37	15	24921531	24921531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:24921531G>A	ENST00000329468.2	+	1	991	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CGAAGGGGAGGATGACGAGAA	0.622000													13	10					0	0	0.013537	0	0
ITGB2	3689	broad.mit.edu	37	21	46306678	46306678	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:46306678C>T	ENST00000397850.2	-	16	2672	c.2220G>A	c.(2218-2220)aaG>aaA	p.K740K	ITGB2_ENST00000397854.3_Silent_p.K683K|ITGB2_ENST00000397857.1_Silent_p.K740K|ITGB2_ENST00000397852.1_Silent_p.K740K|ITGB2_ENST00000302347.5_Silent_p.K740K|ITGB2_ENST00000355153.4_Silent_p.K740K			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	740					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGAGCTTCTCCTTCTCAAAGC	0.617000													11	24					0	0	0.010729	0	0
THSD7B	80731	broad.mit.edu	37	2	138420994	138420994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:138420994G>A	ENST00000409968.1	+	26	4678	c.4500G>A	c.(4498-4500)atG>atA	p.M1500I	THSD7B_ENST00000413152.2_Missense_Mutation_p.M1472I|THSD7B_ENST00000272643.3_Missense_Mutation_p.M1503I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGAGATAATGAAATCAAATG	0.378000													6	5					0	0	0.001984	0	0
BTRC	8945	broad.mit.edu	37	10	103310563	103310563	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:103310563C>T	ENST00000370187.3	+	14	1882	c.1764C>T	c.(1762-1764)gcC>gcT	p.A588A	BTRC_ENST00000393441.4_Silent_p.A547A|BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Silent_p.A552A	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	588					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		ATCCAGCTGCCCAAGCTGAAC	0.453000													37	39					0	0	0.006999	0	0
FMN2	56776	broad.mit.edu	37	1	240370204	240370204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:240370204C>T	ENST00000319653.9	+	5	2322	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	698					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)			GAGGCAGTATCCTGCCCTGGA	0.498000													39	14					0	0	0.009718	0	0
ZPLD1	131368	broad.mit.edu	37	3	102187901	102187901	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:102187901G>A	ENST00000306176.1	+	8	1003	c.903G>A	c.(901-903)aaG>aaA	p.K301K	ZPLD1_ENST00000466937.1_Silent_p.K285K|ZPLD1_ENST00000491959.1_Silent_p.K285K	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	285	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TGAAACACAAGAATCAGAAAA	0.473000													33	11					0	0	0.012213	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812928	31812928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:31812928C>T	ENST00000334067.3	+	1	332	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	95						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CATAAGATCCCTTGGATGTGG	0.502000													54	65					0	0	0.014410	0	0
HGFAC	3083	broad.mit.edu	37	4	3443791	3443791	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:3443791C>T	ENST00000382774.3	+	1	178	c.63C>T	c.(61-63)ctC>ctT	p.L21L	HGFAC_ENST00000511533.1_Silent_p.L21L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	21					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTTCCTCCTCCTCCTCCTGC	0.726000													17	8					0	0	0.004007	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075504	76075504	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:76075504G>A	ENST00000395215.3	+	0	1144																											ggctgcgaaaggaggaggaga	0.612000													92	92					0	0	0.014410	0	0
FIZ1	84922	broad.mit.edu	37	19	56108957	56108957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56108957G>A	ENST00000221665.3	-	2	364	c.275C>T	c.(274-276)aCc>aTc	p.T92I	FIZ1_ENST00000592585.1_Intron	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGCAGGCCGGTGGAGTCGCG	0.682000													12	12					0	0	0.002450	0	0
TCP10	6953	broad.mit.edu	37	6	167786826	167786826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:167786826G>A	ENST00000397829.4	-	8	979	c.812C>T	c.(811-813)tCt>tTt	p.S271F	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	298						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TTCCAGGGAAGATGGTGGGTT	0.493000													9	70					0	0	0.004990	0	0
F7	2155	broad.mit.edu	37	13	113768160	113768160	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:113768160G>A	ENST00000375581.3	+	5	351		c.e5-1		F7_ENST00000541084.1_Splice_Site|F7_ENST00000473085.1_Splice_Site|F7_ENST00000346342.3_Splice_Site	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)						anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCACTCCACAGATGGGGACCA	0.567000													39	41					0	0	0.008740	0	0
GIPC1	10755	broad.mit.edu	37	19	14591135	14591135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:14591135C>T	ENST00000393033.4	-	6	906	c.637G>A	c.(637-639)Gag>Aag	p.E213K	GIPC1_ENST00000586027.1_Missense_Mutation_p.E213K|GIPC1_ENST00000393029.3_Missense_Mutation_p.E116K|GIPC1_ENST00000591349.1_Missense_Mutation_p.E116K|GIPC1_ENST00000393028.1_Missense_Mutation_p.E116K|GIPC1_ENST00000345425.2_Missense_Mutation_p.E213K	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	213	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TTGCGAGGCTCCGTGAGCTTC	0.716000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	30					0	0	0.007291	0	0
CAPN15	6650	broad.mit.edu	37	16	601532	601532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:601532C>T	ENST00000219611.2	+	9	2576	c.2213C>T	c.(2212-2214)cCg>cTg	p.P738L	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		CTCCGAAACCCGTGGGGCCGT	0.692000													38	56					0	0	0.007835	0	0
STOML3	161003	broad.mit.edu	37	13	39544384	39544384	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:39544384A>G	ENST00000379631.4	-	5	798	c.454T>C	c.(454-456)Tta>Cta	p.L152L	STOML3_ENST00000423210.1_Silent_p.L143L	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	152						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TGTGTCCCTAAGACATTTCTC	0.443000													57	57					0	0	0.014410	0	0
TRAIP	10293	broad.mit.edu	37	3	49878431	49878431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49878431G>A	ENST00000331456.2	-	8	805	c.692C>T	c.(691-693)tCc>tTc	p.S231F	TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	231	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTTCTGGAGGAAAACAAATC	0.507000											OREG0015575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	94					0	0	0.014410	0	0
ZNF614	80110	broad.mit.edu	37	19	52521633	52521633	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:52521633G>A	ENST00000270649.6	-	3	674	c.130C>T	c.(130-132)Cta>Tta	p.L44L	ZNF614_ENST00000356322.6_Silent_p.L44L	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGTGATACTAGGTGGTTATAG	0.507000													50	55					0	0	0.014410	0	0
LILRA4	23547	broad.mit.edu	37	19	54848308	54848308	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:54848308G>A	ENST00000291759.4	-	6	1115	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	353	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TGGTCAGAAGGAAAGTGAACA	0.582000													36	47					0	0	0.004289	0	0
FAT4	79633	broad.mit.edu	37	4	126241866	126241866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:126241866C>T	ENST00000394329.3	+	1	4313	c.4300C>T	c.(4300-4302)Ccc>Tcc	p.P1434S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1434	Cadherin 14.				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						TGAGAACATTCCCATCGGTAC	0.413000													47	35					0	0	0.014410	0	0
OR5L1	219437	broad.mit.edu	37	11	55579528	55579528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55579528G>A	ENST00000333973.2	+	1	675	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CACTGTGAATGAGACACTGCT	0.443000													19	48					0	0	0.008871	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602660	138602660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:138602660G>A	ENST00000440172.1	-	2	1760	c.1712C>T	c.(1711-1713)tCt>tTt	p.S571F	KIAA1549_ENST00000422774.1_Missense_Mutation_p.S571F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S521F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	571	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGCTATGACAGAGAAAGATGA	0.488000			O	BRAF	pilocytic astrocytoma								7	5					0	0	0.001984	0	0
TMEM176A	55365	broad.mit.edu	37	7	150500716	150500716	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:150500716G>A	ENST00000484928.1	+	5	932	c.351G>A	c.(349-351)ctG>ctA	p.L117L	TMEM176A_ENST00000004103.3_Silent_p.L117L|TMEM176A_ENST00000461345.1_Silent_p.L58L			Q96HP8	T176A_HUMAN	transmembrane protein 176A	117						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCCCTGCTGAGGACTCTGC	0.527000													50	56					0	0	0.014410	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606232	82606232	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:82606232A>T	ENST00000518568.1	-	1	2177	c.976T>A	c.(976-978)Tta>Ata	p.L326I		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	326						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AAGAACACTAATCCCACTGTG	0.358000													7	14					0	0	0.006214	0	0
OR1E2	8388	broad.mit.edu	37	17	3336173	3336173	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:3336173G>A	ENST00000248384.1	-	1	962	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	321					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GTCATAGAAGGAAGGGATTTT	0.383000													16	32					0	0	0.004990	0	0
PTPRK	5796	broad.mit.edu	37	6	128388791	128388791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:128388791C>T	ENST00000368227.3	-	12	2396	c.2030G>A	c.(2029-2031)gGa>gAa	p.G677E	PTPRK_ENST00000368207.3_Missense_Mutation_p.G677E|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.G677E|PTPRK_ENST00000368213.5_Missense_Mutation_p.G677E|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368226.4_Missense_Mutation_p.G677E|PTPRK_ENST00000532331.1_Missense_Mutation_p.G677E|PTPRK_ENST00000368210.3_Missense_Mutation_p.G677E			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	677	Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGGTAGGTTTCCCGGGGGGAG	0.542000													13	28					0	0	0.004007	0	0
RPTN	126638	broad.mit.edu	37	1	152128196	152128196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:152128196C>T	ENST00000316073.3	-	3	1443	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	460	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATAGTGGGAACTCTGGCCTTG	0.512000													97	371					0	0	0.014410	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535103	124535103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:124535103G>A	ENST00000408936.3	+	12	2478	c.2296G>A	c.(2296-2298)Ggc>Agc	p.G766S	DAB2IP_ENST00000309989.1_Missense_Mutation_p.G642S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.G738S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	766					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTCCCCGGCGGGCCCCGACGT	0.711000													7	2					0	0	0.003080	0	0
C1orf177	163747	broad.mit.edu	37	1	55277780	55277780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:55277780G>A	ENST00000358193.3	+	6	734	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	C1orf177_ENST00000371273.3_Missense_Mutation_p.R227Q	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	227										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TATGTGGCACGATCCGTCGGC	0.587000													73	28					0	0	0.014410	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032452	142032452	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:142032452G>A	ENST00000547918.2	+	0	305																											AGGTCTGAGGGATCCATCTCC	0.572000													7	6					0	0	0.001984	0	0
ANKRD11	29123	broad.mit.edu	37	16	89345484	89345484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:89345484G>A	ENST00000301030.4	-	9	7926	c.7466C>T	c.(7465-7467)cCc>cTc	p.P2489L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P2489L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2489						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ACTCACCACGGGGATGTGGAG	0.662000													3	0					0	0	0.004672	0	0
KLK5	25818	broad.mit.edu	37	19	51452287	51452287	+	Silent	SNP	G	G	A	rs8104840	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:51452287G>A	ENST00000336334.3	-	4	772	c.420C>T	c.(418-420)atC>atT	p.I140I	KLK5_ENST00000593428.1_Silent_p.I140I|KLK5_ENST00000391809.2_Silent_p.I140I	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	140	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CAGGGTGGGGGATGGATTTGA	0.527000													40	43					0	0	0.009718	0	0
NLRP5	126206	broad.mit.edu	37	19	56520207	56520207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56520207G>A	ENST00000390649.3	+	3	496	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	166						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACCAAGCAAGGAAAAAGTGCC	0.473000													3	7					0	0	0.009096	0	0
ANK2	287	broad.mit.edu	37	4	114279819	114279819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:114279819C>T	ENST00000357077.4	+	38	10098	c.10045C>T	c.(10045-10047)Cct>Tct	p.P3349S	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3316S|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3316					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTCCAAACTCCCTGTCAAAGT	0.468000													17	25					0	0	0.008871	0	0
GPR61	83873	broad.mit.edu	37	1	110085928	110085928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:110085928C>T	ENST00000527748.1	+	2	967	c.284C>T	c.(283-285)cCc>cTc	p.P95L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	95						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACCCTCATGCCCCTGGCCATG	0.612000													22	85					0	0	0.002780	0	0
SCARF1	8578	broad.mit.edu	37	17	1538795	1538795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:1538795G>A	ENST00000263071.4	-	11	1799	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	SCARF1_ENST00000348987.3_Missense_Mutation_p.R498W|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	584	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCTTGGCCCGAGCTAGGCTG	0.672000													22	45					0	0	0.002780	0	0
MXRA5	25878	broad.mit.edu	37	X	3235955	3235955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:3235955G>A	ENST00000217939.6	-	6	5921	c.5767C>T	c.(5767-5769)Cga>Tga	p.R1923*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1923	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TACTGGCCTCGATCTTGTACT	0.512000													29	0					0	0	0.009535	0	0
CNNM2	54805	broad.mit.edu	37	10	104836854	104836854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:104836854G>A	ENST00000369878.3	+	8	2669	c.2545G>A	c.(2545-2547)Gag>Aag	p.E849K	CNNM2_ENST00000433628.2_Missense_Mutation_p.E827K|CNNM2_ENST00000457502.2_Missense_Mutation_p.E607K	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	849					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTTGCCAGACGAGACAGCCAA	0.552000													34	52					0	0	0.003755	0	0
LPHN2	23266	broad.mit.edu	37	1	82434924	82434924	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:82434924C>T	ENST00000370728.1	+	17	3219	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S	LPHN2_ENST00000370730.1_Silent_p.S858S|LPHN2_ENST00000370725.1_Silent_p.S858S|LPHN2_ENST00000370721.1_Silent_p.S783S|LPHN2_ENST00000370715.1_Silent_p.S845S|LPHN2_ENST00000319517.6_Silent_p.S845S|LPHN2_ENST00000335786.5_Silent_p.S858S|LPHN2_ENST00000370727.1_Silent_p.S858S|LPHN2_ENST00000394879.1_Silent_p.S845S|LPHN2_ENST00000370723.1_Silent_p.S845S|LPHN2_ENST00000359929.3_Silent_p.S845S|LPHN2_ENST00000370713.1_Silent_p.S845S|LPHN2_ENST00000370717.2_Silent_p.S858S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Silent_p.S858S			O95490	LPHN2_HUMAN	latrophilin 2	858					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTGTCATTTCCCTTGTTTGCC	0.393000													104	63					0	0	0.014410	0	0
GREM1	26585	broad.mit.edu	37	15	33022969	33022969	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:33022969G>A	ENST00000300177.4	+	2	267	c.78G>A	c.(76-78)aaG>aaA	p.K26K	GREM1_ENST00000560830.1_Silent_p.K26K|GREM1_ENST00000560677.1_Silent_p.K26K|GREM1_ENST00000322805.4_Silent_p.K26K	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	26					negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		AAGGGAAAAAGAAAGGGTCCC	0.617000													37	1					0	0	0.006999	0	0
HSPG2	3339	broad.mit.edu	37	1	22168862	22168862	+	Silent	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:22168862G>T	ENST00000374695.3	-	68	9001	c.8922C>A	c.(8920-8922)tcC>tcA	p.S2974S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2974	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCGCAGCTGGGAGCCATGGG	0.617000													9	4					1.58986e-06	2.10661e-06	0.008291	1	0
ARAP2	116984	broad.mit.edu	37	4	36230271	36230271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:36230271G>A	ENST00000303965.4	-	2	1327	c.838C>T	c.(838-840)Cga>Tga	p.R280*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	280					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGAAAAGATCGAGATGGTCTT	0.393000													10	13					0	0	0.006214	0	0
RSPRY1	89970	broad.mit.edu	37	16	57238576	57238576	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:57238576C>T	ENST00000537866.1	+	2	879	c.6C>T	c.(4-6)atC>atT	p.I2I	RSPRY1_ENST00000394420.4_Silent_p.I2I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	2						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCTAAATGATCGTCTTTGGTT	0.448000													91	11					0	0	0.014410	0	0
UNC45B	146862	broad.mit.edu	37	17	33507614	33507614	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:33507614C>T	ENST00000268876.5	+	18	2395	c.2298C>T	c.(2296-2298)atC>atT	p.I766I	UNC45B_ENST00000394570.2_Silent_p.I764I|UNC45B_ENST00000378449.1_Silent_p.I685I|UNC45B_ENST00000433649.1_Silent_p.I764I|UNC45B_ENST00000591048.1_Silent_p.I685I	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	766					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGCCAGACATCGAGAACTACA	0.547000													24	37					0	0	0.005443	0	0
AQP9	366	broad.mit.edu	37	15	58471531	58471531	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:58471531T>C	ENST00000219919.4	+	5	1070	c.700T>C	c.(700-702)Ttt>Ctt	p.F234L	AQP9_ENST00000558772.1_Missense_Mutation_p.F169L|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.F234L	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	234					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AGGCTGGGGGTTTGAAGTCTT	0.557000													4	7					0	0	0.009096	0	0
MROH2B	133558	broad.mit.edu	37	5	41061756	41061756	+	Silent	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:41061756C>G	ENST00000399564.4	-	6	981	c.531G>C	c.(529-531)ctG>ctC	p.L177L		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GGTTGGCATCCAGTCTGGGGT	0.483000													37	51					0	0	0.004289	0	0
LAMA2	3908	broad.mit.edu	37	6	129637224	129637224	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:129637224A>T	ENST00000421865.2	+	27	4015	c.3966A>T	c.(3964-3966)agA>agT	p.R1322S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1322	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGTCCATAGAACTGTGACCC	0.348000													23	28					0	0	0.014323	0	0
ARSI	340075	broad.mit.edu	37	5	149676816	149676816	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:149676816G>A	ENST00000328668.7	-	2	2250	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	557						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGTTTACGGAAAAAGGATC	0.532000													41	66					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179427692	179427692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179427692C>T	ENST00000589042.1	-	326	83391	c.83167G>A	c.(83167-83169)Gag>Aag	p.E27723K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18658K|TTN_ENST00000359218.5_Missense_Mutation_p.E18783K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18850K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25155K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26082K|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26082	Fibronectin type-III 102.						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)			CTGGTCACCTCTATCTGAGCC	0.408000													4	18					0	0	0.009096	0	0
SSPO	23145	broad.mit.edu	37	7	149475892	149475892	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:149475892G>A	ENST00000378016.2	+	0	858							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AATGGCTGGGGGACTGGCTGG	0.632000													11	20					0	0	0.004990	0	0
MYH1	4619	broad.mit.edu	37	17	10400685	10400685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10400685C>T	ENST00000226207.5	-	32	4544	c.4450G>A	c.(4450-4452)Gaa>Aaa	p.E1484K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1484						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E1484*(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTAAATAGTTCTGTGCTGAGT	0.383000													29	6					0	0	0.009535	0	0
OR5J2	282775	broad.mit.edu	37	11	55944940	55944940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55944940C>T	ENST00000312298.1	+	1	847	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCTAGGGATTCCCATGTTAAA	0.383000													19	10					0	0	0.007413	0	0
MECOM	2122	broad.mit.edu	37	3	168838947	168838947	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:168838947G>A	ENST00000464456.1	-	6	1665	c.465C>T	c.(463-465)gtC>gtT	p.V155V	MECOM_ENST00000468789.1_Silent_p.V155V|MECOM_ENST00000264674.3_Silent_p.V220V|MECOM_ENST00000460814.1_Silent_p.V155V|MECOM_ENST00000433243.2_Silent_p.V156V|MECOM_ENST00000472280.1_Silent_p.V156V|MECOM_ENST00000392736.3_Silent_p.V155V|MECOM_ENST00000494292.1_Silent_p.V343V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	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						CCCGGGCACCGACATGCTGAG	0.522000													13	8					0	0	0.002450	0	0
LAMA1	284217	broad.mit.edu	37	18	6975951	6975951	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:6975951G>A	ENST00000389658.3	-	45	6567	c.6474C>T	c.(6472-6474)ctC>ctT	p.L2158L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2158	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTGCTACCGAGGTAGAAGA	0.403000													21	47					0	0	0.003330	0	0
AIM2	9447	broad.mit.edu	37	1	159035961	159035961	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:159035961C>T	ENST00000368130.4	-	4	843	c.555G>A	c.(553-555)aaG>aaA	p.K185K	AIM2_ENST00000481829.1_Intron	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	185	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AGAAGAATTCCTTTTCTGTAG	0.373000													58	23					0	0	0.014410	0	0
CUX1	1523	broad.mit.edu	37	7	101917540	101917540	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:101917540A>C	ENST00000437600.4	+	16	1755	c.1403A>C	c.(1402-1404)aAg>aCg	p.K468T	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Missense_Mutation_p.K470T|CUX1_ENST00000547394.2_Missense_Mutation_p.K454T|CUX1_ENST00000393824.3_Missense_Mutation_p.K431T|CUX1_ENST00000425244.2_Missense_Mutation_p.K424T	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	311					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CGCCTGGAGAAGATCCCAGAG	0.592000													20	35					0	0	0.003330	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336469	30336469	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:30336469C>T	ENST00000375377.1	-	2	374	c.273G>A	c.(271-273)tcG>tcA	p.S91S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	91										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCCCGCCTCCGAGGTTCTGG	0.552000													14	18					0	0	0.004990	0	0
ASPM	259266	broad.mit.edu	37	1	197061162	197061162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:197061162G>A	ENST00000367409.4	-	22	9575	c.9319C>T	c.(9319-9321)Cga>Tga	p.R3107*	ASPM_ENST00000367408.1_Nonsense_Mutation_p.R772*|ASPM_ENST00000294732.7_Nonsense_Mutation_p.R1522*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3107	IQ 37.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAGAAGTCGAATTTTGGCT	0.353000													20	7					0	0	0.003954	0	0
ZNF343	79175	broad.mit.edu	37	20	2473408	2473408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:2473408G>A	ENST00000278772.4	-	5	728	c.241C>T	c.(241-243)Cca>Tca	p.P81S	ZNF343_ENST00000381253.1_Missense_Mutation_p.P81S|ZNF343_ENST00000358413.2_Missense_Mutation_p.P81S|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.P81S	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTCTGCTCTGGACTCAGTCTC	0.408000													32	56					0	0	0.003755	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289765	160289765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:160289765G>A	ENST00000392783.2	-	9	1898	c.1403C>T	c.(1402-1404)cCa>cTa	p.P468L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P466L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P466L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P468L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGGATGTGCTGGTGAACTAGA	0.388000													38	82					0	0	0.008740	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33667283	33667283	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:33667283C>G	ENST00000321505.4	+	16	4750	c.4570C>G	c.(4570-4572)Cgg>Ggg	p.R1524G	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1530G					KIAA1549-like																		TCCTGAGCCCCGGGGCTATTC	0.537000													13	44					0	0	0.001855	0	0
CREBL2	1389	broad.mit.edu	37	12	12788821	12788821	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:12788821C>T	ENST00000228865.2	+	2	407	c.126C>T	c.(124-126)gcC>gcT	p.A42A	CREBL2_ENST00000540224.1_3'UTR	NM_001310.2	NP_001301.1	O60519	CRBL2_HUMAN	cAMP responsive element binding protein-like 2	42					cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		AATGCCGAGCCCGAAAAAAGC	0.468000													8	31					0	0	0.006214	0	0
AC005863.1	0	broad.mit.edu	37	17	14683360	14683360	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:14683360G>A	ENST00000379640.1	-	0	160																											CTATGCAGCGGAAACACACAG	0.557000													15	28					0	0	0.004007	0	0
C11orf40	143501	broad.mit.edu	37	11	4598944	4598944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:4598944C>T	ENST00000307616.1	-	1	106	c.107G>A	c.(106-108)aGa>aAa	p.R36K		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	36										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		aactttttctctctctgggca	0.582000													11	19					0	0	0.008291	0	0
GRM1	2911	broad.mit.edu	37	6	146350677	146350677	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:146350677T>A	ENST00000392299.2	+	2	494	c.24T>A	c.(22-24)ttT>ttA	p.F8L	GRM1_ENST00000355289.4_Missense_Mutation_p.F8L|GRM1_ENST00000361719.2_Missense_Mutation_p.F8L|GRM1_ENST00000492807.2_Missense_Mutation_p.F8L|GRM1_ENST00000282753.1_Missense_Mutation_p.F8L|GRM1_ENST00000507907.1_Missense_Mutation_p.F8L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	8					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTTTGTTTTTTTTCCCAGCGA	0.642000													85	76					0	0	0.014410	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782977	115782977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:115782977G>A	ENST00000343348.6	-	19	3212	c.2425C>T	c.(2425-2427)Ccc>Tcc	p.P809S	SEMA6A_ENST00000257414.8_Missense_Mutation_p.P826S|SEMA6A_ENST00000513137.1_Missense_Mutation_p.P236S|SEMA6A_ENST00000510263.1_Missense_Mutation_p.P809S|SEMA6A_ENST00000503865.1_Missense_Mutation_p.P188S|SEMA6A_ENST00000282394.6_Missense_Mutation_p.P286S	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	809	Pro-rich.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATGTGGCTGGGGGAGGCCCGC	0.642000													28	34					0	0	0.004656	0	0
PLCH1	23007	broad.mit.edu	37	3	155199389	155199389	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:155199389G>A	ENST00000460012.1	-	23	4693	c.4336C>T	c.(4336-4338)Ctg>Ttg	p.L1446L	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Silent_p.L1446L|PLCH1_ENST00000340059.7_Silent_p.L1484L|PLCH1_ENST00000334686.6_Silent_p.L1446L|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1484					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCAGTTTCAGAGCAGGCAAA	0.463000													14	28					0	0	0.001855	0	0
MYBPC2	4606	broad.mit.edu	37	19	50939889	50939889	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:50939889C>T	ENST00000357701.5	+	5	412	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	121	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CACCGTGGAGCTGCACATTGG	0.592000													23	35					0	0	0.004656	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870060	151870060	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:151870060C>T	ENST00000329342.5	+	3	975	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	250	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAATATTTCGTGCAGGAAA	0.537000													72	5					0	0	0.014410	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698717	111698717	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:111698717A>T	ENST00000340433.2	+	1	991	c.761A>T	c.(760-762)aAa>aTa	p.K254I		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	254							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCACCCAAGAAAGGGCCTATA	0.572000													71	3					0	0	0.014410	0	0
ZC3H3	23144	broad.mit.edu	37	8	144590010	144590010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:144590010G>A	ENST00000262577.5	-	4	1652	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	541					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTGACAATGCGGTAGCGGGTC	0.652000													44	27					0	0	0.014410	0	0
WRN	7486	broad.mit.edu	37	8	30938556	30938556	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:30938556T>G	ENST00000298139.5	+	9	1262	c.1013T>G	c.(1012-1014)gTt>gGt	p.V338G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	338					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAACATGAAGTTTTAATTCAC	0.353000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				7	5					0	0	0.001984	0	0
AKNA	80709	broad.mit.edu	37	9	117139657	117139657	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:117139657A>G	ENST00000307564.4	-	3	591	c.430T>C	c.(430-432)Ttg>Ctg	p.L144L	AKNA_ENST00000312033.3_Silent_p.L144L|AKNA_ENST00000374075.5_Silent_p.L63L|AKNA_ENST00000374088.3_Silent_p.L144L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCATACCCCAACCTTGAGGAG	0.622000													3	16					0	0	0.004672	0	0
PCDH15	65217	broad.mit.edu	37	10	55616960	55616960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:55616960C>T	ENST00000373965.2	-	29	4196	c.3802G>A	c.(3802-3804)Gaa>Aaa	p.E1268K	PCDH15_ENST00000361849.3_Missense_Mutation_p.E1261K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1261K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1266K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1224K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1261K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1268K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1239K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1261K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1190K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E872K|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1261					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATCTTTTTTTCCACTAGAGTA	0.284000										HNSCC(58;0.16)			8	11					0	0	0.004482	0	0
OS9	10956	broad.mit.edu	37	12	58112151	58112151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:58112151C>T	ENST00000315970.7	+	11	1398	c.1357C>T	c.(1357-1359)Cgt>Tgt	p.R453C	OS9_ENST00000435406.2_Missense_Mutation_p.R401C|OS9_ENST00000413095.2_Missense_Mutation_p.R247C|OS9_ENST00000551035.1_Missense_Mutation_p.R421C|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Missense_Mutation_p.R453C|OS9_ENST00000257966.8_Missense_Mutation_p.R454C|OS9_ENST00000439210.2_Missense_Mutation_p.R394C|OS9_ENST00000389142.5_Missense_Mutation_p.R453C|OS9_ENST00000389146.6_Missense_Mutation_p.R453C	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	453					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AGACCGGCTCCGTTCGGAGGT	0.572000													32	20					0	0	0.006230	0	0
SHC2	25759	broad.mit.edu	37	19	425229	425229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:425229G>A	ENST00000264554.6	-	10	1176	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	393	CH1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCCCCCGGTGGAGCTGGGGAG	0.731000													14	13					0	0	0.004007	0	0
DIO2	1734	broad.mit.edu	37	14	80669140	80669140	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:80669140A>G	ENST00000557010.1	-	4	1099	c.714T>C	c.(712-714)atT>atC	p.I238I	DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Silent_p.I274I|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Silent_p.I238I	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	238					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCAGATAAGCAATTTTCTGTC	0.493000													17	25					0	0	0.006122	0	0
OTUD4	54726	broad.mit.edu	37	4	146071734	146071734	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:146071734G>C	ENST00000454497.2	-	13	1132	c.995C>G	c.(994-996)tCa>tGa	p.S332*	OTUD4_ENST00000447906.2_Nonsense_Mutation_p.S397*|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	396							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTGTGACCCTGAAGAATGACT	0.443000													12	65					0	0	0.001855	0	0
FAM135B	51059	broad.mit.edu	37	8	139163733	139163733	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:139163733G>A	ENST00000395297.1	-	13	3155	c.2985C>T	c.(2983-2985)tcC>tcT	p.S995S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	995										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCAAAACCTGGGAATGAACGG	0.502000										HNSCC(54;0.14)			8	37					0	0	0.004482	0	0
ZFHX3	463	broad.mit.edu	37	16	72827165	72827165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:72827165G>A	ENST00000268489.5	-	9	10088	c.9416C>T	c.(9415-9417)cCa>cTa	p.P3139L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P2225L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3139					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGTGTTGGATGGAGTAAAGCC	0.547000													43	4					0	0	0.014410	0	0
TCF12	6938	broad.mit.edu	37	15	57356001	57356001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:57356001C>T	ENST00000267811.5	+	4	506	c.202C>T	c.(202-204)Cct>Tct	p.P68S	TCF12_ENST00000438423.2_Missense_Mutation_p.P68S|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000333725.5_Missense_Mutation_p.P68S|TCF12_ENST00000557843.1_Missense_Mutation_p.P68S	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	68					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCAACCAAGTCCTTCCTATGA	0.333000			T	TEC	extraskeletal myxoid chondrosarcoma								84	55					0	0	0.014410	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782976	115782976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:115782976G>A	ENST00000343348.6	-	19	3213	c.2426C>T	c.(2425-2427)cCc>cTc	p.P809L	SEMA6A_ENST00000257414.8_Missense_Mutation_p.P826L|SEMA6A_ENST00000513137.1_Missense_Mutation_p.P236L|SEMA6A_ENST00000510263.1_Missense_Mutation_p.P809L|SEMA6A_ENST00000503865.1_Missense_Mutation_p.P188L|SEMA6A_ENST00000282394.6_Missense_Mutation_p.P286L	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	809	Pro-rich.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GATGTGGCTGGGGGAGGCCCG	0.642000													26	35					0	0	0.003330	0	0
FAM71B	153745	broad.mit.edu	37	5	156589678	156589678	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:156589678T>C	ENST00000302938.4	-	2	1693	c.1598A>G	c.(1597-1599)aAg>aGg	p.K533R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	533						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAGCTGATCTTACTGGCTTT	0.478000													280	366					0	0	0.014410	0	0
BDKRB2	624	broad.mit.edu	37	14	96707441	96707441	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:96707441T>G	ENST00000542454.2	+	3	3783	c.695T>G	c.(694-696)tTc>tGc	p.F232C	BDKRB2_ENST00000554311.1_Missense_Mutation_p.F259C|BDKRB2_ENST00000306005.3_Missense_Mutation_p.F259C|BDKRB2_ENST00000539359.1_Missense_Mutation_p.F232C|RP11-404P21.8_ENST00000553811.1_Intron			P30411	BKRB2_HUMAN	bradykinin receptor B2	259					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ATGCAGAAGTTCAAGGAGATC	0.557000													6	22					0	0	0.001984	0	0
FMN2	56776	broad.mit.edu	37	1	240256544	240256544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:240256544G>A	ENST00000319653.9	+	1	1365	c.1135G>A	c.(1135-1137)Ggg>Agg	p.G379R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	379					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)			GCAGAGGCTGGGGGAAGAGCC	0.726000													10	1					0	0	0.006214	0	0
SYNE1	23345	broad.mit.edu	37	6	152712533	152712533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:152712533G>A	ENST00000367255.5	-	52	8484	c.7883C>T	c.(7882-7884)gCc>gTc	p.A2628V	SYNE1_ENST00000423061.1_Missense_Mutation_p.A2635V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2635V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A2628V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2667V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2628					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCTCCAGGGCTTCGTGCTC	0.577000										HNSCC(10;0.0054)			25	21					0	0	0.003330	0	0
MAP1A	4130	broad.mit.edu	37	15	43814986	43814986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:43814986G>A	ENST00000382031.1	+	5	2060	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	MAP1A_ENST00000399453.1_Missense_Mutation_p.E439K|MAP1A_ENST00000300231.5_Missense_Mutation_p.E439K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	439						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	aaggaaggaggagaagaagga	0.418000													8	0					0	0	0.003080	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99998825	99998825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:99998825C>T	ENST00000398027.2	-	18	2006	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E416K|ZCWPW1_ENST00000360951.4_Silent_p.K516K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E416K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	587							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGGCTCTTCTTTCGCAGAT	0.582000													17	19					0	0	0.004007	0	0
TXN2	25828	broad.mit.edu	37	22	36876738	36876738	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:36876738G>A	ENST00000216185.2	-	2	613	c.147C>T	c.(145-147)gcC>gcT	p.A49A	TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Silent_p.A49A|TXN2_ENST00000487725.1_5'UTR			Q99757	THIOM_HUMAN	thioredoxin 2	49					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						ATATTGTCCGGGCTGGGTTGG	0.557000													25	30					0	0	0.009535	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15890744	15890744	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:15890744G>A	ENST00000587443.2	-	0	53					NR_033864.1																						ACAGGATGGAGGGTGAGATCC	0.667000													5	6					0	0	0.001168	0	0
UNC79	57578	broad.mit.edu	37	14	94120130	94120130	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:94120130C>T	ENST00000553484.1	+	38	6463	c.6309C>T	c.(6307-6309)ttC>ttT	p.F2103F	UNC79_ENST00000393151.2_Silent_p.F2081F|UNC79_ENST00000555664.1_Silent_p.F2042F|UNC79_ENST00000256339.4_Silent_p.F1904F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2081						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCAAGCAGTTCCTGCGCTGCA	0.567000													116	143					0	0	0.014410	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103459816	103459816	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:103459816T>C	ENST00000602836.1	+	1	113	c.113T>C	c.(112-114)tTa>tCa	p.L38S	BIVM_ENST00000448849.2_Intron|BIVM_ENST00000419638.1_Missense_Mutation_p.Y67H|BIVM_ENST00000257336.1_Missense_Mutation_p.Y67H	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										GGAAAAAATTTATGCCATCTG	0.468000													41	33					0	0	0.013114	0	0
CEP72	55722	broad.mit.edu	37	5	637771	637771	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:637771G>A	ENST00000264935.5	+	7	1134	c.1044G>A	c.(1042-1044)caG>caA	p.Q348Q	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	348					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TTTCGGACCAGGAGGGTTTGG	0.582000													9	14					0	0	0.004482	0	0
ALK	238	broad.mit.edu	37	2	29497987	29497987	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:29497987C>T	ENST00000389048.3	-	11	2925	c.2019G>A	c.(2017-2019)caG>caA	p.Q673Q	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	673					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGATGGGGGTCTGTCTTGGTG	0.458000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				26	28					0	0	0.008361	0	0
ZHX2	22882	broad.mit.edu	37	8	123964304	123964304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:123964304C>T	ENST00000314393.4	+	3	1389	c.554C>T	c.(553-555)cCc>cTc	p.P185L		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	185						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTAAAACCCCCATCATGAAG	0.567000													41	23					0	0	0.009718	0	0
USH2A	7399	broad.mit.edu	37	1	216074170	216074170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:216074170G>A	ENST00000366943.2	-	39	7764	c.7378C>T	c.(7378-7380)Cgt>Tgt	p.R2460C	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.R2460C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2460	Fibronectin type-III 11.				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)		GCGTTATTACGAGCTGGTGTA	0.502000										HNSCC(13;0.011)			20	7					0	0	0.010504	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263496	232263496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:232263496C>T	ENST00000287590.5	+	2	1327	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	356					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CTCCCGGAACCGCAACAGCCG	0.642000													9	27					0	0	0.008291	0	0
PROCR	10544	broad.mit.edu	37	20	33760002	33760002	+	Silent	SNP	C	C	T	rs6142309		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:33760002C>T	ENST00000216968.4	+	1	127	c.45C>T	c.(43-45)gcC>gcT	p.A15A	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	15					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CTGGCTGGGCCTTTTGTAGCC	0.597000													29	43					0	0	0.006999	0	0
B9D2	80776	broad.mit.edu	37	19	41863861	41863861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41863861C>T	ENST00000243578.3	-	3	374	c.155G>A	c.(154-156)gGg>gAg	p.G52E	TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000539627.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	52	B9.				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			large_intestine(1)|ovary(1)	2						AGCCATGTCCCCTATCTGCGG	0.642000													17	24					0	0	0.010504	0	0
HUNK	30811	broad.mit.edu	37	21	33362477	33362477	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:33362477C>T	ENST00000270112.2	+	9	1653	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	431					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						ATCTTGAATTCCATGCCGTGC	0.443000													45	45					0	0	0.014410	0	0
KIF17	57576	broad.mit.edu	37	1	21014266	21014266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:21014266G>A	ENST00000247986.2	-	8	1863	c.1553C>T	c.(1552-1554)tCc>tTc	p.S518F	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Missense_Mutation_p.S518F|KIF17_ENST00000375044.1_Missense_Mutation_p.S418F			Q9P2E2	KIF17_HUMAN	kinesin family member 17	518					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AAACCTGGAGGAAACCTGAGT	0.542000													16	62					0	0	0.004990	0	0
GALE	2582	broad.mit.edu	37	1	24125210	24125210	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:24125210G>A	ENST00000374497.3	-	4	223	c.132C>T	c.(130-132)tcC>tcT	p.S44S	GALE_ENST00000470383.1_5'UTR	NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	44					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TCTCAGGCAGGGAGCCCCCTC	0.617000													4	11					0	0	0.000602	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602030	58602030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:58602030C>T	ENST00000287275.1	-	6	1147	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	GLYATL2_ENST00000532258.1_Missense_Mutation_p.E253K	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	253						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AATGGGATTTCTTTCTGAGAA	0.398000													27	27					0	0	0.009535	0	0
ENGASE	64772	broad.mit.edu	37	17	77082235	77082235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:77082235C>T	ENST00000579016.1	+	14	2036	c.2036C>T	c.(2035-2037)cCg>cTg	p.P679L		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	679						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGGGAGCTGCCGAGGCCAGAG	0.637000													26	20					0	0	0.003954	0	0
STAB2	55576	broad.mit.edu	37	12	104083682	104083682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:104083682C>T	ENST00000388887.2	+	29	3308	c.3104C>T	c.(3103-3105)tCc>tTc	p.S1035F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1035	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTCGTGCCTTCCCAACAAGCT	0.438000													33	20					0	0	0.004289	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89475863	89475863	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:89475863C>T	ENST00000484817.1	-	0	338																											CCTCAGCTTCCACCCTGCTGA	0.498000													23	36					0	0	0.006320	0	0
ABCA9	10350	broad.mit.edu	37	17	66978774	66978774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:66978774G>A	ENST00000340001.4	-	37	4860	c.4649C>T	c.(4648-4650)tCc>tTc	p.S1550F	ABCA9_ENST00000453985.2_Missense_Mutation_p.S1512F|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1550					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GACCATCAGGGAGGAGAACCT	0.458000													38	56					0	0	0.005524	0	0
UBE4B	10277	broad.mit.edu	37	1	10190589	10190589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:10190589C>T	ENST00000377157.3	+	12	2053	c.992C>T	c.(991-993)tCc>tTc	p.S331F	UBE4B_ENST00000343090.6_Missense_Mutation_p.S576F|UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000253251.8_Missense_Mutation_p.S447F	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	576					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTGCCGAAATCCTTAAGTCCT	0.488000													95	43					0	0	0.014410	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999138	92999138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:92999138C>T	ENST00000523629.1	-	8	1508	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E363K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E325K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E315K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E325K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E352K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E315K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E315K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	352	Important for oligomerization.				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)			TTCCACTCTTCTGCCCATTCT	0.368000													14	48					0	0	0.004007	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189135	7189135	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7189135A>C	ENST00000317370.8	+	10	1502	c.1234A>C	c.(1234-1236)Agc>Cgc	p.S412R	SLC2A4_ENST00000571308.1_Missense_Mutation_p.S412R|SLC2A4_ENST00000424875.2_Missense_Mutation_p.S402R	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	412					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGAGCTCTTCAGCCAGGGACC	0.567000													33	16					0	0	0.003755	0	0
IDE	3416	broad.mit.edu	37	10	94230032	94230032	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:94230032G>A	ENST00000265986.6	-	18	2243	c.2187C>T	c.(2185-2187)ctC>ctT	p.L729L	IDE_ENST00000371581.5_Silent_p.L174L|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	729					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTTTCCATGGAGAAGGGCTT	0.443000													207	252					0	0	0.014410	0	0
SLC26A6	65010	broad.mit.edu	37	3	48669322	48669322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:48669322G>A	ENST00000455886.2	-	5	684	c.637C>T	c.(637-639)Cct>Tct	p.P213S	SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000358747.6_Silent_p.S226S|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000420764.2_Silent_p.S247S|SLC26A6_ENST00000395550.2_Silent_p.S247S|SLC26A6_ENST00000383733.3_Silent_p.S247S					solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CATAGATGAGGGACAGTGGCC	0.587000													10	25					0	0	0.008291	0	0
HCN3	57657	broad.mit.edu	37	1	155254519	155254519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:155254519G>A	ENST00000368358.3	+	4	1068	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	354						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)			CCAGTCCCTGGACTCTTCCCG	0.612000													7	23					0	0	0.001984	0	0
MTTP	4547	broad.mit.edu	37	4	100503179	100503179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:100503179C>T	ENST00000457717.1	+	3	435	c.179C>T	c.(178-180)tCc>tTc	p.S60F	MTTP_ENST00000511045.1_Missense_Mutation_p.S87F|MTTP_ENST00000265517.5_Missense_Mutation_p.S60F|MTTP_ENST00000422897.2_Missense_Mutation_p.S60F	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	60	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TACCGCATTTCCTCCAACGTG	0.463000													44	28					0	0	0.014410	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460079	107460079	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:107460079T>A	ENST00000409382.3	-	2	965	c.355A>T	c.(355-357)Aaa>Taa	p.K119*	ST6GAL2_ENST00000361686.4_Nonsense_Mutation_p.K119*|ST6GAL2_ENST00000409087.3_Nonsense_Mutation_p.K119*	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	119					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTTTGAGATTTTCTCCCCACC	0.527000													32	58					0	0	0.003755	0	0
CLEC4M	10332	broad.mit.edu	37	19	7832468	7832468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:7832468C>T	ENST00000327325.5	+	6	1121	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*	CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000334806.5_Nonsense_Mutation_p.Q284*|CLEC4M_ENST00000248228.4_Nonsense_Mutation_p.Q313*|CLEC4M_ENST00000596707.1_Nonsense_Mutation_p.Q268*|CLEC4M_ENST00000359059.5_Nonsense_Mutation_p.Q268*|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000595496.1_Nonsense_Mutation_p.Q199*|CLEC4M_ENST00000394122.2_Nonsense_Mutation_p.Q323*	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	335	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGACCTAAATCAGGAAGGCAC	0.557000													23	28					0	0	0.006320	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64708988	64708988	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:64708988G>C	ENST00000338957.4	+	1	374	c.307G>C	c.(307-309)Gac>Cac	p.D103H	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D92H	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	92							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTAAACTTGACTTGGAGAA	0.493000													53	2					0	0	0.014410	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987938	154987938	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:154987938C>T	ENST00000368426.3	+	3	939	c.802C>T	c.(802-804)Cag>Tag	p.Q268*	ZBTB7B_ENST00000417934.2_Nonsense_Mutation_p.Q302*|ZBTB7B_ENST00000292176.2_Nonsense_Mutation_p.Q268*|ZBTB7B_ENST00000535420.1_Nonsense_Mutation_p.Q268*	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	268					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)			TGAGGGTCCCCAGAGCTACGA	0.677000													4	19					0	0	0.009096	0	0
VAT1L	57687	broad.mit.edu	37	16	77822714	77822714	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:77822714G>A	ENST00000302536.2	+	1	288	c.135G>A	c.(133-135)gtG>gtA	p.V45V		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	45							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TGCGCGCGGTGGTGCTGGCTG	0.697000													4	1					0	0	0.000602	0	0
LRRN1	57633	broad.mit.edu	37	3	3886559	3886559	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:3886559C>T	ENST00000319331.3	+	2	995	c.234C>T	c.(232-234)ctC>ctT	p.L78L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	78						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAGTGCTTCTCTTACAGAGCA	0.438000													15	31					0	0	0.004007	0	0
PPL	5493	broad.mit.edu	37	16	4935162	4935162	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:4935162T>A	ENST00000345988.2	-	22	3583	c.3494A>T	c.(3493-3495)aAc>aTc	p.N1165I	PPL_ENST00000590782.2_Missense_Mutation_p.N1163I	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1165					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CACTTTGGCGTTCTCCTCCTC	0.617000													35	38					0	0	0.005524	0	0
FAHD1	81889	broad.mit.edu	37	16	1877234	1877234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:1877234G>A	ENST00000382666.4	+	1	267	c.4G>A	c.(4-6)Gga>Aga	p.G2R	FAHD1_ENST00000382668.4_Missense_Mutation_p.G2R|FAHD1_ENST00000427358.2_Missense_Mutation_p.G2R	NM_001018104.2	NP_001018114.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	2						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						GCACTTGATGGGAATCATGGC	0.632000													17	13					0	0	0.006122	0	0
P4HA3	283208	broad.mit.edu	37	11	74009403	74009403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:74009403C>T	ENST00000331597.4	-	4	616	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	P4HA3_ENST00000427714.2_Missense_Mutation_p.A191T	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	191						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					ATGTCATAGGCCACCTACACA	0.463000													64	66					0	0	0.014410	0	0
ACAP1	9744	broad.mit.edu	37	17	7251270	7251270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7251270G>A	ENST00000158762.3	+	15	1579	c.1373G>A	c.(1372-1374)cGg>cAg	p.R458Q		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	458	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TCCAAAGTCCGGTCTCTGACC	0.602000													25	26					0	0	0.012213	0	0
ALG13	79868	broad.mit.edu	37	X	110951286	110951286	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:110951286A>G	ENST00000394780.3	+	4	427	c.415A>G	c.(415-417)Att>Gtt	p.I139V	ALG13_ENST00000251943.4_Missense_Mutation_p.I35V|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	139					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						AGCCAAGTCCATTGCTTCTGC	0.517000													12	0					0	0	0.013537	0	0
NIPSNAP3A	25934	broad.mit.edu	37	9	107521577	107521577	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:107521577G>A	ENST00000374767.4	+	6	807	c.702G>A	c.(700-702)caG>caA	p.Q234Q		NM_015469.1	NP_056284.1			nipsnap homolog 3A (C. elegans)									p.Q234Q(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TATCTCAGCAGAATATGCTTC	0.338000													9	33					0	0	0.010729	0	0
ASL	435	broad.mit.edu	37	7	65546834	65546834	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:65546834C>T	ENST00000304874.9	+	3	159	c.57C>T	c.(55-57)ccC>ccT	p.P19P	ASL_ENST00000395331.3_Silent_p.P19P|ASL_ENST00000380839.4_Silent_p.P19P|ASL_ENST00000395332.3_Silent_p.P19P	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	19					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CAGTGGACCCCATCATGGAGA	0.577000													23	11					0	0	0.003330	0	0
TMEM26	219623	broad.mit.edu	37	10	63188866	63188866	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:63188866C>T	ENST00000399298.3	-	4	791	c.423G>A	c.(421-423)gaG>gaA	p.E141E	TMEM26_ENST00000399293.1_Silent_p.E141E	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	141						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TCCAAACTTTCTCACATACTG	0.398000													10	9					0	0	0.008291	0	0
SHANK1	50944	broad.mit.edu	37	19	51192545	51192545	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:51192545G>A	ENST00000391813.1	-	1	116	c.117C>T	c.(115-117)ctC>ctT	p.L39L	SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000391814.1_Intron|SHANK1_ENST00000359082.3_Intron			Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1222					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGCTGGCAGGGAGGCAGGAGA	0.597000													20	33					0	0	0.008871	0	0
PRH1	5554	broad.mit.edu	37	12	11035181	11035181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:11035181G>A	ENST00000428168.2	-	3	254	c.217C>T	c.(217-219)Cca>Tca	p.P73S	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	73						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		TGTTGGGGTGGTCCCTGCTGA	0.597000													26	23					0	0	0.004878	0	0
MYO7B	4648	broad.mit.edu	37	2	128394369	128394369	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:128394369G>A	ENST00000389524.4	+	46	6186	c.6132_splice	c.e46-1	p.D2045_splice	MYO7B_ENST00000428314.1_Splice_Site_p.D2044_splice|MYO7B_ENST00000409816.2_Splice_Site_p.D2044_splice|MYO7B_ENST00000409090.1_Splice_Site_p.D897_splice			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2044	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTGCCCCCAGGACCTGCTCAC	0.657000													29	18					0	0	0.007291	0	0
COL4A3	1285	broad.mit.edu	37	2	228141171	228141171	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:228141171T>A	ENST00000396578.3	+	27	2160	c.1998T>A	c.(1996-1998)caT>caA	p.H666Q	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	666	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCCCTGGCCATCCTGGCCCCC	0.542000													25	19					0	0	0.007291	0	0
WFDC9	259240	broad.mit.edu	37	20	44237383	44237383	+	Missense_Mutation	SNP	C	C	T	rs141099778		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:44237383C>T	ENST00000326000.1	-	4	375	c.158G>A	c.(157-159)aGg>aAg	p.R53K		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	53						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				TTTAGTACACCTTTTCTCACA	0.438000													35	40					0	0	0.004289	0	0
TAGAP	117289	broad.mit.edu	37	6	159457400	159457400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:159457400C>T	ENST00000367066.3	-	10	1986	c.1655G>A	c.(1654-1656)cGa>cAa	p.R552Q	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R374Q|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	552					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTGCACGATTCGGCCGGCAAG	0.592000													53	58					0	0	0.014410	0	0
MYO7B	4648	broad.mit.edu	37	2	128341881	128341881	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:128341881C>T	ENST00000389524.4	+	13	1581	c.1528C>T	c.(1528-1530)Ctg>Ttg	p.L510L	MYO7B_ENST00000428314.1_Silent_p.L510L|MYO7B_ENST00000409816.2_Silent_p.L510L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	510	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CATCTCCCTCCTGGACGAAGA	0.607000													9	33					0	0	0.010729	0	0
GRIP2	80852	broad.mit.edu	37	3	14549103	14549103	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:14549103C>T	ENST00000273083.3	-	0	2248							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GTGTGACGGTCTCTCCAGCCA	0.602000													8	32					0	0	0.004482	0	0
SPATA16	83893	broad.mit.edu	37	3	172835237	172835237	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:172835237C>T	ENST00000351008.3	-	2	468	c.285G>A	c.(283-285)aaG>aaA	p.K95K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	95					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.K95N(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTGCCTGTTTCTTTCTAGTTG	0.388000													69	47					0	0	0.014410	0	0
RP1	6101	broad.mit.edu	37	8	55540513	55540513	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:55540513T>G	ENST00000220676.1	+	4	4219	c.4071T>G	c.(4069-4071)gaT>gaG	p.D1357E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1357					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAACTTGGATTCAACTGAAG	0.353000													25	17					0	0	0.004656	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15443838	15443838	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:15443838G>A	ENST00000295297.4	+	3	565	c.306G>A	c.(304-306)ggG>ggA	p.G102G	C1QTNF7_ENST00000429690.1_Silent_p.G95G|C1QTNF7_ENST00000444304.2_Silent_p.G95G	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	95	Collagen-like.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GTGAGAAAGGGGACCAAGGAG	0.468000													46	45					0	0	0.014410	0	0
NALCN	259232	broad.mit.edu	37	13	101759918	101759918	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:101759918G>A	ENST00000251127.6	-	22	2580	c.2499C>T	c.(2497-2499)ttC>ttT	p.F833F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	833						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGGCTTATCGAAGTATGGGT	0.478000													21	33					0	0	0.014323	0	0
AXL	558	broad.mit.edu	37	19	41727798	41727798	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41727798C>T	ENST00000301178.4	+	4	613	c.423C>T	c.(421-423)ttC>ttT	p.F141F	CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000359092.3_Silent_p.F141F|AXL_ENST00000594880.1_3'UTR	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	141	Ig-like C2-type 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGCCTTACTTCCTGGAGGAGC	0.637000													15	20					0	0	0.004990	0	0
HYDIN	54768	broad.mit.edu	37	16	70852311	70852311	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:70852311G>A	ENST00000393567.2	-	84	14742	c.14592C>T	c.(14590-14592)ttC>ttT	p.F4864F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4864										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTCCGTGGAGAAGGTCACCG	0.612000													6	0					0	0	0.004482	0	0
C8orf22	492307	broad.mit.edu	37	8	49986891	49986891	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:49986891G>A	ENST00000303202.8	+	4	405	c.233_splice	c.e4+1	p.G78_splice	C8orf22_ENST00000517663.1_Splice_Site_p.G78_splice|C8orf22_ENST00000399653.4_Splice_Site_p.G78_splice|C8orf22_ENST00000522267.1_Splice_Site_p.G78_splice	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	78										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GTCTGCTACTGGGTGAGTTTT	0.408000													7	17					0	0	0.003080	0	0
COL19A1	1310	broad.mit.edu	37	6	70812072	70812072	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:70812072G>A	ENST00000322773.4	+	16	1338	c.1236G>A	c.(1234-1236)ggG>ggA	p.G412G	COL19A1_ENST00000393344.1_Silent_p.G34G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	412	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAAGACGAGGGAAAACAGGAC	0.383000													11	26					0	0	0.013537	0	0
CACNA1F	778	broad.mit.edu	37	X	49071939	49071939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:49071939C>T	ENST00000376265.2	-	28	3395	c.3334G>A	c.(3334-3336)Gag>Aag	p.E1112K	CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1101K|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1047K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1112	Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ACTGAGATCTCCACACGGTAA	0.517000													12	0					0	0	0.002450	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784598	140784598	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:140784598C>T	ENST00000573521.1	+	1	2079	c.2079C>T	c.(2077-2079)ctC>ctT	p.L693L	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCTACCTCGTTGTGGCTG	0.597000													51	69					0	0	0.014410	0	0
SGMS1	259230	broad.mit.edu	37	10	52067903	52067903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:52067903G>A	ENST00000361781.2	-	10	1860	c.901C>T	c.(901-903)Cct>Tct	p.P301S	SGMS1_ENST00000429490.1_Missense_Mutation_p.P132S	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	307					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AGTCGCCGAGGGGAATCTGAA	0.463000													11	12					0	0	0.010729	0	0
BCLAF1	9774	broad.mit.edu	37	6	136594245	136594245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:136594245G>A	ENST00000531224.1	-	7	2185	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W	BCLAF1_ENST00000530767.1_Missense_Mutation_p.R472W|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R643W|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R643W|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R645W|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R643W	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	645					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R645W(1)		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)		CTCTTTTGCCGAGTACTATGT	0.393000													6	40					0	0	0.001168	0	0
TOM1	10043	broad.mit.edu	37	22	35719514	35719514	+	Missense_Mutation	SNP	C	C	T	rs146672758		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:35719514C>T	ENST00000382034.5	+	6	533	c.191C>T	c.(190-192)tCg>tTg	p.S64L	TOM1_ENST00000447733.1_Missense_Mutation_p.S98L|TOM1_ENST00000411850.1_Missense_Mutation_p.S131L|TOM1_ENST00000436462.2_Missense_Mutation_p.S93L|TOM1_ENST00000425375.1_Intron|TOM1_ENST00000449058.2_Missense_Mutation_p.S131L			O60784	TOM1_HUMAN	target of myb1 (chicken)	131	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TTCCGCAGCTCGCCCGATCTG	0.612000													51	31					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25458861	25458861	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:25458861G>A	ENST00000424208.1	+	0	2694				SNHG14_ENST00000424333.1_RNA|SNORD115-24_ENST00000363528.1_RNA	NR_003305.1																						TGCTCAATAGGATTACGCTGA	0.493000													63	91					0	0	0.014410	0	0
MAGI2	9863	broad.mit.edu	37	7	77755155	77755155	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:77755155C>T	ENST00000354212.4	-	20	3677		c.e20-1		MAGI2_ENST00000419488.1_Splice_Site|MAGI2_ENST00000522391.1_Splice_Site	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2							cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AATCAAAATCCTTTGGGGTTG	0.378000													13	22					0	0	0.001855	0	0
FBN2	2201	broad.mit.edu	37	5	127727722	127727722	+	Missense_Mutation	SNP	C	C	T	rs34450503	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:127727722C>T	ENST00000508053.1	-	17	2566	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	FBN2_ENST00000508989.1_Missense_Mutation_p.G498E|FBN2_ENST00000262464.4_Missense_Mutation_p.G531E			P35556	FBN2_HUMAN	fibrillin 2	531	EGF-like 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TATACAATCTCCATTTGCATC	0.328000													30	25					0	0	0.003271	0	0
GGA2	23062	broad.mit.edu	37	16	23489758	23489758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:23489758C>T	ENST00000309859.4	-	13	1305	c.1223G>A	c.(1222-1224)gGt>gAt	p.G408D	GGA2_ENST00000567468.1_Intron|GGA2_ENST00000569182.1_5'UTR	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	408	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GTTCTGAACACCACCGCCTGG	0.547000													25	43					0	0	0.009535	0	0
SPAG17	200162	broad.mit.edu	37	1	118567966	118567966	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:118567966G>A	ENST00000336338.5	-	27	3869	c.3804C>T	c.(3802-3804)caC>caT	p.H1268H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1268						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGAACTCATAGTGCTTCACCC	0.463000													27	10					0	0	0.004656	0	0
OR52K2	119774	broad.mit.edu	37	11	4470611	4470611	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:4470611C>T	ENST00000325719.4	+	1	87	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAACTGCCTTCTTGTTGGTGG	0.507000													16	17					0	0	0.006122	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6093389	6093389	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:6093389G>A	ENST00000400104.3	-	15	1538	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	L3MBTL4_ENST00000400105.2_Silent_p.F446F|L3MBTL4_ENST00000535782.1_Silent_p.F259F|L3MBTL4_ENST00000284898.6_Silent_p.F446F|L3MBTL4_ENST00000317931.7_Silent_p.F446F			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	446					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GTTTTCCATTGAAGTTCAAAC	0.363000													29	21					0	0	0.006320	0	0
WDFY1	57590	broad.mit.edu	37	2	224749382	224749382	+	Missense_Mutation	SNP	T	T	C	rs61738569		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:224749382T>C	ENST00000233055.4	-	9	1018	c.916A>G	c.(916-918)Acg>Gcg	p.T306A		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	306						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		AGCCCCAGCGTCTTGGTGTCC	0.453000													67	151					0	0	0.014410	0	0
SNAP91	9892	broad.mit.edu	37	6	84366533	84366533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:84366533G>A	ENST00000428679.2	-	7	1191	c.598C>T	c.(598-600)Ctt>Ttt	p.L200F	SNAP91_ENST00000521743.1_Missense_Mutation_p.L200F|SNAP91_ENST00000369694.2_Missense_Mutation_p.L200F|SNAP91_ENST00000521485.1_Missense_Mutation_p.L200F|SNAP91_ENST00000437520.1_Missense_Mutation_p.L200F|SNAP91_ENST00000195649.6_Missense_Mutation_p.L200F|SNAP91_ENST00000439399.2_Missense_Mutation_p.L200F|SNAP91_ENST00000520213.1_Missense_Mutation_p.L200F|SNAP91_ENST00000520302.1_Missense_Mutation_p.L200F			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	200					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCTTTGAAAAGAAGCATAAAT	0.343000													9	10					0	0	0.008291	0	0
C3orf18	51161	broad.mit.edu	37	3	50598400	50598400	+	Missense_Mutation	SNP	C	C	T	rs140626565		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:50598400C>T	ENST00000357203.3	-	5	895	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	C3orf18_ENST00000486175.1_5'UTR|C3orf18_ENST00000441239.1_Missense_Mutation_p.R99Q|C3orf18_ENST00000422619.1_Missense_Mutation_p.R67Q|C3orf18_ENST00000426034.1_Missense_Mutation_p.R119Q|C3orf18_ENST00000449241.1_Missense_Mutation_p.R119Q	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	119						integral to membrane				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		GGCGGCGTCCCGCCCATGCTC	0.632000													18	38					0	0	0.006122	0	0
IREB2	3658	broad.mit.edu	37	15	78781069	78781069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:78781069C>T	ENST00000258886.8	+	16	2181	c.2032C>T	c.(2032-2034)Cat>Tat	p.H678Y		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	678							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGAGGAAGAACATGTTATACT	0.328000													20	29					0	0	0.002780	0	0
DERL2	51009	broad.mit.edu	37	17	5378037	5378037	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:5378037G>A	ENST00000158771.4	-	7	742	c.687C>T	c.(685-687)ttC>ttT	p.F229F	DERL2_ENST00000572834.1_3'UTR|DERL2_ENST00000570848.1_3'UTR	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	229					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						CACCCCAGGCGAAGCCTCCTG	0.488000													25	56					0	0	0.009535	0	0
CHCHD2	51142	broad.mit.edu	37	7	56174059	56174059	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:56174059G>A	ENST00000395422.3	-	1	210	c.48C>T	c.(46-48)gcC>gcT	p.A16A		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	16						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGTCTCACCTGGCCGGAGGGG	0.667000													31	6					0	0	0.008740	0	0
LAMB2	3913	broad.mit.edu	37	3	49168500	49168500	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49168500G>A	ENST00000418109.1	-	8	962	c.798C>T	c.(796-798)atC>atT	p.I266I	LAMB2_ENST00000305544.4_Silent_p.I266I	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	266	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.I266M(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTTCTCTCGGATCTCCCTCC	0.582000													19	16					0	0	0.012319	0	0
TPCN1	53373	broad.mit.edu	37	12	113723740	113723740	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:113723740G>A	ENST00000550785.1	+	19	1885	c.1716G>A	c.(1714-1716)gtG>gtA	p.V572V	TPCN1_ENST00000541517.1_Silent_p.V572V|TPCN1_ENST00000392569.4_Silent_p.V432V|TPCN1_ENST00000335509.6_Silent_p.V500V	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	500						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGGGCCCTGTGGAGTACTTGT	0.582000													34	25					0	0	0.006999	0	0
ZNF70	7621	broad.mit.edu	37	22	24086713	24086713	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:24086713G>A	ENST00000341976.3	-	2	1075	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	205						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGCTCTGGCGGAAGGCCTTCC	0.622000													11	16					0	0	0.010729	0	0
ITPR2	3709	broad.mit.edu	37	12	26634117	26634117	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:26634117T>C	ENST00000381340.3	-	43	6486	c.6070A>G	c.(6070-6072)Aat>Gat	p.N2024D		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2024					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTTATGTCATTCAGAATCAAA	0.378000													22	10					0	0	0.003954	0	0
CAPN9	10753	broad.mit.edu	37	1	230923331	230923331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:230923331G>A	ENST00000354537.1	+	12	1586	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.E465K|CAPN9_ENST00000271971.2_Missense_Mutation_p.E528K|RP11-99J16__A.2_ENST00000452640.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	528	Domain III.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGCTCTGTTTGAACAAGTCGC	0.552000													7	45					0	0	0.003080	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846095	18846095	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:18846095G>A	ENST00000412938.1	+	0	3453																											TCCATGCCTCGGCGCTCGATC	0.627000													5	24					0	0	0.003080	0	0
EPHA8	2046	broad.mit.edu	37	1	22915768	22915768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:22915768G>A	ENST00000374644.4	+	5	1456	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	EPHA8_ENST00000166244.3_Intron|EPHA8_ENST00000538803.1_Missense_Mutation_p.D462N	NM_001006943.1	NP_001006944.1	P29322	EPHA8_HUMAN	EPH receptor A8	0	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCATCCAGGGATCAGAGCTC	0.642000													10	34					0	0	0.013537	0	0
ALB	213	broad.mit.edu	37	4	74276044	74276044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:74276044G>A	ENST00000295897.4	+	6	720	c.631G>A	c.(631-633)Gat>Aat	p.D211N	ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Missense_Mutation_p.D96N|ALB_ENST00000503124.1_Missense_Mutation_p.D61N|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.D211N	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	211	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGAACTTCGGGATGAAGGGAA	0.388000													21	46					0	0	0.012319	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512682	70512682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:70512682C>T	ENST00000503640.1	-	1	736	c.681G>A	c.(679-681)tgG>tgA	p.W227*	UGT2A1_ENST00000512704.1_Nonsense_Mutation_p.W227*|UGT2A1_ENST00000514019.1_Nonsense_Mutation_p.W227*|UGT2A1_ENST00000286604.4_Nonsense_Mutation_p.W227*	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	227					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						CCCATGATTTCCAAAGAGTTT	0.343000													6	6					0	0	0.001168	0	0
TRIO	7204	broad.mit.edu	37	5	14369569	14369569	+	Silent	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:14369569T>A	ENST00000344204.4	+	18	3177	c.3153T>A	c.(3151-3153)tcT>tcA	p.S1051S	TRIO_ENST00000509967.2_Silent_p.S1002S|TRIO_ENST00000537187.1_Silent_p.S1051S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1051					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCCAAACTCTGAGACGGACC	0.597000													28	45					0	0	0.008361	0	0
CNTN4	152330	broad.mit.edu	37	3	2942482	2942482	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:2942482A>T	ENST00000397461.1	+	10	1438	c.1054A>T	c.(1054-1056)Aat>Tat	p.N352Y	CNTN4_ENST00000358480.3_Missense_Mutation_p.N133Y|CNTN4_ENST00000427331.1_Missense_Mutation_p.N352Y|CNTN4_ENST00000397459.2_Missense_Mutation_p.N24Y|CNTN4_ENST00000418658.1_Missense_Mutation_p.N352Y|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Missense_Mutation_p.N24Y	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	352	Ig-like C2-type 4.				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)		GTGGCTAAAAAATGGCGAACC	0.398000													19	13					0	0	0.008871	0	0
OR2S2	56656	broad.mit.edu	37	9	35957264	35957264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:35957264C>T	ENST00000341959.2	-	1	887	c.832G>A	c.(832-834)Gac>Aac	p.D278N		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			ATGAGTTTGTCTGAAAGATCC	0.507000													25	37					0	0	0.005443	0	0
FAM83E	54854	broad.mit.edu	37	19	49104498	49104498	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:49104498G>A	ENST00000263266.3	-	5	1494	c.1305C>T	c.(1303-1305)ccC>ccT	p.P435P		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	435										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGCGGTGGGCGGGGGGCAGGG	0.692000													12	11					0	0	0.003163	0	0
MYH1	4619	broad.mit.edu	37	17	10419324	10419324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10419324C>T	ENST00000226207.5	-	5	518	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	142	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			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						CCTCGGTAGGCTGTCACCACC	0.527000													53	28					0	0	0.014410	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56702306	56702306	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56702306G>A	ENST00000586855.2	-	4	952	c.639C>T	c.(637-639)aaC>aaT	p.N213N	ZSCAN5B_ENST00000358992.3_Silent_p.N213N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	213					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTCTCGGAGAGTTTGGGTCAC	0.502000													40	48					0	0	0.013114	0	0
CD1C	911	broad.mit.edu	37	1	158261165	158261165	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:158261165C>T	ENST00000368170.3	+	2	582	c.303C>T	c.(301-303)gaC>gaT	p.D101D		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	101					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGATTCAAGACCATGCAAGTC	0.363000													15	50					0	0	0.004007	0	0
MYO1H	283446	broad.mit.edu	37	12	109865298	109865298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:109865298G>A	ENST00000310903.5	+	19	1914	c.1808G>A	c.(1807-1809)aGg>aAg	p.R603K	MYO1H_ENST00000431443.2_Missense_Mutation_p.R613K			B4DNW6	B4DNW6_HUMAN	myosin IH	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						TTCCTCATAAGGCATCAGATC	0.463000													103	87					0	0	0.014410	0	0
PLCB1	23236	broad.mit.edu	37	20	8707983	8707983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:8707983C>T	ENST00000378641.3	+	17	2181	c.1706C>T	c.(1705-1707)tCc>tTc	p.S569F	PLCB1_ENST00000378637.2_Missense_Mutation_p.S569F|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.S569F	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	569	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAAATGTCTTCCTTCGTGGAA	0.343000													5	11					0	0	0.000602	0	0
IQCC	55721	broad.mit.edu	37	1	32672920	32672920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:32672920G>A	ENST00000537469.1	+	5	925	c.878G>A	c.(877-879)gGg>gAg	p.G293E	IQCC_ENST00000291358.6_Missense_Mutation_p.G213E	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	213										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTAGAACATGGGGAACAGGCC	0.557000													36	15					0	0	0.003755	0	0
MAST4	375449	broad.mit.edu	37	5	66440620	66440620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:66440620G>A	ENST00000404260.3	+	22	3171	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	MAST4_ENST00000403625.2_Missense_Mutation_p.E952K|MAST4_ENST00000405643.1_Missense_Mutation_p.E773K|MAST4_ENST00000403666.1_Missense_Mutation_p.E763K|MAST4_ENST00000261569.7_Missense_Mutation_p.E758K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	955						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAATATTCTGAAATGTATGT	0.413000													4	10					0	0	0.009096	0	0
CASR	846	broad.mit.edu	37	3	121980728	121980728	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:121980728G>A	ENST00000498619.1	+	4	1284	c.846G>A	c.(844-846)gaG>gaA	p.E282E	CASR_ENST00000490131.1_Silent_p.E282E|CASR_ENST00000296154.5_Silent_p.E282E	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	282					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCATCAAGGAGATTGTCCGGC	0.567000													16	42					0	0	0.004007	0	0
DZANK1	55184	broad.mit.edu	37	20	18374412	18374412	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:18374412G>A	ENST00000357236.4	-	18	2069	c.1410C>T	c.(1408-1410)atC>atT	p.I470I	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Silent_p.I584I|DZANK1_ENST00000377630.5_Silent_p.I417I|DZANK1_ENST00000329494.5_Intron			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	411						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TTATCCTTTTGATTTTTTCAA	0.398000													15	25					0	0	0.004007	0	0
C8orf22	492307	broad.mit.edu	37	8	49985432	49985432	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:49985432C>T	ENST00000303202.8	+	2	216	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	C8orf22_ENST00000517663.1_Nonsense_Mutation_p.Q15*|C8orf22_ENST00000399653.4_Nonsense_Mutation_p.Q15*|C8orf22_ENST00000522267.1_Nonsense_Mutation_p.Q15*	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	15										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				AGCCAGAAATCAGTATTATCG	0.423000													46	32					0	0	0.014410	0	0
SPTB	6710	broad.mit.edu	37	14	65259764	65259764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:65259764C>T	ENST00000389722.3	-	13	2670	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	SPTB_ENST00000389720.3_Missense_Mutation_p.E873K|SPTB_ENST00000389721.5_Missense_Mutation_p.E873K|SPTB_ENST00000556626.1_Missense_Mutation_p.E873K|SPTB_ENST00000542895.1_Missense_Mutation_p.E873K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	873					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ATTTCCATCTCGGCCAGCCAC	0.602000													19	1					0	0	0.012319	0	0
PITPNM2	57605	broad.mit.edu	37	12	123481385	123481385	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:123481385G>A	ENST00000280562.5	-	11	1750	c.1545C>T	c.(1543-1545)ccC>ccT	p.P515P	PITPNM2_ENST00000542749.1_Silent_p.P515P|PITPNM2_ENST00000392428.1_Silent_p.P236P|PITPNM2_ENST00000320201.4_Silent_p.P515P			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	515					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGGCCAGCAGGGGGAGGGCAG	0.632000													26	33					0	0	0.005443	0	0
KBTBD12	166348	broad.mit.edu	37	3	127646676	127646676	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:127646676G>A	ENST00000343941.4	+	2	205	c.66_splice	c.e2+1	p.W22_splice	KBTBD12_ENST00000407609.3_5'UTR|KBTBD12_ENST00000405256.1_Silent_p.L380L|KBTBD12_ENST00000405109.1_Silent_p.L380L|KBTBD12_ENST00000492025.1_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	0			Q -> K (in dbSNP:rs4141499).							endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TCTATGCTCTGGGCAGTATTC	0.373000													29	18					0	0	0.010818	0	0
DMBT1	1755	broad.mit.edu	37	10	124396734	124396734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:124396734C>T	ENST00000338354.3	+	51	6567	c.6461C>T	c.(6460-6462)tCc>tTc	p.S2154F	DMBT1_ENST00000368956.2_Missense_Mutation_p.S1526F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2144F|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2144F|DMBT1_ENST00000359586.6_Missense_Mutation_p.S874F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1526F|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2154F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2154	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTTGTCATTTCCACCTGGAAT	0.517000													26	35					0	0	0.004656	0	0
PKD1L1	168507	broad.mit.edu	37	7	47892794	47892794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:47892794G>A	ENST00000289672.2	-	31	4941	c.4891C>T	c.(4891-4893)Ctt>Ttt	p.L1631F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1631					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCTTCACAAGAAAATCAGAG	0.378000													37	7					0	0	0.005524	0	0
CREB3L1	90993	broad.mit.edu	37	11	46341928	46341928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:46341928C>T	ENST00000529193.1	+	11	1823	c.1372C>T	c.(1372-1374)Ccg>Tcg	p.P458S	CREB3L1_ENST00000288400.3_Missense_Mutation_p.P458S			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	458					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CCCCGGGGGGCCGGCAGAGCA	0.647000			T	FUS	myxofibrosarcoma								6	2					0	0	0.001984	0	0
CDC25C	995	broad.mit.edu	37	5	137621721	137621721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:137621721G>A	ENST00000323760.6	-	13	1540	c.1262C>T	c.(1261-1263)cCa>cTa	p.P421L	CDC25C_ENST00000357274.3_Missense_Mutation_p.P378L|CDC25C_ENST00000348983.3_Missense_Mutation_p.P348L|CDC25C_ENST00000356505.3_Missense_Mutation_p.P391L|CDC25C_ENST00000415130.2_Missense_Mutation_p.P348L|CDC25C_ENST00000514555.1_Missense_Mutation_p.P391L|CDC25C_ENST00000513970.1_Missense_Mutation_p.P421L	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	421	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding	p.P421L(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATATATTCTGGAAAGAAGTC	0.502000													38	49					0	0	0.013114	0	0
KIAA1244	57221	broad.mit.edu	37	6	138601299	138601299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:138601299C>T	ENST00000251691.4	+	14	2625	c.2459C>T	c.(2458-2460)aCc>aTc	p.T820I		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	820					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACAATGCTGACCGGTCAGTGG	0.562000													4	9					0	0	0.009096	0	0
C5orf42	65250	broad.mit.edu	37	5	37170386	37170386	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:37170386G>A	ENST00000274258.7	-	33	6446	c.2859C>T	c.(2857-2859)tcC>tcT	p.S953S	C5orf42_ENST00000508244.1_Silent_p.S2073S|C5orf42_ENST00000425232.2_Silent_p.S2073S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2073										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GATTAGCAAAGGATGATCCTA	0.368000													37	57					0	0	0.007835	0	0
AMPD1	270	broad.mit.edu	37	1	115220124	115220124	+	Silent	SNP	C	C	T	rs141829342		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:115220124C>T	ENST00000369538.3	-	9	1370	c.1323G>A	c.(1321-1323)gcG>gcA	p.A441A	AMPD1_ENST00000520113.2_Silent_p.A445A|AMPD1_ENST00000353928.6_Silent_p.A412A	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	412					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.A445A(1)|p.A412A(1)		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)	CCACCAGGTCCGCACCTACCT	0.567000													26	5					0	0	0.006320	0	0
CDC25C	995	broad.mit.edu	37	5	137621722	137621722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:137621722G>A	ENST00000323760.6	-	13	1539	c.1261C>T	c.(1261-1263)Cca>Tca	p.P421S	CDC25C_ENST00000357274.3_Missense_Mutation_p.P378S|CDC25C_ENST00000348983.3_Missense_Mutation_p.P348S|CDC25C_ENST00000356505.3_Missense_Mutation_p.P391S|CDC25C_ENST00000415130.2_Missense_Mutation_p.P348S|CDC25C_ENST00000514555.1_Missense_Mutation_p.P391S|CDC25C_ENST00000513970.1_Missense_Mutation_p.P421S	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	421	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATATATTCTGGAAAGAAGTCT	0.507000													38	49					0	0	0.013114	0	0
LRRC48	83450	broad.mit.edu	37	17	17907698	17907698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:17907698G>A	ENST00000313838.8	+	11	1400	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	LRRC48_ENST00000399182.1_Missense_Mutation_p.E341K|LRRC48_ENST00000399187.1_Missense_Mutation_p.E341K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E341K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E341K	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	341						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CATTCGAGAGGAGTTGGAACT	0.443000													3	5					0	0	0.009096	0	0
EHD2	30846	broad.mit.edu	37	19	48220248	48220248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:48220248C>T	ENST00000263277.3	+	2	630	c.379C>T	c.(379-381)Cct>Tct	p.P127S	CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Intron	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	127					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CAAACTCAACCCTTTCGGAAA	0.587000													29	29					0	0	0.010818	0	0
FAM129A	116496	broad.mit.edu	37	1	184800994	184800994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:184800994C>T	ENST00000367511.3	-	6	897	c.704G>A	c.(703-705)gGg>gAg	p.G235E	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	235					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GATTTCATCCCCAGTGATCAT	0.408000													8	50					0	0	0.004482	0	0
ZNF835	90485	broad.mit.edu	37	19	57175706	57175706	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:57175706G>A	ENST00000537055.2	-	2	1092	c.861C>T	c.(859-861)ttC>ttT	p.F287F		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGATCTGCGCGAAGGCCTTGG	0.697000													6	2					0	0	0.001984	0	0
GSTM4	2948	broad.mit.edu	37	1	110207637	110207637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:110207637C>T	ENST00000326729.5	+	8	840	c.572C>T	c.(571-573)tCc>tTc	p.S191F		NM_147148.2	NP_671489.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TTCTAGGTTTCCTGTGGCATA	0.408000													48	14					0	0	0.011902	0	0
ZMYND8	23613	broad.mit.edu	37	20	45874881	45874881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:45874881G>A	ENST00000311275.7	-	14	2348	c.2095C>T	c.(2095-2097)Cca>Tca	p.P699S	ZMYND8_ENST00000372023.3_Missense_Mutation_p.P694S|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P719S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P719S|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P694S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P719S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P699S|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P726S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P699S|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P694S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P647S|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P636S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P699S			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	699							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGGACTGTTGGGGAATCCGTC	0.483000													51	69					0	0	0.014410	0	0
FLG	2312	broad.mit.edu	37	1	152282785	152282785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:152282785C>T	ENST00000368799.1	-	3	4612	c.4577G>A	c.(4576-4578)gGa>gAa	p.G1526E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1526	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)			ATCAGACCTTCCCTGGGGTGT	0.572000									Ichthyosis				72	225					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9089128	9089128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9089128G>A	ENST00000397910.4	-	1	2890	c.2687C>T	c.(2686-2688)cCa>cTa	p.P896L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	896	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						GGGGAATACTGGGGTAGGGAC	0.517000													10	8					0	0	0.010729	0	0
ZNF425	155054	broad.mit.edu	37	7	148802302	148802302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:148802302G>A	ENST00000378061.2	-	4	793	c.661C>T	c.(661-663)Cca>Tca	p.P221S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	221					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTGTACTTTGGGTATCTGCAG	0.507000													21	35					0	0	0.014323	0	0
TMEM74	157753	broad.mit.edu	37	8	109796663	109796663	+	Missense_Mutation	SNP	G	G	C	rs61753521		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:109796663G>C	ENST00000297459.3	-	2	843	c.665C>G	c.(664-666)gCg>gGg	p.A222G	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	222					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CCCCAGCCTCGCACTCTCCTT	0.612000													9	15					0	0	0.006214	0	0
SMAD3	4088	broad.mit.edu	37	15	67482774	67482774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:67482774C>T	ENST00000327367.4	+	9	1488	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	SMAD3_ENST00000537194.2_Missense_Mutation_p.P198L|SMAD3_ENST00000439724.3_Missense_Mutation_p.P349L|SMAD3_ENST00000540846.2_Missense_Mutation_p.P288L	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	393	MH2.		P -> L (in a colorectal cancer sample; somatic mutation).		activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	p.P393L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		ACCAGTACCCCCTGCTGGATT	0.527000													46	4					0	0	0.014410	0	0
MYH8	4626	broad.mit.edu	37	17	10300235	10300235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10300235G>A	ENST00000403437.2	-	31	4341	c.4247C>T	c.(4246-4248)tCc>tTc	p.S1416F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1416					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTCTCAAGGGAAGCACATTT	0.498000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				27	13					0	0	0.006320	0	0
EVPL	2125	broad.mit.edu	37	17	74003218	74003218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:74003218G>A	ENST00000301607.3	-	22	6321	c.6068C>T	c.(6067-6069)tCc>tTc	p.S2023F	EVPL_ENST00000586740.1_Missense_Mutation_p.S2045F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	2023	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGGGAGGCGGAGCGGTAGCA	0.687000													19	17					0	0	0.006122	0	0
ZNF624	57547	broad.mit.edu	37	17	16537259	16537259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:16537259G>A	ENST00000311331.7	-	5	384	c.293C>T	c.(292-294)tCc>tTc	p.S98F	ZNF624_ENST00000579983.1_5'UTR	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	98	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTCTGGTTTGGAAACTGCAAG	0.428000													17	13					0	0	0.012319	0	0
OR6C68	403284	broad.mit.edu	37	12	55886657	55886657	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:55886657T>C	ENST00000379662.1	+	1	511	c.511T>C	c.(511-513)Ttc>Ctc	p.F171L	OR6C68_ENST00000548615.1_Missense_Mutation_p.F166L|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TCATCTAGAATTCTGTGACTC	0.383000													17	20					0	0	0.008871	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926252	67926252	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:67926252G>T	ENST00000304363.4	-	11	1914	c.1561C>A	c.(1561-1563)Cct>Act	p.P521T		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCTCTCACAGGATTCTGTCTG	0.552000													22	37					3.5997e-14	4.81611e-14	0.014323	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43862455	43862455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:43862455C>T	ENST00000389420.3	-	8	1170	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E391K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	391	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding	p.E391Q(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCTTTTTCTTCATTAATAAAG	0.343000													18	53					0	0	0.002780	0	0
ALS2	57679	broad.mit.edu	37	2	202619391	202619391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:202619391G>A	ENST00000264276.6	-	6	1847	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	492					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GAGCCTGGGGGAAACTGAAAA	0.488000													16	13					0	0	0.006122	0	0
TCL1B	9623	broad.mit.edu	37	14	96157078	96157078	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:96157078A>G	ENST00000340722.7	+	2	219	c.168A>G	c.(166-168)gaA>gaG	p.E56E	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	56								p.E56D(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TTCAGTATGAACCCAGCATCA	0.602000													35	61					0	0	0.005524	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925489	4925489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrY:4925489G>A	ENST00000333703.4	+	4	1105	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.E209K|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.E209K	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	209	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCAAAACTACGAACTAATTAA	0.308000													7	1					0	0	0.008291	0	0
ZNF614	80110	broad.mit.edu	37	19	52521670	52521670	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:52521670G>A	ENST00000270649.6	-	3	637	c.93C>T	c.(91-93)aaC>aaT	p.N31N	ZNF614_ENST00000356322.6_Silent_p.N31N	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCCGGTACAGGTTCTTCTGAG	0.498000													21	61					0	0	0.014323	0	0
MME	4311	broad.mit.edu	37	3	154802032	154802032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:154802032C>T	ENST00000460393.1	+	2	196	c.76C>T	c.(76-78)Cca>Tca	p.P26S	MME_ENST00000493237.1_Missense_Mutation_p.P26S|MME_ENST00000360490.2_Missense_Mutation_p.P26S|MME_ENST00000382989.3_Missense_Mutation_p.P26S|MME_ENST00000462745.1_Missense_Mutation_p.P26S|MME_ENST00000492661.1_Missense_Mutation_p.P26S	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	26				P -> R (in Ref. 4; AAA51915).	cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GCGATGGACTCCACTGGAGAT	0.453000													50	45					0	0	0.014410	0	0
CCSER1	401145	broad.mit.edu	37	4	91229611	91229611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:91229611G>A	ENST00000509176.1	+	2	464	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	CCSER1_ENST00000432775.2_Missense_Mutation_p.R59Q|CCSER1_ENST00000333691.8_Missense_Mutation_p.R59Q	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1									p.G59D(1)									ACAGGTAAACGGAGGAGCATA	0.463000													6	22					0	0	0.003080	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735895	41735895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:41735895G>A	ENST00000352645.4	+	10	1149	c.892G>A	c.(892-894)Ggg>Agg	p.G298R	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G298R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	314					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTTCCCCGGCGGGACCCCACT	0.662000													33	52					0	0	0.003755	0	0
NACAP1	83955	broad.mit.edu	37	8	102381365	102381365	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:102381365G>A	ENST00000419462.1	+	0	777					NR_002182.1																						AGAAGGCACGGAAGGCTAGGT	0.463000													31	22					0	0	0.004289	0	0
MEIS1	4211	broad.mit.edu	37	2	66795807	66795807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:66795807G>A	ENST00000488550.1	+	11	1332	c.1033G>A	c.(1033-1035)Gga>Aga	p.G345R	MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000272369.9_Missense_Mutation_p.G345R|MEIS1_ENST00000495021.2_Missense_Mutation_p.G280R|MEIS1_ENST00000398506.2_Missense_Mutation_p.G343R|MEIS1_ENST00000444274.2_3'UTR|MEIS1_ENST00000407092.2_Missense_Mutation_p.G345R			O00470	MEIS1_HUMAN	Meis homeobox 1	345	Required for transcriptional activation (By similarity).						sequence-specific DNA binding transcription factor activity	p.G345*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AGTAAGTCAAGGAACACCTTA	0.408000													65	71					0	0	0.014410	0	0
TEKT1	83659	broad.mit.edu	37	17	6718610	6718610	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:6718610G>A	ENST00000338694.2	-	5	630	c.501C>T	c.(499-501)gcC>gcT	p.A167A	TEKT1_ENST00000535086.1_Silent_p.A21A	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	167					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GATTGTACTTGGCAGAGCGGT	0.488000													21	61					0	0	0.014323	0	0
CDH23	64072	broad.mit.edu	37	10	73544156	73544156	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:73544156G>A	ENST00000224721.6	+	41	5501	c.5496G>A	c.(5494-5496)ggG>ggA	p.G1832G		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1827	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTGACCGGGGGATGCCCCCAC	0.612000													26	32					0	0	0.007291	0	0
OR4K2	390431	broad.mit.edu	37	14	20344870	20344870	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:20344870C>T	ENST00000298642.2	+	1	480	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTGGCTTCCTGGATTATGG	0.468000													59	75					0	0	0.014410	0	0
MCRS1	10445	broad.mit.edu	37	12	49959431	49959431	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:49959431A>G	ENST00000550165.1	-	5	435	c.169T>C	c.(169-171)Ttc>Ctc	p.F57L	MCRS1_ENST00000357123.4_Missense_Mutation_p.F70L|MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000343810.4_Missense_Mutation_p.F57L			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	57	Ser-rich.				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TCATCATCGAACTTCTTCCTC	0.582000													41	45					0	0	0.014410	0	0
ATXN2L	11273	broad.mit.edu	37	16	28841344	28841344	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:28841344G>A	ENST00000336783.4	+	8	1166	c.999G>A	c.(997-999)caG>caA	p.Q333Q	ATXN2L_ENST00000340394.8_Silent_p.Q333Q|ATXN2L_ENST00000564304.1_Silent_p.Q333Q|ATXN2L_ENST00000395547.2_Silent_p.Q333Q|ATXN2L_ENST00000382686.4_Silent_p.Q333Q|ATXN2L_ENST00000325215.6_Silent_p.Q333Q|ATXN2L_ENST00000570200.1_Silent_p.Q333Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	333						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCAGCGGCAGGGCTCAGGGC	0.612000													7	13					0	0	0.003080	0	0
PER3	8863	broad.mit.edu	37	1	7863776	7863776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:7863776C>T	ENST00000377532.3	+	9	1228	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L	PER3_ENST00000361923.2_Missense_Mutation_p.P334L|PER3_ENST00000377541.1_Missense_Mutation_p.P334L			P56645	PER3_HUMAN	period circadian clock 3	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCATCCTCCCTTTGAACAT	0.368000													18	12					0	0	0.007413	0	0
OR4C46	119749	broad.mit.edu	37	11	51515683	51515683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:51515683G>A	ENST00000328188.1	+	1	402	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGACTATCATGAACCAGTGTG	0.483000													20	69					0	0	0.012319	0	0
MDN1	23195	broad.mit.edu	37	6	90394612	90394612	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:90394612G>A	ENST00000369393.3	-	71	11927	c.11812C>T	c.(11812-11814)Cta>Tta	p.L3938L	MDN1_ENST00000428876.1_Silent_p.L3938L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3938					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTTTTTCTAGGGGGGAACGA	0.393000													16	24					0	0	0.006122	0	0
KDR	3791	broad.mit.edu	37	4	55955950	55955950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:55955950C>T	ENST00000263923.4	-	24	3507	c.3212G>A	c.(3211-3213)tGg>tAg	p.W1071*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1071	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGGGGCCATCCATTTCAAAGG	0.423000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			23	48					0	0	0.014323	0	0
DNAH7	56171	broad.mit.edu	37	2	196718227	196718227	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:196718227T>C	ENST00000312428.6	-	46	8721	c.8621A>G	c.(8620-8622)gAa>gGa	p.E2874G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2874					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						TTCAGCTCGTTCTAGTTTTTT	0.413000													9	5					0	0	0.006214	0	0
APLP1	333	broad.mit.edu	37	19	36362827	36362827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:36362827G>A	ENST00000221891.4	+	6	931	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	APLP1_ENST00000586861.1_Missense_Mutation_p.E241K|APLP1_ENST00000537454.2_Missense_Mutation_p.E208K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	247	Poly-Glu.				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAAGAGGAGGAATCCTTCCC	0.612000													43	45					0	0	0.013114	0	0
PRMT2	3275	broad.mit.edu	37	21	48081834	48081834	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:48081834C>T	ENST00000397637.1	+	9	2037	c.1083C>T	c.(1081-1083)acC>acT	p.T361T	PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000397638.2_Silent_p.T361T|PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000355680.3_Silent_p.T361T|PRMT2_ENST00000440086.1_Silent_p.T259T			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	361					developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TGCTCAGCACCGGGCCCTTCC	0.736000													11	4					0	0	0.001855	0	0
MYH1	4619	broad.mit.edu	37	17	10409372	10409372	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:10409372G>A	ENST00000226207.5	-	18	2107	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	671	Actin-binding (By similarity).|Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			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						GCACAAAGTGGGGGTGAGTGC	0.413000													33	65					0	0	0.014410	0	0
KCNJ1	3758	broad.mit.edu	37	11	128710121	128710121	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:128710121C>T	ENST00000392665.2	-	2	162	c.18G>A	c.(16-18)cgG>cgA	p.R6R	KCNJ1_ENST00000324036.3_Silent_p.R6R|KCNJ1_ENST00000392664.2_Silent_p.R25R|KCNJ1_ENST00000392666.1_Silent_p.R6R|KCNJ1_ENST00000440599.2_Silent_p.R6R	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	25			R -> W (in dbSNP:rs34191956).		excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CGACCCATTTCCGAAGATGTT	0.408000													23	15					0	0	0.003330	0	0
NPAS3	64067	broad.mit.edu	37	14	34247774	34247774	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:34247774G>A	ENST00000346562.2	+	8	1127	c.1053G>A	c.(1051-1053)ttG>ttA	p.L351L	NPAS3_ENST00000548645.1_Silent_p.L353L|NPAS3_ENST00000356141.4_Silent_p.L383L|NPAS3_ENST00000551492.1_Silent_p.L388L|NPAS3_ENST00000357798.5_Silent_p.L370L	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	383	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ACAGTCACTTGGACTGTAAGT	0.483000													20	22					0	0	0.012319	0	0
KCNB2	9312	broad.mit.edu	37	8	73848342	73848342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:73848342G>A	ENST00000523207.1	+	3	1340	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	251					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.R251L(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)			TACCTTTTGCGATTCTTATCC	0.448000													26	11					0	0	0.004656	0	0
EEF2K	29904	broad.mit.edu	37	16	22269865	22269865	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:22269865C>T	ENST00000263026.5	+	10	1554	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	360					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GTGGGAGCCCCCAAGTAAGGA	0.547000													17	36					0	0	0.002780	0	0
OR4S2	219431	broad.mit.edu	37	11	55418813	55418813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55418813G>A	ENST00000312422.2	+	1	434	c.434G>A	c.(433-435)gGg>gAg	p.G145E		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ATGTTATTAGGGACGTGGGTA	0.423000													16	7					0	0	0.006122	0	0
PTPN13	5783	broad.mit.edu	37	4	87622698	87622698	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:87622698C>T	ENST00000436978.1	+	7	1419	c.939C>T	c.(937-939)ttC>ttT	p.F313F	PTPN13_ENST00000316707.6_Silent_p.F313F|PTPN13_ENST00000427191.2_Silent_p.F313F|PTPN13_ENST00000511467.1_Silent_p.F313F|PTPN13_ENST00000411767.2_Silent_p.F313F	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	313						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAGAGACTTCTCTTCAGGAG	0.473000													14	25					0	0	0.004990	0	0
LCA5	167691	broad.mit.edu	37	6	80197313	80197313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:80197313G>A	ENST00000392959.1	-	9	2113	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	LCA5_ENST00000369846.4_Missense_Mutation_p.S501F	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	501					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCTCTCTGGGGAGTGTAGTTT	0.383000													33	55					0	0	0.005524	0	0
CDK13	8621	broad.mit.edu	37	7	40085496	40085496	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:40085496C>T	ENST00000181839.4	+	6	3020	c.2415C>T	c.(2413-2415)ggC>ggT	p.G805G	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Silent_p.G805G	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	805	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TGGAATCAGGCTTGGTTCATT	0.328000													88	3					0	0	0.014410	0	0
TNC	3371	broad.mit.edu	37	9	117786303	117786303	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:117786303G>A	ENST00000350763.4	-	27	6855	c.6444C>T	c.(6442-6444)aaC>aaT	p.N2148N	TNC_ENST00000341037.4_Silent_p.N1966N|TNC_ENST00000423613.2_Silent_p.N1875N|TNC_ENST00000542877.1_Silent_p.N1785N|TNC_ENST00000340094.3_Silent_p.N1784N|TNC_ENST00000537320.1_Silent_p.N1511N|TNC_ENST00000345230.3_Silent_p.N1511N|TNC_ENST00000346706.3_Silent_p.N1602N|TNC_ENST00000535648.1_Silent_p.N1693N	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2148	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CACGGTGACAGTTCCTGTACC	0.542000													33	24					0	0	0.012213	0	0
BDKRB2	624	broad.mit.edu	37	14	96707697	96707697	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:96707697G>T	ENST00000542454.2	+	3	4039	c.951G>T	c.(949-951)tgG>tgT	p.W317C	BDKRB2_ENST00000554311.1_Missense_Mutation_p.W344C|BDKRB2_ENST00000306005.3_Missense_Mutation_p.W344C|BDKRB2_ENST00000539359.1_Missense_Mutation_p.W317C|RP11-404P21.8_ENST00000553811.1_Intron			P30411	BKRB2_HUMAN	bradykinin receptor B2	344					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		AGAAGTCTTGGGAGGTGTACC	0.562000													13	20					1.52009e-12	2.03035e-12	0.003163	1	0
MYEOV	26579	broad.mit.edu	37	11	69063580	69063580	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:69063580G>A	ENST00000535407.1	+	2	1132	c.489G>A	c.(487-489)ctG>ctA	p.L163L	MYEOV_ENST00000441339.2_Silent_p.L221L|MYEOV_ENST00000308946.3_Silent_p.L221L			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	221										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GCATGACCCTGGCAGAATCGA	0.632000													27	41					0	0	0.009535	0	0
KCNT1	57582	broad.mit.edu	37	9	138676386	138676386	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:138676386C>T	ENST00000298480.5	+	26	3023	c.2949C>T	c.(2947-2949)ttC>ttT	p.F983F	KCNT1_ENST00000488444.2_Silent_p.F964F|KCNT1_ENST00000491806.2_Silent_p.F950F|KCNT1_ENST00000371757.2_Silent_p.F983F|KCNT1_ENST00000487664.1_Silent_p.F938F|KCNT1_ENST00000490355.2_Silent_p.F962F|KCNT1_ENST00000263604.3_Silent_p.F964F|KCNT1_ENST00000486577.2_Silent_p.F942F			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	983						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCCAGTCCTTCGTGAAGGACT	0.687000													5	2					0	0	0.000602	0	0
SZT2	23334	broad.mit.edu	37	1	43885473	43885473	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:43885473C>T	ENST00000562955.1	+	8	948	c.948C>T	c.(946-948)atC>atT	p.I316I		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	316						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGAAGTTCATCGCAATGGCAA	0.502000													25	2					0	0	0.002780	0	0
DSPP	1834	broad.mit.edu	37	4	88533290	88533290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:88533290G>A	ENST00000399271.1	+	3	205	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.E29K	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	29					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAGACATGTCGAAAAATCCAT	0.368000													10	4					0	0	0.008291	0	0
TMEM2	23670	broad.mit.edu	37	9	74344822	74344822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:74344822G>A	ENST00000377044.4	-	10	2527	c.1988C>T	c.(1987-1989)tCa>tTa	p.S663L	TMEM2_ENST00000377066.5_Missense_Mutation_p.S600L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	663						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCAGAAAGTTGAAACAGCCCT	0.383000													27	25					0	0	0.010818	0	0
DHX57	90957	broad.mit.edu	37	2	39088661	39088661	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:39088661T>C	ENST00000295373.6	-	5	1017	c.891A>G	c.(889-891)gtA>gtG	p.V297V	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	297							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AATTCTCTTGTACATTTTTGG	0.353000													30	33					0	0	0.009535	0	0
GPR82	27197	broad.mit.edu	37	X	41586559	41586559	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:41586559C>T	ENST00000302548.4	+	3	520	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	CASK_ENST00000378158.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378154.1_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	94						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						GGTCAATTTTCTGGGAACTCT	0.398000													32	2					0	0	0.003755	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548635	20548635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20548635C>T	ENST00000329697.6	-	14	1847	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	ACSM2B_ENST00000565232.1_Missense_Mutation_p.R560Q|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R481Q|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R560Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	560					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AAGTTTGGTTCGTTGAATTTT	0.473000													88	114					0	0	0.014410	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81065958	81065958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:81065958C>T	ENST00000334512.5	+	22	3097	c.2525C>T	c.(2524-2526)tCc>tTc	p.S842F		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	842					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGCATCCCCTCCAAGCGGTTC	0.612000													16	15					0	0	0.003163	0	0
TNPO2	30000	broad.mit.edu	37	19	12822415	12822415	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:12822415G>A	ENST00000425528.1	-	11	1260	c.903C>T	c.(901-903)atC>atT	p.I301I	TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000592287.1_Silent_p.I301I|TNPO2_ENST00000441499.1_Silent_p.I301I|TNPO2_ENST00000588216.1_Silent_p.I301I|TNPO2_ENST00000450764.2_Silent_p.I301I|TNPO2_ENST00000356861.5_Silent_p.I301I			O14787	TNPO2_HUMAN	transportin 2	301					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATTCACCAAGATGGGGATCA	0.597000													8	8					0	0	0.006214	0	0
FASN	2194	broad.mit.edu	37	17	80046692	80046692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:80046692G>A	ENST00000306749.2	-	15	2583	c.2365C>T	c.(2365-2367)Cac>Tac	p.H789Y		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	789	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TTGTCCCTGTGATCCTTCTTC	0.662000													23	4					0	0	0.006320	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292704	4292704	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:4292704G>A	ENST00000301272.2	-	5	786	c.741C>T	c.(739-741)tgC>tgT	p.C247C	TMIGD2_ENST00000595645.1_Silent_p.C243C|TMIGD2_ENST00000600349.1_Silent_p.C75C|TMIGD2_ENST00000600114.1_Silent_p.C127C	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	247	Pro-rich.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		tggggctggggcagggtctcg	0.677000													22	32					0	0	0.014323	0	0
CNGB1	1258	broad.mit.edu	37	16	57931767	57931767	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:57931767A>G	ENST00000564448.1	-	30	3070	c.3010T>C	c.(3010-3012)Ttg>Ctg	p.L1004L	CNGB1_ENST00000251102.8_Silent_p.L1010L			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1010					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGCCGCCCAAGACCTGCACT	0.547000													68	7					0	0	0.014410	0	0
CIC	23152	broad.mit.edu	37	19	42798195	42798195	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:42798195C>T	ENST00000572681.2	+	18	6935	c.6867C>T	c.(6865-6867)ccC>ccT	p.P2289P	CIC_ENST00000160740.3_Silent_p.P1381P|CIC_ENST00000575354.2_Silent_p.P1383P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACCTCACCCCGGGCCATCC	0.627000			"""Mis, F, S"""		oligodendroglioma								32	35					0	0	0.003271	0	0
PRPF4	9128	broad.mit.edu	37	9	116045453	116045453	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:116045453G>A	ENST00000374199.4	+	5	923	c.522G>A	c.(520-522)aaG>aaA	p.K174K	PRPF4_ENST00000374198.4_Silent_p.K175K|PRPF4_ENST00000488937.1_3'UTR			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	175						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						ATAGCTTGAAGGTGGCAAGAC	0.403000													58	46					0	0	0.014410	0	0
CHRNA4	1137	broad.mit.edu	37	20	61978120	61978120	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:61978120G>A	ENST00000370263.4	-	6	2075	c.1854C>T	c.(1852-1854)ttC>ttT	p.F618F	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	618					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AGGGCGGCAGGAAGAGGCCCA	0.662000													13	16					0	0	0.013537	0	0
VPS37B	79720	broad.mit.edu	37	12	123351923	123351923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:123351923G>A	ENST00000267202.2	-	4	979	c.598C>T	c.(598-600)Cct>Tct	p.P200S		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	200	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GCAACGGCAGGAGGCCCACTG	0.726000													10	16					0	0	0.006214	0	0
OR1B1	347169	broad.mit.edu	37	9	125391722	125391722	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:125391722G>A	ENST00000304833.3	-	1	130	c.93C>T	c.(91-93)ttC>ttT	p.F31F	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGAACAGGAAGAAGAGGA	0.498000													4	18					0	0	0.009096	0	0
RSRC1	51319	broad.mit.edu	37	3	157920866	157920866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:157920866G>A	ENST00000295930.3	+	4	488	c.326G>A	c.(325-327)aGg>aAg	p.R109K	RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000480820.1_Missense_Mutation_p.R109K|RSRC1_ENST00000475278.2_Missense_Mutation_p.R109K	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	109	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TGTAGGTCCAGGTCAAGACCT	0.393000													7	18					0	0	0.006214	0	0
OR8U1	219417	broad.mit.edu	37	11	56143654	56143654	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:56143654C>T	ENST00000302270.1	+	1	555	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TGCCTCTCCTCAGGCTAACTT	0.468000													5	44					0	0	0.003080	0	0
ICA1	3382	broad.mit.edu	37	7	8272378	8272378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:8272378G>A	ENST00000402384.3	-	3	291	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	ICA1_ENST00000407906.1_Missense_Mutation_p.P9S|ICA1_ENST00000401396.1_Intron|ICA1_ENST00000406470.2_Missense_Mutation_p.P9S|ICA1_ENST00000422063.2_Missense_Mutation_p.P9S|ICA1_ENST00000265577.7_Missense_Mutation_p.P8S|ICA1_ENST00000396675.3_Missense_Mutation_p.P9S			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	9					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AAGTCCCAGGGATAACTGCTA	0.328000													36	3					0	0	0.009718	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430649	37430649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:37430649G>A	ENST00000374660.1	+	7	755	c.656G>A	c.(655-657)gGa>gAa	p.G219E	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G219E|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G219E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	275						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						TTGGCAGAAGGAACATCTGCA	0.463000													11	10					0	0	0.010729	0	0
RELN	5649	broad.mit.edu	37	7	103214737	103214737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:103214737C>T	ENST00000428762.1	-	30	4472	c.4313G>A	c.(4312-4314)gGa>gAa	p.G1438E	RELN_ENST00000424685.2_Missense_Mutation_p.G1438E|RELN_ENST00000343529.5_Missense_Mutation_p.G1438E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1438	EGF-like 3.				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)		CACACAGGTTCCTTGTGCAGC	0.448000													15	30					0	0	0.006122	0	0
F8	2157	broad.mit.edu	37	X	154132587	154132587	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:154132587C>T	ENST00000360256.4	-	17	5999	c.5799G>A	c.(5797-5799)gaG>gaA	p.E1933E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1933	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGCGATAATTCTCTTTAAAAG	0.398000													81	6					0	0	0.014410	0	0
SENP2	59343	broad.mit.edu	37	3	185330417	185330417	+	Silent	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:185330417A>C	ENST00000296257.5	+	9	1080	c.840A>C	c.(838-840)ggA>ggC	p.G280G	SENP2_ENST00000427465.2_Silent_p.G104G|SENP2_ENST00000545472.1_Silent_p.G270G	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	280					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AAACAAGGGGACCTCTATGTT	0.303000													72	213					0	0	0.014410	0	0
DNAH2	146754	broad.mit.edu	37	17	7667200	7667200	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7667200C>T	ENST00000572933.1	+	19	4490	c.3030C>T	c.(3028-3030)atC>atT	p.I1010I	DNAH2_ENST00000389173.2_Silent_p.I1010I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1010	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCACCAACATCCAGTTTGTGC	0.517000													16	43					0	0	0.007413	0	0
ABCC4	10257	broad.mit.edu	37	13	95861831	95861831	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:95861831G>A	ENST00000376887.4	-	6	756	c.642C>T	c.(640-642)ttC>ttT	p.F214F	ABCC4_ENST00000431522.1_Silent_p.F214F|ABCC4_ENST00000412704.1_Silent_p.F214F|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.F139F	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	214	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTGCCCACAGGAAGTGTAAGA	0.473000													6	14					0	0	0.001168	0	0
CRYAB	1410	broad.mit.edu	37	11	111779560	111779560	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:111779560G>A	ENST00000533475.1	-	4	905	c.456C>T	c.(454-456)gtC>gtT	p.V152V	CRYAB_ENST00000227251.3_Silent_p.V152V|CRYAB_ENST00000525823.1_Silent_p.V85V|CRYAB_ENST00000527950.1_Silent_p.V152V|CRYAB_ENST00000533280.1_Silent_p.V85V|CRYAB_ENST00000531198.1_Silent_p.V152V|CRYAB_ENST00000526180.1_Silent_p.V152V	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	152					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CAGGGCCAGAGACCTGTTTCC	0.507000													36	33					0	0	0.005524	0	0
SYT15	83849	broad.mit.edu	37	10	46967675	46967675	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:46967675G>A	ENST00000374323.3	-	3	1148	c.561C>T	c.(559-561)ttC>ttT	p.F187F	SYT15_ENST00000374321.4_Silent_p.F134F|SYT15_ENST00000503753.1_Silent_p.F134F|SYT15_ENST00000374325.3_Silent_p.F134F			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	134	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGTCCTCCGGGAACTTGTACA	0.627000													22	106					0	0	0.003330	0	0
ZNF479	90827	broad.mit.edu	37	7	57188147	57188147	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:57188147G>A	ENST00000331162.4	-	5	1245	c.975C>T	c.(973-975)tgC>tgT	p.C325C		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C325W(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCTCACACCTGCAGGGTTTCT	0.453000													6	0					0	0	0.001855	0	0
NRP2	8828	broad.mit.edu	37	2	206631528	206631528	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:206631528G>T	ENST00000360409.3	+	15	3217	c.2426G>T	c.(2425-2427)gGt>gTt	p.G809V	NRP2_ENST00000540178.1_Intron|NRP2_ENST00000485684.1_Splice_Site|NRP2_ENST00000412873.2_Splice_Site|NRP2_ENST00000272849.3_Missense_Mutation_p.G809V|NRP2_ENST00000357118.4_Splice_Site|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000357785.5_Splice_Site	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	809					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCTTTTGCAGGTGAGAATTTT	0.343000											OREG0015156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	22					7.93312e-07	1.05151e-06	0.002450	1	0
MAP1B	4131	broad.mit.edu	37	5	71494521	71494521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:71494521C>T	ENST00000296755.7	+	5	5637	c.5339C>T	c.(5338-5340)cCa>cTa	p.P1780L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1780						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGCTCTCTCCAAAATCTGAT	0.438000													17	25					0	0	0.004990	0	0
TRAV4	28689	broad.mit.edu	37	14	22205018	22205018	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:22205018G>A	ENST00000390426.2	+	0	149																											CATCTCCATGGACTCATATGA	0.458000													36	53					0	0	0.007835	0	0
CADM3	57863	broad.mit.edu	37	1	159163804	159163804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:159163804C>T	ENST00000368125.4	+	5	822	c.665C>T	c.(664-666)tCc>tTc	p.S222F	CADM3_ENST00000368124.4_Missense_Mutation_p.S256F	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	222	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GCTGACAGATCCACCTCTCAA	0.507000													32	13					0	0	0.003271	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44266225	44266225	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:44266225A>T	ENST00000315087.7	-	5	1141	c.481T>A	c.(481-483)Ttt>Att	p.F161I	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.F130I|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.F197I	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	161					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CACTTCTTAAACTGGGACCGG	0.587000													17	14					0	0	0.007413	0	0
UBE2O	63893	broad.mit.edu	37	17	74391899	74391899	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:74391899G>A	ENST00000319380.7	-	15	2917	c.2853C>T	c.(2851-2853)gcC>gcT	p.A951A		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	951							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AGAACTTCTTGGCTTCTGGAG	0.498000													41	66					0	0	0.014410	0	0
MYPN	84665	broad.mit.edu	37	10	69934132	69934132	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:69934132A>T	ENST00000358913.5	+	11	2771	c.2283A>T	c.(2281-2283)gaA>gaT	p.E761D	MYPN_ENST00000540630.1_Missense_Mutation_p.E761D|MYPN_ENST00000354393.2_Missense_Mutation_p.E486D	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	761						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGAGCAAAGAAAGCCTCTTAG	0.542000													33	36					0	0	0.003271	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62631393	62631393	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:62631393G>A	ENST00000337910.5	-	11	2275	c.1938C>T	c.(1936-1938)ttC>ttT	p.F646F	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Silent_p.F646F	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	646					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GGTGCCGCTCGAAGTATTCCT	0.483000													8	11					0	0	0.004482	0	0
PTGS1	5742	broad.mit.edu	37	9	125154475	125154475	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:125154475G>A	ENST00000362012.2	+	11	1457	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	PTGS1_ENST00000373698.5_Silent_p.K375K|PTGS1_ENST00000223423.4_Silent_p.K447K|PTGS1_ENST00000540753.1_Silent_p.K422K	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	484					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TAGGAGAGAAGGAGATGGCAG	0.488000													10	13					0	0	0.006214	0	0
FOXO3	2309	broad.mit.edu	37	6	108985383	108985383	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:108985383G>T	ENST00000406360.1	+	2	1690	c.1347G>T	c.(1345-1347)caG>caT	p.Q449H	FOXO3_ENST00000343882.6_Missense_Mutation_p.Q449H|FOXO3_ENST00000540898.1_Missense_Mutation_p.Q229H	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	449					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CTCCCATGCAGACCATCCAAG	0.557000													27	34					9.8876e-21	1.32778e-20	0.004878	1	0
QRICH2	84074	broad.mit.edu	37	17	74288341	74288341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:74288341G>A	ENST00000262765.5	-	4	2148	c.1969C>T	c.(1969-1971)Caa>Taa	p.Q657*		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	657	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						actccaggttggaccaaacca	0.542000													21	20					0	0	0.002780	0	0
MAP4	4134	broad.mit.edu	37	3	47896767	47896767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:47896767C>T	ENST00000426837.2	-	19	6754	c.6667G>A	c.(6667-6669)Ggc>Agc	p.G2223S	MAP4_ENST00000441748.2_Missense_Mutation_p.G192S|MAP4_ENST00000420772.2_Missense_Mutation_p.G771S|MAP4_ENST00000395734.3_Missense_Mutation_p.G1078S|MAP4_ENST00000383737.4_Missense_Mutation_p.G737S|MAP4_ENST00000360240.6_Missense_Mutation_p.G1078S|MAP4_ENST00000264724.11_Missense_Mutation_p.G813S			P27816	MAP4_HUMAN	microtubule-associated protein 4	1078					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GGTAGGTGGCCCACATTATCG	0.557000													39	41					0	0	0.010771	0	0
MDGA1	266727	broad.mit.edu	37	6	37623614	37623614	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:37623614G>A	ENST00000434837.2	-	4	1619	c.441C>T	c.(439-441)ttC>ttT	p.F147F	MDGA1_ENST00000505425.1_Silent_p.F147F|MDGA1_ENST00000297153.7_Silent_p.F147F	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	147	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TCTCCTGGTAGAAGTTGCCTC	0.612000													7	17					0	0	0.004482	0	0
NLRP2	55655	broad.mit.edu	37	19	55494434	55494434	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55494434G>A	ENST00000543010.1	+	6	1511	c.1368G>A	c.(1366-1368)caG>caA	p.Q456Q	NLRP2_ENST00000538819.1_Silent_p.Q432Q|NLRP2_ENST00000427260.2_Silent_p.Q433Q|NLRP2_ENST00000448584.2_Silent_p.Q456Q|NLRP2_ENST00000537859.1_Silent_p.Q434Q|NLRP2_ENST00000339757.7_Silent_p.Q434Q|NLRP2_ENST00000391721.4_Silent_p.Q432Q|NLRP2_ENST00000263437.6_Silent_p.Q453Q	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	456	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGCCGCGCAGGGCCTGTGGG	0.697000													23	22					0	0	0.005443	0	0
PLCH1	23007	broad.mit.edu	37	3	155199056	155199056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:155199056C>T	ENST00000460012.1	-	23	5026	c.4669G>A	c.(4669-4671)Gag>Aag	p.E1557K	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.E1557K|PLCH1_ENST00000340059.7_Missense_Mutation_p.E1595K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E1557K|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1595					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCTGTTTCTCCTTGGCACGA	0.522000													44	38					0	0	0.014410	0	0
ABCA1	19	broad.mit.edu	37	9	107568554	107568554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:107568554G>A	ENST00000374736.3	-	31	4826	c.4432C>T	c.(4432-4434)Ccc>Tcc	p.P1478S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1478					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCCCCTGGGGGACACACAGGC	0.572000													30	21					0	0	0.004878	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521666	64521666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:64521666C>T	ENST00000355086.3	+	21	3090	c.2566C>T	c.(2566-2568)Cct>Tct	p.P856S	SRGAP1_ENST00000543397.1_Missense_Mutation_p.P793S|SRGAP1_ENST00000357825.3_Missense_Mutation_p.P833S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	856	Poly-Pro.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGAGCCACCCCCTCCAGTAAG	0.557000													9	39					0	0	0.006214	0	0
PLA2G2C	391013	broad.mit.edu	37	1	20501649	20501649	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:20501649C>T	ENST00000247992.5	-	1	38	c.39G>A	c.(37-39)tcG>tcA	p.S13S	PLA2G2C_ENST00000495760.2_5'UTR|PLA2G2C_ENST00000429261.2_Intron	NM_001105572.1	NP_001099042.1			phospholipase A2, group IIC											NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGCCACCACCGATGAGAAAA	0.502000													43	26					0	0	0.014410	0	0
FRMD1	79981	broad.mit.edu	37	6	168465605	168465605	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:168465605C>T	ENST00000283309.6	-	5	658	c.594G>A	c.(592-594)cgG>cgA	p.R198R	FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000440994.2_Silent_p.R130R|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	198	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGCCGACTCCCGGTGCTCGC	0.652000													3	2					0	0	0.004672	0	0
EPHA4	2043	broad.mit.edu	37	2	222428586	222428586	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:222428586G>A	ENST00000281821.2	-	3	729	c.688C>T	c.(688-690)Cga>Tga	p.R230*	EPHA4_ENST00000392071.4_Nonsense_Mutation_p.R179*|EPHA4_ENST00000409854.1_Nonsense_Mutation_p.R230*|EPHA4_ENST00000409938.1_Nonsense_Mutation_p.R230*	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	230	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGGAGCCTCGAACTTCCACC	0.502000													36	21					0	0	0.003271	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733939	28733939	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:28733939G>A	ENST00000550043.1	+	0	344																											GTAGCTCCAAGAGTTCTCACT	0.488000													39	30					0	0	0.005524	0	0
CAMTA1	23261	broad.mit.edu	37	1	7796526	7796526	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:7796526C>T	ENST00000303635.7	+	13	3396	c.3189C>T	c.(3187-3189)ttC>ttT	p.F1063F	CAMTA1_ENST00000439411.2_Silent_p.F1063F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1063					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAAAGACTTTCCGCGGAATGA	0.592000			T	WWTR1	epitheliod hemangioendothelioma								41	27					0	0	0.010771	0	0
CNGA2	1260	broad.mit.edu	37	X	150908125	150908125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:150908125C>T	ENST00000329903.4	+	3	328	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	99					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CGAGCGTTTTCGTGGGCCTGA	0.552000													31	3					0	0	0.013726	0	0
NASP	4678	broad.mit.edu	37	1	46073451	46073451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:46073451G>A	ENST00000350030.3	+	6	955	c.868G>A	c.(868-870)Ggc>Agc	p.G290S	NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.G226S|NASP_ENST00000402363.3_Missense_Mutation_p.G292S|NASP_ENST00000351223.3_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	290	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGAAAAGCAGGGCACTGCAGT	0.507000													10	48					0	0	0.008291	0	0
ERBB4	2066	broad.mit.edu	37	2	212293132	212293132	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:212293132C>T	ENST00000342788.4	-	22	3030		c.e22+1		ERBB4_ENST00000436443.1_Splice_Site|ERBB4_ENST00000402597.1_Splice_Site	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						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)		GATTTATTTACCATAGCTCCA	0.308000										TSP Lung(8;0.080)			11	42					0	0	0.013537	0	0
WFDC9	259240	broad.mit.edu	37	20	44237382	44237382	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:44237382C>T	ENST00000326000.1	-	4	376	c.159G>A	c.(157-159)agG>agA	p.R53R		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	53						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				TTTTAGTACACCTTTTCTCAC	0.438000													36	39					0	0	0.004878	0	0
CCDC88C	440193	broad.mit.edu	37	14	91770158	91770158	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:91770158C>T	ENST00000389857.6	-	20	3608	c.3522G>A	c.(3520-3522)ctG>ctA	p.L1174L		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1174					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCAGCGTGCCCAGGTGCTCGT	0.632000													19	24					0	0	0.006122	0	0
ALG9	79796	broad.mit.edu	37	11	111657226	111657226	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:111657226C>T	ENST00000398006.2	-	15	2126	c.1218G>A	c.(1216-1218)cgG>cgA	p.R406R	ALG9_ENST00000531154.1_Silent_p.R413R|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	577					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CATAGAATGCCCGCAGCAGCT	0.368000													29	38					0	0	0.006320	0	0
C2orf16	84226	broad.mit.edu	37	2	27799788	27799788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:27799788G>A	ENST00000408964.2	+	1	400	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	117										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCAAATCATGGAATCCTCTGA	0.403000													9	8					0	0	0.010729	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926531	157926531	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:157926531G>C	ENST00000389413.3	-	9	1497	c.1394C>G	c.(1393-1395)cCc>cGc	p.P465R	PTPRN2_ENST00000389416.4_Missense_Mutation_p.P448R|PTPRN2_ENST00000409483.1_Missense_Mutation_p.P427R|PTPRN2_ENST00000389418.4_Missense_Mutation_p.P465R|PTPRN2_ENST00000404321.2_Missense_Mutation_p.P488R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	465						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGCGGCCCCGGGCTCCGAATG	0.632000													30	34					0	0	0.010818	0	0
RFPL3	10738	broad.mit.edu	37	22	32756380	32756380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:32756380C>T	ENST00000249007.4	+	2	720	c.515C>T	c.(514-516)tCc>tTc	p.S172F	RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.S143F|RFPL3_ENST00000397468.1_Missense_Mutation_p.S143F	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	172	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ATCCTGGGCTCCCCTCGCTTT	0.567000													29	44					0	0	0.013726	0	0
TTC8	123016	broad.mit.edu	37	14	89337973	89337973	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:89337973A>T	ENST00000338104.6	+	12	1230	c.1178A>T	c.(1177-1179)gAt>gTt	p.D393V	TTC8_ENST00000536576.1_Missense_Mutation_p.D138V|TTC8_ENST00000380656.2_Missense_Mutation_p.D377V|TTC8_ENST00000345383.5_Missense_Mutation_p.D367V|TTC8_ENST00000358622.5_Missense_Mutation_p.D179V|TTC8_ENST00000346301.4_Missense_Mutation_p.D337V|TTC8_ENST00000354441.6_Missense_Mutation_p.D112V			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	403					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CAGCAGTATGATATGACTCTG	0.458000													39	23					0	0	0.004878	0	0
ABCE1	6059	broad.mit.edu	37	4	146042539	146042539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:146042539C>T	ENST00000296577.4	+	13	1774	c.1259C>T	c.(1258-1260)tCa>tTa	p.S420L	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	420	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					AGTCCCAAATCAACTGTGAGT	0.279000													65	68					0	0	0.014410	0	0
THOP1	7064	broad.mit.edu	37	19	2808345	2808345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:2808345C>T	ENST00000307741.6	+	9	1561	c.1358C>T	c.(1357-1359)aCc>aTc	p.T453I	THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000586677.1_Missense_Mutation_p.T332I	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	453					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		GCCAACTTCACCAAGCCCACA	0.662000													7	6					0	0	0.003080	0	0
LRFN1	57622	broad.mit.edu	37	19	39798444	39798444	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:39798444C>T	ENST00000248668.4	-	2	2144	c.2145G>A	c.(2143-2145)caG>caA	p.Q715Q		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	715						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AACTGTGGCTCTGGAATAGTG	0.731000													6	11					0	0	0.001168	0	0
KCNK10	54207	broad.mit.edu	37	14	88729587	88729587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:88729587G>A	ENST00000340700.5	-	2	797	c.346C>T	c.(346-348)Cat>Tat	p.H116Y	KCNK10_ENST00000319231.5_Missense_Mutation_p.H121Y|KCNK10_ENST00000312350.5_Missense_Mutation_p.H121Y	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	116					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						ACACAGACATGATCCCGCAGG	0.577000													17	21					0	0	0.007413	0	0
OR5J2	282775	broad.mit.edu	37	11	55944627	55944627	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:55944627C>T	ENST00000312298.1	+	1	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCCACTTCTTCTGTGACATTC	0.448000													9	15					0	0	0.006214	0	0
IL36RN	26525	broad.mit.edu	37	2	113820070	113820070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:113820070C>T	ENST00000393200.2	+	5	445	c.284C>T	c.(283-285)tCc>tTc	p.S95F	IL36RN_ENST00000346807.3_Missense_Mutation_p.S95F	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	95						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GCCAAGGAATCCAAGAGCTTC	0.632000													18	13					0	0	0.008871	0	0
VWF	7450	broad.mit.edu	37	12	6140680	6140680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:6140680G>A	ENST00000261405.5	-	21	3004	c.2750C>T	c.(2749-2751)cCc>cTc	p.P917L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	917	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTTCACTGAGGGGTGGCTGCA	0.547000													16	54					0	0	0.014323	0	0
ACAP2	23527	broad.mit.edu	37	3	195022365	195022365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:195022365C>T	ENST00000326793.6	-	15	1564	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	445	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AAAATGAACCCCAAGGCTCCT	0.338000													16	23					0	0	0.006122	0	0
WDR96	80217	broad.mit.edu	37	10	105900683	105900683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:105900683C>T	ENST00000357060.3	-	34	4463	c.4348G>A	c.(4348-4350)Gaa>Aaa	p.E1450K	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.E1422K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1450										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGGAAATTTTCCAGTTCTACT	0.328000													16	24					0	0	0.004990	0	0
SPATA16	83893	broad.mit.edu	37	3	172834997	172834997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:172834997C>T	ENST00000351008.3	-	2	708	c.525G>A	c.(523-525)tgG>tgA	p.W175*		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	175					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTACCTGAAGCCATTTGTCAA	0.448000													42	26					0	0	0.006230	0	0
MAP4K1	11184	broad.mit.edu	37	19	39100580	39100580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:39100580G>A	ENST00000591517.1	-	12	924	c.896C>T	c.(895-897)tCc>tTc	p.S299F	MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.S299F|MAP4K1_ENST00000589130.1_Missense_Mutation_p.S295F|MAP4K1_ENST00000586296.1_Missense_Mutation_p.S299F|MAP4K1_ENST00000589002.1_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	299					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTCCCCAATGGAGGGTCCTTT	0.577000													27	42					0	0	0.010818	0	0
FSIP1	161835	broad.mit.edu	37	15	40068733	40068733	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:40068733C>T	ENST00000350221.3	-	2	203		c.e2-1		RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1											NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CATTGAAATCCTGAAACAACA	0.318000													38	3					0	0	0.005524	0	0
TMEM33	55161	broad.mit.edu	37	4	41951391	41951391	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:41951391C>T	ENST00000504986.1	+	6	968	c.603C>T	c.(601-603)aaC>aaT	p.N201N	TMEM33_ENST00000513702.1_Silent_p.N201N|TMEM33_ENST00000325094.5_Silent_p.N201N	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	201						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CTCGAAGAAACCCATATTGTC	0.323000													10	26					0	0	0.006214	0	0
SMC1B	27127	broad.mit.edu	37	22	45755719	45755719	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:45755719A>G	ENST00000357450.4	-	18	2827	c.2828T>C	c.(2827-2829)tTg>tCg	p.L943S	SMC1B_ENST00000404354.3_Missense_Mutation_p.L943S	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	943					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGACCCCGACAAAAGGATTAT	0.388000													18	24					0	0	0.010504	0	0
SFTPD	6441	broad.mit.edu	37	10	81697732	81697732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:81697732G>A	ENST00000372292.3	-	8	1044	c.1004C>T	c.(1003-1005)tCc>tTc	p.S335F		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	335	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GGCCCAGTTGGAATAGACCAG	0.552000													65	87					0	0	0.014410	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882108	228882108	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:228882108C>T	ENST00000392056.3	-	7	3508	c.3462G>A	c.(3460-3462)aaG>aaA	p.K1154K	SPHKAP_ENST00000344657.5_Silent_p.K1154K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1154						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)		TGCTGGCGTTCTTGCCAGCAT	0.517000													23	22					0	0	0.007291	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603463	138603463	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:138603463G>A	ENST00000440172.1	-	2	957	c.909C>T	c.(907-909)tcC>tcT	p.S303S	KIAA1549_ENST00000422774.1_Silent_p.S303S|KIAA1549_ENST00000242365.4_Silent_p.S253S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	303						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCTCCCCCAAGGAGGGCAACG	0.522000			O	BRAF	pilocytic astrocytoma								13	33					0	0	0.004990	0	0
KCNK10	54207	broad.mit.edu	37	14	88652049	88652049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:88652049C>T	ENST00000340700.5	-	7	1898	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	KCNK10_ENST00000319231.5_Missense_Mutation_p.E488K|KCNK10_ENST00000312350.5_Missense_Mutation_p.E488K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	483					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TTCTTCTCCTCGTCCAGGGAG	0.502000													38	42					0	0	0.004289	0	0
C2orf70	339778	broad.mit.edu	37	2	26800493	26800493	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:26800493T>A	ENST00000329615.3	+	3	489	c.458T>A	c.(457-459)gTc>gAc	p.V153D	C2orf70_ENST00000409392.1_Silent_p.R140R	NM_001105519.1	NP_001098989.1	A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	153										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						CTCCCCACCGTCCTGTGAGTG	0.602000											OREG0014506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	24					0	0	0.006214	0	0
DNAH3	55567	broad.mit.edu	37	16	20975263	20975263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:20975263C>T	ENST00000261383.3	-	53	9942	c.9943G>A	c.(9943-9945)Gag>Aag	p.E3315K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3315					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TACATCGGCTCGATGTTGGCC	0.502000													39	33					0	0	0.007835	0	0
U2AF2	11338	broad.mit.edu	37	19	56170677	56170677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:56170677C>T	ENST00000450554.2	+	2	1110	c.151C>T	c.(151-153)Cag>Tag	p.Q51*	U2AF2_ENST00000308924.4_Nonsense_Mutation_p.Q51*	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	51	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAACCGGGACCAGCGGAGCGC	0.736000													6	5					0	0	0.001984	0	0
GSG2	83903	broad.mit.edu	37	17	3627554	3627554	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:3627554C>T	ENST00000325418.4	+	1	344	c.325C>T	c.(325-327)Cta>Tta	p.L109L	ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	109					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										TCGCCCAAGCCTAACCGTGAC	0.736000													4	3					0	0	0.000602	0	0
BCL7B	9275	broad.mit.edu	37	7	72954228	72954228	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:72954228G>A	ENST00000223368.2	-	4	843	c.420C>T	c.(418-420)ggC>ggT	p.G140G	BCL7B_ENST00000482231.1_5'UTR|BCL7B_ENST00000411832.1_Intron	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	140							actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGATCTCCTGGCCCAGCGTTG	0.602000													15	16					0	0	0.006122	0	0
PKLR	5313	broad.mit.edu	37	1	155263258	155263258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:155263258G>A	ENST00000392414.3	-	8	1260	c.1147C>T	c.(1147-1149)Cct>Tct	p.P383S	PKLR_ENST00000342741.4_Missense_Mutation_p.P414S	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	414					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCTTCCACAGGGAAGTTGCCC	0.587000													7	20					0	0	0.003080	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18163821	18163821	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:18163821C>T	ENST00000278816.2	+	9	2513	c.1863C>T	c.(1861-1863)tcC>tcT	p.S621S	CSRP2BP_ENST00000377681.2_Silent_p.S620S|CSRP2BP_ENST00000489634.2_Silent_p.S493S|CSRP2BP_ENST00000435364.2_Silent_p.S621S			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	621					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGATTCGTTCCCACCTGCACA	0.507000													35	55					0	0	0.003271	0	0
FOXN1	8456	broad.mit.edu	37	17	26854336	26854336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:26854336C>T	ENST00000226247.2	+	3	685	c.656C>T	c.(655-657)cCc>cTc	p.P219L	FOXN1_ENST00000579795.1_Missense_Mutation_p.P219L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	219					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TACCAGCCTCCCTTGCAGCAT	0.572000													6	11					0	0	0.001168	0	0
DNMT1	1786	broad.mit.edu	37	19	10250954	10250954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:10250954C>T	ENST00000340748.4	-	32	3761	c.3526G>A	c.(3526-3528)Gcg>Acg	p.A1176T	DNMT1_ENST00000540357.1_Missense_Mutation_p.A1176T|DNMT1_ENST00000359526.4_Missense_Mutation_p.A1192T|DNMT1_ENST00000589538.1_Intron			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1176	Catalytic.|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)	AGCCGGAACGCCTGGGCCGCA	0.587000													20	27					0	0	0.014323	0	0
RORA	6095	broad.mit.edu	37	15	60919563	60919563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:60919563C>T	ENST00000261523.5	-	1	99	c.11G>A	c.(10-12)gGg>gAg	p.G4E	RORA_ENST00000309157.4_Missense_Mutation_p.G4E|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000335670.6_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000560004.1_Intron	NM_134260.2	NP_599022.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	4	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCCTGGGGCCCCCTCATTCAT	0.547000													100	3					0	0	0.014410	0	0
SLC5A4	6527	broad.mit.edu	37	22	32631046	32631046	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:32631046G>A	ENST00000266086.4	-	8	710	c.699C>T	c.(697-699)acC>acT	p.T233T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	233					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CGTACTTCTCGGTAAAGCTCT	0.453000													49	38					0	0	0.014410	0	0
CCDC150	284992	broad.mit.edu	37	2	197584355	197584355	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:197584355G>A	ENST00000389175.4	+	19	2265	c.2130G>A	c.(2128-2130)cgG>cgA	p.R710R	CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000409270.1_Silent_p.R197R|CCDC150_ENST00000272831.7_Silent_p.R357R	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	710										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCTTGGGCGGAGGGATTCAG	0.448000													12	7					0	0	0.004007	0	0
CAPN15	6650	broad.mit.edu	37	16	601531	601531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:601531C>T	ENST00000219611.2	+	9	2575	c.2212C>T	c.(2212-2214)Ccg>Tcg	p.P738S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		GCTCCGAAACCCGTGGGGCCG	0.697000													39	55					0	0	0.007835	0	0
SYNJ1	8867	broad.mit.edu	37	21	34053870	34053870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:34053870G>A	ENST00000382499.2	-	11	1405	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	SYNJ1_ENST00000382491.3_Missense_Mutation_p.S430F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.S430F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S469F|SYNJ1_ENST00000322229.7_Missense_Mutation_p.S430F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	430							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACCATTCACGGACCACATTGA	0.398000													47	52					0	0	0.014410	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47606130	47606130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:47606130G>A	ENST00000371917.4	+	20	2723	c.2723G>A	c.(2722-2724)gGa>gAa	p.G908E		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	908					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TACAGCATCGGACTCCAGAAC	0.488000													46	49					0	0	0.014410	0	0
OSBPL5	114879	broad.mit.edu	37	11	3150335	3150335	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:3150335G>C	ENST00000263650.7	-	2	203	c.44C>G	c.(43-45)cCa>cGa	p.P15R	OSBPL5_ENST00000348039.5_Missense_Mutation_p.P15R|OSBPL5_ENST00000389989.3_Missense_Mutation_p.P15R|OSBPL5_ENST00000542243.1_5'UTR	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	15					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGAGGAAGGTGGACACAGGGA	0.637000													2	0					0	0	0.004672	0	0
GALNT8	26290	broad.mit.edu	37	12	4853789	4853789	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:4853789C>T	ENST00000252318.2	+	4	1120	c.783C>T	c.(781-783)gcC>gcT	p.A261A		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	261	Catalytic subdomain A.					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						TTGCTCAAGCCCGCAACACTG	0.473000													9	10					0	0	0.006214	0	0
SCN10A	6336	broad.mit.edu	37	3	38793895	38793895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:38793895C>T	ENST00000449082.2	-	11	1569	c.1570G>A	c.(1570-1572)Gga>Aga	p.G524R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	524					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGAAAGACTCCATCATCTGTG	0.612000													18	9					0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9085631	9085631	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9085631T>C	ENST00000397910.4	-	1	6387	c.6184A>G	c.(6184-6186)Aca>Gca	p.T2062A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2062	Ser-rich.|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						GGCCAAGTTGTAGTGGGGAGA	0.468000													22	65					0	0	0.004656	0	0
FAT4	79633	broad.mit.edu	37	4	126412032	126412032	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:126412032C>T	ENST00000394329.3	+	17	14068	c.14055C>T	c.(14053-14055)agC>agT	p.S4685S	FAT4_ENST00000335110.5_Silent_p.S2926S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4685					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						TGAGAACCAGCTCCCTAAGCC	0.522000													55	113					0	0	0.014410	0	0
CD163L1	283316	broad.mit.edu	37	12	7548820	7548820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:7548820C>T	ENST00000313599.3	-	8	1978	c.1921G>A	c.(1921-1923)Gga>Aga	p.G641R	CD163L1_ENST00000396630.1_Missense_Mutation_p.G641R|CD163L1_ENST00000416109.2_Missense_Mutation_p.G651R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	641	SRCR 6.					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						TTTCCATATCCTGTAGAAGCG	0.493000													26	20					0	0	0.006320	0	0
LAMB1	3912	broad.mit.edu	37	7	107603364	107603364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:107603364G>A	ENST00000393561.1	-	13	2099	c.1915C>T	c.(1915-1917)Cgc>Tgc	p.R639C	LAMB1_ENST00000222399.6_Missense_Mutation_p.R615C|LAMB1_ENST00000393560.1_Missense_Mutation_p.R615C			P07942	LAMB1_HUMAN	laminin, beta 1	615	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.R615C(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTCGTAGCGAATTAGGATG	0.453000													39	60					0	0	0.010771	0	0
CNGB3	54714	broad.mit.edu	37	8	87645075	87645075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:87645075C>T	ENST00000320005.5	-	11	1272	c.1225G>A	c.(1225-1227)Ggt>Agt	p.G409S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	409					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGAAGGCCACCAATGGTAATT	0.328000													12	13					0	0	0.001855	0	0
CLVS1	157807	broad.mit.edu	37	8	62212441	62212441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:62212441G>A	ENST00000519846.1	+	3	527	c.55G>A	c.(55-57)Gat>Aat	p.D19N	CLVS1_ENST00000325897.4_Missense_Mutation_p.D19N|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	19					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTGGAACGGAGATTTGGCCAA	0.448000													8	13					0	0	0.008291	0	0
ZNF737	100129842	broad.mit.edu	37	19	20736519	20736519	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:20736519G>A	ENST00000427401.4	-	2	220	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ZNF737_ENST00000596797.1_Silent_p.F42F	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	42					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTCACCAAGGAAGACCAGGT	0.333000													23	38					0	0	0.006320	0	0
LCT	3938	broad.mit.edu	37	2	136574996	136574996	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:136574996T>G	ENST00000264162.2	-	6	1632	c.1622A>C	c.(1621-1623)cAt>cCt	p.H541P		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	541	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCACGGCTCATGGAAGGTCAC	0.592000													18	9					0	0	0.006122	0	0
CNGB3	54714	broad.mit.edu	37	8	87680386	87680386	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:87680386C>T	ENST00000320005.5	-	5	551	c.504G>A	c.(502-504)acG>acA	p.T168T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	168					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTGGTACAGCCGTGGGCTTTG	0.358000													13	25					0	0	0.002450	0	0
GFAP	2670	broad.mit.edu	37	17	42991119	42991119	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:42991119A>C	ENST00000253408.5	-	3	660	c.595T>G	c.(595-597)Ttc>Gtc	p.F199V	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.F199V|GFAP_ENST00000435360.2_Missense_Mutation_p.F199V	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	199	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTCCTCAAGAACCGGATCTCC	0.572000													83	111					0	0	0.014410	0	0
ZNF648	127665	broad.mit.edu	37	1	182026593	182026593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:182026593C>T	ENST00000339948.3	-	2	760	c.553G>A	c.(553-555)Ggg>Agg	p.G185R		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GAAGAGTTCCCTGCGGACGTG	0.592000													4	26					0	0	0.009096	0	0
ADH1C	126	broad.mit.edu	37	4	100260829	100260829	+	RNA	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:100260829A>G	ENST00000515683.1	-	0	1359					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCTTAGCCATAAAGTCAGCCA	0.348000													74	36					0	0	0.014410	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122923830	122923830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:122923830C>T	ENST00000395412.1	+	7	1461	c.742C>T	c.(742-744)Cct>Tct	p.P248S	CSNK1G3_ENST00000360683.2_Missense_Mutation_p.P248S|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.P248S|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.P248S|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.P248S|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.P135S|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.P248S|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.P173S|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.P248S	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	248	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AGGCAGTCTTCCTTGGCAAGG	0.294000													16	30					0	0	0.008871	0	0
RANBP2	5903	broad.mit.edu	37	2	109389502	109389502	+	Splice_Site	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:109389502A>C	ENST00000283195.6	+	23	8418	c.8292_splice	c.e23+1	p.Q2764_splice		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2764					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGGAAGCTCAAGTAAGAACAT	0.333000													4	12					0	0	0.009096	0	0
MYO1D	4642	broad.mit.edu	37	17	30965783	30965783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:30965783G>A	ENST00000318217.5	-	20	2970	c.2666C>T	c.(2665-2667)cCc>cTc	p.P889L	MYO1D_ENST00000579584.1_Missense_Mutation_p.P889L|MYO1D_ENST00000394649.4_Missense_Mutation_p.P801L|RP11-220C2.1_ENST00000582272.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	889						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CTGTTTAGTGGGATCCATTTT	0.398000													22	27					0	0	0.007291	0	0
TENM3	55714	broad.mit.edu	37	4	183601734	183601734	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:183601734T>G	ENST00000511685.1	+	10	1801	c.1678T>G	c.(1678-1680)Tcc>Gcc	p.S560A	TENM3_ENST00000406950.2_Missense_Mutation_p.S560A|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		CGGGCAGTACTCCAAGGGCCG	0.552000													16	85					0	0	0.008871	0	0
SORCS3	22986	broad.mit.edu	37	10	106916912	106916912	+	Missense_Mutation	SNP	G	G	A	rs113870624		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:106916912G>A	ENST00000369701.3	+	10	1726	c.1499G>A	c.(1498-1500)gGg>gAg	p.G500E		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	500						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTATCAAAGGGATATTTCTG	0.502000													19	36					0	0	0.012319	0	0
FREM1	158326	broad.mit.edu	37	9	14775852	14775852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:14775852C>T	ENST00000380881.4	-	26	5610	c.4795G>A	c.(4795-4797)Ggg>Agg	p.G1599R	FREM1_ENST00000380894.1_Missense_Mutation_p.G134R|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Missense_Mutation_p.G1598R|FREM1_ENST00000380880.3_Missense_Mutation_p.G1598R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1598					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGGTTTGTCCCATCTGTGGCC	0.468000													30	26					0	0	0.007291	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292703	4292703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:4292703G>A	ENST00000301272.2	-	5	787	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	TMIGD2_ENST00000595645.1_Missense_Mutation_p.P244S|TMIGD2_ENST00000600349.1_Missense_Mutation_p.P76S|TMIGD2_ENST00000600114.1_Missense_Mutation_p.P128S	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	248	Pro-rich.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		ctggggctggggcagggtctc	0.677000													22	32					0	0	0.014323	0	0
PTPRH	5794	broad.mit.edu	37	19	55716713	55716713	+	Silent	SNP	C	C	T	rs149789995	byFrequency	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:55716713C>T	ENST00000376350.3	-	4	622	c.600G>A	c.(598-600)gaG>gaA	p.E200E	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	200	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CATTTCGAGTCTCCCGGGAGC	0.502000													36	62					0	0	0.009718	0	0
UGT2A1	10941	broad.mit.edu	37	4	70462093	70462093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:70462093C>T	ENST00000503640.1	-	3	926	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	UGT2A1_ENST00000512704.1_Intron|UGT2A2_ENST00000457664.2_Missense_Mutation_p.E300K|UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000502343.1_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	291					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						ATAAATTCTTCCATTTCCTGC	0.313000													4	3					0	0	0.000602	0	0
SCN8A	6334	broad.mit.edu	37	12	52184276	52184276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:52184276C>T	ENST00000354534.5	+	25	4692	c.4514C>T	c.(4513-4515)cCc>cTc	p.P1505L	SCN8A_ENST00000545061.1_Missense_Mutation_p.P1464L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1505					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAACCTATTCCCCGCCCCTTG	0.458000													5	15					0	0	0.001168	0	0
C1orf105	92346	broad.mit.edu	37	1	172425578	172425578	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:172425578C>T	ENST00000367727.4	+	4	420	c.222C>T	c.(220-222)tcC>tcT	p.S74S	C1orf105_ENST00000367725.4_Silent_p.S64S|C1orf105_ENST00000367726.1_Intron	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	74										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGTGTGACTCCATGCTGCTCA	0.532000													66	36					0	0	0.014410	0	0
MYL7	58498	broad.mit.edu	37	7	44179140	44179140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:44179140C>T	ENST00000458240.1	-	5	613	c.325G>A	c.(325-327)Gac>Aac	p.D109N	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000223364.3_Missense_Mutation_p.D136N			Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	136	EF-hand 2.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						GAGAACTTGTCTGCCTGGGTC	0.617000													77	3					0	0	0.014410	0	0
PCTP	58488	broad.mit.edu	37	17	53852169	53852169	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:53852169C>T	ENST00000576183.1	+	5	571	c.528C>T	c.(526-528)ttC>ttT	p.F176F	PCTP_ENST00000325214.6_Silent_p.F104F|PCTP_ENST00000576221.1_3'UTR|PCTP_ENST00000573500.1_Silent_p.F176F|PCTP_ENST00000268896.5_Silent_p.F176F			Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	176	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TGTATTACTTCGATAACCCGG	0.463000													39	53					0	0	0.013114	0	0
SCN8A	6334	broad.mit.edu	37	12	52200889	52200889	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:52200889C>T	ENST00000354534.5	+	27	5797	c.5619C>T	c.(5617-5619)ttC>ttT	p.F1873F	SCN8A_ENST00000545061.1_Silent_p.F1832F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1873					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAGAGCGGTTCGTGGCATCCA	0.567000													36	64					0	0	0.004878	0	0
ARIH2	10425	broad.mit.edu	37	3	49005998	49005998	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:49005998C>T	ENST00000356401.4	+	7	909	c.570C>T	c.(568-570)ctC>ctT	p.L190L	ARIH2_ENST00000449376.1_Silent_p.L190L|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	190					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ACTGTCCACTCCGTACACCAG	0.502000													60	42					0	0	0.014410	0	0
FAT4	79633	broad.mit.edu	37	4	126373533	126373533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:126373533G>A	ENST00000394329.3	+	9	11375	c.11362G>A	c.(11362-11364)Gag>Aag	p.E3788K	FAT4_ENST00000335110.5_Missense_Mutation_p.E2086K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3788					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						AAGCATCAAAGAGATCCTTCT	0.463000													16	25					0	0	0.003163	0	0
MLLT4	4301	broad.mit.edu	37	6	168272950	168272950	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:168272950C>T	ENST00000366806.2	+	4	613	c.471C>T	c.(469-471)ttC>ttT	p.F157F	MLLT4_ENST00000447894.2_Silent_p.F157F|MLLT4_ENST00000351017.4_Silent_p.F157F|MLLT4_ENST00000392108.3_Silent_p.F157F|MLLT4_ENST00000392112.1_Silent_p.F156F|MLLT4_ENST00000400822.3_Silent_p.F156F|MLLT4_ENST00000344191.4_Silent_p.F157F			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	157					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCCAGAACTTCAAGAGAACTC	0.383000			T	MLL	AL								33	38					0	0	0.013726	0	0
APOE	348	broad.mit.edu	37	19	45411097	45411097	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:45411097C>T	ENST00000252486.4	+	3	235	c.124C>T	c.(124-126)Cag>Tag	p.Q42*		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	42					anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GCAGAGCGGCCAGCGCTGGGA	0.637000													104	122					0	0	0.014410	0	0
TECPR1	25851	broad.mit.edu	37	7	97851721	97851721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:97851721G>A	ENST00000447648.2	-	22	3340	c.3041C>T	c.(3040-3042)tCc>tTc	p.S1014F	TECPR1_ENST00000379795.3_Missense_Mutation_p.S1016F|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1014						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGGTACACGGATCCCCGGTA	0.667000													7	11					0	0	0.004482	0	0
TDP2	51567	broad.mit.edu	37	6	24654716	24654716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:24654716G>A	ENST00000341060.3	-	4	781	c.386C>T	c.(385-387)tCa>tTa	p.S129L	TDP2_ENST00000478285.1_5'UTR|TDP2_ENST00000378198.4_Missense_Mutation_p.S187L|TDP2_ENST00000545995.1_Missense_Mutation_p.S217L			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	187					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TTTCACTCTTGATTTCTTCAA	0.308000								Direct reversal of damage					13	9					0	0	0.002450	0	0
MMEL1	79258	broad.mit.edu	37	1	2525362	2525362	+	Silent	SNP	G	G	A	rs141783638		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:2525362G>A	ENST00000288709.6	-	19	1971	c.1731C>T	c.(1729-1731)gcC>gcT	p.A577A	MMEL1_ENST00000502556.1_Silent_p.A429A|MMEL1_ENST00000378412.3_Silent_p.A586A	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	586					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGAGGATCCCGGCAGGGAATA	0.597000													9	32					0	0	0.010729	0	0
DDX11	1663	broad.mit.edu	37	12	31255196	31255196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:31255196G>A	ENST00000407793.2	+	22	2473	c.2222G>A	c.(2221-2223)aGc>aAc	p.S741N	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.S741N|DDX11_ENST00000350437.4_Missense_Mutation_p.S691N|DDX11_ENST00000545668.1_Missense_Mutation_p.S741N|DDX11_ENST00000228264.6_Missense_Mutation_p.S715N	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	741					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAACCTAAGAGCGCACACCAG	0.577000										Multiple Myeloma(12;0.14)			33	21					0	0	0.006999	0	0
DMBT1	1755	broad.mit.edu	37	10	124345824	124345824	+	Silent	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:124345824T>C	ENST00000338354.3	+	16	1814	c.1708T>C	c.(1708-1710)Ttg>Ctg	p.L570L	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Silent_p.L560L|DMBT1_ENST00000368955.3_Silent_p.L560L|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Silent_p.L570L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	570	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGAGTCCTACTTGTGGAGCTG	0.582000													40	55					0	0	0.014410	0	0
CGN	57530	broad.mit.edu	37	1	151502584	151502584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:151502584G>A	ENST00000271636.7	+	12	2439	c.2306G>A	c.(2305-2307)cGg>cAg	p.R769Q		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	763	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGCTGCAGCGGCTGGAGGTC	0.592000													54	23					0	0	0.014410	0	0
KIF1C	10749	broad.mit.edu	37	17	4927149	4927149	+	Silent	SNP	C	C	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4927149C>G	ENST00000320785.5	+	23	3372	c.3015C>G	c.(3013-3015)ccC>ccG	p.P1005P		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	1005	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|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						CGCTCCAACCCCCTGAGGAGG	0.687000													7	29					0	0	0.004482	0	0
ANTXR1	84168	broad.mit.edu	37	2	69329998	69329998	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:69329998G>C	ENST00000303714.4	+	10	1050	c.728G>C	c.(727-729)gGa>gCa	p.G243A	ANTXR1_ENST00000409829.3_Missense_Mutation_p.G243A|ANTXR1_ENST00000409349.3_Missense_Mutation_p.G243A	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	243					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTCGTGAGAGGAAACGGCTTC	0.478000									Familial Infantile Hemangioma				27	185					0	0	0.008361	0	0
WISP2	8839	broad.mit.edu	37	20	43348728	43348728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:43348728C>T	ENST00000372868.2	+	3	594	c.251C>T	c.(250-252)cCc>cTc	p.P84L	RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.P84L|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.P84L			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	84	IGFBP N-terminal.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GGGGCAGGACCCGGTGGCCGG	0.701000													4	3					0	0	0.001168	0	0
CARNS1	57571	broad.mit.edu	37	11	67187015	67187015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:67187015C>T	ENST00000445895.2	+	5	1024	c.910C>T	c.(910-912)Ccg>Tcg	p.P304S	CARNS1_ENST00000531040.1_Missense_Mutation_p.P304S|CARNS1_ENST00000423745.2_Missense_Mutation_p.P181S|CARNS1_ENST00000307823.3_Missense_Mutation_p.P181S			A5YM72	CRNS1_HUMAN	carnosine synthase 1	181					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GCGTCTGCACCCGCGGGCAGA	0.677000													16	20					0	0	0.004990	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111667470	111667470	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:111667470G>A	ENST00000369680.4	-	3	344	c.96C>T	c.(94-96)atC>atT	p.I32I	XPNPEP1_ENST00000322238.8_Silent_p.I75I|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_5'UTR|XPNPEP1_ENST00000502935.1_Silent_p.I75I	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	32					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CTCCCGATGGGATGATGTAGG	0.498000													54	85					0	0	0.014410	0	0
HAL	3034	broad.mit.edu	37	12	96389601	96389601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:96389601C>A	ENST00000261208.3	-	2	456	c.88G>T	c.(88-90)Gag>Tag	p.E30*	HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Nonsense_Mutation_p.E30*	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	30					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CTCACGGCCTCCCGGCCCAGC	0.652000													11	9					2.80697e-09	3.7367e-09	0.010729	1	0
PPFIA2	8499	broad.mit.edu	37	12	82147871	82147871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:82147871G>A	ENST00000550584.2	-	2	425	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	PPFIA2_ENST00000549325.1_Missense_Mutation_p.R44C|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R44C|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R44C|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R44C|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R44C	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	303								p.R44S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTAGAAGACGATCCCTTTCA	0.527000													13	4					0	0	0.004007	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891277	18891277	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:18891277G>A	ENST00000317658.3	+	1	233	c.75G>A	c.(73-75)ggG>ggA	p.G25G		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	25					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CCCCTCCAGGGGAATTTGTAA	0.458000													17	11					0	0	0.004007	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29954921	29954921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr22:29954921C>T	ENST00000216121.7	-	9	982	c.728G>A	c.(727-729)cGg>cAg	p.R243Q		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	243										large_intestine(2)|lung(2)|skin(1)	5						AGTCTCCTCCCGAGACTGCAG	0.542000													29	37					0	0	0.003271	0	0
DAZAP1	26528	broad.mit.edu	37	19	1421204	1421204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:1421204C>T	ENST00000336761.6	+	5	566	c.361C>T	c.(361-363)Cct>Tct	p.P121S	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Missense_Mutation_p.P121S	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	121	RRM 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CGGTGGAATTCCTCACAATTG	0.498000													35	31					0	0	0.006230	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698491	103698491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:103698491C>T	ENST00000245312.3	-	6	1635	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	347					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTCTACTTTTCGTCAGGTTGA	0.373000													12	22					0	0	0.004007	0	0
OGT	8473	broad.mit.edu	37	X	70783276	70783276	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:70783276A>G	ENST00000373719.3	+	18	2580	c.2363A>G	c.(2362-2364)gAa>gGa	p.E788G	OGT_ENST00000373701.3_Missense_Mutation_p.E778G	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	788					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCAGTTATTGAAATGATTAAC	0.363000													14	2					0	0	0.002450	0	0
PDE6C	5146	broad.mit.edu	37	10	95380727	95380727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:95380727G>A	ENST00000371447.3	+	3	851	c.713G>A	c.(712-714)cGa>cAa	p.R238Q		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	238					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				ATTGAATCCCGAAGAAGCCAG	0.448000													103	120					0	0	0.014410	0	0
DCLK3	85443	broad.mit.edu	37	3	36779082	36779082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:36779082C>T	ENST00000416516.2	-	2	1559	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	357	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CGGCCAGTCTCATAATGCTTT	0.582000													28	14					0	0	0.010818	0	0
FAM219B	57184	broad.mit.edu	37	15	75195110	75195110	+	Silent	SNP	C	C	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:75195110C>A	ENST00000357635.5	-	5	767	c.447G>T	c.(445-447)gtG>gtT	p.V149V	FAM219B_ENST00000563706.1_5'UTR|FAM219B_ENST00000563119.1_Silent_p.V149V|FAM219B_ENST00000565772.1_Silent_p.V63V	NM_020447.3	NP_065180.1	Q5XKK7	CO017_HUMAN	family with sequence similarity 219, member B	149							cytochrome-c oxidase activity										GCTGCCGGCTCACATCCTGGT	0.517000													73	4					1.68508e-47	2.27434e-47	0.014410	1	0
AATK	9625	broad.mit.edu	37	17	79094802	79094802	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:79094802C>T	ENST00000326724.4	-	11	2958	c.2934G>A	c.(2932-2934)cgG>cgA	p.R978R	AATK_ENST00000417379.1_Silent_p.R875R	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	978						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGGTGGAGAGCCGTGTCTCGG	0.652000													9	7					0	0	0.013537	0	0
ST18	9705	broad.mit.edu	37	8	53084866	53084866	+	Silent	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:53084866G>C	ENST00000276480.7	-	10	1238	c.555C>G	c.(553-555)ccC>ccG	p.P185P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	185						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGGAGCAGAAGGGTGGCTGAG	0.458000													24	15					0	0	0.009535	0	0
ANAPC2	29882	broad.mit.edu	37	9	140075311	140075311	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:140075311G>A	ENST00000323927.2	-	8	1543	c.1539C>T	c.(1537-1539)gaC>gaT	p.D513D		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	513					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGATGAAGAGGTCCTTGCTGC	0.637000													30	13					0	0	0.003271	0	0
COL6A2	1292	broad.mit.edu	37	21	47545922	47545922	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:47545922G>A	ENST00000300527.4	+	26	2297	c.2193G>A	c.(2191-2193)acG>acA	p.T731T	COL6A2_ENST00000409416.1_Silent_p.T731T|COL6A2_ENST00000310645.5_Silent_p.T731T|COL6A2_ENST00000357838.4_Silent_p.T731T|COL6A2_ENST00000397763.1_Silent_p.T731T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	731	Nonhelical region.|VWFA 2.				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)		TGGTCATCACGGACGGGCGCC	0.657000													26	21					0	0	0.005443	0	0
OR6K6	128371	broad.mit.edu	37	1	158725174	158725174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:158725174G>A	ENST00000368144.2	+	1	665	c.569G>A	c.(568-570)tGg>tAg	p.W190*		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GAGATTGCATGGATTTCCACC	0.488000													13	57					0	0	0.001855	0	0
PREPL	9581	broad.mit.edu	37	2	44569614	44569614	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:44569614G>C	ENST00000541738.1	-	5	813	c.427C>G	c.(427-429)Cga>Gga	p.R143G	PREPL_ENST00000378511.3_Missense_Mutation_p.R232G|PREPL_ENST00000378520.3_Missense_Mutation_p.R232G|PREPL_ENST00000260648.6_Missense_Mutation_p.R232G|PREPL_ENST00000409411.1_Missense_Mutation_p.R143G|PREPL_ENST00000409272.1_Missense_Mutation_p.R232G|PREPL_ENST00000409936.1_Missense_Mutation_p.R232G|PREPL_ENST00000410081.1_Missense_Mutation_p.R232G|PREPL_ENST00000409957.1_Missense_Mutation_p.R143G	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	232					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAAGTGGCTCGATATACGTCA	0.363000													30	26					0	0	0.003755	0	0
LAMA2	3908	broad.mit.edu	37	6	129786341	129786341	+	Missense_Mutation	SNP	G	G	A	rs141476898		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:129786341G>A	ENST00000421865.2	+	51	7256	c.7207G>A	c.(7207-7209)Gat>Aat	p.D2403N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2403	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGTCAGTTACGATCTGGGCTC	0.398000													4	4					0	0	0.009096	0	0
SLC38A3	10991	broad.mit.edu	37	3	50256069	50256069	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:50256069C>T	ENST00000420502.1	+	0	1234							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CAAGGTGGACCCGTTTGACGT	0.642000													10	31					0	0	0.008291	0	0
KCNB2	9312	broad.mit.edu	37	8	73849436	73849436	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:73849436A>C	ENST00000523207.1	+	3	2434	c.1846A>C	c.(1846-1848)Aca>Cca	p.T616P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	616					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)			CTTCACAGAGACAGAGAGATC	0.612000													20	44					0	0	0.008871	0	0
TRIO	7204	broad.mit.edu	37	5	14369626	14369626	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:14369626C>T	ENST00000344204.4	+	18	3234	c.3210C>T	c.(3208-3210)ttC>ttT	p.F1070F	TRIO_ENST00000509967.2_Silent_p.F1021F|TRIO_ENST00000537187.1_Silent_p.F1070F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1070					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGGAGGCATTCCTGAAGGTAG	0.632000													25	33					0	0	0.009535	0	0
CYP2C9	1559	broad.mit.edu	37	10	96702028	96702028	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:96702028G>A	ENST00000260682.6	+	3	423	c.411G>A	c.(409-411)ggG>ggA	p.G137G	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	137					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTGGGATGGGGAAGAGGAGCA	0.498000													22	27					0	0	0.003954	0	0
OAS2	4939	broad.mit.edu	37	12	113444298	113444298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:113444298G>A	ENST00000392583.2	+	8	1756	c.1549G>A	c.(1549-1551)Gga>Aga	p.G517R	OAS2_ENST00000342315.4_Missense_Mutation_p.G517R|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	517	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGACCTCCCGGGAGGAGAGTT	0.527000													52	30					0	0	0.014410	0	0
CYP26A1	1592	broad.mit.edu	37	10	94836737	94836737	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:94836737G>A	ENST00000371531.1	+	7	1341	c.963G>A	c.(961-963)aaG>aaA	p.K321K	CYP26A1_ENST00000224356.4_Silent_p.K390K|CYP26A1_ENST00000394139.1_Silent_p.K321K	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	390					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				AGATTCCCAAGGGCTGGAATG	0.423000													29	25					0	0	0.013726	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881402	33881402	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:33881402A>T	ENST00000504830.1	-	2	646	c.311T>A	c.(310-312)tTt>tAt	p.F104Y	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.F104Y|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.F104Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	104					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CGTCAAGTTAAAAAACAGGTC	0.468000										HNSCC(64;0.19)			47	47					0	0	0.014410	0	0
TBCD	6904	broad.mit.edu	37	17	80763833	80763833	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:80763833A>C	ENST00000355528.4	+	10	1163	c.1033A>C	c.(1033-1035)Acc>Ccc	p.T345P	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.T345P	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	345					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			ACTCATCCTGACcgaagatga	0.597000													16	1					0	0	0.008871	0	0
ITPR3	3710	broad.mit.edu	37	6	33639824	33639824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:33639824C>T	ENST00000374316.5	+	23	3807	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	ITPR3_ENST00000605930.1_Missense_Mutation_p.S916F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	916					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTGCGGCGGTCCATCCAGGGC	0.632000													17	26					0	0	0.007413	0	0
SENP6	26054	broad.mit.edu	37	6	76388549	76388549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:76388549C>T	ENST00000370014.3	+	16	2600	c.1981C>T	c.(1981-1983)Cca>Tca	p.P661S	SENP6_ENST00000327284.8_Missense_Mutation_p.P654S|SENP6_ENST00000370010.2_Missense_Mutation_p.P654S|SENP6_ENST00000541192.1_Missense_Mutation_p.P257S|SENP6_ENST00000447266.2_Missense_Mutation_p.P661S	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	661					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TCCACCACCTCCAGCTAAGGG	0.318000													12	9					0	0	0.010729	0	0
OR10S1	219873	broad.mit.edu	37	11	123847875	123847875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:123847875G>A	ENST00000531945.1	-	1	613	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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;0.0399)		GAAGGTGAGGGAGGTGTGGAT	0.567000													14	25					0	0	0.003163	0	0
GLP2R	9340	broad.mit.edu	37	17	9739745	9739745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:9739745G>A	ENST00000262441.5	+	3	848	c.335G>A	c.(334-336)gGa>gAa	p.G112E	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	112					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCTTCTCCTGGAAATGTCTCT	0.413000													61	57					0	0	0.014410	0	0
ANK3	288	broad.mit.edu	37	10	61898739	61898739	+	Silent	SNP	G	G	A	rs142825560	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:61898739G>A	ENST00000280772.1	-	24	2912	c.2721C>T	c.(2719-2721)ctC>ctT	p.L907L	ANK3_ENST00000355288.2_Silent_p.L41L|ANK3_ENST00000373827.2_Silent_p.L901L|ANK3_ENST00000503366.1_Silent_p.L908L|ANK3_ENST00000460468.1_Silent_p.L71L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	907					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						AACGCGCTCCGAGACTAAAGC	0.428000													4	18					0	0	0.009096	0	0
NWD1	284434	broad.mit.edu	37	19	16861191	16861191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:16861191G>A	ENST00000524140.2	+	6	2156	c.1738G>A	c.(1738-1740)Gcc>Acc	p.A580T	NWD1_ENST00000552788.1_Missense_Mutation_p.A580T|NWD1_ENST00000549814.1_Missense_Mutation_p.A580T|NWD1_ENST00000523826.1_Missense_Mutation_p.A374T|NWD1_ENST00000379808.3_Missense_Mutation_p.A580T|NWD1_ENST00000339803.6_Missense_Mutation_p.A445T	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	580	NACHT.						ATP binding			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						GCTCCTCGTGGCCCACGTGCT	0.517000													9	11					0	0	0.013537	0	0
SAMD11	148398	broad.mit.edu	37	1	879085	879085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:879085G>A	ENST00000342066.3	+	13	1780	c.1697G>A	c.(1696-1698)aGg>aAg	p.R566K		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	566	SAM.					nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CAGGTCTTCAGGGAGCAGGGG	0.667000													5	13					0	0	0.000602	0	0
SYT15	83849	broad.mit.edu	37	10	46967612	46967612	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:46967612C>T	ENST00000374323.3	-	3	1211	c.624G>A	c.(622-624)gtG>gtA	p.V208V	SYT15_ENST00000374321.4_Silent_p.V155V|SYT15_ENST00000503753.1_Silent_p.V155V|SYT15_ENST00000374325.3_Silent_p.V155V			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	155	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCTCATATTCCACCGAGAACC	0.627000													18	43					0	0	0.007413	0	0
TMEM144	55314	broad.mit.edu	37	4	159158716	159158716	+	Silent	SNP	A	A	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:159158716A>C	ENST00000296529.6	+	9	1123	c.603A>C	c.(601-603)ggA>ggC	p.G201G	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	201						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TACTCTATGGATCTACATTTG	0.378000													23	56					0	0	0.003330	0	0
ACBD5	91452	broad.mit.edu	37	10	27497367	27497367	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:27497367C>T	ENST00000396271.3	-	10	1338	c.1212G>A	c.(1210-1212)agG>agA	p.R404R	ACBD5_ENST00000375905.4_Silent_p.R369R|ACBD5_ENST00000375888.1_Silent_p.R413R|ACBD5_ENST00000375901.1_Silent_p.R295R|ACBD5_ENST00000375897.3_Silent_p.R227R|ACBD5_ENST00000476758.1_5'UTR	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	413					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGTGTTGCATCCTATGTCCTA	0.448000													14	38					0	0	0.004990	0	0
ADCY8	114	broad.mit.edu	37	8	131949404	131949404	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:131949404A>T	ENST00000286355.5	-	5	3488	c.1396T>A	c.(1396-1398)Tac>Aac	p.Y466N	ADCY8_ENST00000377928.3_Missense_Mutation_p.Y466N|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	466					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)			GACACGCAGTAGTAGCAGTCC	0.502000										HNSCC(32;0.087)			11	4					0	0	0.008291	0	0
SNRPA	6626	broad.mit.edu	37	19	41269566	41269566	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41269566C>T	ENST00000243563.3	+	5	1225	c.675C>T	c.(673-675)tcC>tcT	p.S225S		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	225	RRM 2.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCATGCTGTCCATGCTTTTCA	0.567000													47	54					0	0	0.014410	0	0
PCNT	5116	broad.mit.edu	37	21	47831556	47831556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:47831556C>T	ENST00000359568.5	+	28	5676	c.5569C>T	c.(5569-5571)Cag>Tag	p.Q1857*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1857					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTCCCGGATCCAGGAGTTCGA	0.612000													12	26					0	0	0.003163	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693117	69693117	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:69693117G>A	ENST00000265403.7	+	5	1185	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	UGT2B10_ENST00000458688.2_Silent_p.G302G	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	386					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						TCTACCATGGGATCCCTATGG	0.413000													6	23					0	0	0.003080	0	0
INSR	3643	broad.mit.edu	37	19	7122740	7122740	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:7122740C>T	ENST00000341500.5	-	18	3417	c.3378G>A	c.(3376-3378)caG>caA	p.Q1126Q	INSR_ENST00000302850.5_Silent_p.Q1138Q	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1138	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGCCGCCATCTGAATCATCT	0.547000													214	222					0	0	0.014410	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255427	25255427	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:25255427A>G	ENST00000328086.7	-	6	2463	c.1660T>C	c.(1660-1662)Ttc>Ctc	p.F554L		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	554					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AGGCTTTTGAACTTGGTTCGG	0.527000													20	37					0	0	0.002780	0	0
DKK4	27121	broad.mit.edu	37	8	42231869	42231869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:42231869C>T	ENST00000220812.2	-	4	610	c.424G>A	c.(424-426)Gga>Aga	p.G142R		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	142					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAACTTTCTCCCTCTTGTCCT	0.463000													16	2					0	0	0.004990	0	0
LTBP1	4052	broad.mit.edu	37	2	33498821	33498821	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:33498821T>C	ENST00000404816.2	+	16	3069	c.2716T>C	c.(2716-2718)Ttc>Ctc	p.F906L	LTBP1_ENST00000404525.1_Missense_Mutation_p.F527L|LTBP1_ENST00000354476.3_Missense_Mutation_p.F907L|LTBP1_ENST00000402934.1_Missense_Mutation_p.F527L|LTBP1_ENST00000407925.1_Missense_Mutation_p.F580L|LTBP1_ENST00000390003.4_Missense_Mutation_p.F581L|LTBP1_ENST00000418533.2_Missense_Mutation_p.F580L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	906	EGF-like 4; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGGCTACAGGTTCAGTGAACA	0.353000													3	10					0	0	0.001168	0	0
EPHA2	1969	broad.mit.edu	37	1	16475016	16475016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:16475016G>A	ENST00000358432.5	-	3	834	c.680C>T	c.(679-681)gCc>gTc	p.A227V	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	227	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACAGGTGCCGGCCACAGTGGC	0.657000													28	13					0	0	0.012213	0	0
TTN	7273	broad.mit.edu	37	2	179453853	179453853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:179453853G>A	ENST00000589042.1	-	304	62823	c.62599C>T	c.(62599-62601)Cct>Tct	p.P20867S	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P11802S|TTN_ENST00000359218.5_Missense_Mutation_p.P11927S|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P11994S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18299S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P19226S|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19226	Fibronectin type-III 51.						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)			TTTCTCACAGGACCAGGCTTA	0.433000													11	7					0	0	0.001855	0	0
KBTBD12	166348	broad.mit.edu	37	3	127682111	127682111	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:127682111G>A	ENST00000405109.1	+	5	2039	c.1572G>A	c.(1570-1572)ggG>ggA	p.G524G	KBTBD12_ENST00000407609.3_Silent_p.G131G|KBTBD12_ENST00000405256.1_Silent_p.G524G|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Silent_p.G99G			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	524										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						ACCCAGATGGGGACTTTTGGC	0.552000													9	7					0	0	0.008291	0	0
OAS3	4940	broad.mit.edu	37	12	113385903	113385903	+	Splice_Site	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:113385903C>T	ENST00000228928.7	+	5	1207	c.1029_splice	c.e5+1	p.P343_splice	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	343	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGAAGGGGCCGGTAAGTGAG	0.567000													12	12					0	0	0.004007	0	0
TKTL2	84076	broad.mit.edu	37	4	164393517	164393517	+	Missense_Mutation	SNP	G	G	A	rs145423814		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:164393517G>A	ENST00000280605.3	-	1	1530	c.1370C>T	c.(1369-1371)tCg>tTg	p.S457L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	457						cytoplasm	metal ion binding|transketolase activity	p.S457L(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)				ATGCTCTGTCGAGATGGCATC	0.463000													102	48					0	0	0.014410	0	0
RYR3	6263	broad.mit.edu	37	15	34015006	34015006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:34015006G>A	ENST00000389232.4	+	44	6780	c.6710G>A	c.(6709-6711)gGa>gAa	p.G2237E	RYR3_ENST00000415757.3_Missense_Mutation_p.G2237E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2237	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G2237E(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGTGAGGGGGGAAACGGGCTC	0.572000													55	56					0	0	0.014410	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552073	178552073	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:178552073G>A	ENST00000251582.7	-	19	2960	c.2859C>T	c.(2857-2859)tcC>tcT	p.S953S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	953	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGGCGTGCACGGAGCGGGTGG	0.701000													54	76					0	0	0.014410	0	0
LBR	3930	broad.mit.edu	37	1	225611708	225611708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:225611708C>T	ENST00000338179.2	-	2	195	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	LBR_ENST00000272163.4_Missense_Mutation_p.E24K	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	24	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ATTTCTACTTCATAATAAAGT	0.383000													66	284					0	0	0.014410	0	0
PLVAP	83483	broad.mit.edu	37	19	17471375	17471375	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:17471375G>A	ENST00000252590.4	-	5	1345	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	428						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCCTCTGGGACTCCAGGA	0.597000													30	35					0	0	0.003271	0	0
SLC34A3	142680	broad.mit.edu	37	9	140130597	140130597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:140130597G>A	ENST00000538474.1	+	13	1753	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	SLC34A3_ENST00000361134.2_Missense_Mutation_p.G510E	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	510					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCCCTGGCAGGGGGCATGGAG	0.716000											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	4					0	0	0.004482	0	0
MTG2	26164	broad.mit.edu	37	20	60768522	60768522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr20:60768522C>T	ENST00000370823.3	+	2	64	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	MTG2_ENST00000436421.2_Nonsense_Mutation_p.Q16*|MTG2_ENST00000536470.1_Intron	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		GACCGTGTTTCAGGGCGTGGG	0.577000													26	72					0	0	0.008361	0	0
GATAD2A	54815	broad.mit.edu	37	19	19606633	19606633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:19606633C>T	ENST00000404158.1	+	8	1113	c.695C>T	c.(694-696)tCg>tTg	p.S232L	GATAD2A_ENST00000252577.5_Missense_Mutation_p.S232L|GATAD2A_ENST00000358713.3_Missense_Mutation_p.S232L|GATAD2A_ENST00000360315.3_Missense_Mutation_p.S232L|GATAD2A_ENST00000429563.2_Missense_Mutation_p.S59L|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000494516.1_Intron			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	232					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CAGGCGTCCTCGAAGCTGGGG	0.647000													13	25					0	0	0.002450	0	0
LIPH	200879	broad.mit.edu	37	3	185245282	185245282	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:185245282G>A	ENST00000296252.4	-	4	759	c.618C>T	c.(616-618)tcC>tcT	p.S206S	LIPH_ENST00000424591.2_Intron	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	206					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CATCAGTGTCGGAATGGATGA	0.527000													63	139					0	0	0.014410	0	0
TUFM	7284	broad.mit.edu	37	16	28855357	28855357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:28855357G>A	ENST00000313511.3	-	8	1126	c.988C>T	c.(988-990)Cga>Tga	p.R330*		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	327						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						TTCAAGCCTCGGACCAGGGCC	0.632000													24	26					0	0	0.004656	0	0
C19orf57	79173	broad.mit.edu	37	19	14000987	14000987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:14000987G>A	ENST00000454313.1	-	6	740	c.682C>T	c.(682-684)Cca>Tca	p.P228S	C19orf57_ENST00000346736.2_Missense_Mutation_p.P228S|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Missense_Mutation_p.P228S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	228					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCGTCACCTGGAACCCTGTCT	0.612000													53	61					0	0	0.014410	0	0
EGR4	1961	broad.mit.edu	37	2	73519181	73519181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:73519181G>A	ENST00000436467.2	-	2	1252	c.865C>T	c.(865-867)Cct>Tct	p.P289S	EGR4_ENST00000545030.1_Missense_Mutation_p.P392S			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	288						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCACTAGGAGGGGTCAGGAGC	0.701000													5	6					0	0	0.001168	0	0
CRABP1	1381	broad.mit.edu	37	15	78633476	78633476	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:78633476G>C	ENST00000299529.6	+	2	267	c.162G>C	c.(160-162)aaG>aaC	p.K54N		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	54					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	TCTACATCAAGACATCCACCA	0.612000													16	1					0	0	0.004007	0	0
RYR3	6263	broad.mit.edu	37	15	33840344	33840344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:33840344G>A	ENST00000389232.4	+	9	824	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	RYR3_ENST00000415757.3_Missense_Mutation_p.E252K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	252	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATATTCTACGAAGCTGGGGG	0.532000													8	1					0	0	0.006214	0	0
BMP3	651	broad.mit.edu	37	4	81967591	81967591	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:81967591G>T	ENST00000282701.2	+	2	1336	c.1016G>T	c.(1015-1017)aGa>aTa	p.R339I		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	339					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AAGAAACAGAGAAAGGGGCCT	0.483000													6	3					0.00116845	0.00154258	0.001168	1	0
B9D2	80776	broad.mit.edu	37	19	41863811	41863811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:41863811C>T	ENST00000243578.3	-	3	424	c.205G>A	c.(205-207)Ggt>Agt	p.G69S	TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000539627.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	69	B9.				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			large_intestine(1)|ovary(1)	2						CCTTGAAGACCTTTGGTGGCG	0.642000													16	27					0	0	0.006122	0	0
VARS2	57176	broad.mit.edu	37	6	30892178	30892178	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:30892178C>T	ENST00000321897.5	+	25	3146	c.2514C>T	c.(2512-2514)ccC>ccT	p.P838P	VARS2_ENST00000541562.1_Silent_p.P868P|VARS2_ENST00000542001.1_Silent_p.P698P|VARS2_ENST00000416670.2_Silent_p.P838P|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	838					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCTGGGGCCCCCTCAGGTCC	0.697000													27	16					0	0	0.009535	0	0
CYTH2	9266	broad.mit.edu	37	19	48977516	48977516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:48977516G>A	ENST00000427476.1	+	7	925	c.625G>A	c.(625-627)Ggc>Agc	p.G209S	CYTH2_ENST00000452733.2_Missense_Mutation_p.G209S	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	209					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGACAAGCCGGGCCTGGAGCG	0.642000													42	51					0	0	0.014410	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8645813	8645813	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:8645813G>A	ENST00000270328.4	-	25	3542	c.3276C>T	c.(3274-3276)ttC>ttT	p.F1092F	ADAMTS10_ENST00000595838.1_Silent_p.F579F|ADAMTS10_ENST00000597188.1_Silent_p.F1092F			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	1092	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACATCTGGCGGAAGTAGGCTC	0.652000											OREG0025220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	12					0	0	0.006214	0	0
FILIP1	27145	broad.mit.edu	37	6	76024143	76024143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:76024143C>T	ENST00000393004.2	-	5	1626	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.E469K|FILIP1_ENST00000370020.1_Missense_Mutation_p.E370K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	469										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACCTCCAATTCATTTAGCAGG	0.363000													31	41					0	0	0.003755	0	0
PHKB	5257	broad.mit.edu	37	16	47723057	47723057	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:47723057G>A	ENST00000455779.1	+	28	2900	c.2715G>A	c.(2713-2715)ctG>ctA	p.L905L	PHKB_ENST00000566044.1_Silent_p.L905L|PHKB_ENST00000323584.5_Silent_p.L912L|PHKB_ENST00000299167.8_Silent_p.L912L			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	912					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AGCTTCTGCTGGATATTCTGC	0.428000													22	2					0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9071595	9071595	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9071595A>G	ENST00000397910.4	-	3	16054	c.15851T>C	c.(15850-15852)cTt>cCt	p.L5284P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5286	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						GTCCAAGGGAAGGGTACTGTG	0.517000													13	13					0	0	0.003163	0	0
TACC2	10579	broad.mit.edu	37	10	123848191	123848191	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:123848191C>T	ENST00000515273.1	+	5	5986	c.5658C>T	c.(5656-5658)gtC>gtT	p.V1886V	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000453444.2_Silent_p.V1886V|TACC2_ENST00000369005.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Intron			O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1859						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGAGTAGTCCTTATACAGC	0.433000													3	3					0	0	0.004672	0	0
HEXB	3074	broad.mit.edu	37	5	74014703	74014703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:74014703C>T	ENST00000511181.1	+	11	1561	c.649C>T	c.(649-651)Cct>Tct	p.P217S	HEXB_ENST00000261416.7_Missense_Mutation_p.P442S|HEXB_ENST00000513539.1_Intron			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	442					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		ATCTGGCTTCCCTGTAATCCT	0.428000													21	33					0	0	0.008871	0	0
CCDC170	80129	broad.mit.edu	37	6	151914323	151914323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:151914323G>A	ENST00000367290.5	+	8	1464	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	CCDC170_ENST00000239374.7_Missense_Mutation_p.D459N			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	459																	CATGCGGCTGGACGTGGTTTT	0.453000													17	23					0	0	0.006122	0	0
PRB3	5544	broad.mit.edu	37	12	11420926	11420926	+	RNA	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:11420926C>T	ENST00000381842.3	-	0	294				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACTGGTTTCCTCCTTGTGG	0.627000													53	148					0	0	0.014410	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110450985	110450985	+	Silent	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:110450985A>G	ENST00000261739.4	+	3	451	c.285A>G	c.(283-285)caA>caG	p.Q95Q	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	95										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CAGTTCTCCAACATCGAGACT	0.443000													19	13					0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9068660	9068660	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9068660G>A	ENST00000397910.4	-	3	18989	c.18786C>T	c.(18784-18786)atC>atT	p.I6262I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6264	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						CCATGTCTGTGATCTTCGCCA	0.478000													33	37					0	0	0.010818	0	0
SLIT2	9353	broad.mit.edu	37	4	20597400	20597400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:20597400G>A	ENST00000504154.1	+	31	3515	c.3263G>A	c.(3262-3264)gGa>gAa	p.G1088E	SLIT2_ENST00000503823.1_Missense_Mutation_p.G1080E|SLIT2_ENST00000273739.5_Missense_Mutation_p.G1101E|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1084E	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1088	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGTAAAAACGGAGCCCACTGC	0.463000													29	55					0	0	0.013726	0	0
SNUPN	10073	broad.mit.edu	37	15	75890738	75890738	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:75890738G>A	ENST00000371091.5	-	10	1622	c.1170C>T	c.(1168-1170)tcC>tcT	p.S390S	CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000564644.1_Silent_p.S348S|SNUPN_ENST00000564675.1_Silent_p.S348S|SNUPN_ENST00000567134.1_Silent_p.S348S|SNUPN_ENST00000308588.5_Silent_p.S348S			O95149	SPN1_HUMAN	snurportin 1	348					ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CTGGGCTATGGGAAGAACCCT	0.517000													35	46					0	0	0.008740	0	0
MUC16	94025	broad.mit.edu	37	19	9067427	9067427	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:9067427C>T	ENST00000397910.4	-	3	20222	c.20019G>A	c.(20017-20019)gaG>gaA	p.E6673E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6675	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						CAGCACTTTTCTCTGTGGATA	0.507000													40	38					0	0	0.006230	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856739	62856739	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:62856739C>T	ENST00000584306.1	-	11	4055	c.3525G>A	c.(3523-3525)caG>caA	p.Q1175Q	LRRC37A3_ENST00000334962.5_Silent_p.Q152Q|LRRC37A3_ENST00000319651.5_Silent_p.Q1175Q|LRRC37A3_ENST00000339474.5_Silent_p.Q293Q|LRRC37A3_ENST00000400877.3_Silent_p.Q213Q	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1175						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGTGCCTTTTCTGGATGCTCC	0.512000													58	74					0	0	0.014410	0	0
CSMD3	114788	broad.mit.edu	37	8	113678612	113678612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:113678612C>T	ENST00000297405.5	-	17	2954	c.2710G>A	c.(2710-2712)Gga>Aga	p.G904R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G904R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G864R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G800R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	904	CUB 5.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAATCACTCCACTGGGAGCT	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	4					0	0	0.000602	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934906	9934906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:9934906C>T	ENST00000396573.2	-	7	1693	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	GRIN2A_ENST00000535259.1_Missense_Mutation_p.D305N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D462N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D462N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D462N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D462N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	462					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCAGAATATCAATGCAGAAC	0.428000													22	14					0	0	0.003954	0	0
OR52J3	119679	broad.mit.edu	37	11	5068078	5068078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:5068078C>T	ENST00000380370.1	+	1	323	c.323C>T	c.(322-324)gCc>gTc	p.A108V		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGATCCATGCCTTCACTGGC	0.498000													9	6					0	0	0.010729	0	0
PLCG2	5336	broad.mit.edu	37	16	81971413	81971413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:81971413G>A	ENST00000359376.3	+	28	3317	c.3103G>A	c.(3103-3105)Ggc>Agc	p.G1035S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1035	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGGGCGCACGGGCTACGTTCT	0.522000													21	0					0	0	0.002780	0	0
LRP1	4035	broad.mit.edu	37	12	57571294	57571294	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:57571294C>T	ENST00000243077.3	+	26	4747	c.4281C>T	c.(4279-4281)caC>caT	p.H1427H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1427					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCACCGTGCACCGGGAGACCG	0.667000													30	14					0	0	0.005524	0	0
KIF1C	10749	broad.mit.edu	37	17	4927150	4927150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:4927150C>T	ENST00000320785.5	+	23	3373	c.3016C>T	c.(3016-3018)Cct>Tct	p.P1006S		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	1006	Pro-rich.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|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						GCTCCAACCCCCTGAGGAGGT	0.687000													7	28					0	0	0.004482	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1720746	1720746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:1720746C>T	ENST00000397412.3	+	20	3680	c.3581C>T	c.(3580-3582)cCc>cTc	p.P1194L	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.P1191L|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.P569L|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.P1194L			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1194	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						TTGCTTGGCCCCAGCTTGTTG	0.572000													54	47					0	0	0.014410	0	0
KIAA1715	80856	broad.mit.edu	37	2	176856966	176856966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:176856966G>A	ENST00000272748.4	-	4	497	c.250C>T	c.(250-252)Cca>Tca	p.P84S	KIAA1715_ENST00000535310.1_Missense_Mutation_p.P9S|KIAA1715_ENST00000544803.1_Missense_Mutation_p.P84S	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	84						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TACATCAATGGAAAAGCAAAA	0.303000													5	19					0	0	0.001168	0	0
TAF1L	138474	broad.mit.edu	37	9	32632604	32632604	+	Missense_Mutation	SNP	T	T	A	rs147191242		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:32632604T>A	ENST00000242310.4	-	1	3063	c.2974A>T	c.(2974-2976)Aca>Tca	p.T992S		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	992					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCTGCTGTGTTGGTTTATTT	0.498000													74	39					0	0	0.014410	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818734	159818734	+	RNA	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:159818734G>A	ENST00000497452.1	-	0	517																											AGGAGGGAACGAAGTCACCGA	0.507000													25	43					0	0	0.003954	0	0
NPC1	4864	broad.mit.edu	37	18	21124964	21124964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:21124964G>A	ENST00000269228.5	-	12	2461	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	NPC1_ENST00000412552.2_Missense_Mutation_p.S318F|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	636	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAAGGCTAGGGAAATATATAG	0.458000													28	11					0	0	0.012213	0	0
SLC28A3	64078	broad.mit.edu	37	9	86893221	86893221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:86893221C>T	ENST00000376238.4	-	18	2037	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E	SLC28A3_ENST00000537648.1_Missense_Mutation_p.G594E|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	663					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACTGTGGTTTCCTCCTGGGAT	0.463000													23	13					0	0	0.006320	0	0
ARSH	347527	broad.mit.edu	37	X	2931089	2931089	+	Splice_Site	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:2931089G>A	ENST00000381130.2	+	3	216	c.214_splice	c.e3-1	p.G72_splice		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	72						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGAATTTAGGGATGGTGTCTG	0.498000													67	6					0	0	0.014410	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411162	32411162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:32411162C>T	ENST00000395388.2	+	3	638	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.P152S	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	177	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CCACTATCTCCCCTTCCTGCC	0.542000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				24	28					0	0	0.002780	0	0
JPH4	84502	broad.mit.edu	37	14	24040606	24040606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:24040606C>T	ENST00000397118.3	-	6	2236	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E	JPH4_ENST00000356300.4_Missense_Mutation_p.G445E|JPH4_ENST00000544177.1_Missense_Mutation_p.G110E	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	445					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTCATATACCCCAGGGCTGTC	0.647000													19	18					0	0	0.008871	0	0
GYS2	2998	broad.mit.edu	37	12	21716177	21716177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:21716177C>T	ENST00000261195.2	-	6	1180	c.926G>A	c.(925-927)cGa>cAa	p.R309Q		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	309					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAAATGACCTCGAACAAAATC	0.323000													15	41					0	0	0.004990	0	0
DIAPH3	81624	broad.mit.edu	37	13	60348867	60348867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr13:60348867G>A	ENST00000400324.4	-	26	3474	c.3254C>T	c.(3253-3255)cCa>cTa	p.P1085L	DIAPH3_ENST00000400319.1_Missense_Mutation_p.P1015L|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P1039L|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P1085L|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P1085L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P1074L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1085	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTCACCTTTTGGCATCGGTGT	0.453000													19	22					0	0	0.007413	0	0
AP3B2	8120	broad.mit.edu	37	15	83328679	83328679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:83328679G>A	ENST00000261722.3	-	25	3223	c.3016C>T	c.(3016-3018)Cgg>Tgg	p.R1006W	AP3B2_ENST00000535359.1_Missense_Mutation_p.R1025W|AP3B2_ENST00000535348.1_Missense_Mutation_p.R974W|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1006					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGGTCACTCCGACAGGTGTCT	0.547000													66	65					0	0	0.014410	0	0
SLC22A2	6582	broad.mit.edu	37	6	160670397	160670397	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:160670397C>T	ENST00000366952.1	-	6	2111	c.630G>A	c.(628-630)cgG>cgA	p.R210R	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Silent_p.R231R			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	231					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TCCGATATCTCCGCCCAACAA	0.458000													27	49					0	0	0.007291	0	0
SYT13	57586	broad.mit.edu	37	11	45274136	45274136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:45274136G>A	ENST00000020926.3	-	4	793	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	228	C2 1.					transport vesicle		p.P228T(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCGCCAGGGGGAGCACCAGG	0.682000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	23					0	0	0.007835	0	0
SELE	6401	broad.mit.edu	37	1	169696637	169696637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:169696637C>T	ENST00000333360.7	-	10	1637	c.1498G>A	c.(1498-1500)Gga>Aga	p.G500R	SELE_ENST00000367780.4_Missense_Mutation_p.G375R|SELE_ENST00000367776.1_Missense_Mutation_p.G437R|SELE_ENST00000367775.1_Missense_Mutation_p.G375R|SELE_ENST00000367781.4_Missense_Mutation_p.G437R|SELE_ENST00000367779.4_Missense_Mutation_p.G374R|SELE_ENST00000367777.1_Missense_Mutation_p.G437R|SELE_ENST00000367782.4_Missense_Mutation_p.G437R|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.G374R	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	500	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTGATCTTTCCCGGAACTGCC	0.488000													38	20					0	0	0.006999	0	0
ZNF789	285989	broad.mit.edu	37	7	99084288	99084288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:99084288G>A	ENST00000331410.5	+	5	725	c.455G>A	c.(454-456)aGg>aAg	p.R152K	ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAATACAGCAGGGGCTTCCTT	0.418000													22	46					0	0	0.002780	0	0
PALLD	23022	broad.mit.edu	37	4	169589390	169589390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:169589390C>T	ENST00000261509.6	+	3	1169	c.958C>T	c.(958-960)Cac>Tac	p.H320Y	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.H320Y|PALLD_ENST00000333488.4_Missense_Mutation_p.H197Y	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	320	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TATTCAAATCCACTGTGAGGG	0.512000									Pancreatic Cancer, Familial Clustering of				28	78					0	0	0.008361	0	0
THSD7B	80731	broad.mit.edu	37	2	137814319	137814319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:137814319G>A	ENST00000409968.1	+	3	647	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	THSD7B_ENST00000543459.1_Missense_Mutation_p.E16K|THSD7B_ENST00000413152.2_Missense_Mutation_p.E126K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E157K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTGCAAATGAAATATGCGA	0.522000													48	28					0	0	0.013114	0	0
EPHA2	1969	broad.mit.edu	37	1	16475015	16475015	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr1:16475015G>A	ENST00000358432.5	-	3	835	c.681C>T	c.(679-681)gcC>gcT	p.A227A	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	227	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CACAGGTGCCGGCCACAGTGG	0.657000													28	13					0	0	0.012213	0	0
AGTR2	186	broad.mit.edu	37	X	115304184	115304184	+	Silent	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:115304184C>T	ENST00000371906.4	+	3	841	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	217					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGAAAAATATCCTTGGTTTTA	0.373000													11	1					0	0	0.008291	0	0
FZR1	51343	broad.mit.edu	37	19	3527673	3527673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr19:3527673C>T	ENST00000441788.2	+	7	751	c.515C>T	c.(514-516)tCc>tTc	p.S172F	FZR1_ENST00000395095.3_Missense_Mutation_p.S172F|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	172					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAAGATCTCCAAGATCCCC	0.632000													14	18					0	0	0.003163	0	0
OR5P2	120065	broad.mit.edu	37	11	7818383	7818383	+	Missense_Mutation	SNP	G	G	A	rs138967151	by1000genomes	TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:7818383G>A	ENST00000329434.2	-	1	137	c.107C>T	c.(106-108)tCt>tTt	p.S36F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	36					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)		GAGATTACCAGATAGGATGAT	0.438000													8	15					0	0	0.004482	0	0
TNIK	23043	broad.mit.edu	37	3	170908539	170908539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr3:170908539C>T	ENST00000436636.2	-	6	799	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	TNIK_ENST00000538048.1_Missense_Mutation_p.R152Q|TNIK_ENST00000357327.5_Missense_Mutation_p.R152Q|TNIK_ENST00000475336.1_Missense_Mutation_p.R152Q|TNIK_ENST00000284483.8_Missense_Mutation_p.R152Q|TNIK_ENST00000460047.1_Missense_Mutation_p.R152Q|TNIK_ENST00000488470.1_Missense_Mutation_p.R152Q|TNIK_ENST00000369326.5_Missense_Mutation_p.R152Q|TNIK_ENST00000341852.6_Missense_Mutation_p.R152Q|TNIK_ENST00000470834.1_Missense_Mutation_p.R152Q	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	152	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTAATATCTCGATGAATCAC	0.413000													7	2					0	0	0.008291	0	0
EGFR	1956	broad.mit.edu	37	7	55242439	55242439	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr7:55242439A>G	ENST00000275493.2	+	19	2386	c.2209A>G	c.(2209-2211)Aaa>Gaa	p.K737E	EGFR_ENST00000455089.1_Missense_Mutation_p.K692E|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.K684E	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	737	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGAAGGTGAGAAAGTTAAAAT	0.483000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			36	1					0	0	0.006999	0	0
LHCGR	3973	broad.mit.edu	37	2	48915511	48915511	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:48915511G>A	ENST00000294954.7	-	11	1446	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Silent_p.D413D|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Silent_p.D448D	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	475					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GCAGCTTTTGGTCCAGGTGAA	0.448000													15	26					0	0	0.002450	0	0
RB1CC1	9821	broad.mit.edu	37	8	53586681	53586681	+	Silent	SNP	G	G	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:53586681G>A	ENST00000025008.5	-	7	1249	c.726C>T	c.(724-726)ctC>ctT	p.L242L	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.L242L|RB1CC1_ENST00000435644.2_Silent_p.L242L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	242					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TATCAGGAGAGAGCACCAGTT	0.433000													66	49					0	0	0.014410	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18650614	18650614	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:18650614T>G	ENST00000433979.1	+	21	2941	c.2825T>G	c.(2824-2826)aTt>aGt	p.I942S	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.I942S|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.I983S	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	942	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGGACAATATTTGGCTGCAG	0.408000													15	24					0	0	0.003163	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47017254	47017254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:47017254C>T	ENST00000584895.1	-	3	139	c.125G>A	c.(124-126)cGa>cAa	p.R42Q	RPL17_ENST00000581373.1_Missense_Mutation_p.R4Q|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000580261.1_Missense_Mutation_p.R42Q|RPL17_ENST00000418495.1_Missense_Mutation_p.R42Q|RPL17_ENST00000580210.1_Missense_Mutation_p.R32Q|RPL17_ENST00000579248.1_Missense_Mutation_p.R42Q|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.R4Q|RPL17_ENST00000579408.1_Missense_Mutation_p.R42Q|MIR1539_ENST00000581232.1_RNA	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1																					CGTGGCTTTTCGTATATGCAT	0.398000													40	83					0	0	0.008740	0	0
GUCY2D	3000	broad.mit.edu	37	17	7907263	7907263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:7907263C>T	ENST00000254854.4	+	3	965	c.815C>T	c.(814-816)tCc>tTc	p.S272F		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	272					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				ACCGATGGCTCCCTGGTCTTC	0.672000													52	25					0	0	0.014410	0	0
NCKAP1	10787	broad.mit.edu	37	2	183821201	183821213	+	Frame_Shift_Del	DEL	TATTTCCAGATGA	TATTTCCAGATGA	-	rs112295501		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr2:183821201_183821213delTATTTCCAGATGA	ENST00000360982.2	-	21	2906_2918	c.2148_2160delTCATCTGGAAATA	c.(2146-2160)tcfs	p.SHLEI716fs	NCKAP1_ENST00000361354.3_Frame_Shift_Del_p.SHLEI710fs	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	710					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGTAAAGCGTATTTCCAGATGAGAAGTCAAAT	0.329													8	74	---	---	---	---					
HTT	3064	broad.mit.edu	37	4	3230640	3230640	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:3230640delT	ENST00000355072.5	+	59	8158	c.8013delT	c.(8011-8013)tgfs	p.C2671fs	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2671					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCCACTCCTGTTCGCAGTTTT	0.527													17	39	---	---	---	---					
GRIA2	2891	broad.mit.edu	37	4	158281038	158281052	+	Splice_Site	DEL	TTTCCTGCAGAGATC	TTTCCTGCAGAGATC	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr4:158281038_158281052delTTTCCTGCAGAGATC	ENST00000296526.7	+	13	2368_2373	c.2043_splice	c.e13-1	p.R681_splice	GRIA2_ENST00000507898.1_Splice_Site_p.R634_splice|GRIA2_ENST00000264426.9_Splice_Site_p.R681_splice|GRIA2_ENST00000449365.1_Splice_Site_p.R634_splice|GRIA2_ENST00000393815.2_Splice_Site_p.R634_splice	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	681					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GCCCCTTACTTTTCCTGCAGAGATCTAAAATTGCA	0.423													8	10	---	---	---	---					
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr5:16694605_16694606insC	ENST00000513610.1	-	27	4128_4129	c.3674_3675insG	c.(3673-3675)gtcfs	p.V1225fs	MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564													51	83	---	---	---	---					
TDRD6	221400	broad.mit.edu	37	6	46657352	46657352	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr6:46657352delT	ENST00000544460.1	+	1	1741	c.1487delT	c.(1486-1488)gtfs	p.V496fs	TDRD6_ENST00000316081.6_Frame_Shift_Del_p.V496fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	496					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTAGAGTTTGTTAAAAATCCT	0.418													48	24	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110393720	110393729	+	Frame_Shift_Del	DEL	AACTCAAATT	AACTCAAATT	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr8:110393720_110393729delAACTCAAATT	ENST00000378402.5	+	3	389_398	c.285_294delAACTCAAATT	c.(283-294)tcfs	p.STQI95fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	95	IPT/TIG 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAGTCATTCAACTCAAATTACATGCTATA	0.276										HNSCC(38;0.096)			2	4	---	---	---	---					
SNHG7	84973	broad.mit.edu	37	9	139621229	139621230	+	RNA	INS	-	-	A			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr9:139621229_139621230insA	ENST00000414282.1	-	0	345				SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000391185.1_RNA|SNHG7_ENST00000447221.1_RNA																							TTCAAACGTTCACGGGGCAGAA	0.545											OREG0019621	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	7	---	---	---	---					
ENKUR	219670	broad.mit.edu	37	10	25284707	25284707	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:25284707delA	ENST00000331161.4	-	3	534	c.315delT	c.(313-315)ttfs	p.F105fs	ENKUR_ENST00000376363.1_Frame_Shift_Del_p.F105fs	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	105						cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTGTATTTATAAAATTTTTTC	0.373													57	46	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75553742	75553742	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr10:75553742delC	ENST00000604729.1	+	12	2862	c.2565delC	c.(2563-2565)ttfs	p.F855fs	ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.F855fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Del_p.F855fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.F855fs|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.F822fs					zinc finger, SWIM-type containing 8																		ACCTGGCCTTCCGAGTTGGCA	0.567													6	8	---	---	---	---					
SPI1	6688	broad.mit.edu	37	11	47380542	47380542	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:47380542delG	ENST00000378538.3	-	4	568	c.346delC	c.(346-348)ggfs	p.R116fs	SPI1_ENST00000533968.1_Frame_Shift_Del_p.R116fs|SPI1_ENST00000533030.1_Intron|SPI1_ENST00000227163.4_Frame_Shift_Del_p.R117fs	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	116					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		AGGCACATCCGGGGCAGGTAG	0.667													7	25	---	---	---	---					
OR5M11	219487	broad.mit.edu	37	11	56309917	56309917	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr11:56309917delT	ENST00000528616.2	-	1	840	c.817delA	c.(817-819)tafs	p.I273fs		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AAGACAGCTATTATTTTAGAT	0.408													12	23	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	12	---	---	---	---					
OR6C68	403284	broad.mit.edu	37	12	55887068	55887069	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:55887068_55887069insT	ENST00000379662.1	+	1	922_923	c.922_923insT	c.(922-924)caafs	p.Q308fs	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000548615.1_Frame_Shift_Ins_p.Q303fs			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TCATGACTCACTCAAAAAAATT	0.297													15	11	---	---	---	---					
UBC	7316	broad.mit.edu	37	12	125397794	125397794	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr12:125397794delA	ENST00000536769.1	-	1	2100	c.524delT	c.(523-525)acfs	p.I175fs	UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Frame_Shift_Del_p.I175fs			P0CG48	UBC_HUMAN	ubiquitin C	175	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GACATTCTCGATGGTGTCACT	0.532													47	51	---	---	---	---					
SNX6	58533	broad.mit.edu	37	14	35036975	35036976	+	Splice_Site	DEL	GT	GT	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr14:35036975_35036976delGT	ENST00000396526.3	-	12	1231_1232	c.733_splice	c.e12-1	p.EL245_splice	SNX6_ENST00000355110.5_Splice_Site_p.EL249_splice|SNX6_ENST00000362031.4_Splice_Site_p.EL373_splice|SNX6_ENST00000396534.3_Splice_Site_p.EL245_splice			Q9UNH7	SNX6_HUMAN	sorting nexin 6	361					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		AAATCTATAAGTTCTGTGAAAA	0.312													15	22	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25462507	25462507	+	RNA	DEL	C	C	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr15:25462507delC	ENST00000424208.1	+	0	2869					NR_003305.1																						CATCCGGGTTCCACTGGATGT	0.617													4	4	---	---	---	---					
ANKRD11	29123	broad.mit.edu	37	16	89347832	89347832	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr16:89347832delA	ENST00000301030.4	-	9	5578	c.5118delT	c.(5116-5118)ccfs	p.P1706fs	ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.P1706fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1706						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCACCGACGTAGGGGTGGGCA	0.667													57	10	---	---	---	---					
CCDC144NL-AS1	440416	broad.mit.edu	37	17	20897621	20897621	+	RNA	DEL	C	C	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:20897621delC	ENST00000581958.1	+	0	794				RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000423473.2_RNA																							CGTGGTGGATCAGCTGCTGGA	0.652													2	4	---	---	---	---					
TMIGD1	388364	broad.mit.edu	37	17	28645885	28645894	+	Frame_Shift_Del	DEL	AACACATGCA	AACACATGCA	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr17:28645885_28645894delAACACATGCA	ENST00000328886.4	-	5	750_759	c.678_687delTGCATGTGTT	c.(676-687)gcfs	p.AACV226fs	TMIGD1_ENST00000538566.2_Intron	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	226						integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						GAAAGATCACAACACATGCAGCAATAATGG	0.362													9	24	---	---	---	---					
DSC3	1825	broad.mit.edu	37	18	28574274	28574274	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr18:28574274delT	ENST00000360428.4	-	16	2638	c.2558delA	c.(2557-2559)acfs	p.N853fs	DSC3_ENST00000434452.1_3'UTR	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	853					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCCCTCATAGTTATAAGTGAG	0.373													28	17	---	---	---	---					
MIR3648-1	100500862	broad.mit.edu	37	21	9825836	9825837	+	RNA	INS	-	-	CTG	rs2781492		TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:9825836_9825837insCTG	ENST00000581792.1	+	0	5_6					NR_037421.1																						accggccgcgactgcggcggcg	0.847													2	4	---	---	---	---					
SIM2	6493	broad.mit.edu	37	21	38072104	38072104	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chr21:38072104delT	ENST00000290399.6	+	1	671	c.58delT	c.(58-60)ttfs	p.F20fs	SIM2_ENST00000460783.1_3'UTR|SIM2_ENST00000430056.3_Frame_Shift_Del_p.F20fs|AP000697.6_ENST00000430607.1_RNA	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	20	Helix-loop-helix motif.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						AAATGGCGAGTTTTACGAGCT	0.602													7	9	---	---	---	---					
TLR7	51284	broad.mit.edu	37	X	12904964	12904964	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A20C-06A-11D-A196-08	TCGA-EE-A20C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d90a720c-fbed-442b-876a-e3842d862539	154a343f-deb6-47ad-8d6b-8116d9d4866d	g.chrX:12904964delC	ENST00000380659.3	+	3	1476	c.1337delC	c.(1336-1338)tafs	p.S446fs		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	446					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GGCTTCTGCTCAAATGCCAGA	0.353													47	2	---	---	---	---					
