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
REC8	9985	broad.mit.edu	37	14	24649108	24649108	+	Silent	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:24649108C>A	ENST00000311457.3	+	19	2150	c.1551C>A	c.(1549-1551)ctC>ctA	p.L517L	REC8_ENST00000559919.1_Silent_p.L517L|REC8_ENST00000559939.1_3'UTR			O95072	REC8_HUMAN	REC8 meiotic recombination protein	518					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TCTACCTGCTCCTGGGTGAGT	0.637000													20	28					2.4624e-09	5.1318e-09	0.001216	1	0
IL36B	27177	broad.mit.edu	37	2	113785660	113785660	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:113785660C>T	ENST00000327407.2	-	5	401	c.294G>A	c.(292-294)aaG>aaA	p.K98K	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	0					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TCTGTGCTTTCTTCTCCACAT	0.463000													17	15					0	0	0.000958	0	0
KEL	3792	broad.mit.edu	37	7	142651377	142651377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142651377G>A	ENST00000355265.2	-	8	1292	c.818C>T	c.(817-819)tCc>tTc	p.S273F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	273					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GATTGACAAGGAAGAGTGTTC	0.542000													24	48					0	0	0.002780	0	0
BCL9	607	broad.mit.edu	37	1	147091084	147091084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:147091084C>T	ENST00000234739.3	+	8	1863	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	375	CTNNB1-binding.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.P375S(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CATGCTTTTTCCTGATGAGAA	0.537000			T	"""IGH@, IGL@"""	B-ALL								44	105					0	0	0.003610	0	0
AHDC1	27245	broad.mit.edu	37	1	27876003	27876003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:27876003G>A	ENST00000374011.2	-	6	3592	c.2624C>T	c.(2623-2625)cCc>cTc	p.P875L	AHDC1_ENST00000247087.5_Missense_Mutation_p.P875L|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	875							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGCACTGGTGGGTGGCCCTGC	0.687000													22	16					0	0	0.002299	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41744140	41744140	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:41744140C>T	ENST00000352645.4	+	15	1992	c.1735C>T	c.(1735-1737)Ctg>Ttg	p.L579L	ZC3H7B_ENST00000351589.4_Silent_p.L579L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	595					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						CTGCTCCAACCTGGCTGCCAA	0.602000													37	80					0	0	0.001287	0	0
LPHN3	23284	broad.mit.edu	37	4	62598791	62598791	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:62598791G>A	ENST00000512091.1	+	7	1461	c.714G>A	c.(712-714)aaG>aaA	p.K238K	LPHN3_ENST00000508946.1_Silent_p.K238K|LPHN3_ENST00000514157.1_Silent_p.K238K|LPHN3_ENST00000511324.1_Silent_p.K306K|LPHN3_ENST00000506746.1_Silent_p.K306K|LPHN3_ENST00000507164.1_Silent_p.K306K|LPHN3_ENST00000509896.1_Silent_p.K306K|LPHN3_ENST00000514996.1_Silent_p.K238K|LPHN3_ENST00000507625.1_Silent_p.K306K|LPHN3_ENST00000514591.1_Silent_p.K238K|LPHN3_ENST00000504896.1_Silent_p.K238K|LPHN3_ENST00000545650.1_Silent_p.K238K|LPHN3_ENST00000508693.1_Silent_p.K306K|LPHN3_ENST00000506700.1_Silent_p.K238K|LPHN3_ENST00000506720.1_Silent_p.K306K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	238	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTAGGATAAAGAGTGGAGAGG	0.463000													6	5					0	0	0.001168	0	0
LHCGR	3973	broad.mit.edu	37	2	48936151	48936151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:48936151C>T	ENST00000294954.7	-	8	637	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.E206K|LHCGR_ENST00000403273.1_Missense_Mutation_p.E206K|LHCGR_ENST00000401907.1_Missense_Mutation_p.E206K|LHCGR_ENST00000344775.3_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													13	58					0	0	0.002450	0	0
FBXO36	130888	broad.mit.edu	37	2	230875580	230875580	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:230875580C>T	ENST00000373652.3	+	5	875	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	FBXO36_ENST00000409992.1_Silent_p.L163L|FBXO36_ENST00000283946.3_Silent_p.L183L			Q8NEA4	FBX36_HUMAN	F-box protein 36	183										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATATGGAAACCTGAGAGAAAA	0.522000													4	11					0	0	0.000248	0	0
CDH4	1002	broad.mit.edu	37	20	60498741	60498741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:60498741G>A	ENST00000360469.5	+	10	1695	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R462Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	536	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GACCCTGACCGGTTCATGCAG	0.612000													14	28					0	0	0.006122	0	0
EMB	133418	broad.mit.edu	37	5	49706745	49706745	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:49706745C>T	ENST00000303221.5	-	4	653	c.438G>A	c.(436-438)gaG>gaA	p.E146E	EMB_ENST00000508934.1_Silent_p.E92E|EMB_ENST00000514111.1_Silent_p.E96E|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	146	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GTTCCTTTTCCTCTCGAAAGA	0.303000													5	24					0	0	0.001984	0	0
PTK2B	2185	broad.mit.edu	37	8	27255255	27255255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:27255255C>T	ENST00000397501.1	+	7	962	c.154C>T	c.(154-156)Cct>Tct	p.P52S	PTK2B_ENST00000346049.5_Missense_Mutation_p.P52S|PTK2B_ENST00000517339.1_Missense_Mutation_p.P52S|PTK2B_ENST00000544172.1_Missense_Mutation_p.P52S|PTK2B_ENST00000420218.2_Missense_Mutation_p.P52S|PTK2B_ENST00000338238.4_Missense_Mutation_p.P52S	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	52	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CAGCTTCAATCCTGGGAAAAA	0.517000													17	54					0	0	0.004007	0	0
MYOM3	127294	broad.mit.edu	37	1	24383922	24383922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:24383922C>T	ENST00000330966.7	-	37	4417	c.4255G>A	c.(4255-4257)Gag>Aag	p.E1419K	MYOM3_ENST00000338909.5_Missense_Mutation_p.E309K|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1416K|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1416	Ig-like C2-type 4.									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)		TGGCCCGTCTCGGAGCCATAC	0.567000													16	20					0	0	0.006122	0	0
AFTPH	54812	broad.mit.edu	37	2	64819118	64819118	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:64819118C>T	ENST00000422803.1	+	10	3077	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	AFTPH_ENST00000409183.1_Silent_p.F552F|AFTPH_ENST00000409933.1_Silent_p.F920F|AFTPH_ENST00000238855.7_Silent_p.F920F|AFTPH_ENST00000238856.4_Silent_p.F893F			Q6ULP2	AFTIN_HUMAN	aftiphilin	921					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGTTGATGTTCCCAGCCACGT	0.438000													27	38					0	0	0.005443	0	0
NCAN	1463	broad.mit.edu	37	19	19334892	19334892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:19334892G>A	ENST00000252575.5	+	4	581	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	180	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TGAGGCCCAGGAGGCCTGCCG	0.592000													16	55					0	0	0.004990	0	0
PZP	5858	broad.mit.edu	37	12	9305726	9305726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:9305726G>A	ENST00000261336.2	-	30	4016	c.3988C>T	c.(3988-3990)Ctt>Ttt	p.L1330F	PZP_ENST00000381997.2_Missense_Mutation_p.L1116F	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						CCTACCTGAAGATACACACAT	0.438000													39	35					0	0	0.001485	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433295	140433295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140433295G>A	ENST00000306549.3	+	1	2317	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		747					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)			CAAGGCAATGGATCCTTATCT	0.393000													9	76					0	0	0.000443	0	0
KATNAL1	84056	broad.mit.edu	37	13	30805518	30805518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:30805518G>A	ENST00000380615.3	-	7	985	c.818C>T	c.(817-819)tCg>tTg	p.S273L	KATNAL1_ENST00000380617.3_Missense_Mutation_p.S273L	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	273						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TGTAGAAGACGAAACGTTGAA	0.408000													5	35					0	0	0.000602	0	0
RPS4Y2	140032	broad.mit.edu	37	Y	22921930	22921930	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrY:22921930C>T	ENST00000288666.5	+	3	258	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	86	S4 RNA-binding.				translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						CTGCTGGATTCATAGGTAAGG	0.413000													40	25					0	0	0.002852	0	0
CFB	629	broad.mit.edu	37	6	31918076	31918076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:31918076G>A	ENST00000556679.1	+	24	3081	c.3026G>A	c.(3025-3027)gGa>gAa	p.G1009E	CFB_ENST00000477310.1_Missense_Mutation_p.G858E|CFB_ENST00000425368.2_Missense_Mutation_p.G507E|CFB_ENST00000456570.1_Missense_Mutation_p.G1009E			P00751	CFAB_HUMAN	complement factor B	507					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						CCTTCAAAGGGACACGAGAGC	0.493000													63	264					0	0	0.003610	0	0
FMO1	2326	broad.mit.edu	37	1	171254618	171254618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:171254618G>A	ENST00000354841.4	+	8	1665	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	FMO1_ENST00000367750.3_Missense_Mutation_p.E512K|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.E449K			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	512					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCTCCCTTTGAAAGTTTTCT	0.408000													15	40					0	0	0.000958	0	0
WDR48	57599	broad.mit.edu	37	3	39133152	39133152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:39133152C>T	ENST00000302313.5	+	17	1733	c.1705C>T	c.(1705-1707)Ctc>Ttc	p.L569F	WDR48_ENST00000418020.1_Missense_Mutation_p.L11F|WDR48_ENST00000396258.3_Missense_Mutation_p.L487F|WDR48_ENST00000544962.1_Missense_Mutation_p.L294F|WDR48_ENST00000466405.1_3'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	569					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCCTTTCTACCTCCAACCTCA	0.279000													9	42					0	0	0.000443	0	0
PAX8	7849	broad.mit.edu	37	2	113993096	113993096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:113993096G>A	ENST00000429538.3	-	9	1156	c.962C>T	c.(961-963)cCt>cTt	p.P321L	AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263335.7_Intron|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000263334.5_Intron|PAX8_ENST00000348715.5_Intron	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	321	Ser-rich.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TAAAGAGGAAGGGGTGGAGCT	0.597000			T	PPARG	follicular thyroid		Thyroid dysgenesis						5	26					0	0	0.001168	0	0
CD47	961	broad.mit.edu	37	3	107777218	107777218	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:107777218G>A	ENST00000355354.7	-	6	866	c.750C>T	c.(748-750)atC>atT	p.I250I	CD47_ENST00000361309.5_Silent_p.I250I	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	CD47 molecule	250					blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			CCACAGCGAGGATATAGGCTA	0.428000													4	3					0	0	0.000248	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091163	143091163	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:143091163G>A	ENST00000367603.2	-	5	5455	c.4713C>T	c.(4711-4713)atC>atT	p.I1571I	HIVEP2_ENST00000367604.1_Silent_p.I1571I|HIVEP2_ENST00000012134.2_Silent_p.I1571I	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1571	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I1571I(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCGTCTCATCGATATCTAATT	0.547000													31	102					0	0	0.002836	0	0
TTN	7273	broad.mit.edu	37	2	179440898	179440898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179440898C>T	ENST00000589042.1	-	326	70185	c.69961G>A	c.(69961-69963)Gat>Aat	p.D23321N	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D21680N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D14256N|TTN_ENST00000359218.5_Missense_Mutation_p.D14381N|TTN_ENST00000342992.6_Missense_Mutation_p.D20753N|TTN_ENST00000342175.6_Missense_Mutation_p.D14448N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21680	Fibronectin type-III 69.						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)			ACACCTGCATCGTTGATGGCA	0.458000													6	29					0	0	0.001168	0	0
SPATA5	166378	broad.mit.edu	37	4	124235190	124235190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:124235190C>T	ENST00000274008.3	+	16	2722	c.2653C>T	c.(2653-2655)Caa>Taa	p.Q885*		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	885					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TGAAGATTATCAAGAGAAGAG	0.348000													24	30					0	0	0.004656	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357110	38357110	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:38357110G>A	ENST00000273173.4	+	8	1531	c.1440G>A	c.(1438-1440)acG>acA	p.T480T	SLC22A14_ENST00000448498.1_Silent_p.T480T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	480						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)		AATCCATGACGATCTTGGTGC	0.592000													51	74					0	0	0.003610	0	0
TSGA10	80705	broad.mit.edu	37	2	99685455	99685455	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:99685455A>G	ENST00000393483.3	-	15	1958	c.1114T>C	c.(1114-1116)Tcc>Ccc	p.S372P	TSGA10_ENST00000539964.1_Missense_Mutation_p.S372P|TSGA10_ENST00000355053.4_Missense_Mutation_p.S372P|TSGA10_ENST00000410001.1_Missense_Mutation_p.S372P|TSGA10_ENST00000478090.1_5'UTR	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	372					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AATTTTTTGGACAGTGCCTAC	0.264000													13	62					0	0	0.001368	0	0
MX1	4599	broad.mit.edu	37	21	42821111	42821111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:42821111C>T	ENST00000398600.2	+	16	2346	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	MX1_ENST00000398598.3_Missense_Mutation_p.R441C|MX1_ENST00000288383.6_Missense_Mutation_p.R418C|MX1_ENST00000455164.2_Missense_Mutation_p.R441C	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	441					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AAATCAGTATCGTGGTAGAGA	0.373000													7	99					0	0	0.004482	0	0
SNAP91	9892	broad.mit.edu	37	6	84284828	84284828	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:84284828C>T	ENST00000428679.2	-	26	2936	c.2343G>A	c.(2341-2343)caG>caA	p.Q781Q	SNAP91_ENST00000195649.6_Silent_p.Q776Q|SNAP91_ENST00000520213.1_Silent_p.Q474Q|SNAP91_ENST00000520302.1_Silent_p.Q751Q|SNAP91_ENST00000439399.2_Silent_p.Q781Q|SNAP91_ENST00000521743.1_Silent_p.Q781Q|SNAP91_ENST00000369694.2_Silent_p.Q781Q|SNAP91_ENST00000521485.1_Silent_p.Q776Q|SNAP91_ENST00000437520.1_Silent_p.Q474Q			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	781					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)		CAGCATTCCACTGAAGATCTC	0.428000													4	9					0	0	0.000248	0	0
TTLL7	79739	broad.mit.edu	37	1	84399432	84399432	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:84399432G>A	ENST00000260505.8	-	9	1283	c.906C>T	c.(904-906)acC>acT	p.T302T	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	302	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CTACAATCAGGGTCTTTACCA	0.438000													8	22					0	0	0.003080	0	0
CUBNP3	100421634	broad.mit.edu	37	10	45644278	45644278	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:45644278C>T	ENST00000427229.2	+	0	449																											CAGGGAAATTCATCTATTTAT	0.378000													6	23					0	0	0.001984	0	0
TSEN54	283989	broad.mit.edu	37	17	73518163	73518163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:73518163C>T	ENST00000333213.6	+	8	1037	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	334					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGACAGACGCTGAGTCCTGG	0.657000													3	4					0	0	0.000248	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3687268	3687268	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:3687268G>A	ENST00000344754.4	-	2	134	c.135C>T	c.(133-135)ttC>ttT	p.F45F	SIGLEC1_ENST00000202578.4_Silent_p.F45F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	45	Ig-like V-type.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGTCGGCAGGGAAGCTGAAGA	0.662000													3	4					0	0	0.004672	0	0
PRRC2B	84726	broad.mit.edu	37	9	134321958	134321958	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:134321958C>G	ENST00000357304.4	+	6	839	c.784C>G	c.(784-786)Cga>Gga	p.R262G	PRRC2B_ENST00000405995.1_Missense_Mutation_p.R262G|PRRC2B_ENST00000458550.1_Missense_Mutation_p.R262G	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	262							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TCAGCCTGTCCGAAAAGGGGC	0.537000													10	12					0	0	0.000673	0	0
LOC440040	440040	broad.mit.edu	37	11	49598034	49598034	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:49598034C>T	ENST00000527477.1	+	0	638																											TGGAAAGGATCAATTCAGACC	0.532000													5	9					0	0	0.001168	0	0
SEMA4C	54910	broad.mit.edu	37	2	97530576	97530576	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:97530576G>A	ENST00000305476.5	-	9	960	c.828C>T	c.(826-828)acC>acT	p.T276T		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	276	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TCAGGAACGTGGTCCACTTCC	0.677000													19	26					0	0	0.002299	0	0
DNAH3	55567	broad.mit.edu	37	16	21061243	21061243	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:21061243G>A	ENST00000261383.3	-	30	4334	c.4335C>T	c.(4333-4335)gcC>gcT	p.A1445A	DNAH3_ENST00000415178.1_Silent_p.A1445A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1445	AAA 1 (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)		GCTTAGCCAAGGCTTTGGCCA	0.532000													41	100					0	0	0.002852	0	0
PSMD9	5715	broad.mit.edu	37	12	122353785	122353785	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:122353785C>T	ENST00000544724.1	+	3	2701	c.312C>T	c.(310-312)atC>atT	p.I104I	PSMD9_ENST00000261817.2_Silent_p.I192I|RP11-87C12.2_ENST00000542602.1_Silent_p.I88I|RP11-87C12.2_ENST00000544911.1_3'UTR|PSMD9_ENST00000541212.1_Silent_p.I193I			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	193					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 insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		TGACAGTGATCCGCAGGGGGG	0.478000													10	25					0	0	0.001368	0	0
CYTH4	27128	broad.mit.edu	37	22	37707063	37707063	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:37707063C>T	ENST00000248901.6	+	10	1030	c.843C>T	c.(841-843)ttC>ttT	p.F281F		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	281	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GGCGCTGGTTCATCCTGACCG	0.627000													41	80					0	0	0.002522	0	0
PARP4	143	broad.mit.edu	37	13	25026555	25026555	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:25026555G>A	ENST00000381989.3	-	24	3108	c.3003C>T	c.(3001-3003)gcC>gcT	p.A1001A		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1001	VWFA.				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)		CGATACCGCAGGCGAATAACC	0.587000													53	78					0	0	0.003610	0	0
HRH4	59340	broad.mit.edu	37	18	22048792	22048792	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:22048792C>T	ENST00000256906.4	+	2	334	c.234C>T	c.(232-234)ttC>ttT	p.F78F	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	78						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	ACACGCTGTTCGAATGGGATT	0.398000													4	39					0	0	0.000602	0	0
SLC1A7	6512	broad.mit.edu	37	1	53558404	53558404	+	Missense_Mutation	SNP	C	C	T	rs139648137		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:53558404C>T	ENST00000371494.4	-	7	980	c.853G>A	c.(853-855)Gac>Aac	p.D285N		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	285						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GCCCTGGGGTCGTCCATCTCC	0.622000													35	66					0	0	0.001485	0	0
NLRP11	204801	broad.mit.edu	37	19	56321174	56321174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:56321174C>T	ENST00000443188.1	-	5	1512	c.802G>A	c.(802-804)Gct>Act	p.A268T	NLRP11_ENST00000360133.3_Missense_Mutation_p.A268T|NLRP11_ENST00000589093.1_Missense_Mutation_p.A268T|NLRP11_ENST00000592953.1_Missense_Mutation_p.A169T|NLRP11_ENST00000589824.2_Missense_Mutation_p.A268T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	268	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAGCCTGGAGCCATTTTTCTC	0.458000													36	37					0	0	0.005524	0	0
PLCB1	23236	broad.mit.edu	37	20	8862293	8862293	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:8862293T>G	ENST00000338037.6	+	32	3475	c.3448T>G	c.(3448-3450)Tac>Gac	p.Y1150D	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1150					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						GGAGCAAGAATACCAAGACAA	0.458000													33	86					0	0	0.004878	0	0
APOB	338	broad.mit.edu	37	2	21236095	21236095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:21236095G>A	ENST00000233242.1	-	25	4280	c.4153C>T	c.(4153-4155)Ctt>Ttt	p.L1385F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1385					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)	CGAGCCCGAAGGCTGAAATGG	0.532000													52	275					0	0	0.003610	0	0
HECW2	57520	broad.mit.edu	37	2	197297976	197297976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:197297976G>A	ENST00000260983.2	-	2	354	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	58					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AAGCTGGAGCGGCTCTCAGAA	0.582000													24	45					0	0	0.005443	0	0
YBEY	54059	broad.mit.edu	37	21	47711284	47711284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:47711284C>T	ENST00000329319.3	+	3	645	c.247C>T	c.(247-249)Cca>Tca	p.P83S	YBEY_ENST00000339195.6_Intron|YBEY_ENST00000397691.1_Missense_Mutation_p.P83S|YBEY_ENST00000397692.1_Intron|YBEY_ENST00000397694.1_Missense_Mutation_p.P38S|YBEY_ENST00000397701.4_Missense_Mutation_p.P83S	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	83							metal ion binding|metalloendopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						GCCTGATTTTCCAGATGACTA	0.413000													10	37					0	0	0.000978	0	0
DNAH5	1767	broad.mit.edu	37	5	13794053	13794053	+	Missense_Mutation	SNP	C	C	T	rs147236883	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13794053C>T	ENST00000265104.4	-	48	8106	c.8002G>A	c.(8002-8004)Gga>Aga	p.G2668R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2668	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)					ACCTGATCTCCCCACTCATTG	0.308000									Kartagener syndrome				8	14					0	0	0.004482	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526623	173526623	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:173526623G>A	ENST00000367714.3	-	10	1493	c.1071C>T	c.(1069-1071)agC>agT	p.S357S	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Silent_p.S255S|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	357					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TCAAAATAGGGCTCACTAACA	0.338000													146	109					0	0	0.003610	0	0
CHRND	1144	broad.mit.edu	37	2	233394806	233394806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:233394806C>T	ENST00000536614.1	+	6	695	c.667C>T	c.(667-669)Cat>Tat	p.H223Y	CHRND_ENST00000258385.3_Silent_p.L259L|CHRND_ENST00000543200.1_Silent_p.L244L|CHRND_ENST00000457943.2_Intron			Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	0					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CCTGCGTGCTCATCTCCTTCA	0.627000													11	44					0	0	0.003163	0	0
TRBV7-4	28594	broad.mit.edu	37	7	142176363	142176363	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142176363C>T	ENST00000390369.2	-	0	312																											ACAGCTGAGTCCCCCTGCTCT	0.572000													22	32					0	0	0.004656	0	0
TRPC5	7224	broad.mit.edu	37	X	111097263	111097263	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:111097263C>T	ENST00000262839.2	-	4	1890	c.972G>A	c.(970-972)cgG>cgA	p.R324R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	324					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCCAGTGTTTCCGCCGCCATC	0.517000													14	2					0	0	0.004007	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864281	22864281	+	Missense_Mutation	SNP	C	C	T	rs143117271		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:22864281C>T	ENST00000251822.6	+	5	1060	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.R182W|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.R197W	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	175	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGAGAAGGGTCGGGAGGTGGC	0.572000													15	45					0	0	0.002450	0	0
CRB1	23418	broad.mit.edu	37	1	197390751	197390751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:197390751C>T	ENST00000367400.3	+	6	1928	c.1793C>T	c.(1792-1794)cCa>cTa	p.P598L	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.P79L|CRB1_ENST00000535699.1_Missense_Mutation_p.P529L|CRB1_ENST00000538660.1_Missense_Mutation_p.P598L|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.P486L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	598	Laminin G-like 1.				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						GCTCCTACTCCACTTGAAAGT	0.448000													19	86					0	0	0.000958	0	0
RANBP2	5903	broad.mit.edu	37	2	109382422	109382422	+	Silent	SNP	A	A	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:109382422A>C	ENST00000283195.6	+	20	5553	c.5427A>C	c.(5425-5427)ccA>ccC	p.P1809P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1809					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						CCTCTAAACCAACTCATAAAC	0.418000													23	26					0	0	0.002299	0	0
ZNF560	147741	broad.mit.edu	37	19	9577333	9577333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9577333C>T	ENST00000301480.4	-	10	2503	c.2290G>A	c.(2290-2292)Gga>Aga	p.G764R		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GGTTTCTCTCCCATATGAGTT	0.443000													9	51					0	0	0.004482	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43939477	43939477	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:43939477C>T	ENST00000282406.4	+	15	2525	c.2415C>T	c.(2413-2415)tcC>tcT	p.S805S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	805						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACCCACTTTCCCTGCAGCCTG	0.483000													68	300					0	0	0.003610	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263823	140263823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140263823C>T	ENST00000289272.2	+	1	1970	c.1970C>T	c.(1969-1971)cCc>cTc	p.P657L	PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P657L|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.P657H(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)			CACGGTGAGCCCGCGCTGACG	0.692000													5	39					0	0	0.001984	0	0
TTC36	143941	broad.mit.edu	37	11	118399448	118399448	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:118399448G>A	ENST00000539546.1	+	3	407	c.72G>A	c.(70-72)gaG>gaA	p.E24E	RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|TTC36_ENST00000302783.4_Silent_p.E83E|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA			A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	83							binding			lung(2)	2						TGCTGCCTGAGAGGGCTTCAG	0.647000													11	16					0	0	0.001855	0	0
ABCB5	340273	broad.mit.edu	37	7	20766722	20766722	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:20766722C>T	ENST00000404938.2	+	22	3337	c.2685C>T	c.(2683-2685)gcC>gcT	p.A895A	ABCB5_ENST00000258738.6_Silent_p.A450A	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	450					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGGAAAAAGCCTTCGAGCAAA	0.323000													25	54					0	0	0.005443	0	0
CHRDL2	25884	broad.mit.edu	37	11	74414480	74414480	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:74414480G>A	ENST00000376332.3	-	8	1312	c.816C>T	c.(814-816)ttC>ttT	p.F272F	CHRDL2_ENST00000263671.5_Silent_p.F272F|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	272	VWFC 3.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GCAAGGGGCCGAAGGCACGGA	0.642000													8	15					0	0	0.004482	0	0
USP30	84749	broad.mit.edu	37	12	109523491	109523491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:109523491C>T	ENST00000257548.5	+	13	1402	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	USP30_ENST00000392784.2_Missense_Mutation_p.R406W	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	437					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATACCTCTTCCGGCTGATGGC	0.458000													45	53					0	0	0.003610	0	0
ZPBP2	124626	broad.mit.edu	37	17	38031605	38031605	+	Silent	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:38031605T>C	ENST00000377940.3	+	6	880	c.741T>C	c.(739-741)agT>agC	p.S247S	ZPBP2_ENST00000348931.4_Silent_p.S269S|ZPBP2_ENST00000584588.1_Silent_p.S196S	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	269					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGACCACAGTTTGCAAGTAG	0.378000													13	16					0	0	0.003163	0	0
FLT1	2321	broad.mit.edu	37	13	28971101	28971101	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:28971101G>A	ENST00000282397.4	-	12	1907	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	FLT1_ENST00000541932.1_Silent_p.I552I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	552	Ig-like C2-type 5.				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)	GCTTACCTGTGATATAAAAGC	0.398000													5	21					0	0	0.000602	0	0
OTOA	146183	broad.mit.edu	37	16	21721277	21721277	+	Silent	SNP	G	G	A	rs143326637	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:21721277G>A	ENST00000388958.3	+	12	1174	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S	OTOA_ENST00000286149.4_Silent_p.S405S|OTOA_ENST00000388956.4_Silent_p.S312S|OTOA_ENST00000388957.3_Silent_p.S67S	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	405					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTTCTTTGTCGGATGCAGTTG	0.547000													24	37					0	0	0.005443	0	0
NEFL	4747	broad.mit.edu	37	8	24813304	24813304	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:24813304C>T	ENST00000221169.5	-	0	1320							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	p.Q242H(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|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)		CCACGGAGATCTGCGCGTACT	0.577000													11	24					0	0	0.001368	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106692133	106692133	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:106692133C>T	ENST00000390607.2	-	0	70																											ATGGTGAATCCTCGGTGCTCA	0.493000													25	65					0	0	0.005443	0	0
CTNND1	1500	broad.mit.edu	37	11	57574431	57574431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:57574431C>T	ENST00000524630.1	+	11	2434	c.1921C>T	c.(1921-1923)Cct>Tct	p.P641S	CTNND1_ENST00000428599.2_Missense_Mutation_p.P641S|CTNND1_ENST00000426142.2_Missense_Mutation_p.P540S|CTNND1_ENST00000530094.1_Missense_Mutation_p.P540S|CTNND1_ENST00000399039.4_Missense_Mutation_p.P647S|CTNND1_ENST00000525902.1_Missense_Mutation_p.P324S|CTNND1_ENST00000532844.1_Missense_Mutation_p.P593S|CTNND1_ENST00000360682.6_Missense_Mutation_p.P647S|CTNND1_ENST00000526772.1_Missense_Mutation_p.P318S|CTNND1_ENST00000361391.6_Missense_Mutation_p.P641S|CTNND1_ENST00000526938.1_Missense_Mutation_p.P647S|CTNND1_ENST00000399050.4_Missense_Mutation_p.P647S|CTNND1_ENST00000361796.4_Missense_Mutation_p.P641S|CTNND1_ENST00000358694.6_Missense_Mutation_p.P641S|CTNND1_ENST00000528232.1_Missense_Mutation_p.P546S|CTNND1_ENST00000531014.1_Missense_Mutation_p.P318S|CTNND1_ENST00000532463.1_Missense_Mutation_p.P540S|CTNND1_ENST00000532245.1_Missense_Mutation_p.P540S|CTNND1_ENST00000529986.1_Missense_Mutation_p.P540S|CTNND1_ENST00000529873.1_Missense_Mutation_p.P587S|CTNND1_ENST00000528621.1_Missense_Mutation_p.P587S|CTNND1_ENST00000361332.4_Missense_Mutation_p.P641S|CTNND1_ENST00000529526.1_Missense_Mutation_p.P587S|CTNND1_ENST00000532649.1_Missense_Mutation_p.P587S|CTNND1_ENST00000532787.1_Missense_Mutation_p.P540S|CTNND1_ENST00000530748.1_Missense_Mutation_p.P593S|CTNND1_ENST00000529919.1_Missense_Mutation_p.P647S|CTNND1_ENST00000526357.1_Missense_Mutation_p.P587S|CTNND1_ENST00000534579.1_Missense_Mutation_p.P587S|CTNND1_ENST00000527467.1_Missense_Mutation_p.P324S|CTNND1_ENST00000415361.2_Missense_Mutation_p.P546S|CTNND1_ENST00000533667.1_Missense_Mutation_p.P318S			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	647					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGTGGATTTCCCTAAAAGAAC	0.378000													5	7					0	0	0.000602	0	0
CCDC39	339829	broad.mit.edu	37	3	180372635	180372635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:180372635C>T	ENST00000273654.4	-	13	1716	c.1097G>A	c.(1096-1098)aGa>aAa	p.R366K	CCDC39_ENST00000442201.2_Missense_Mutation_p.R282K			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	282					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CACAGAAATTCTTTTCTCAAA	0.358000													13	30					0	0	0.002450	0	0
SALL1	6299	broad.mit.edu	37	16	51175015	51175015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:51175015G>A	ENST00000440970.1	-	2	1258	c.827C>T	c.(826-828)tCg>tTg	p.S276L	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S373L	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	373					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGTGAGGACGATGATGAGAC	0.512000													29	58					0	0	0.001061	0	0
CPPED1	55313	broad.mit.edu	37	16	12758853	12758853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:12758853G>A	ENST00000381774.4	-	4	1075	c.835C>T	c.(835-837)Cga>Tga	p.R279*	CPPED1_ENST00000261660.4_Missense_Mutation_p.P105L|CPPED1_ENST00000433677.2_Nonsense_Mutation_p.R137*	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	279							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						ACCACGACTCGGAGCCCGTGG	0.537000													38	49					0	0	0.005524	0	0
DDX11	1663	broad.mit.edu	37	12	31242042	31242042	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:31242042C>A	ENST00000407793.2	+	7	1000	c.749C>A	c.(748-750)cCc>cAc	p.P250H	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.P224H|DDX11_ENST00000545668.1_Missense_Mutation_p.P250H|DDX11_ENST00000350437.4_Missense_Mutation_p.P250H|DDX11_ENST00000542838.1_Missense_Mutation_p.P250H	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	250	Helicase ATP-binding.				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)					AAGAAGAGCCCCTTTGGCAAG	0.522000										Multiple Myeloma(12;0.14)			6	49					8.12818e-05	0.000168507	0.001984	1	0
ZNF236	7776	broad.mit.edu	37	18	74607011	74607011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:74607011C>T	ENST00000253159.8	+	10	1652	c.1454C>T	c.(1453-1455)cCc>cTc	p.P485L	ZNF236_ENST00000320610.9_Missense_Mutation_p.P487L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	485					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CATGTGTGTCCCTACTGCGCC	0.667000													21	30					0	0	0.003954	0	0
GCK	2645	broad.mit.edu	37	7	44197675	44197675	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:44197675G>A	ENST00000395796.3	-	2	323	c.39C>T	c.(37-39)tcC>tcT	p.S13S	GCK_ENST00000437084.1_Intron|GCK_ENST00000403799.3_Intron|GCK_ENST00000476008.1_Intron|GCK_ENST00000345378.2_Intron	NM_033508.1	NP_277043.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	0					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						ATCTGACCTGggagttgggtt	0.542000													15	484					0	0	0.002450	0	0
SKAP2	8935	broad.mit.edu	37	7	26883666	26883666	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:26883666T>C	ENST00000345317.2	-	4	603	c.290A>G	c.(289-291)gAt>gGt	p.D97G	SKAP2_ENST00000539623.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	97					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GGGGGCTTCATCGTCTTTATC	0.413000													43	123					0	0	0.003610	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8218223	8218223	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:8218223G>A	ENST00000361926.3	+	5	1099		c.e5-1		ARHGEF15_ENST00000421050.1_Splice_Site	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15						negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TTTCTCCACAGGGAAGAGGAG	0.607000													13	13					0	0	0.001368	0	0
ZNF281	23528	broad.mit.edu	37	1	200377285	200377285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:200377285G>A	ENST00000294740.2	-	2	1673	c.1549C>T	c.(1549-1551)Ctc>Ttc	p.L517F	ZNF281_ENST00000367352.3_Missense_Mutation_p.L481F|ZNF281_ENST00000367353.1_Missense_Mutation_p.L517F	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	517					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GTACTTTGGAGAAGACCAATG	0.398000													35	145					0	0	0.001706	0	0
ARRDC3	57561	broad.mit.edu	37	5	90667261	90667261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:90667261G>A	ENST00000265138.3	-	8	1467	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	401					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GACTGATCAGGATTTGGATCA	0.398000													6	10					0	0	0.001168	0	0
SYNE2	23224	broad.mit.edu	37	14	64628973	64628973	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:64628973C>T	ENST00000357395.3	+	89	16577	c.5433C>T	c.(5431-5433)ccC>ccT	p.P1811P	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.P5426P|SYNE2_ENST00000394768.2_Silent_p.P1811P|SYNE2_ENST00000554584.1_Silent_p.P5343P|SYNE2_ENST00000358025.3_Silent_p.P5426P|SYNE2_ENST00000555002.1_Silent_p.P2060P			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5426					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)		AGATCCTGCCCCCAGCCCTGC	0.547000													33	40					0	0	0.001287	0	0
EPHB6	2051	broad.mit.edu	37	7	142563955	142563955	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142563955G>C	ENST00000392957.2	+	9	2130	c.1343G>C	c.(1342-1344)gGg>gCg	p.G448A	EPHB6_ENST00000411471.2_Missense_Mutation_p.G171A|EPHB6_ENST00000442129.1_Missense_Mutation_p.G448A	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	448	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGTTAGTGGGGGGACTCCGG	0.617000													5	26					0	0	0.000443	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348394	140348394	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140348394G>A	ENST00000289269.5	+	1	2575	c.2043G>A	c.(2041-2043)gtG>gtA	p.V681V	PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		681	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCTGTGGTGGATAGGGTTT	0.473000													8	65					0	0	0.000443	0	0
TLK2	11011	broad.mit.edu	37	17	60689856	60689856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:60689856C>T	ENST00000582809.1	+	23	2439	c.1736C>T	c.(1735-1737)tCt>tTt	p.S579F	TLK2_ENST00000343388.7_Missense_Mutation_p.S696F|TLK2_ENST00000346027.5_Missense_Mutation_p.S728F|TLK2_ENST00000542523.1_Missense_Mutation_p.S696F|TLK2_ENST00000326270.9_Missense_Mutation_p.S750F			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	750	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AAGTCAGTCTCTACAAGTAGC	0.502000													31	55					0	0	0.001512	0	0
MYO18B	84700	broad.mit.edu	37	22	26264314	26264314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:26264314G>A	ENST00000335473.7	+	22	4163	c.3913G>A	c.(3913-3915)Gat>Aat	p.D1305N	MYO18B_ENST00000536101.1_Missense_Mutation_p.D1305N|MYO18B_ENST00000407587.2_Missense_Mutation_p.D1306N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1305	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						GGAGACCCTGGATCTGGAAAA	0.527000													6	11					0	0	0.004482	0	0
IGSF10	285313	broad.mit.edu	37	3	151161357	151161357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:151161357C>T	ENST00000282466.3	-	5	5377	c.5378G>A	c.(5377-5379)gGa>gAa	p.G1793E		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	1793	Ig-like C2-type 4.				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)			CTGCCTACTTCCCTGGGATGA	0.502000													16	41					0	0	0.004990	0	0
OR3A1	4994	broad.mit.edu	37	17	3195632	3195632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:3195632G>A	ENST00000323404.1	-	1	244	c.245C>T	c.(244-246)cCa>cTa	p.P82L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CAACATTGATGGAACAGTGAC	0.562000													15	22					0	0	0.004007	0	0
NSUN4	387338	broad.mit.edu	37	1	46810494	46810494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:46810494C>T	ENST00000474844.1	+	2	765	c.115C>T	c.(115-117)Cct>Tct	p.P39S	NSUN4_ENST00000537428.1_5'UTR|NSUN4_ENST00000536062.1_5'UTR|NSUN4_ENST00000498008.1_3'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	39							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GCCCAAATTCCCTGCTGTTCG	0.502000													7	177					0	0	0.003080	0	0
MGAM	8972	broad.mit.edu	37	7	141803166	141803166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:141803166C>T	ENST00000475668.2	+	70	8165	c.8111C>T	c.(8110-8112)cCc>cTc	p.P2704L	MGAM_ENST00000549489.2_Missense_Mutation_p.P1808L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1808					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)	GGCAGTGTCCCCGTTACCAGT	0.458000													11	20					0	0	0.001368	0	0
CCR1	1230	broad.mit.edu	37	3	46245260	46245260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:46245260G>A	ENST00000296140.3	-	2	670	c.545C>T	c.(544-546)aCc>aTc	p.T182I	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	182					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)		AAGGCTGCAGGTGTGGTGAGT	0.498000													27	70					0	0	0.001271	0	0
HERC2	8924	broad.mit.edu	37	15	28424160	28424160	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:28424160C>T	ENST00000261609.7	-	59	9144	c.9036G>A	c.(9034-9036)aaG>aaA	p.K3012K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3012					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGGCATACACCTTCCCTTCCA	0.517000													4	47					0	0	0.000602	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011267	105011267	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:105011267C>T	ENST00000372582.1	+	11	2430	c.1674C>T	c.(1672-1674)atC>atT	p.I558I	IL1RAPL2_ENST00000344799.4_Silent_p.I558I|IL1RAPL2_ENST00000538500.1_Silent_p.I163I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	558	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAATGCCCATCAAGAAAAAAG	0.428000													37	25					0	0	0.004878	0	0
KPNA6	23633	broad.mit.edu	37	1	32632830	32632830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:32632830C>T	ENST00000373625.3	+	12	1270	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	KPNA6_ENST00000537234.1_Missense_Mutation_p.R390C|KPNA6_ENST00000545542.1_Missense_Mutation_p.R398C	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	393	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGCAGAGTTTCGTACAAGGAA	0.463000													90	157					0	0	0.003610	0	0
CEP192	55125	broad.mit.edu	37	18	13073048	13073048	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:13073048A>G	ENST00000506447.1	+	30	5560	c.5480A>G	c.(5479-5481)aAc>aGc	p.N1827S	CEP192_ENST00000430049.2_Missense_Mutation_p.N1352S|CEP192_ENST00000325971.8_Missense_Mutation_p.N1231S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1422										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGACCAGTAACTGTGAGATC	0.348000													7	75					0	0	0.004482	0	0
OR56B1	387748	broad.mit.edu	37	11	5757959	5757959	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5757959C>T	ENST00000317121.3	+	1	279	c.213C>T	c.(211-213)ttC>ttT	p.F71F	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	71					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)		TGTATATTTTCCTTGGCATCC	0.493000													5	22					0	0	0.000602	0	0
GLIS3	169792	broad.mit.edu	37	9	3829391	3829391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:3829391C>T	ENST00000324333.10	-	9	2303	c.2110G>A	c.(2110-2112)Gac>Aac	p.D704N	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.D859N	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	704					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)		ACTAGGCAGTCCTCAAACGAA	0.537000													12	9					0	0	0.001368	0	0
SEC16A	9919	broad.mit.edu	37	9	139371701	139371701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:139371701G>A	ENST00000313050.7	-	1	440	c.367C>T	c.(367-369)Ccg>Tcg	p.P123S		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2093					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCAGAAAACGGACTGGCATGT	0.582000													41	40					0	0	0.001485	0	0
UTP3	57050	broad.mit.edu	37	4	71555661	71555661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:71555661C>T	ENST00000254803.2	+	1	1466	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	423					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GGGACTTACTCCTAGGAGAAA	0.393000													37	40					0	0	0.001287	0	0
ACP6	51205	broad.mit.edu	37	1	147120214	147120214	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:147120214C>T	ENST00000369238.5	-	9	1425		c.e9-1		ACP6_ENST00000460583.1_Splice_Site	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic						lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ATACAGCTTTCTGCAAGAGGA	0.493000													26	49					0	0	0.005443	0	0
TSPAN2	10100	broad.mit.edu	37	1	115615584	115615584	+	Silent	SNP	G	G	A	rs150329225		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:115615584G>A	ENST00000369516.2	-	2	145	c.114C>T	c.(112-114)ttC>ttT	p.F38F	TSPAN2_ENST00000369515.2_Silent_p.F38F|TSPAN2_ENST00000369514.2_Silent_p.F38F	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	38						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TGGCACCTCCGAACCGAAACC	0.502000													28	54					0	0	0.003271	0	0
COL5A3	50509	broad.mit.edu	37	19	10100192	10100192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:10100192G>A	ENST00000264828.3	-	25	2084	c.1999C>T	c.(1999-2001)Cct>Tct	p.P667S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	667	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)			GGGTTTCCAGGGGGACCCTGA	0.572000													7	27					0	0	0.003080	0	0
EPHA3	2042	broad.mit.edu	37	3	89521768	89521768	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:89521768G>A	ENST00000336596.2	+	16	3070	c.2846_splice	c.e16+1	p.D949_splice	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	949	SAM.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATTTCCACAGAGTAAGAAAA	0.383000										TSP Lung(6;0.00050)			16	26					0	0	0.003163	0	0
OR1D2	4991	broad.mit.edu	37	17	2995854	2995854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:2995854G>A	ENST00000331459.1	-	1	436	c.437C>T	c.(436-438)tCc>tTc	p.S146F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	146					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CCAACACAAGGAAAGGAGTAA	0.522000													14	17					0	0	0.002450	0	0
PAK7	57144	broad.mit.edu	37	20	9561046	9561046	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:9561046A>T	ENST00000378429.3	-	5	1282	c.736T>A	c.(736-738)Tcc>Acc	p.S246T	PAK7_ENST00000353224.5_Missense_Mutation_p.S246T|PAK7_ENST00000378423.1_Missense_Mutation_p.S246T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	246	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)			CTCTCCTTGGAGCACCCGCTG	0.532000													29	47					0	0	0.005443	0	0
SIPA1	6494	broad.mit.edu	37	11	65417654	65417654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:65417654C>T	ENST00000394224.3	+	14	3190	c.2894C>T	c.(2893-2895)tCt>tTt	p.S965F	SIPA1_ENST00000534313.1_Missense_Mutation_p.S965F|SIPA1_ENST00000394227.3_Missense_Mutation_p.S863F|SIPA1_ENST00000527525.1_Missense_Mutation_p.S863F	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	965					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACTCCAAAATCTGATGCTGAG	0.607000													17	82					0	0	0.001216	0	0
TEKT1	83659	broad.mit.edu	37	17	6716248	6716248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:6716248C>T	ENST00000338694.2	-	6	883	c.754G>A	c.(754-756)Gat>Aat	p.D252N	TEKT1_ENST00000535086.1_Missense_Mutation_p.D106N	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	252					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)				TTGCGCAGATCATTGGCTGTC	0.542000													54	42					0	0	0.003610	0	0
NAA16	79612	broad.mit.edu	37	13	41933026	41933026	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:41933026C>T	ENST00000379406.3	+	12	1662	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	NAA16_ENST00000379367.3_Silent_p.S446S	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	446					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TCATCAATTCCAAATGTGCAA	0.373000													51	52					0	0	0.003610	0	0
NID1	4811	broad.mit.edu	37	1	236192896	236192896	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:236192896G>A	ENST00000264187.6	-	7	1774	c.1692C>T	c.(1690-1692)tcC>tcT	p.S564S	NID1_ENST00000366595.3_Silent_p.S564S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	564	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CAATGTGCACGGAGGAGCCGA	0.642000													6	14					0	0	0.001168	0	0
GRIA1	2890	broad.mit.edu	37	5	153149814	153149814	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:153149814G>A	ENST00000285900.5	+	13	2452	c.2109G>A	c.(2107-2109)ggG>ggA	p.G703G	GRIA1_ENST00000518783.1_Silent_p.G713G|GRIA1_ENST00000448073.4_Silent_p.G713G|GRIA1_ENST00000521843.2_Silent_p.G634G|GRIA1_ENST00000340592.5_Silent_p.G703G|GRIA1_ENST00000518142.1_Silent_p.G623G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	703					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGAGGAGGGGATGATTCGAG	0.483000													7	26					0	0	0.001984	0	0
ATM	472	broad.mit.edu	37	11	108124634	108124634	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:108124634C>T	ENST00000278616.4	+	13	2377	c.1992C>T	c.(1990-1992)acC>acT	p.T664T	ATM_ENST00000452508.2_Silent_p.T664T	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	664					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACTTTTTAACCATTGTGAGAG	0.388000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			12	33					0	0	0.001855	0	0
FANCI	55215	broad.mit.edu	37	15	89849247	89849247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:89849247C>T	ENST00000310775.7	+	32	3445	c.3359C>T	c.(3358-3360)tCt>tTt	p.S1120F	FANCI_ENST00000300027.8_Missense_Mutation_p.S1060F	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1120					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)					GAAGAGGCCTCTTCTCAGGCA	0.403000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				41	64					0	0	0.003610	0	0
SLC6A2	6530	broad.mit.edu	37	16	55725938	55725938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:55725938G>A	ENST00000379906.2	+	5	1147	c.892G>A	c.(892-894)Gac>Aac	p.D298N	SLC6A2_ENST00000561820.1_Missense_Mutation_p.D298N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D298N|SLC6A2_ENST00000567238.1_Missense_Mutation_p.D193N|SLC6A2_ENST00000414754.3_Missense_Mutation_p.D298N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D298N|SLC6A2_ENST00000566163.1_Intron	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	298					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			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)	CCTGCACATCGACTTCTACCG	0.572000													27	54					0	0	0.001512	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54891547	54891547	+	Translation_Start_Site	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:54891547T>A	ENST00000293373.6	+	0	53					NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like						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						GACATTGCTGTCTGGTGCTCC	0.527000													5	25					0	0	0.001168	0	0
FUT1	2523	broad.mit.edu	37	19	49253686	49253686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:49253686C>T	ENST00000310160.3	-	4	1827	c.853G>A	c.(853-855)Gga>Aga	p.G285R		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	285					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GCCTCCTGTCCATCGCCAGCA	0.572000													18	65					0	0	0.000958	0	0
MORC1	27136	broad.mit.edu	37	3	108818308	108818308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:108818308G>A	ENST00000232603.5	-	6	402	c.320C>T	c.(319-321)tCc>tTc	p.S107F	MORC1_ENST00000483760.1_Missense_Mutation_p.S107F	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	107					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTCTCATGGACCCACTATA	0.348000													10	28					0	0	0.000443	0	0
ADAM12	8038	broad.mit.edu	37	10	127724837	127724837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:127724837C>T	ENST00000368679.4	-	21	2725	c.2416G>A	c.(2416-2418)Ggc>Agc	p.G806S		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	806					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ACATTCAGGCCGTTGAGGGGT	0.562000													27	61					0	0	0.002096	0	0
PDE7B	27115	broad.mit.edu	37	6	136512877	136512877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:136512877C>T	ENST00000308191.6	+	13	1555	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	418					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GAGCCTGTTGCCCAGGCAGCA	0.642000													3	9					0	0	0.004672	0	0
ANLN	54443	broad.mit.edu	37	7	36478869	36478869	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:36478869G>A	ENST00000265748.2	+	21	3161	c.2940G>A	c.(2938-2940)gtG>gtA	p.V980V	ANLN_ENST00000396068.2_Silent_p.V943V	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	980	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						aatGTCAAGTGAATTCCAGTG	0.313000													16	30					0	0	0.003163	0	0
NPY5R	4889	broad.mit.edu	37	4	164271826	164271826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:164271826C>T	ENST00000515560.1	+	4	1923	c.401C>T	c.(400-402)tCa>tTa	p.S134L	NPY5R_ENST00000338566.3_Missense_Mutation_p.S134L|NPY5R_ENST00000506953.1_Missense_Mutation_p.S134L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	134					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.L130fs*9(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTTTAATATCAATTGCCATT	0.358000													56	72					0	0	0.003610	0	0
NLRP12	91662	broad.mit.edu	37	19	54327271	54327271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54327271G>A	ENST00000324134.6	-	1	326	c.158C>T	c.(157-159)cCc>cTc	p.P53L	NLRP12_ENST00000354278.3_Missense_Mutation_p.P53L|NLRP12_ENST00000351894.4_Missense_Mutation_p.P53L|NLRP12_ENST00000391772.1_Missense_Mutation_p.P53L|NLRP12_ENST00000535162.1_Missense_Mutation_p.P53L|NLRP12_ENST00000345770.5_Missense_Mutation_p.P53L|NLRP12_ENST00000391773.1_Missense_Mutation_p.P53L|NLRP12_ENST00000391775.3_Missense_Mutation_p.P53L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	53	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CATTTCCAGGGGACCGGCCTT	0.592000													13	52					0	0	0.002450	0	0
TMC4	147798	broad.mit.edu	37	19	54676769	54676769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54676769G>A	ENST00000376591.4	-	1	175	c.44C>T	c.(43-45)tCt>tTt	p.S15F	TMC4_ENST00000301187.4_Missense_Mutation_p.S15F	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	15						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCACCCCCTAGAGGAGCCCCA	0.632000													32	138					0	0	0.003755	0	0
CCER1	196477	broad.mit.edu	37	12	91347709	91347709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:91347709G>A	ENST00000358859.2	-	1	1244	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		AGCGGGGCAAGAGACTGGTTT	0.537000													81	282					0	0	0.003610	0	0
CACNA1C	775	broad.mit.edu	37	12	2719789	2719789	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:2719789A>G	ENST00000399655.1	+	28	3906	c.3641A>G	c.(3640-3642)tAc>tGc	p.Y1214C	CACNA1C_ENST00000399617.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Y1234C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Y1234C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Y1239C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000480911.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Y1214C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Y1214C	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	1234					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)	AAAGTGTGGTACGTGGTCAAC	0.602000													16	39					0	0	0.004007	0	0
BPHL	670	broad.mit.edu	37	6	3129332	3129332	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:3129332C>T	ENST00000380368.2	+	5	1025	c.381C>T	c.(379-381)acC>acT	p.T127T	BPHL_ENST00000434640.1_Silent_p.T127T|BPHL_ENST00000380379.5_Silent_p.T144T|BPHL_ENST00000380375.3_Silent_p.T127T			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	144					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GGGGCATAACCGCACTCATTG	0.498000													37	81					0	0	0.001706	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793282	124793282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:124793282G>A	ENST00000298251.4	-	4	1162	c.757C>T	c.(757-759)Ctt>Ttt	p.L253F		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	253					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	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;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AAGGTCACAAGGAGGAAGATG	0.517000													31	45					0	0	0.002836	0	0
DSCAM	1826	broad.mit.edu	37	21	41711083	41711083	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:41711083C>T	ENST00000400454.1	-	7	1947	c.1470G>A	c.(1468-1470)gcG>gcA	p.A490A		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	490	Ig-like C2-type 5.				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)				GGACGACTCCCGCCGAGTTGT	0.517000													12	35					0	0	0.004990	0	0
GSS	2937	broad.mit.edu	37	20	33516755	33516755	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:33516755C>T	ENST00000216951.2	-	13	1400		c.e13-1		GSS_ENST00000451957.2_Splice_Site|GSS_ENST00000541098.1_Splice_Site	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase						nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CTTTTCCTGCCTATAGAAATG	0.557000													20	29					0	0	0.003330	0	0
OR56B1	387748	broad.mit.edu	37	11	5757809	5757809	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5757809C>T	ENST00000317121.3	+	1	129	c.63C>T	c.(61-63)ttC>ttT	p.F21F	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	21					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)		TCTCTGAGTTCATCCTGCTGG	0.453000													13	21					0	0	0.001368	0	0
ACOXL	55289	broad.mit.edu	37	2	111551682	111551682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:111551682G>A	ENST00000389811.4	+	5	500	c.276G>A	c.(274-276)atG>atA	p.M92I	ACOXL_ENST00000439055.1_Missense_Mutation_p.M92I|ACOXL_ENST00000340561.4_Missense_Mutation_p.M92I			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	92					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TGTTTGCAATGACCGAGAGGG	0.557000													11	45					0	0	0.001855	0	0
LILRA4	23547	broad.mit.edu	37	19	54849831	54849831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54849831C>T	ENST00000291759.4	-	3	247	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	64	Ig-like C2-type 1.					integral to membrane	receptor activity	p.G64E(1)		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)		CATTGAGTTTCCCTCTTTATC	0.542000													27	81					0	0	0.002096	0	0
DPYD	1806	broad.mit.edu	37	1	98164935	98164935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:98164935C>T	ENST00000370192.3	-	6	752	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	218					'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)	TCTTGTTTTTCAAATATAGTG	0.363000													16	28					0	0	0.004007	0	0
RNF38	152006	broad.mit.edu	37	9	36390535	36390535	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:36390535G>A	ENST00000259605.6	-	2	198	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	RNF38_ENST00000357058.3_5'UTR|RNF38_ENST00000377885.2_5'UTR|RNF38_ENST00000350199.4_Intron|RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000353739.4_Intron	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	31							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			AGAGGGAACAGGCTCTGAAGT	0.458000													52	91					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9046048	9046048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9046048C>T	ENST00000397910.4	-	5	35786	c.35583G>A	c.(35581-35583)atG>atA	p.M11861I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11863	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						AAGTTGGAATCATTGTGCTGG	0.493000													18	92					0	0	0.006122	0	0
SSX7	280658	broad.mit.edu	37	X	52681933	52681933	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:52681933G>A	ENST00000298181.5	-	3	329	c.171C>T	c.(169-171)gcC>gcT	p.A57A		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	57	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GTTTAGTCATGGCCTCATACT	0.408000													39	22					0	0	0.004878	0	0
GGT5	2687	broad.mit.edu	37	22	24622626	24622626	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:24622626C>T	ENST00000327365.4	-	7	1427	c.1011G>A	c.(1009-1011)ggG>ggA	p.G337G	GGT5_ENST00000398292.3_Silent_p.G337G|GGT5_ENST00000418439.2_Silent_p.G260G|GGT5_ENST00000263112.7_Silent_p.G305G	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	337					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TTCGAGGGTCCCCCAGCCTCC	0.607000													19	36					0	0	0.001216	0	0
EVC2	132884	broad.mit.edu	37	4	5624544	5624544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:5624544G>A	ENST00000310917.2	-	14	2712	c.1981C>T	c.(1981-1983)Ctt>Ttt	p.L661F	EVC2_ENST00000344408.5_Missense_Mutation_p.L741F|EVC2_ENST00000344938.1_Missense_Mutation_p.L741F	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	741						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AACAGCGAAAGGGTCAGGGTC	0.647000													23	71					0	0	0.003954	0	0
DOCK3	1795	broad.mit.edu	37	3	51112817	51112817	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:51112817G>A	ENST00000266037.9	+	7	518	c.495G>A	c.(493-495)aaG>aaA	p.K165K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	165						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)		TGCCTCGGAAGGACTTTGAAG	0.438000													4	15					0	0	0.000602	0	0
ODF1	4956	broad.mit.edu	37	8	103573083	103573083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:103573083C>T	ENST00000285402.3	+	2	880	c.724C>T	c.(724-726)Cga>Tga	p.R242*	ODF1_ENST00000518835.1_Nonsense_Mutation_p.R35*	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	242					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CTGTGGAAGCCGATTTTCCTG	0.537000													7	122					0	0	0.003080	0	0
ESRP2	80004	broad.mit.edu	37	16	68265548	68265548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:68265548G>A	ENST00000473183.2	-	11	1887	c.1349C>T	c.(1348-1350)cCa>cTa	p.P450L	ESRP2_ENST00000565858.1_Missense_Mutation_p.P460L			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	460					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						GGGCAGCAGTGGGGCAGTCAG	0.612000													6	23					0	0	0.004482	0	0
PTPRT	11122	broad.mit.edu	37	20	41076894	41076894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:41076894G>A	ENST00000373198.3	-	9	1761	c.1526C>T	c.(1525-1527)cCc>cTc	p.P509L	PTPRT_ENST00000373184.1_Missense_Mutation_p.P509L|PTPRT_ENST00000373187.1_Missense_Mutation_p.P509L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P509L|PTPRT_ENST00000356100.2_Missense_Mutation_p.P509L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P509L|PTPRT_ENST00000373201.1_Missense_Mutation_p.P509L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	509	Fibronectin type-III 3.				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)				GGTCTCATTGGGAGGTTTCCA	0.483000													24	69					0	0	0.005443	0	0
USP34	9736	broad.mit.edu	37	2	61415732	61415732	+	Silent	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:61415732T>C	ENST00000398571.2	-	80	10222	c.10146A>G	c.(10144-10146)ccA>ccG	p.P3382P		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3382					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)			AAGTGCTCGTTGGGGTCAGGA	0.468000													34	48					0	0	0.005524	0	0
GRIA1	2890	broad.mit.edu	37	5	153085398	153085398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:153085398C>T	ENST00000285900.5	+	11	1937	c.1594C>T	c.(1594-1596)Ctt>Ttt	p.L532F	GRIA1_ENST00000518783.1_Missense_Mutation_p.L542F|GRIA1_ENST00000448073.4_Missense_Mutation_p.L542F|GRIA1_ENST00000521843.2_Missense_Mutation_p.L463F|GRIA1_ENST00000340592.5_Missense_Mutation_p.L532F|GRIA1_ENST00000518142.1_Missense_Mutation_p.L452F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	532					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTCTCCTTCCTTGATCCTTT	0.438000													21	100					0	0	0.002780	0	0
COL6A3	1293	broad.mit.edu	37	2	238263553	238263553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:238263553G>A	ENST00000295550.4	-	24	7068	c.6616C>T	c.(6616-6618)Ccc>Tcc	p.P2206S	COL6A3_ENST00000347401.3_Missense_Mutation_p.P2005S|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1599S|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2000S|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2000S|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2006S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2206	Collagen-like 3.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTAGCTCCGGGGGGTCCCCTT	0.592000													4	20					0	0	0.001168	0	0
SEL1L3	23231	broad.mit.edu	37	4	25777909	25777909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:25777909C>T	ENST00000399878.3	-	17	2781	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	SEL1L3_ENST00000264868.5_Missense_Mutation_p.E852K|SEL1L3_ENST00000502949.1_Missense_Mutation_p.E734K	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	887						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CATGAACCTTCCAGGTAGGCA	0.413000													18	67					0	0	0.001216	0	0
TPTE2	93492	broad.mit.edu	37	13	20006665	20006665	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:20006665G>A	ENST00000400230.2	-	16	1214	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L	TPTE2_ENST00000382978.1_Silent_p.L350L|TPTE2_ENST00000255310.6_Silent_p.L313L|TPTE2_ENST00000400103.2_Silent_p.L279L|TPTE2_ENST00000382975.4_Silent_p.L350L|TPTE2_ENST00000382977.4_Silent_p.L390L|TPTE2_ENST00000457266.2_Silent_p.L279L|TPTE2_ENST00000390680.2_Silent_p.L313L			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	390						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTCTTGGAGGGAGATTCCAGT	0.358000													6	42					0	0	0.001168	0	0
ZNF536	9745	broad.mit.edu	37	19	31040061	31040061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:31040061G>A	ENST00000355537.3	+	4	3682	c.3535G>A	c.(3535-3537)Gat>Aat	p.D1179N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D1179N(1)		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)					GGAGAACAACGATGAAGAGGA	0.557000													20	52					0	0	0.002299	0	0
RP1	6101	broad.mit.edu	37	8	55542164	55542164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:55542164G>A	ENST00000220676.1	+	4	5870	c.5722G>A	c.(5722-5724)Gat>Aat	p.D1908N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1908					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)			TGACTCTTTGGATAAACTGTA	0.403000													30	50					0	0	0.001786	0	0
SLC5A9	200010	broad.mit.edu	37	1	48708153	48708153	+	Silent	SNP	C	C	A	rs138580488		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:48708153C>A	ENST00000236495.5	+	14	1827	c.1777C>A	c.(1777-1779)Cgg>Agg	p.R593R	SLC5A9_ENST00000533824.1_Silent_p.R589R|SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000438567.2_Silent_p.R568R	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	568						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	p.R586W(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ATGGTGGACTCGGAACTGCCC	0.597000													38	67					9.8876e-21	2.07894e-20	0.004878	1	0
NUP210	23225	broad.mit.edu	37	3	13421065	13421065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:13421065C>T	ENST00000254508.5	-	7	1056	c.974G>A	c.(973-975)aGg>aAg	p.R325K		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	325					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AAGGATATTCCTGTGGCCAAG	0.562000													30	91					0	0	0.003755	0	0
OBSL1	23363	broad.mit.edu	37	2	220420890	220420890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:220420890C>T	ENST00000265318.4	-	13	4374	c.4061G>A	c.(4060-4062)gGc>gAc	p.G1354D	OBSL1_ENST00000265317.5_Silent_p.G386G|OBSL1_ENST00000373876.1_Silent_p.G1395G|OBSL1_ENST00000404537.1_Silent_p.G1487G|OBSL1_ENST00000603926.1_Silent_p.G1487G			O75147	OBSL1_HUMAN	obscurin-like 1	0	Ig-like 11.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCAGGGGCTGCCCACCTCGCA	0.667000													11	12					0	0	0.000978	0	0
POP1	10940	broad.mit.edu	37	8	99170302	99170302	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:99170302T>A	ENST00000401707.2	+	16	2959	c.2878T>A	c.(2878-2880)Tcc>Acc	p.S960T	POP1_ENST00000349693.3_Missense_Mutation_p.S960T	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	960					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GTTGCACTGCTCCAGAACTCT	0.587000													43	96					0	0	0.003610	0	0
CDHR2	54825	broad.mit.edu	37	5	175995791	175995791	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:175995791G>A	ENST00000510636.1	+	4	511	c.237G>A	c.(235-237)gtG>gtA	p.V79V	CDHR2_ENST00000261944.5_Silent_p.V79V|CDHR2_ENST00000506348.1_Silent_p.V79V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	79	Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGGGGAAGTGAAGCTGGCCA	0.627000													25	40					0	0	0.001512	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935516	155935516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:155935516G>A	ENST00000368316.1	-	9	765	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P99S|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.P127S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P126S|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P126S			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	126					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGTCGGAGGGGTAGATGGCC	0.622000													23	33					0	0	0.003330	0	0
DSP	1832	broad.mit.edu	37	6	7580111	7580111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:7580111G>A	ENST00000379802.3	+	23	4029	c.3688G>A	c.(3688-3690)Gat>Aat	p.D1230N	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1230	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.D1230N(1)		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)		GCAAAAAGAGGATGATTCCAA	0.378000													15	44					0	0	0.004990	0	0
IMPG2	50939	broad.mit.edu	37	3	100964655	100964655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:100964655C>T	ENST00000193391.7	-	12	1721	c.1534G>A	c.(1534-1536)Gta>Ata	p.V512I		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	512					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCATCTTCTACCAAGTGAGAT	0.433000													50	96					0	0	0.003610	0	0
SCG3	29106	broad.mit.edu	37	15	52005530	52005530	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:52005530G>A	ENST00000220478.3	+	11	1611	c.1207_splice	c.e11-1	p.G403_splice	RP11-313P18.1_ENST00000557891.1_RNA|SCG3_ENST00000542355.2_Splice_Site_p.G171_splice	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	403					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CCTCTTCCAGGAAAAACAGAA	0.348000													32	76					0	0	0.005524	0	0
UBN1	29855	broad.mit.edu	37	16	4927076	4927076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:4927076C>T	ENST00000396658.4	+	15	3932	c.3229C>T	c.(3229-3231)Cct>Tct	p.P1077S	UBN1_ENST00000545171.1_Missense_Mutation_p.P1077S|UBN1_ENST00000262376.6_Missense_Mutation_p.P1077S|UBN1_ENST00000590769.1_Missense_Mutation_p.P1077S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1077					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CGTCACAGGCCCTGCCCCCGG	0.582000													86	122					0	0	0.003610	0	0
PRB2	653247	broad.mit.edu	37	12	11546329	11546329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:11546329C>T	ENST00000389362.4	-	3	718	c.683G>A	c.(682-684)gGa>gAa	p.G228E	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)			CTTGTTGTCTCCTTGTGGGGG	0.612000													100	132					0	0	0.003610	0	0
DCAF13	25879	broad.mit.edu	37	8	104427482	104427482	+	Silent	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:104427482A>G	ENST00000297579.5	+	1	541	c.264A>G	c.(262-264)gaA>gaG	p.E88E		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	75					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAGCTAAAGAACCGCCCCTTG	0.652000													24	83					0	0	0.003330	0	0
ZAN	7455	broad.mit.edu	37	7	100333359	100333359	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:100333359G>A	ENST00000542585.1	+	0	218				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAAGCCTCCGGACCAGAAGCT	0.478000													10	12					0	0	0.000978	0	0
AMDHD1	144193	broad.mit.edu	37	12	96354389	96354389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:96354389G>A	ENST00000266736.2	+	5	907	c.801G>A	c.(799-801)atG>atA	p.M267I		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	267					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	p.M267I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TCCACCCGATGAAGGCTGCTG	0.418000													18	66					0	0	0.001882	0	0
RUNX1T1	862	broad.mit.edu	37	8	93003996	93003996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:93003996C>T	ENST00000523629.1	-	7	1316	c.862G>A	c.(862-864)Ggc>Agc	p.G288S	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.G299S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.G261S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.G251S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.G251S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.G288S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.G251S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.G261S	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)	288					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)			TGAGGCAGGCCATTGGGCTGG	0.557000													13	41					0	0	0.001855	0	0
TENM2	57451	broad.mit.edu	37	5	167626007	167626007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:167626007C>T	ENST00000519204.1	+	15	2805	c.2687C>T	c.(2686-2688)cCc>cTc	p.P896L	TENM2_ENST00000545108.1_Missense_Mutation_p.P1017L|TENM2_ENST00000518659.1_Missense_Mutation_p.P1017L|TENM2_ENST00000403607.2_Missense_Mutation_p.P841L|TENM2_ENST00000520394.1_Missense_Mutation_p.P785L					teneurin transmembrane protein 2																		AACTCCATCCCCAGCTGTGAC	0.587000													14	12					0	0	0.001855	0	0
DOCK3	1795	broad.mit.edu	37	3	51264821	51264821	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:51264821C>T	ENST00000266037.9	+	16	1508	c.1485C>T	c.(1483-1485)atC>atT	p.I495I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	495	DHR-1.					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)		AATTGCCTATCCCCATTGACC	0.493000													27	64					0	0	0.001271	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20868116	20868116	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:20868116C>T	ENST00000381552.1	+	6	941	c.573C>T	c.(571-573)ttC>ttT	p.F191F	SLCO1C1_ENST00000545102.1_Silent_p.F73F|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000266509.2_Silent_p.F191F|SLCO1C1_ENST00000545604.1_Silent_p.F191F			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	191					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)					TTTATGTTTTCCTGGGCAATC	0.398000													60	89					0	0	0.003610	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77324710	77324710	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:77324710C>T	ENST00000558012.1	+	11	1302	c.813C>T	c.(811-813)gcC>gcT	p.A271A	PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Silent_p.A271A|PSTPIP1_ENST00000267939.5_Silent_p.A270A|PSTPIP1_ENST00000559295.1_Silent_p.A271A	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	271					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TCATCCAGGCCAAGAGCACGG	0.657000													7	35					0	0	0.000443	0	0
ITIH5	80760	broad.mit.edu	37	10	7618458	7618458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:7618458C>T	ENST00000256861.6	-	10	2014	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	ITIH5_ENST00000397146.2_Missense_Mutation_p.E646K|ITIH5_ENST00000298441.6_Missense_Mutation_p.E432K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E646K|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.E428K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	646					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ACCACCGGTTCGGGTCCCATG	0.682000													5	14					0	0	0.001168	0	0
NLRP14	338323	broad.mit.edu	37	11	7064198	7064198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:7064198G>A	ENST00000299481.4	+	4	1287	c.941G>A	c.(940-942)aGa>aAa	p.R314K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	314	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACTTCTAAGAGACTAAAGCAG	0.418000													19	37					0	0	0.001216	0	0
PPP1R10	5514	broad.mit.edu	37	6	30571928	30571928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:30571928C>T	ENST00000376511.2	-	14	1917	c.1365G>A	c.(1363-1365)atG>atA	p.M455I		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	455	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCTTCTCCTCCATGTTATCAT	0.557000													57	94					0	0	0.003610	0	0
OR51I2	390064	broad.mit.edu	37	11	5475616	5475616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5475616C>T	ENST00000341449.2	+	1	979	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R300C(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGAAATCCGCCGAGCCAT	0.443000													70	76					0	0	0.003610	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414278	61414278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:61414278C>T	ENST00000395348.3	-	5	1142	c.506G>A	c.(505-507)gGa>gAa	p.G169E	SLC16A9_ENST00000395347.1_Missense_Mutation_p.G169E	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	169					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGCAAGCATCCATCCAGTCC	0.438000													27	71					0	0	0.001512	0	0
ALKBH6	84964	broad.mit.edu	37	19	36504285	36504285	+	Silent	SNP	G	G	A	rs148155004		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:36504285G>A	ENST00000486389.1	-	2	763	c.15C>T	c.(13-15)gaC>gaT	p.D5D	AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000485128.1_Silent_p.D5D|ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000378875.3_Silent_p.D33D|ALKBH6_ENST00000252984.7_Silent_p.D5D			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	5						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGACTCTGGCGTCCTGCTCCT	0.572000													44	53					0	0	0.003610	0	0
MXRA5	25878	broad.mit.edu	37	X	3248158	3248158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:3248158G>A	ENST00000217939.6	-	4	764	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	204						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)				GGCATGTTCCGAAGCATGCTG	0.463000													12	6					0	0	0.001368	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524132	24524132	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:24524132C>T	ENST00000376862.3	+	2	1032	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	133					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						ATGGGAAGTTCATTGACCTCT	0.587000													48	91					0	0	0.003610	0	0
LRIF1	55791	broad.mit.edu	37	1	111493978	111493978	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:111493978T>C	ENST00000369763.4	-	2	1918	c.1528A>G	c.(1528-1530)Ata>Gta	p.I510V	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GAGGAACTTATTTTCTCTATG	0.403000													43	104					0	0	0.003610	0	0
EFCAB6	64800	broad.mit.edu	37	22	43972186	43972186	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:43972186G>A	ENST00000262726.7	-	26	3664	c.3411C>T	c.(3409-3411)ttC>ttT	p.F1137F	EFCAB6_ENST00000396231.2_Silent_p.F985F	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1137					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)				CCTCCTCAAGGAAACAGCTAA	0.313000													27	51					0	0	0.001512	0	0
PLB1	151056	broad.mit.edu	37	2	28719005	28719005	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:28719005C>T	ENST00000422425.2	+	1	68	c.24C>T	c.(22-24)ttC>ttT	p.F8F	PLB1_ENST00000327757.5_Silent_p.F8F	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	8					lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGGCATTTTCCTCCTGGAGC	0.597000													23	55					0	0	0.003954	0	0
ABCA4	24	broad.mit.edu	37	1	94520762	94520762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:94520762C>T	ENST00000370225.3	-	16	2578	c.2492G>A	c.(2491-2493)gGg>gAg	p.G831E	ABCA4_ENST00000535735.1_Missense_Mutation_p.G757E	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	831					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GAATTCGTCCCCTTCCGTGGG	0.537000													4	66					0	0	0.000602	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762386	130762386	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:130762386G>A	ENST00000392429.1	+	2	3197	c.819G>A	c.(817-819)aaG>aaA	p.K273K	TMEM200A_ENST00000545622.1_Silent_p.K273K|TMEM200A_ENST00000296978.3_Silent_p.K273K	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	273						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCGGCTCTAAGAAATGTGAAA	0.438000													38	69					0	0	0.001951	0	0
CCR6	1235	broad.mit.edu	37	6	167549829	167549829	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:167549829C>T	ENST00000341935.5	+	3	663	c.111C>T	c.(109-111)tcC>tcT	p.S37S	CCR6_ENST00000400926.2_Silent_p.S37S|CCR6_ENST00000349984.4_Silent_p.S37S	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	37					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TACTGTGCTCCTTGCAGGAGG	0.433000													35	93					0	0	0.004289	0	0
UGT1A1	54658	broad.mit.edu	37	2	234678194	234678194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:234678194G>A	ENST00000360418.3	+	5	1322	c.1322G>A	c.(1321-1323)gGa>gAa	p.G441E	UGT1A1_ENST00000305208.5_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000406651.1_Missense_Mutation_p.G173E|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.G438E|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron			P22309	UD11_HUMAN		0					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CAGCAGTCAGGAAGACAGATG	0.507000													7	31					0	0	0.004482	0	0
CDH15	1013	broad.mit.edu	37	16	89249980	89249980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:89249980G>A	ENST00000289746.2	+	4	447	c.382G>A	c.(382-384)Gga>Aga	p.G128R	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	128	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCTGGACCTGGGAGGATCCAC	0.587000													16	32					0	0	0.001523	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858202	9858202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:9858202G>A	ENST00000396573.2	-	14	3508	c.3199C>T	c.(3199-3201)Cgg>Tgg	p.R1067W	GRIN2A_ENST00000535259.1_Missense_Mutation_p.R910W|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1067W|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1067W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1067W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1067W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1067					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	p.R1067W(1)		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)	CACGTGGCCCGATTTGACGTT	0.498000													66	93					0	0	0.003610	0	0
KLK12	43849	broad.mit.edu	37	19	51534143	51534143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:51534143G>A	ENST00000529888.1	-	4	307	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Silent_p.L164L|KLK12_ENST00000525263.1_Silent_p.L164L|KLK12_ENST00000250351.4_Silent_p.L164L|KLK12_ENST00000250352.11_Silent_p.L54L	NM_145895.1	NP_665902.1	Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	0	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		AGACGATGGAGAGGTTGAGGC	0.612000													22	104					0	0	0.005443	0	0
TSC1	7248	broad.mit.edu	37	9	135804225	135804225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:135804225G>A	ENST00000298552.3	-	3	256	c.35C>T	c.(34-36)gCc>gTc	p.A12V	TSC1_ENST00000545250.1_Missense_Mutation_p.A12V|TSC1_ENST00000440111.2_Missense_Mutation_p.A12V|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000403810.1_Missense_Mutation_p.A12V	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	12					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCCAGCATGGCAAGAAGCTC	0.507000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				28	17					0	0	0.001512	0	0
SLC26A7	115111	broad.mit.edu	37	8	92301414	92301414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:92301414G>A	ENST00000276609.3	+	3	483	c.244G>A	c.(244-246)Ggg>Agg	p.G82R	SLC26A7_ENST00000523719.1_Missense_Mutation_p.G82R|SLC26A7_ENST00000309536.2_Missense_Mutation_p.G82R	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	82						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGGTTTATATGGGTCTCTGTT	0.403000													54	96					0	0	0.003610	0	0
NHS	4810	broad.mit.edu	37	X	17710468	17710468	+	Silent	SNP	G	G	A	rs139131486		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:17710468G>A	ENST00000380060.3	+	3	1070	c.732G>A	c.(730-732)cgG>cgA	p.R244R	NHS_ENST00000398097.3_Silent_p.R67R	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	244						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACCGGAGCCGGAGCGATCGCC	0.522000													52	17					0	0	0.003610	0	0
GAS8	2622	broad.mit.edu	37	16	90097793	90097793	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:90097793C>T	ENST00000268699.4	+	3	299	c.177C>T	c.(175-177)atC>atT	p.I59I	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.I34I	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	59	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGGACAAGATCCACACCTTCT	0.622000													21	28					0	0	0.002780	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405836	106405836	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:106405836C>T	ENST00000390593.2	-	0	189																											AGACACTGTCCCCGGAGATGG	0.572000													21	30					0	0	0.001216	0	0
CACNA1S	779	broad.mit.edu	37	1	201035026	201035026	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:201035026G>A	ENST00000362061.3	-	22	3019	c.2793C>T	c.(2791-2793)atC>atT	p.I931I	CACNA1S_ENST00000367338.3_Silent_p.I931I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	931					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGACCAGCACGATGTTCCCGA	0.632000													18	26					0	0	0.001216	0	0
TTBK1	84630	broad.mit.edu	37	6	43214429	43214429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:43214429G>A	ENST00000259750.4	+	2	114	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	11						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCTTAAGGACGAAACCAACAT	0.667000													21	18					0	0	0.002780	0	0
SSH2	85464	broad.mit.edu	37	17	28120914	28120914	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:28120914C>T	ENST00000269033.3	-	2	256	c.105G>A	c.(103-105)agG>agA	p.R35R	SSH2_ENST00000540801.1_Silent_p.R62R	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	35					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						AAACATACCTCCTGGGCTGTG	0.338000													32	24					0	0	0.005524	0	0
HNF1A	6927	broad.mit.edu	37	12	121437168	121437168	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:121437168G>A	ENST00000257555.6	+	8	1825	c.1599G>A	c.(1597-1599)ctG>ctA	p.L533L	HNF1A_ENST00000544413.1_Silent_p.L533L|HNF1A_ENST00000541395.1_Silent_p.L533L			P20823	HNF1A_HUMAN	HNF1 homeobox A	533					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGAGCGCCCTGGCCAGCCTCA	0.677000									Hepatic Adenoma, Familial Clustering of				69	101					0	0	0.003610	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870614	51870614	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:51870614G>A	ENST00000371497.5	+	2	1504	c.617G>A	c.(616-618)gGg>gAg	p.G206E	TSHZ2_ENST00000603338.2_Missense_Mutation_p.G203E|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G203E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	206					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGATGTGCGGGACTGTGTTC	0.582000													21	36					0	0	0.002780	0	0
PARD3B	117583	broad.mit.edu	37	2	205986523	205986523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:205986523C>T	ENST00000406610.2	+	8	1222	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	PARD3B_ENST00000358768.2_Missense_Mutation_p.P339S|PARD3B_ENST00000462231.1_Missense_Mutation_p.P339S|PARD3B_ENST00000351153.1_Missense_Mutation_p.P339S|PARD3B_ENST00000349953.3_Missense_Mutation_p.P339S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	339					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AACCGATAGTCCTGAAACAGA	0.488000													22	25					0	0	0.003330	0	0
ZNF362	149076	broad.mit.edu	37	1	33741748	33741748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:33741748C>T	ENST00000539719.1	+	3	256	c.86C>T	c.(85-87)cCc>cTc	p.P29L	ZNF362_ENST00000373428.5_Missense_Mutation_p.P29L	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCCCTCCTCCCACCATGCCC	0.662000													24	62					0	0	0.002780	0	0
OR5D18	219438	broad.mit.edu	37	11	55587908	55587908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:55587908C>T	ENST00000333976.4	+	1	823	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCCAAAAACTCCAGGCACACA	0.507000													5	30					0	0	0.001168	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626440	1626440	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:1626440G>A	ENST00000421627.2	+	9	2243	c.2109G>A	c.(2107-2109)ctG>ctA	p.L703L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	782					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCTGGAGCTGGAGGGGTTCC	0.602000													17	33					0	0	0.004990	0	0
DMWD	1762	broad.mit.edu	37	19	46289452	46289452	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:46289452C>T	ENST00000270223.6	-	3	1347	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	DMWD_ENST00000377735.3_Silent_p.A434A	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	434					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGTCCTGGCCCGCCGAGCCAA	0.706000													5	7					0	0	0.000602	0	0
SLC38A4	55089	broad.mit.edu	37	12	47170749	47170749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	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													6	7					0	0	0.004482	0	0
ZMYM1	79830	broad.mit.edu	37	1	35580267	35580267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:35580267G>A	ENST00000373330.1	+	11	3010	c.2836G>A	c.(2836-2838)Gat>Aat	p.D946N	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.D946N			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	946						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAATCAGTAGATCTTGGCAA	0.274000													24	40					0	0	0.001786	0	0
PARM1	25849	broad.mit.edu	37	4	75937790	75937790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:75937790C>T	ENST00000307428.7	+	2	411	c.199C>T	c.(199-201)Cca>Tca	p.P67S	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	67					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CTCGGTGCTCCCAGTTACAGC	0.517000													27	16					0	0	0.003954	0	0
SPDYE4	388333	broad.mit.edu	37	17	8660636	8660636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:8660636C>T	ENST00000328794.6	-	2	460	c.284G>A	c.(283-285)cGa>cAa	p.R95Q		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	95										breast(1)|endometrium(2)|kidney(1)	4						TGCTCGCTTTCGCTTCAGCTT	0.597000													4	6					0	0	0.000602	0	0
TRIM72	493829	broad.mit.edu	37	16	31234238	31234238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:31234238G>A	ENST00000322122.3	+	6	1115	c.831G>A	c.(829-831)tgG>tgA	p.W277*		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	277	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						TCCAGGTGTGGAGGAAGATGT	0.597000													47	87					0	0	0.003610	0	0
NEO1	4756	broad.mit.edu	37	15	73562426	73562426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:73562426C>T	ENST00000339362.5	+	18	3017	c.2570C>T	c.(2569-2571)cCa>cTa	p.P857L	NEO1_ENST00000558964.1_Missense_Mutation_p.P857L|NEO1_ENST00000560262.1_Missense_Mutation_p.P857L|NEO1_ENST00000261908.6_Missense_Mutation_p.P857L			Q92859	NEO1_HUMAN	neogenin 1	857	Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ATGATGCCACCAGTGGGAGTT	0.458000													73	163					0	0	0.003610	0	0
SDK2	54549	broad.mit.edu	37	17	71354253	71354253	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:71354253G>A	ENST00000392650.3	-	40	5558	c.5558C>T	c.(5557-5559)cCc>cTc	p.P1853L	SDK2_ENST00000388726.3_Missense_Mutation_p.P1834L|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1853	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCGGGTGATGGGCCCTTTGCC	0.657000													69	116					0	0	0.003610	0	0
HTRA3	94031	broad.mit.edu	37	4	8293165	8293165	+	Silent	SNP	C	C	T	rs144431760		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:8293165C>T	ENST00000307358.2	+	4	981	c.777C>T	c.(775-777)atC>atT	p.I259I	HTRA3_ENST00000382512.3_Silent_p.I259I	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	259	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TGGTGGCCATCGGCAGTCCCT	0.622000													53	47					0	0	0.003610	0	0
RNF10	9921	broad.mit.edu	37	12	121000839	121000839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:121000839C>T	ENST00000325954.4	+	8	1681	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	RNF10_ENST00000413266.2_Missense_Mutation_p.P407L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	407					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGATGGCTCCCTTGGCGAAG	0.537000													26	36					0	0	0.003954	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30950960	30950960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:30950960G>A	ENST00000402321.1	-	3	1569	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R418C|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R418C|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R418C|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R418C|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R418C|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R418C			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	418				R -> L (in Ref. 1; AA sequence).	protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGGAAATCGCGAATGAACTTC	0.687000													14	25					0	0	0.003163	0	0
RP1	6101	broad.mit.edu	37	8	55541724	55541724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:55541724C>T	ENST00000220676.1	+	4	5430	c.5282C>T	c.(5281-5283)cCt>cTt	p.P1761L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1761					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)			TCTGAAAATCCTGGCATGTGT	0.433000													8	24					0	0	0.003080	0	0
SLC9A9	285195	broad.mit.edu	37	3	143292979	143292979	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:143292979G>A	ENST00000316549.6	-	8	1159	c.951C>T	c.(949-951)ttC>ttT	p.F317F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	317					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.L318fs*45(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AAGAAAGCAGGAAAAACAGGC	0.498000													17	33					0	0	0.001882	0	0
MXRA5	25878	broad.mit.edu	37	X	3241350	3241350	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:3241350C>T	ENST00000217939.6	-	5	2530	c.2376G>A	c.(2374-2376)ggG>ggA	p.G792G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	792						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)				GGAGATTTTTCCCACGGACTT	0.453000													19	12					0	0	0.001216	0	0
YAP1	10413	broad.mit.edu	37	11	102033193	102033193	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:102033193C>T	ENST00000282441.5	+	3	967	c.579C>T	c.(577-579)atC>atT	p.I193I	YAP1_ENST00000524575.1_Silent_p.I15I|YAP1_ENST00000526343.1_Silent_p.I193I|YAP1_ENST00000345877.2_Silent_p.I193I|YAP1_ENST00000537274.1_Silent_p.I193I|YAP1_ENST00000531439.1_Silent_p.I193I	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Yes-associated protein 1	193	WW 1.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TTAGTCACATCGATCAGACAA	0.473000													6	166					0	0	0.001168	0	0
RAI1	10743	broad.mit.edu	37	17	17699091	17699091	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:17699091G>A	ENST00000353383.1	+	3	3298	c.2829G>A	c.(2827-2829)gaG>gaA	p.E943E	RAI1_ENST00000261641.6_Silent_p.E943E	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	943						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCTGGTTTGAGTCCTCTCTGT	0.642000													17	12					0	0	0.000958	0	0
SLC14A2	8170	broad.mit.edu	37	18	43258960	43258960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:43258960G>A	ENST00000255226.6	+	19	3349	c.2533G>A	c.(2533-2535)Ggt>Agt	p.G845S	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.G322S|SLC14A2_ENST00000586448.1_Missense_Mutation_p.G845S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	845						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCCTACCTGGGTGCTGCCCT	0.438000													16	13					0	0	0.001216	0	0
RASAL2	9462	broad.mit.edu	37	1	178420757	178420757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:178420757C>T	ENST00000448150.3	+	10	2443	c.1625C>T	c.(1624-1626)cCc>cTc	p.P542L	RASAL2_ENST00000462775.1_Missense_Mutation_p.P412L|RASAL2_ENST00000367649.3_Missense_Mutation_p.P560L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	412					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GAAGTGGATCCCAGCAAATGT	0.423000													50	44					0	0	0.003610	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73181857	73181857	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:73181857C>T	ENST00000545377.1	+	25	3414	c.3238C>T	c.(3238-3240)Ctg>Ttg	p.L1080L	ARHGEF28_ENST00000287898.5_Silent_p.L1080L|ARHGEF28_ENST00000426542.2_Silent_p.L1080L|ARHGEF28_ENST00000512883.1_Silent_p.L44L|ARHGEF28_ENST00000513042.2_Silent_p.L1080L|ARHGEF28_ENST00000296799.4_Silent_p.L767L|ARHGEF28_ENST00000296794.6_Silent_p.L1080L|ARHGEF28_ENST00000437974.1_Silent_p.L1080L	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		GAAGCAGGCACTGATGAGTGA	0.383000													21	24					0	0	0.001216	0	0
MIR521-2	574481	broad.mit.edu	37	19	54219879	54219879	+	RNA	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54219879T>A	ENST00000384818.1	+	0	32					NR_030203.1																						AGGGAAGAATTTTCTCTTGTC	0.413000													74	102					0	0	0.003610	0	0
PRKCI	5584	broad.mit.edu	37	3	169977775	169977775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:169977775C>T	ENST00000295797.4	+	3	547	c.242C>T	c.(241-243)tCa>tTa	p.S81L		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	81	Interaction with PARD6A.|OPR.|Regulatory domain.				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)			TGTACAGTATCATCTCAGTTG	0.338000													32	58					0	0	0.001485	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763495	92763495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:92763495C>T	ENST00000318238.4	-	5	3006	c.1790G>A	c.(1789-1791)aGa>aAa	p.R597K	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R597K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R597K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	597										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATCTTCATTCTTGTTTGTAG	0.348000													28	54					0	0	0.005443	0	0
CASP10	843	broad.mit.edu	37	2	202074097	202074097	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:202074097C>T	ENST00000286186.6	+	9	1662	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S	CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000272879.5_Silent_p.S409S|CASP10_ENST00000448480.1_Silent_p.S366S|CASP10_ENST00000346817.5_Silent_p.S366S|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Silent_p.S342S	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	409					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TACAGCCTTCCGTATCCATCG	0.532000													15	52					0	0	0.004007	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152222712	152222712	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:152222712C>T	ENST00000243347.3	+	3	450	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	125	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		GATGGGATGCCTATTGCTACA	0.388000													10	57					0	0	0.000673	0	0
TCIRG1	10312	broad.mit.edu	37	11	67811694	67811694	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:67811694C>T	ENST00000265686.3	+	9	1011	c.903C>T	c.(901-903)gcC>gcT	p.A301A	TCIRG1_ENST00000532635.1_Silent_p.A85A	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	301					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						AGATGAAGGCCGTGTACCTGG	0.672000													4	5					0	0	0.000248	0	0
PRKCQ	5588	broad.mit.edu	37	10	6470206	6470206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:6470206G>A	ENST00000263125.5	-	18	2183	c.2084C>T	c.(2083-2085)tCc>tTc	p.S695F	PRKCQ_ENST00000539722.1_Missense_Mutation_p.S570F|PRKCQ_ENST00000397176.2_Missense_Mutation_p.S632F	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	695	AGC-kinase C-terminal.				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						GTTCATGAAGGAAAAGTTCCT	0.488000													47	110					0	0	0.003610	0	0
EDEM3	80267	broad.mit.edu	37	1	184663275	184663275	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:184663275G>A	ENST00000318130.8	-	20	2987	c.2721C>T	c.(2719-2721)gtC>gtT	p.V907V	EDEM3_ENST00000367512.3_Silent_p.V880V	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	907					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTATAGGCTGGACCTTTTTAC	0.373000													17	14					0	0	0.004007	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013189	149013189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:149013189G>A	ENST00000535454.1	+	4	692	c.143G>A	c.(142-144)gGa>gAa	p.G48E	MAGEA8_ENST00000542674.1_Missense_Mutation_p.G48E|MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000286482.1_Missense_Mutation_p.G48E	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	48										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATCATGGGAACCCTTGAG	0.587000													16	4					0	0	0.004990	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306962	2306962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:2306962G>A	ENST00000290974.2	-	8	1444	c.1105C>T	c.(1105-1107)Cca>Tca	p.P369S	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.P339S|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.P299S	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	369					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CTGTGAGCTGGGGACTGGCAG	0.672000													43	27					0	0	0.002222	0	0
KAT6B	23522	broad.mit.edu	37	10	76719728	76719728	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:76719728C>T	ENST00000287239.4	+	4	1111	c.621_splice	c.e4-1	p.P208_splice	KAT6B_ENST00000372724.1_Splice_Site_p.P208_splice|KAT6B_ENST00000372725.1_Splice_Site_p.P208_splice|KAT6B_ENST00000372711.1_Splice_Site_p.P208_splice|KAT6B_ENST00000372714.1_Splice_Site_p.P208_splice	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	208					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TTTGTCATAGCCCCGTGCTGA	0.333000													21	70					0	0	0.003954	0	0
LILRB5	10990	broad.mit.edu	37	19	54759988	54759988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54759988C>T	ENST00000450632.1	-	4	623	c.546G>A	c.(544-546)tgG>tgA	p.W182*	LILRB5_ENST00000449561.2_Nonsense_Mutation_p.W191*|LILRB5_ENST00000316219.5_Nonsense_Mutation_p.W191*|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	191	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATCTGAACCTCCACCTGCAGC	0.567000													14	51					0	0	0.004007	0	0
SLU7	10569	broad.mit.edu	37	5	159840982	159840982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:159840982G>A	ENST00000297151.4	-	4	716	c.329C>T	c.(328-330)tCc>tTc	p.S110F		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	110					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)			AGTAATTATGGAATTCTATAA	0.313000													7	29					0	0	0.001984	0	0
ZAN	7455	broad.mit.edu	37	7	100388681	100388681	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:100388681C>T	ENST00000542585.1	+	0	7620				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCTCAACACCTTTGGCAAC	0.592000													9	17					0	0	0.001368	0	0
SRD5A1	6715	broad.mit.edu	37	5	6652030	6652030	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:6652030C>T	ENST00000274192.5	+	2	603	c.369C>T	c.(367-369)ttC>ttT	p.F123F	SRD5A1_ENST00000504286.1_3'UTR|SRD5A1_ENST00000537411.1_3'UTR|SRD5A1_ENST00000538824.1_Intron	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	123					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	CGATTATGTTCTGTACCTGTA	0.448000													15	63					0	0	0.006122	0	0
PPOX	5498	broad.mit.edu	37	1	161140245	161140245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:161140245G>A	ENST00000367999.4	+	10	1300	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Missense_Mutation_p.G345E|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Missense_Mutation_p.G90E	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	345					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGAGTCCTGGGAATCGTGTAT	0.537000													24	121					0	0	0.001786	0	0
C6orf165	154313	broad.mit.edu	37	6	88173910	88173910	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:88173910A>G	ENST00000507897.1	+	13	1894	c.1811A>G	c.(1810-1812)aAg>aGg	p.K604R	C6orf165_ENST00000506888.1_3'UTR|C6ORF165_ENST00000369562.4_Missense_Mutation_p.K604R			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	604										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)		CGTGGAGGAAAGAGCGAAATC	0.463000													6	28					0	0	0.001984	0	0
ELMO1	9844	broad.mit.edu	37	7	37382274	37382274	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:37382274G>A	ENST00000310758.4	-	2	668	c.21C>T	c.(19-21)atC>atT	p.I7I	ELMO1_ENST00000442504.1_Silent_p.I7I|ELMO1_ENST00000448602.1_Silent_p.I7I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	7					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCACCTTGACGATGTCCGCGG	0.498000													58	130					0	0	0.003610	0	0
ITGAX	3687	broad.mit.edu	37	16	31374393	31374393	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:31374393G>A	ENST00000268296.4	+	13	1618	c.1497G>A	c.(1495-1497)agG>agA	p.R499R	ITGAX_ENST00000562522.1_Silent_p.R499R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	499					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCTTGCCCAGGGGGGTGAGTG	0.657000													22	28					0	0	0.005443	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643778	37643778	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:37643778G>A	ENST00000356958.4	-	5	1281	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	ZNF585A_ENST00000292841.5_Silent_p.L286L|ZNF585A_ENST00000392157.2_Silent_p.L286L|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Silent_p.L286L			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGTGTAACGAGGTTGGAAT	0.398000													45	72					0	0	0.002852	0	0
HTR3B	9177	broad.mit.edu	37	11	113803757	113803757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:113803757C>T	ENST00000260191.2	+	6	895	c.638C>T	c.(637-639)tCc>tTc	p.S213F	HTR3B_ENST00000537778.1_Missense_Mutation_p.S202F	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	213					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)		CTATCTGTGTCCTCCACATAC	0.498000													12	16					0	0	0.001855	0	0
BRWD1	54014	broad.mit.edu	37	21	40665885	40665885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:40665885G>A	ENST00000342449.3	-	8	761	c.683C>T	c.(682-684)tCt>tTt	p.S228F	BRWD1_ENST00000380800.3_Missense_Mutation_p.S228F|BRWD1_ENST00000333229.2_Missense_Mutation_p.S228F	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AATTTCTGCAGAATGACCTCT	0.363000													19	36					0	0	0.000958	0	0
HCAR3	8843	broad.mit.edu	37	12	123201117	123201117	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:123201117G>A	ENST00000528880.2	-	1	322	c.168C>T	c.(166-168)ctC>ctT	p.L56L	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	56						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	TCCAGGACTTGAGGTGGAAAC	0.522000													5	35					0	0	0.001168	0	0
TANC2	26115	broad.mit.edu	37	17	61432354	61432354	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:61432354C>T	ENST00000424789.2	+	12	1967	c.1963C>T	c.(1963-1965)Cta>Tta	p.L655L	TANC2_ENST00000389520.4_Silent_p.L655L	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	655							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGGGTCCTATCTATATCTGAA	0.383000													41	76					0	0	0.002522	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168834	60168834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:60168834G>A	ENST00000261187.4	+	4	922	c.758G>A	c.(757-759)gGa>gAa	p.G253E	SLC16A7_ENST00000552432.1_Missense_Mutation_p.G253E|SLC16A7_ENST00000552024.1_Missense_Mutation_p.G253E|SLC16A7_ENST00000543448.1_Missense_Mutation_p.G154E|SLC16A7_ENST00000547379.1_Missense_Mutation_p.G253E	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	253						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TATCTGTCTGGAAATGTCATT	0.348000													10	21					0	0	0.000673	0	0
ILDR1	286676	broad.mit.edu	37	3	121712217	121712217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:121712217C>T	ENST00000273691.3	-	6	1352	c.1247G>A	c.(1246-1248)gGg>gAg	p.G416E	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.G428E|ILDR1_ENST00000344209.5_Missense_Mutation_p.G460E|ILDR1_ENST00000393631.1_Missense_Mutation_p.G371E	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	460						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCGTCGTCTCCCGTGCCTCTG	0.692000													8	11					0	0	0.003080	0	0
NEB	4703	broad.mit.edu	37	2	152527573	152527573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:152527573C>T	ENST00000397345.3	-	38	4672	c.4470G>A	c.(4468-4470)atG>atA	p.M1490I	NEB_ENST00000604864.1_Missense_Mutation_p.M1490I|NEB_ENST00000172853.10_Missense_Mutation_p.M1490I|NEB_ENST00000603639.1_Missense_Mutation_p.M1490I|NEB_ENST00000409198.1_Missense_Mutation_p.M1490I|NEB_ENST00000427231.2_Missense_Mutation_p.M1490I	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1490					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)		GAGCCAACACCATGCCCATGG	0.478000													7	39					0	0	0.000978	0	0
MXRA5	25878	broad.mit.edu	37	X	3229527	3229527	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:3229527C>T	ENST00000217939.6	-	7	6871	c.6717G>A	c.(6715-6717)gtG>gtA	p.V2239V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2239	Ig-like C2-type 6.					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)				CCGGTTTCATCACCACATCCA	0.517000													46	19					0	0	0.003610	0	0
SRL	6345	broad.mit.edu	37	16	4242630	4242630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:4242630C>T	ENST00000399609.3	-	6	958	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	SRL_ENST00000537996.1_Missense_Mutation_p.E274K	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	775	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTCAGGTCTTCTAGGAGGGAG	0.562000													50	115					0	0	0.003610	0	0
FER1L5	90342	broad.mit.edu	37	2	97361226	97361226	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:97361226C>T	ENST00000457909.1	+	0	3225							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TTGTCCTGCCCTCCTTCTTTG	0.637000													3	3					0	0	0.004672	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30688391	30688391	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:30688391G>A	ENST00000215790.7	-	9	1664	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Silent_p.S507S|TBC1D10A_ENST00000403362.1_Silent_p.S412S	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	500						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACTCTCTTGGGACGTCAAGC	0.587000													75	148					0	0	0.003610	0	0
OR52L1	338751	broad.mit.edu	37	11	6007616	6007616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:6007616C>T	ENST00000332249.4	-	1	599	c.545G>A	c.(544-546)gGa>gAa	p.G182E		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATAAGTTTTCCCAACAAAAT	0.493000													22	38					0	0	0.001882	0	0
PEX5	5830	broad.mit.edu	37	12	7362674	7362674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:7362674C>T	ENST00000266563.5	+	15	1847	c.1664C>T	c.(1663-1665)cCc>cTc	p.P555L	PEX5_ENST00000412720.2_Missense_Mutation_p.P613L|PEX5_ENST00000420616.2_Missense_Mutation_p.P592L|PEX5_ENST00000266564.3_Missense_Mutation_p.P584L|PEX5_ENST00000455147.2_Missense_Mutation_p.P592L|PEX5_ENST00000434354.2_Missense_Mutation_p.P607L	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	592					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	p.P584L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						AGCCGGGGCCCCCGGGGTGAA	0.572000													9	17					0	0	0.000443	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75816846	75816846	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:75816846T>A	ENST00000320460.4	+	4	755	c.747T>A	c.(745-747)ttT>ttA	p.F249L	GLIPR1L2_ENST00000378692.3_Intron|GLIPR1L2_ENST00000550916.1_Intron|GLIPR1L2_ENST00000435775.1_Intron|GLIPR1L2_ENST00000441218.1_Intron	NM_152436.2	NP_689649.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	0						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						ACACTAGTTTTTTATGGTCAT	0.289000													6	30					0	0	0.001168	0	0
FREM1	158326	broad.mit.edu	37	9	14859208	14859208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:14859208G>A	ENST00000380881.4	-	5	1419	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	FREM1_ENST00000422223.2_Nonsense_Mutation_p.Q202*|FREM1_ENST00000380880.3_Nonsense_Mutation_p.Q202*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	202					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.Q202*(1)		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)		CTGTGTGGCTGATCTCCACGA	0.517000													16	21					0	0	0.006122	0	0
TRPV6	55503	broad.mit.edu	37	7	142574331	142574331	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142574331T>A	ENST00000359396.3	-	6	837	c.592A>T	c.(592-594)Aca>Tca	p.T198S	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	198					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGTAACACTGTGTTTCCTGGG	0.567000													33	62					0	0	0.005524	0	0
LOC284009	284009	broad.mit.edu	37	17	2317704	2317704	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:2317704G>A	ENST00000571332.1	-	0	959					NR_028335.1																						gcaaggaatggaactggacgg	0.517000													25	33					0	0	0.001061	0	0
SPINK5	11005	broad.mit.edu	37	5	147449948	147449948	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:147449948G>A	ENST00000359874.3	+	3	217	c.144G>A	c.(142-144)aaG>aaA	p.K48K	SPINK5_ENST00000398454.1_Silent_p.K48K|SPINK5_ENST00000256084.7_Silent_p.K48K	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	48	Kazal-like 1; atypical.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGGATAAGAAATTTTTTC	0.323000													6	7					0	0	0.001984	0	0
COL11A1	1301	broad.mit.edu	37	1	103491503	103491503	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:103491503C>T	ENST00000358392.2	-	6	1103	c.786G>A	c.(784-786)aaG>aaA	p.K262K	COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	262	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)		AATTGGATTTCTTTTTCTGTA	0.338000													38	85					0	0	0.004289	0	0
OSCAR	126014	broad.mit.edu	37	19	54600214	54600214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54600214C>T	ENST00000284648.6	-	4	505	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	OSCAR_ENST00000358375.4_Missense_Mutation_p.R103Q|OSCAR_ENST00000391760.1_Silent_p.P45P|OSCAR_ENST00000391761.1_Missense_Mutation_p.R92Q|OSCAR_ENST00000359649.4_Missense_Mutation_p.R107Q|OSCAR_ENST00000356532.3_Missense_Mutation_p.R107Q|OSCAR_ENST00000351806.4_Missense_Mutation_p.R92Q			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	103	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GTCTGGCCTTCGGTAGCAGCA	0.632000													7	31					0	0	0.003080	0	0
TEX11	56159	broad.mit.edu	37	X	69849514	69849514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:69849514C>T	ENST00000395889.2	-	19	1755	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	TEX11_ENST00000344304.3_Missense_Mutation_p.E534K|TEX11_ENST00000374333.2_Missense_Mutation_p.E519K|TEX11_ENST00000374320.2_Missense_Mutation_p.E209K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	534							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GAACCTCTCTCTGCAACTAGA	0.328000													49	27					0	0	0.003610	0	0
ZEB1	6935	broad.mit.edu	37	10	31816025	31816025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:31816025G>A	ENST00000446923.2	+	9	3551	c.3160G>A	c.(3160-3162)Gaa>Aaa	p.E1054K	ZEB1_ENST00000320985.10_Missense_Mutation_p.E1070K|ZEB1_ENST00000361642.5_Missense_Mutation_p.E1071K|ZEB1_ENST00000560721.2_Missense_Mutation_p.E1050K|ZEB1_ENST00000542815.3_Missense_Mutation_p.E1003K	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1070	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ggaggaggaggaagaagtgga	0.448000													3	3					0	0	0.004672	0	0
FAS	355	broad.mit.edu	37	10	90770295	90770295	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:90770295G>A	ENST00000355740.2	+	5	663		c.e5-1		FAS_ENST00000355279.2_Splice_Site|FAS_ENST00000352159.4_Splice_Site|FAS_ENST00000357339.2_Splice_Site|FAS_ENST00000313771.5_Splice_Site	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor						activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TTTTTTTCTAGATGTGAACAT	0.348000													3	5					0	0	0.000248	0	0
DNAH8	1769	broad.mit.edu	37	6	38749134	38749134	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:38749134C>T	ENST00000359357.3	+	14	1847	c.1593C>T	c.(1591-1593)ccC>ccT	p.P531P	DNAH8_ENST00000441566.1_Silent_p.P531P|DNAH8_ENST00000449981.2_Silent_p.P748P					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						TAAGTGAGCCCATCAATTATT	0.373000													8	29					0	0	0.000443	0	0
FAM200A	221786	broad.mit.edu	37	7	99145993	99145993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:99145993G>A	ENST00000449309.1	-	2	417	c.38C>T	c.(37-39)cCa>cTa	p.P13L		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	13						integral to membrane	nucleic acid binding			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						GGTACCCCCTGGAGACAAATC	0.458000													36	70					0	0	0.001706	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616176	140616176	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140616176G>A	ENST00000526308.1	+	0	2239					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGCCCAGGCCGACTCCCTCAC	0.687000													16	66					0	0	0.004990	0	0
LTF	4057	broad.mit.edu	37	3	46496877	46496877	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:46496877G>A	ENST00000231751.4	-	5	850	c.555C>T	c.(553-555)ttC>ttT	p.F185F	LTF_ENST00000417439.1_Silent_p.F185F|LTF_ENST00000426532.2_Silent_p.F141F	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	185	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ACAGGTTGGGGAACTGTCCTT	0.552000													22	35					0	0	0.002299	0	0
DNAH2	146754	broad.mit.edu	37	17	7695641	7695641	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:7695641G>A	ENST00000572933.1	+	46	8585	c.7125G>A	c.(7123-7125)aaG>aaA	p.K2375K	DNAH2_ENST00000389173.2_Silent_p.K2375K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2375					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)				AGCTCCCTAAGAGTTGGCGCT	0.542000													36	27					0	0	0.002222	0	0
ALLC	55821	broad.mit.edu	37	2	3726125	3726125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:3726125C>T	ENST00000252505.3	+	4	314	c.152C>T	c.(151-153)aCc>aTc	p.T51I		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	70							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGCTGGGAGACCAGGAGGAAA	0.483000										HNSCC(21;0.051)			14	20					0	0	0.002450	0	0
KIF19	124602	broad.mit.edu	37	17	72350632	72350632	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:72350632G>A	ENST00000389916.4	+	18	2778	c.2640G>A	c.(2638-2640)agG>agA	p.R880R		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	880					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAAGAAAAGGGAGGAGTCGC	0.677000													5	12					0	0	0.001984	0	0
PHF12	57649	broad.mit.edu	37	17	27240100	27240100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:27240100G>A	ENST00000577226.1	-	9	1835	c.1489C>T	c.(1489-1491)Ccc>Tcc	p.P497S	PHF12_ENST00000268756.3_Missense_Mutation_p.P497S|PHF12_ENST00000332830.4_Missense_Mutation_p.P497S|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	497	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATCCCTGAGGGGCAGGACAAG	0.547000													32	41					0	0	0.003271	0	0
PTPN7	5778	broad.mit.edu	37	1	202128567	202128567	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:202128567C>T	ENST00000309017.3	-	2	1052	c.279G>A	c.(277-279)ctG>ctA	p.L93L	PTPN7_ENST00000308986.5_5'UTR|PTPN7_ENST00000367279.4_Silent_p.L27L|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000543735.1_5'UTR	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	0						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GAGGCTCACTCAGCCATGAGG	0.647000													38	29					0	0	0.004878	0	0
MYH13	8735	broad.mit.edu	37	17	10267752	10267752	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:10267752G>A	ENST00000418404.3	-	2	259	c.96C>T	c.(94-96)ttC>ttT	p.F32F	MYH13_ENST00000252172.4_Silent_p.F32F|MYH13_ENST00000570743.1_Silent_p.F32F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	32	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						TCTTGGAATCGAATGGACGAT	0.463000													12	16					0	0	0.002450	0	0
DHX29	54505	broad.mit.edu	37	5	54557275	54557275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:54557275G>A	ENST00000251636.5	-	25	4029	c.3881C>T	c.(3880-3882)cCa>cTa	p.P1294L	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1294							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AAGTAAAACTGGAAAAGGGGT	0.353000													19	78					0	0	0.002299	0	0
LST3	0	broad.mit.edu	37	12	21205068	21205068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:21205068C>T	ENST00000381541.3	+	10	1435	c.1370C>T	c.(1369-1371)tCt>tTt	p.S457F	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S457F|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.S410F|SLCO1B3_ENST00000553473.1_Intron																							GTACCACTTTCTTATTGCAAC	0.368000													4	3					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179577159	179577159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179577159C>T	ENST00000589042.1	-	95	27714	c.27490G>A	c.(27490-27492)Gaa>Aaa	p.E9164K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8847K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7920K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8847	Ig-like 74.						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)			GCCGATTTTTCAGTCGTAGTT	0.423000													14	31					0	0	0.001855	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715781	13715781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:13715781G>A	ENST00000279593.3	-	13	4600	c.4391C>T	c.(4390-4392)gCt>gTt	p.A1464V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1464					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCATTGAAAGCCCTGGGGTT	0.522000													51	68					0	0	0.003610	0	0
ARHGAP6	395	broad.mit.edu	37	X	11204449	11204449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:11204449C>T	ENST00000337414.4	-	5	2052	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.E191K|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.E426K|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.E219K|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.E191K|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.E394K|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.E203K	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	394					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGGCTTTTTCCTTTTTACTT	0.438000													53	23					0	0	0.003610	0	0
CACNG2	10369	broad.mit.edu	37	22	36960624	36960624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:36960624G>A	ENST00000300105.6	-	4	1727	c.746C>T	c.(745-747)tCc>tTc	p.S249F		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	249					membrane depolarization|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	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GGCGTCCCTGGAGTGTGAGGG	0.682000													40	70					0	0	0.002852	0	0
ENAM	10117	broad.mit.edu	37	4	71507864	71507864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:71507864G>A	ENST00000396073.3	+	9	1002	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	241					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)			TCCAGGCACAGAACCCACAGC	0.448000													62	42					0	0	0.003610	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927395	92927395	+	Silent	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:92927395A>G	ENST00000373079.3	-	1	1172	c.909T>C	c.(907-909)ccT>ccC	p.P303P	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	303					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						CTTCTCTTTTAGGCTTTCCCT	0.438000													28	20					0	0	0.001061	0	0
CILP2	148113	broad.mit.edu	37	19	19654632	19654632	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:19654632C>T	ENST00000586018.1	+	8	1398	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	CILP2_ENST00000291495.4_Silent_p.S426S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	426						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGGCAGGCTCCAGCCCCCGCT	0.672000													9	35					0	0	0.004482	0	0
OR10R2	343406	broad.mit.edu	37	1	158450082	158450082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158450082G>A	ENST00000368152.1	+	1	415	c.415G>A	c.(415-417)Ggt>Agt	p.G139S	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGGTGTGATGGGTTATGATCG	0.488000													38	148					0	0	0.002522	0	0
FREM2	341640	broad.mit.edu	37	13	39264404	39264404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:39264404G>A	ENST00000280481.7	+	1	3139	c.2923G>A	c.(2923-2925)Gaa>Aaa	p.E975K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	975					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)		GACCAATGAGGAAACTGATGA	0.443000													8	67					0	0	0.004482	0	0
HK3	3101	broad.mit.edu	37	5	176309021	176309021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:176309021C>T	ENST00000292432.5	-	16	2252	c.2161G>A	c.(2161-2163)Gat>Aat	p.D721N		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	721	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAGCCATCGTCCCCAAAG	0.642000													7	61					0	0	0.001984	0	0
ROBO1	6091	broad.mit.edu	37	3	79639024	79639024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:79639024G>A	ENST00000464233.1	-	2	151	c.38C>T	c.(37-39)tCa>tTa	p.S13L		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	13					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)		GCTGAGGAGTGATATCATGAC	0.413000													5	12					0	0	0.001168	0	0
KCNH7	90134	broad.mit.edu	37	2	163236489	163236489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:163236489G>A	ENST00000332142.5	-	14	3104	c.3005C>T	c.(3004-3006)cCc>cTc	p.P1002L		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1002					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTCAGGCTGGGGATGTGCATT	0.493000													35	46					0	0	0.005524	0	0
NCOA1	8648	broad.mit.edu	37	2	24929502	24929502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:24929502C>T	ENST00000405141.1	+	14	1874	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L	NCOA1_ENST00000395856.3_Missense_Mutation_p.P388L|NCOA1_ENST00000406961.1_Missense_Mutation_p.P388L|NCOA1_ENST00000407230.1_Missense_Mutation_p.P237L|NCOA1_ENST00000348332.3_Missense_Mutation_p.P388L|NCOA1_ENST00000538539.1_Missense_Mutation_p.P388L|NCOA1_ENST00000288599.5_Missense_Mutation_p.P388L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	388	Interaction with STAT3.								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)					CGAGTAAATCCCTCGGTCAAT	0.463000			T	PAX3	alveolar rhadomyosarcoma								12	41					0	0	0.003163	0	0
ATXN2	6311	broad.mit.edu	37	12	111895157	111895157	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:111895157G>C	ENST00000377617.3	-	22	3538	c.3377C>G	c.(3376-3378)aCg>aGg	p.T1126R	ATXN2_ENST00000542287.2_Missense_Mutation_p.T861R|ATXN2_ENST00000535949.1_Missense_Mutation_p.T819R|ATXN2_ENST00000389153.4_Missense_Mutation_p.T863R|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1126					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AAGGGAGCCCGTGGAAACTAA	0.512000													12	43					0	0	0.002450	0	0
MX1	4599	broad.mit.edu	37	21	42824749	42824749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:42824749G>A	ENST00000398600.2	+	18	2736	c.1711G>A	c.(1711-1713)Gac>Aac	p.D571N	MX1_ENST00000398598.3_Missense_Mutation_p.D571N|MX1_ENST00000288383.6_Missense_Mutation_p.D548N|MX1_ENST00000455164.2_Missense_Mutation_p.D571N	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	571					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CTCGGCAACAGACTCTTCCAT	0.498000													10	182					0	0	0.000978	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857375	140857375	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140857375C>T	ENST00000308177.3	+	1	1796	c.1692C>T	c.(1690-1692)gcC>gcT	p.A564A	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAATGCCCCCCAGGTCC	0.572000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	24					0	0	0.001216	0	0
ANAPC1	64682	broad.mit.edu	37	2	112621464	112621464	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:112621464A>T	ENST00000341068.3	-	9	1612	c.840T>A	c.(838-840)aaT>aaA	p.N280K		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	280					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTAAAACAACATTCTCTTCCT	0.393000													18	14					0	0	0.006122	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228399	140228399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140228399G>A	ENST00000378122.3	+	1	1043	c.319G>A	c.(319-321)Gag>Aag	p.E107K	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.E107K|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACCTGGAGGTGATCGT	0.547000													18	137					0	0	0.000958	0	0
MED13	9969	broad.mit.edu	37	17	60030366	60030366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:60030366G>A	ENST00000397786.2	-	27	6153	c.6077C>T	c.(6076-6078)tCt>tTt	p.S2026F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2026					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						AGATCCTGGAGAATGTACAGG	0.458000													47	86					0	0	0.003610	0	0
PATL1	219988	broad.mit.edu	37	11	59423511	59423511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:59423511G>A	ENST00000300146.9	-	7	815	c.731C>T	c.(730-732)tCc>tTc	p.S244F		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	244	Pro-rich.|Region N; interaction with decapping machinery.				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						ACCCAGGAGGGAAGAGTTCTA	0.428000													5	2					0	0	0.001168	0	0
TMEM37	140738	broad.mit.edu	37	2	120194569	120194569	+	Silent	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:120194569G>T	ENST00000306406.4	+	2	161	c.126G>T	c.(124-126)tcG>tcT	p.S42S	TMEM37_ENST00000409826.1_Silent_p.S54S|TMEM37_ENST00000465296.1_3'UTR	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	42						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TCCTGTCCTCGGTCTCCATTT	0.607000													5	100					0.00307968	0.00636781	0.003080	1	0
PCDHA6	56142	broad.mit.edu	37	5	140207705	140207705	+	Missense_Mutation	SNP	G	G	A	rs17844300		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140207705G>A	ENST00000529310.1	+	1	143	c.29G>A	c.(28-30)gGa>gAa	p.G10E	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G10E|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	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)			GATAGATTGGGAAAGCAATGT	0.512000													25	135					0	0	0.001061	0	0
EHD1	10938	broad.mit.edu	37	11	64621904	64621904	+	Silent	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:64621904C>A	ENST00000320631.3	-	5	1760	c.1506G>T	c.(1504-1506)gcG>gcT	p.A502A	EHD1_ENST00000359393.2_Silent_p.A502A|EHD1_ENST00000488711.1_5'UTR	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	502	EF-hand.|EH.				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GGTTGGCCAGCGCGAACTCCT	0.637000													9	25					2.74318e-10	5.72705e-10	0.000443	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147926772	147926772	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:147926772C>T	ENST00000361727.3	+	20	3798	c.3282C>T	c.(3280-3282)acC>acT	p.T1094T	CNTNAP2_ENST00000538075.1_Silent_p.T153T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1094	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)			TGGGTGGCACCCGAGAGCCAT	0.453000										HNSCC(39;0.1)			17	27					0	0	0.004990	0	0
CARD11	84433	broad.mit.edu	37	7	2959017	2959017	+	Silent	SNP	G	G	A	rs150171618		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:2959017G>A	ENST00000396946.4	-	18	2902	c.2499C>T	c.(2497-2499)ccC>ccT	p.P833P		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	833					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCTGTAGCTGGGTATGGTGC	0.612000			Mis		DLBCL								26	41					0	0	0.001271	0	0
POLDIP3	84271	broad.mit.edu	37	22	42988046	42988046	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:42988046G>A	ENST00000252115.5	-	7	1040	c.936C>T	c.(934-936)gtC>gtT	p.V312V	POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Silent_p.V283V|POLDIP3_ENST00000451060.2_Silent_p.V156V|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	312	RRM.				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CCCCAGGATGGACCAGTCGAG	0.542000													35	91					0	0	0.001706	0	0
SORCS2	57537	broad.mit.edu	37	4	7725580	7725580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:7725580G>A	ENST00000507866.2	+	19	2690	c.2581G>A	c.(2581-2583)Gat>Aat	p.D861N	SORCS2_ENST00000329016.9_Missense_Mutation_p.D689N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	861	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGCAGGCCACGATGAGGCGGT	0.587000													20	51					0	0	0.001882	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756535	94756535	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:94756535G>A	ENST00000554723.1	-	2	934	c.516C>T	c.(514-516)gcC>gcT	p.A172A	SERPINA10_ENST00000554173.1_Silent_p.A132A|SERPINA10_ENST00000393096.1_Silent_p.A132A|SERPINA10_ENST00000261994.4_Silent_p.A132A			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	132					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)		TGGGCTTCAGGGCCTGCAAGT	0.597000													33	39					0	0	0.003755	0	0
RYR1	6261	broad.mit.edu	37	19	38959762	38959762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:38959762G>A	ENST00000355481.4	+	26	3669	c.3538G>A	c.(3538-3540)Gag>Aag	p.E1180K	RYR1_ENST00000359596.3_Missense_Mutation_p.E1180K|RYR1_ENST00000360985.3_Missense_Mutation_p.E1180K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1180	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCCTTCCGGGAGATTGAGAT	0.542000													17	46					0	0	0.001882	0	0
MAPK13	5603	broad.mit.edu	37	6	36106731	36106731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:36106731C>T	ENST00000211287.4	+	11	1179	c.917C>T	c.(916-918)cCc>cTc	p.P306L	MAPK13_ENST00000373766.5_Silent_p.S255S|MAPK13_ENST00000373761.6_Missense_Mutation_p.P296L|MAPK13_ENST00000373759.1_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	306	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CTCACCCATCCCTTCTTTGAA	0.597000													18	31					0	0	0.000958	0	0
PASD1	139135	broad.mit.edu	37	X	150840952	150840952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:150840952G>A	ENST00000370357.4	+	14	1980	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	579						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCATCGTGGGGAATGAGAG	0.537000													27	10					0	0	0.001271	0	0
MASP1	5648	broad.mit.edu	37	3	186965150	186965150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:186965150C>T	ENST00000169293.6	-	9	1438	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Intron|MASP1_ENST00000296280.6_Intron|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.E346K	NM_001031849.2	NP_001027019.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	372	Sushi 2.				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)		GACTTGAGTTCGCTCTCCAGA	0.507000													26	52					0	0	0.002445	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456087	110456087	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:110456087A>G	ENST00000378402.5	+	37	4851	c.4747A>G	c.(4747-4749)Aca>Gca	p.T1583A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1583	IPT/TIG 8.				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)			TGAACTAATAACAATTATTGG	0.313000										HNSCC(38;0.096)			19	47					0	0	0.001882	0	0
SUN1	23353	broad.mit.edu	37	7	895996	895996	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:895996C>T	ENST00000456758.2	+	18	1919	c.1917_splice	c.e18-1	p.A640_splice	SUN1_ENST00000425407.2_Splice_Site_p.A368_splice|SUN1_ENST00000413514.2_Splice_Site_p.A249_splice|SUN1_ENST00000401592.1_Splice_Site_p.A451_splice|SUN1_ENST00000452783.2_Splice_Site_p.A348_splice|SUN1_ENST00000389574.3_Splice_Site_p.A368_splice|SUN1_ENST00000405266.1_Splice_Site_p.A488_splice			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	478					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	p.A368V(1)|p.A451V(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTTTTTAGGCCATCCAGAAG	0.348000													20	55					0	0	0.001882	0	0
APOBEC1	339	broad.mit.edu	37	12	7805421	7805421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:7805421C>T	ENST00000229304.4	-	3	75	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	19					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TCCCAGGGTTCGATTCTTCTC	0.453000													33	46					0	0	0.004878	0	0
DMBX1	127343	broad.mit.edu	37	1	46976841	46976841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:46976841G>A	ENST00000371956.4	+	3	598	c.583G>A	c.(583-585)Gat>Aat	p.D195N	DMBX1_ENST00000360032.3_Missense_Mutation_p.D190N	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	195					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)					AGCCCCCGAGGATCAGCCGGA	0.672000													13	28					0	0	0.003163	0	0
PRDM5	11107	broad.mit.edu	37	4	121631568	121631568	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:121631568C>T	ENST00000264808.3	-	15	1864	c.1623_splice	c.e15-1	p.E542_splice	PRDM5_ENST00000428209.2_Splice_Site_p.E511_splice|PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000515109.1_Splice_Site_p.G482_splice	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	542					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TACGGCTTCTCCTGCAGTCAA	0.493000													6	3					0	0	0.001984	0	0
POLDIP3	84271	broad.mit.edu	37	22	42988045	42988045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:42988045G>A	ENST00000252115.5	-	7	1041	c.937C>T	c.(937-939)Cat>Tat	p.H313Y	POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.H284Y|POLDIP3_ENST00000451060.2_Missense_Mutation_p.H157Y|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	313	RRM.				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						ACCCCAGGATGGACCAGTCGA	0.537000													34	92					0	0	0.001485	0	0
EXD3	54932	broad.mit.edu	37	9	140267934	140267934	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:140267934T>A	ENST00000340951.4	-	4	433	c.238A>T	c.(238-240)Atc>Ttc	p.I80F	EXD3_ENST00000479452.1_Missense_Mutation_p.I80F|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	80					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TGGTGGGAGATCCAGGCCGCC	0.697000													7	6					0	0	0.001984	0	0
RREB1	6239	broad.mit.edu	37	6	7211126	7211126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:7211126G>A	ENST00000379938.2	+	7	1052	c.515G>A	c.(514-516)aGg>aAg	p.R172K	RREB1_ENST00000349384.6_Missense_Mutation_p.R172K|RREB1_ENST00000334984.6_Missense_Mutation_p.R172K|RREB1_ENST00000379933.3_Missense_Mutation_p.R172K	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	172					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCCTCCAAGAGGAAACTGAGT	0.522000													19	90					0	0	0.001523	0	0
CTNNA3	29119	broad.mit.edu	37	10	68381523	68381523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:68381523G>A	ENST00000433211.1	-	10	1475	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	CTNNA3_ENST00000373744.4_Missense_Mutation_p.S434F	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	434					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						TGTTGACATGGAACAAGCAAG	0.328000													6	21					0	0	0.004482	0	0
HHIPL2	79802	broad.mit.edu	37	1	222712020	222712020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:222712020C>T	ENST00000343410.6	-	5	1605	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	516					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.G516D(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GATATACAGGCCATTGAGATT	0.408000													87	369					0	0	0.003610	0	0
ZNF536	9745	broad.mit.edu	37	19	30934619	30934619	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:30934619C>T	ENST00000355537.3	+	2	297	c.150C>T	c.(148-150)ctC>ctT	p.L50L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	50					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)					TCCCCGAGCTCCATCCCCGGC	0.672000													11	49					0	0	0.001368	0	0
POPDC2	64091	broad.mit.edu	37	3	119379156	119379156	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:119379156G>A	ENST00000493094.1	-	1	574	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	POPDC2_ENST00000264231.3_Silent_p.L39L|POPDC2_ENST00000468801.1_Silent_p.L39L|POPDC2_ENST00000538678.1_Silent_p.L39L|POPDC2_ENST00000474523.1_Intron			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	39						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		ATGAAGCCCAGGAGTAAGAGG	0.572000													9	31					0	0	0.000673	0	0
FAM178A	55719	broad.mit.edu	37	10	102683838	102683838	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:102683838C>T	ENST00000238961.3	+	5	1228	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	FAM178A_ENST00000370269.3_Silent_p.F360F|FAM178A_ENST00000370271.3_Silent_p.F360F	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	360																	GAGAGTCCTTCCTTGAGAAGC	0.383000													10	22					0	0	0.000673	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320887	128320887	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:128320887G>A	ENST00000262462.4	+	2	1553	c.543G>A	c.(541-543)ggG>ggA	p.G181G	SLC27A6_ENST00000395266.1_Silent_p.G181G|SLC27A6_ENST00000506176.1_Silent_p.G181G			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	181					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTGTTTGGGGGATGAAAGATT	0.453000													13	17					0	0	0.002450	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33637813	33637813	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:33637813T>G	ENST00000504830.1	-	12	2092	c.1757A>C	c.(1756-1758)aAa>aCa	p.K586T	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K586T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	586	TSP type-1 1.				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						GCGATAGCGTTTTCTTTCTCC	0.448000										HNSCC(64;0.19)			4	24					0	0	0.000248	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468303	25468303	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:25468303C>T	ENST00000453082.2	+	0	851					NR_003343.1																						AGCTCCAGCCCTTCCTGGCGC	0.587000													17	21					0	0	0.004007	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593786	16593786	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:16593786G>A	ENST00000443444.2	+	1	212	c.72G>A	c.(70-72)agG>agA	p.R24R	CCDC144A_ENST00000456009.1_Silent_p.R24R|CCDC144A_ENST00000360524.8_Silent_p.R24R|CCDC144A_ENST00000340621.5_Silent_p.R24R|RP11-219A15.1_ENST00000448331.3_Silent_p.R24R|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Silent_p.R24R			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	24																	ACGCCACGAGGAAGACCCCTA	0.657000													13	12					0	0	0.001855	0	0
OR11H4	390442	broad.mit.edu	37	14	20711058	20711058	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20711058C>T	ENST00000315409.2	+	1	161	c.108C>T	c.(106-108)ttC>ttT	p.F36F		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TTCAGATTTTCCTCTTCTCAT	0.443000													4	30					0	0	0.000248	0	0
PARP11	57097	broad.mit.edu	37	12	3931093	3931093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:3931093C>T	ENST00000228820.4	-	6	638	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.R158Q|PARP11_ENST00000427057.2_Missense_Mutation_p.R84Q|PARP11_ENST00000447133.3_Missense_Mutation_p.R84Q	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	158	PARP catalytic.						NAD+ ADP-ribosyltransferase activity	p.R158Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTTTAATTCGGTTGCGATC	0.348000													39	48					0	0	0.001287	0	0
CNOT3	4849	broad.mit.edu	37	19	54649503	54649503	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54649503A>T	ENST00000406403.1	+	7	2256	c.653A>T	c.(652-654)gAc>gTc	p.D218V	CNOT3_ENST00000221232.5_Missense_Mutation_p.D218V|CNOT3_ENST00000358389.3_Missense_Mutation_p.D37V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	218					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGGACCCCGACTTCGAGGAG	0.567000													13	38					0	0	0.004007	0	0
GALNT16	57452	broad.mit.edu	37	14	69814766	69814766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:69814766C>T	ENST00000553669.1	+	14	1586	c.1586C>T	c.(1585-1587)cCa>cTa	p.P529L	GALNT16_ENST00000448469.3_Intron|GALNT16_ENST00000337827.4_Intron					UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		CCCGAGGGGCCATGCCTCAGG	0.597000													11	8					0	0	0.000978	0	0
DAB1	1600	broad.mit.edu	37	1	57480751	57480751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:57480751C>T	ENST00000371236.2	-	12	1512	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	DAB1_ENST00000420954.2_Missense_Mutation_p.D415N|DAB1_ENST00000371231.1_Missense_Mutation_p.D450N|DAB1_ENST00000414851.2_Missense_Mutation_p.D399N|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.D417N|DAB1_ENST00000439789.2_Missense_Mutation_p.D331N			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	450					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						ATCTGGAAATCCTTAAACGTT	0.592000													20	51					0	0	0.001216	0	0
KIAA0753	9851	broad.mit.edu	37	17	6493149	6493149	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:6493149G>A	ENST00000361413.3	-	18	3094	c.2736C>T	c.(2734-2736)atC>atT	p.I912I	KIAA0753_ENST00000572370.1_Silent_p.I613I|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Silent_p.I613I|KIAA0753_ENST00000589033.1_Silent_p.I368I	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	912						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CATGAGATATGATCCGAAGGT	0.473000													19	15					0	0	0.001523	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943122	12943122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:12943122C>T	ENST00000235349.5	-	2	164	c.94G>A	c.(94-96)Gag>Aag	p.E32K		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	32										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGCAGCTCCTCCAGGGTG	0.602000													6	80					0	0	0.001984	0	0
ADD2	119	broad.mit.edu	37	2	70906010	70906010	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:70906010C>T	ENST00000264436.3	-	11	1653	c.1209G>A	c.(1207-1209)acG>acA	p.T403T	ADD2_ENST00000413157.2_Silent_p.T403T|ADD2_ENST00000407644.2_Silent_p.T403T|ADD2_ENST00000355733.3_Silent_p.T403T|ADD2_ENST00000430656.1_Silent_p.T419T	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	403					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.T403T(2)|p.T419T(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGCTGTGACCGTGGCTGGAA	0.542000													26	77					0	0	0.001786	0	0
SLC5A5	6528	broad.mit.edu	37	19	18004596	18004596	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:18004596C>T	ENST00000222248.3	+	15	2189	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	614					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTCTGTTTTTCTTGGGGCAGA	0.577000													5	8					0	0	0.000602	0	0
GDF3	9573	broad.mit.edu	37	12	7848100	7848100	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:7848100C>T	ENST00000329913.3	-	1	272	c.225G>A	c.(223-225)gaG>gaA	p.E75E		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	75					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGACGCCCAGCTCCTTTACGT	0.493000													38	46					0	0	0.004878	0	0
NOD1	10392	broad.mit.edu	37	7	30492007	30492007	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:30492007G>A	ENST00000222823.4	-	6	1551	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	342	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						TCTTCCGCAGGAACTGGCGCG	0.672000													27	43					0	0	0.001512	0	0
MYPOP	339344	broad.mit.edu	37	19	46393958	46393958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:46393958G>A	ENST00000322217.5	-	3	1209	c.1123C>T	c.(1123-1125)Ccg>Tcg	p.P375S		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	375	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GAGTCGTGCGGAGGGAGCGGG	0.647000													4	15					0	0	0.000602	0	0
NR1I3	9970	broad.mit.edu	37	1	161203020	161203020	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:161203020G>T	ENST00000367983.4	-	4	641	c.347C>A	c.(346-348)aCa>aAa	p.T116K	NR1I3_ENST00000367984.4_Missense_Mutation_p.T116K|NR1I3_ENST00000367985.3_Missense_Mutation_p.T116K|NR1I3_ENST00000428574.2_Missense_Mutation_p.T116K|NR1I3_ENST00000515621.1_Missense_Mutation_p.T41K|NR1I3_ENST00000442691.2_Missense_Mutation_p.T116K|NR1I3_ENST00000367980.2_Missense_Mutation_p.T116K|NR1I3_ENST00000367981.3_Missense_Mutation_p.T87K|NR1I3_ENST00000515452.1_Missense_Mutation_p.T116K|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367982.4_Missense_Mutation_p.T116K|NR1I3_ENST00000412844.2_Missense_Mutation_p.T87K|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000506209.1_Missense_Mutation_p.T87K|NR1I3_ENST00000504010.1_Missense_Mutation_p.T87K|NR1I3_ENST00000511676.1_Missense_Mutation_p.T87K|NR1I3_ENST00000367979.2_Missense_Mutation_p.T116K|NR1I3_ENST00000512372.1_Missense_Mutation_p.T87K|NR1I3_ENST00000508740.1_Missense_Mutation_p.T87K|NR1I3_ENST00000437437.2_Missense_Mutation_p.T87K|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000505005.1_Missense_Mutation_p.T116K			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	116					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCCCAGGAGTGTCCGGATCAG	0.567000													30	157					1.75199e-13	3.67064e-13	0.001271	1	0
TTC3	7267	broad.mit.edu	37	21	38525433	38525433	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:38525433C>T	ENST00000399017.2	+	27	5343	c.2596C>T	c.(2596-2598)Cta>Tta	p.L866L	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.L866L|TTC3_ENST00000354749.2_Silent_p.L866L|TTC3_ENST00000540756.1_Silent_p.L556L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	866					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)				CAGAAATTTTCTAAATGAAGC	0.353000													38	99					0	0	0.005524	0	0
PUS7L	83448	broad.mit.edu	37	12	44148981	44148981	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:44148981A>T	ENST00000416848.2	-	2	556	c.68T>A	c.(67-69)tTt>tAt	p.F23Y	PUS7L_ENST00000551923.1_Missense_Mutation_p.F23Y|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.F23Y|PUS7L_ENST00000553166.1_Missense_Mutation_p.F23Y	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	23					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AGTGCCATGAAATCCAACGTG	0.328000													18	24					0	0	0.004990	0	0
PCYT2	5833	broad.mit.edu	37	17	79864690	79864690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:79864690C>T	ENST00000538936.2	-	7	730	c.622G>A	c.(622-624)Gag>Aag	p.E208K	PCYT2_ENST00000570391.1_Missense_Mutation_p.E176K|PCYT2_ENST00000538721.2_Missense_Mutation_p.E226K|PCYT2_ENST00000331285.3_Missense_Mutation_p.E130K|PCYT2_ENST00000571105.1_Missense_Mutation_p.E208K|PCYT2_ENST00000570388.1_Missense_Mutation_p.E130K	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	208	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGCTGGGGCTCCTTCCCAGAA	0.597000													19	42					0	0	0.000958	0	0
ACSM2B	348158	broad.mit.edu	37	16	20563612	20563612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:20563612C>T	ENST00000329697.6	-	6	916	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	ACSM2B_ENST00000567001.1_Missense_Mutation_p.G250S|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.G250S|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G171S	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	250					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.G250C(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCTTGCAGGCCTGTCCAACTG	0.473000													18	46					0	0	0.002780	0	0
TNN	63923	broad.mit.edu	37	1	175096176	175096176	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:175096176C>T	ENST00000239462.4	+	13	3113	c.3000C>T	c.(2998-3000)atC>atT	p.I1000I		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1000	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGCTCAGATCCACGGCTACA	0.517000													53	59					0	0	0.003610	0	0
FASN	2194	broad.mit.edu	37	17	80039891	80039891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:80039891G>A	ENST00000306749.2	-	36	6375	c.6157C>T	c.(6157-6159)Ctc>Ttc	p.L2053F	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2053	Beta-ketoacyl reductase (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)	CCACCTGGGAGGCCTTCGTGC	0.682000													10	21					0	0	0.000978	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386441	41386441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:41386441C>T	ENST00000301146.4	-	3	977	c.436G>A	c.(436-438)Gag>Aag	p.E146K	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.E95K	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	146						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ATGCGCTCCTCGATGCCTCGC	0.662000													25	23					0	0	0.001061	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923654	78923654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:78923654C>T	ENST00000261751.3	-	3	336	c.225G>A	c.(223-225)atG>atA	p.M75I	CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Missense_Mutation_p.M75I	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	75					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CATTGGTGGTCATGATCTGCT	0.532000													45	87					0	0	0.003610	0	0
TTC7B	145567	broad.mit.edu	37	14	91007921	91007921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:91007921G>A	ENST00000357056.2	-	21	2495	c.2374C>T	c.(2374-2376)Cac>Tac	p.H792Y	TTC7B_ENST00000328459.6_Missense_Mutation_p.H775Y|TTC7B_ENST00000554654.1_5'UTR			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	775							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)				CCTAGCTGGTGAAGGATCAGG	0.602000													6	20					0	0	0.001168	0	0
CASKIN2	57513	broad.mit.edu	37	17	73500746	73500746	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:73500746C>T	ENST00000321617.3	-	12	1807	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E	CASKIN2_ENST00000433559.2_Silent_p.E325E	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	407						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCACGCTGCCCTCACTGCCCA	0.637000													6	3					0	0	0.001168	0	0
HDAC6	10013	broad.mit.edu	37	X	48681152	48681152	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:48681152C>T	ENST00000334136.5	+	24	2638	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	HDAC6_ENST00000376619.2_Silent_p.I820I|HDAC6_ENST00000444343.2_Silent_p.I834I			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	820					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGGCCTCAATCACTGAGACCA	0.627000													20	9					0	0	0.001216	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161981	141161981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:141161981G>A	ENST00000514251.1	+	4	1030	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	ZBTB38_ENST00000321464.5_Missense_Mutation_p.E252K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E251K			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	251					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						CACAGGGAAAGAAAATTGTGA	0.478000													13	26					0	0	0.001368	0	0
PDE8B	8622	broad.mit.edu	37	5	76721606	76721606	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:76721606G>A	ENST00000264917.5	+	21	2478	c.2433G>A	c.(2431-2433)aaG>aaA	p.K811K	PDE8B_ENST00000333194.4_Silent_p.K756K|PDE8B_ENST00000505283.1_Silent_p.K276K|PDE8B_ENST00000340978.3_Silent_p.K764K|PDE8B_ENST00000346042.3_Silent_p.K714K|PDE8B_ENST00000342343.4_Silent_p.K791K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	811	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ATGAAGAGAAGAGACAGGGAC	0.448000													16	194					0	0	0.004007	0	0
SPARCL1	8404	broad.mit.edu	37	4	88400633	88400633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:88400633C>T	ENST00000418378.1	-	11	2486	c.1915G>A	c.(1915-1917)Gat>Aat	p.D639N	SPARCL1_ENST00000282470.6_Missense_Mutation_p.D639N|SPARCL1_ENST00000503414.1_Missense_Mutation_p.D514N	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	639	EF-hand.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ATGTGCTTATCCTTGTTGGGG	0.483000													38	38					0	0	0.001287	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22853738	22853738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:22853738C>T	ENST00000283645.4	+	12	1506	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.S459F|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	459					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)		CCTCAGGTCTCCCTCCTTTTC	0.542000													4	20					0	0	0.000248	0	0
FAM134A	79137	broad.mit.edu	37	2	220046990	220046990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:220046990G>A	ENST00000430297.2	+	9	1407	c.1271G>A	c.(1270-1272)tGc>tAc	p.C424Y		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	424						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGTGAAATGCTCCCCTGGA	0.597000													28	67					0	0	0.001061	0	0
NCR2	9436	broad.mit.edu	37	6	41304152	41304152	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:41304152T>A	ENST00000373083.4	+	2	602	c.380T>A	c.(379-381)cTg>cAg	p.L127Q	NCR2_ENST00000373089.5_Missense_Mutation_p.L127Q|NCR2_ENST00000373086.3_Missense_Mutation_p.L127Q	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	127					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)					AGATTCTATCTGGTGGTATCT	0.532000													23	35					0	0	0.004656	0	0
OR51E2	81285	broad.mit.edu	37	11	4703715	4703715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4703715G>A	ENST00000396950.3	-	2	466	c.227C>T	c.(226-228)aCc>aTc	p.T76I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTTAGGCATGGTGGATGTGGA	0.502000													28	34					0	0	0.002096	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229977	8229977	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:8229977G>A	ENST00000539824.1	+	12	2702	c.2328G>A	c.(2326-2328)cgG>cgA	p.R776R	SH3TC1_ENST00000245105.3_Silent_p.R852R			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	852							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGTCTGTCCGGGATGCAGTGG	0.677000													19	53					0	0	0.001216	0	0
OR51B4	79339	broad.mit.edu	37	11	5322336	5322336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5322336G>A	ENST00000380224.1	-	1	890	c.841C>T	c.(841-843)Cct>Tct	p.P281S	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	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ACGAATGGAGGAAAGAGAAAA	0.428000													4	30					0	0	0.000602	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838494	155838494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:155838494G>A	ENST00000490337.1	+	1	158	c.94G>A	c.(94-96)Gac>Aac	p.D32N	KCNAB1_ENST00000389636.5_Missense_Mutation_p.D32N	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	32						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)			AGCAGGGAAAGACAAATCTCC	0.567000													46	70					0	0	0.002522	0	0
SYTL4	94121	broad.mit.edu	37	X	99942168	99942168	+	Silent	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:99942168A>T	ENST00000455616.1	-	12	1426	c.1080T>A	c.(1078-1080)atT>atA	p.I360I	SYTL4_ENST00000276141.6_Silent_p.I360I|SYTL4_ENST00000454200.2_Silent_p.I362I|SYTL4_ENST00000263033.5_Silent_p.I360I|SYTL4_ENST00000372989.1_Silent_p.I360I|SYTL4_ENST00000372981.1_3'UTR			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	360	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGAAAAGGCAATCCTGCCAG	0.498000													35	13					0	0	0.005524	0	0
OR5P2	120065	broad.mit.edu	37	11	7818001	7818001	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:7818001G>A	ENST00000329434.2	-	1	519	c.489C>T	c.(487-489)ctC>ctT	p.L163L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	163					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)		GTCCACAGAAGAGTAAAAAAT	0.393000													16	32					0	0	0.004990	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537809	27537809	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:27537809G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AGGTGCCATGGTAGGTGTTGG	0.463000													25	71					0	0	0.003954	0	0
TDRD9	122402	broad.mit.edu	37	14	104491924	104491924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:104491924G>A	ENST00000409874.4	+	26	2790	c.2742G>A	c.(2740-2742)tgG>tgA	p.W914*	TDRD9_ENST00000339063.5_Nonsense_Mutation_p.W914*	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	914					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GACACTTTTGGGGATACAGGA	0.438000													12	62					0	0	0.000978	0	0
ZNF281	23528	broad.mit.edu	37	1	200377283	200377283	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:200377283G>A	ENST00000294740.2	-	2	1675	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	ZNF281_ENST00000367352.3_Silent_p.L481L|ZNF281_ENST00000367353.1_Silent_p.L517L	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	517					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TTGTACTTTGGAGAAGACCAA	0.398000													33	140					0	0	0.001485	0	0
TANC1	85461	broad.mit.edu	37	2	160032913	160032913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:160032913G>A	ENST00000263635.6	+	13	2023	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	TANC1_ENST00000454300.1_Missense_Mutation_p.E490K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	596						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						TGGCTTAAATGAAGCTGAGTT	0.284000													20	52					0	0	0.001523	0	0
DMTF1	9988	broad.mit.edu	37	7	86824126	86824126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:86824126C>T	ENST00000414194.2	+	17	3149	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	DMTF1_ENST00000394703.5_Missense_Mutation_p.P719S|DMTF1_ENST00000413276.2_Missense_Mutation_p.P649S|DMTF1_ENST00000331242.7_Missense_Mutation_p.P719S|DMTF1_ENST00000432937.2_Missense_Mutation_p.P631S			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	719	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ATCTGTCTTGCCTTTGACAAC	0.323000													6	9					0	0	0.004482	0	0
ANAPC1	64682	broad.mit.edu	37	2	112614391	112614391	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:112614391C>T	ENST00000341068.3	-	12	2203	c.1431G>A	c.(1429-1431)aaG>aaA	p.K477K		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	477					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTGCTGCATCCTTTGCTGGTA	0.353000													7	62					0	0	0.000443	0	0
FAT3	120114	broad.mit.edu	37	11	92577195	92577195	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:92577195G>A	ENST00000298047.6	+	18	10679	c.10662G>A	c.(10660-10662)ctG>ctA	p.L3554L	FAT3_ENST00000525166.1_Silent_p.L3404L|FAT3_ENST00000409404.2_Silent_p.L3554L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3554	Cadherin 33.				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)				CCATTCCCCTGGAAATTTTCA	0.488000										TCGA Ovarian(4;0.039)			254	285					0	0	0.003610	0	0
ALOX12B	242	broad.mit.edu	37	17	7990686	7990686	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:7990686G>A	ENST00000319144.4	-	1	335	c.75C>T	c.(73-75)acC>acT	p.T25T		NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	25	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TCCCCACAATGGTCAGTGAGA	0.567000										Multiple Myeloma(8;0.094)			55	40					0	0	0.003610	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604707	140604707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140604707G>A	ENST00000239449.4	+	1	1630	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	PCDHB14_ENST00000515856.2_Missense_Mutation_p.E391K	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		544	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTGAGCAGCGAGGCGCTGGT	0.687000													7	35					0	0	0.001984	0	0
COL7A1	1294	broad.mit.edu	37	3	48616816	48616816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:48616816G>A	ENST00000328333.8	-	60	5400	c.5293C>T	c.(5293-5295)Cca>Tca	p.P1765S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1765S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1765	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTCCTGCTGGGCCTCGGACA	0.567000													21	50					0	0	0.002299	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054322	21054322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:21054322G>A	ENST00000381545.3	+	15	2005	c.1786G>A	c.(1786-1788)Gat>Aat	p.D596N	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.D596N|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D596N|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D596N	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	596					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	p.D596N(1)		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)					GGCTCTGATTGATAAAACATG	0.378000													40	57					0	0	0.003214	0	0
GIT2	9815	broad.mit.edu	37	12	110390907	110390907	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:110390907T>G	ENST00000360185.4	-	13	1396	c.1232A>C	c.(1231-1233)aAc>aCc	p.N411T	GIT2_ENST00000553118.1_Missense_Mutation_p.N411T|GIT2_ENST00000356259.4_Missense_Mutation_p.N411T|GIT2_ENST00000551209.1_Missense_Mutation_p.N410T|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.N411T|GIT2_ENST00000547815.1_Missense_Mutation_p.N411T|GIT2_ENST00000320063.9_Missense_Mutation_p.N411T|GIT2_ENST00000457474.2_Missense_Mutation_p.N413T|GIT2_ENST00000355312.3_Missense_Mutation_p.N411T|GIT2_ENST00000354574.4_Missense_Mutation_p.N413T|GIT2_ENST00000361006.5_Missense_Mutation_p.N411T			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	411					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CTTCTGCCGGTTTGTTTTGCT	0.547000													9	55					0	0	0.000443	0	0
SNHG16	100507246	broad.mit.edu	37	17	74557740	74557740	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:74557740C>T	ENST00000364968.1	+	0	25																											GTTAGTTATCCCTGTCTGAAA	0.363000													38	76					0	0	0.002522	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221031	140221031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140221031G>A	ENST00000531613.1	+	1	125	c.125G>A	c.(124-126)gGc>gAc	p.G42D	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.G42D|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAAACACGGCACCTTCGTG	0.672000													10	61					0	0	0.000978	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377496	125377496	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:125377496C>T	ENST00000297913.2	+	1	549	c.480C>T	c.(478-480)acC>acT	p.T160T	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TGCTGCATACCTTTCTCATAG	0.498000													26	18					0	0	0.005443	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811248	5811248	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:5811248G>A	ENST00000381095.3	-	6	2688	c.2061C>T	c.(2059-2061)ttC>ttT	p.F687F	NLGN4X_ENST00000275857.6_Silent_p.F687F|NLGN4X_ENST00000538097.1_Silent_p.F687F|NLGN4X_ENST00000381092.1_Silent_p.F687F|NLGN4X_ENST00000381093.2_Silent_p.F707F	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	687					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGATGTTGAGGAAGAGGAGCG	0.507000													47	27					0	0	0.003610	0	0
KRT75	9119	broad.mit.edu	37	12	52825840	52825840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:52825840C>T	ENST00000252245.5	-	3	944	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	242	Coil 1B.|Rod.		E -> G (in dbSNP:rs2232393).			keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TTGTTAATTTCATCTTCGTAC	0.453000													6	37					0	0	0.001984	0	0
MUC17	140453	broad.mit.edu	37	7	100680237	100680237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:100680237C>T	ENST00000306151.4	+	3	5604	c.5540C>T	c.(5539-5541)tCa>tTa	p.S1847L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1847	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAGTCAGTTCATCTCCTACA	0.512000													60	157					0	0	0.003610	0	0
MID2	11043	broad.mit.edu	37	X	107084038	107084038	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:107084038G>A	ENST00000262843.6	+	2	691	c.143G>A	c.(142-144)aGc>aAc	p.S48N	MID2_ENST00000443968.2_Missense_Mutation_p.S48N	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	48						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTGCTCACAGCCTCTGCTTC	0.483000													8	106					0	0	0.004482	0	0
SNHG14	104472715	broad.mit.edu	37	15	25422007	25422007	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:25422007C>T	ENST00000441592.2	+	0	224				SNORD115-4_ENST00000363810.1_RNA																							TTATATTGTTCTGAAGAGAGG	0.537000													92	186					0	0	0.003610	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856118	12856118	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:12856118G>A	ENST00000332296.7	+	4	1501	c.1398G>A	c.(1396-1398)gaG>gaA	p.E466E	PRAMEF1_ENST00000400814.3_Silent_p.E221E	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	466										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCGTCTGAGGAACTGGAGC	0.542000													24	68					0	0	0.003271	0	0
MSR1	4481	broad.mit.edu	37	8	16026222	16026222	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:16026222G>A	ENST00000350896.3	-	4	572	c.375C>T	c.(373-375)atC>atT	p.I125I	MSR1_ENST00000262101.5_Silent_p.I125I|MSR1_ENST00000445506.2_Silent_p.I143I|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Silent_p.I125I|MSR1_ENST00000355282.2_Silent_p.I125I	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	125					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AAATATGCTGGATTCTCTTCT	0.388000													39	98					0	0	0.001706	0	0
C15orf48	84419	broad.mit.edu	37	15	45723006	45723006	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:45723006C>T	ENST00000344300.3	+	1	202	c.12C>T	c.(10-12)ttC>ttT	p.F4F	RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Silent_p.F4F	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	4						nucleus				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		TGAGCTTTTTCCAACTCCTGA	0.373000											OREG0023107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	45					0	0	0.002450	0	0
PRKCQ	5588	broad.mit.edu	37	10	6553137	6553137	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:6553137G>A	ENST00000263125.5	-	3	237	c.138C>T	c.(136-138)atC>atT	p.I46I	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.I46I	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	46	C2.				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						GCTTTTTCTGGATATACATCT	0.453000													6	39					0	0	0.003080	0	0
UMPS	7372	broad.mit.edu	37	3	124456749	124456749	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:124456749C>T	ENST00000232607.2	+	3	751	c.645C>T	c.(643-645)ccC>ccT	p.P215P	UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000538242.1_Silent_p.P37P|UMPS_ENST00000536109.1_Silent_p.P123P|UMPS_ENST00000413078.2_Silent_p.P37P	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	215	Domain linker.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		ATGGTTCTCCCCTTTCTATAA	0.478000													15	35					0	0	0.004007	0	0
SLC1A6	6511	broad.mit.edu	37	19	15083648	15083648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:15083648C>T	ENST00000430939.2	-	2	217	c.88G>A	c.(88-90)Gct>Act	p.A30T	SLC1A6_ENST00000221742.3_Silent_p.R25R|SLC1A6_ENST00000598504.1_Silent_p.R25R|SLC1A6_ENST00000544886.2_Silent_p.R25R|SLC1A6_ENST00000600144.1_Silent_p.R25R			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	0					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TTTCCTGCAGCCGCTGCAGCC	0.667000													4	8					0	0	0.000248	0	0
PAK7	57144	broad.mit.edu	37	20	9561044	9561044	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:9561044G>A	ENST00000378429.3	-	5	1284	c.738C>T	c.(736-738)tcC>tcT	p.S246S	PAK7_ENST00000353224.5_Silent_p.S246S|PAK7_ENST00000378423.1_Silent_p.S246S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	246	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)			GGCTCTCCTTGGAGCACCCGC	0.537000													30	47					0	0	0.001061	0	0
OR52N5	390075	broad.mit.edu	37	11	5799834	5799834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5799834G>A	ENST00000317093.2	-	1	63	c.31C>T	c.(31-33)Cca>Tca	p.P11S	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGAATTGTTGGAAACCAGCAT	0.358000													8	34					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13820480	13820480	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13820480G>A	ENST00000265104.4	-	41	6920	c.6816C>T	c.(6814-6816)atC>atT	p.I2272I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2272	AAA 2 (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)					TCAAGGTGTGGATGCAGGTGG	0.552000									Kartagener syndrome				15	22					0	0	0.006122	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439545	145439545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:145439545G>A	ENST00000511217.1	+	8	1724	c.1672G>A	c.(1672-1674)Ggg>Agg	p.G558R	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.G558R			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	558							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)			CCAGCCACAGGGGATCCCCTC	0.672000													12	41					0	0	0.001855	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955501	18955501	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:18955501G>A	ENST00000302797.3	-	1	1055	c.831C>T	c.(829-831)tcC>tcT	p.S277S		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	277					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						GCTGCCTAAAGGAGCCCACGA	0.507000													11	12					0	0	0.001855	0	0
TBCK	93627	broad.mit.edu	37	4	107016744	107016744	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:107016744G>A	ENST00000273980.4	-	26	2913	c.2466C>T	c.(2464-2466)ttC>ttT	p.F822F	TBCK_ENST00000394708.2_Silent_p.F822F|TBCK_ENST00000432496.2_Silent_p.F822F|TBCK_ENST00000361687.4_Silent_p.F759F|TBCK_ENST00000394706.3_Silent_p.F783F			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	822	Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CTTCTGCAGTGAAGGCAGCAC	0.463000													20	16					0	0	0.001882	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558594	129558594	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:129558594C>T	ENST00000422113.2	-	9	3452	c.3126G>A	c.(3124-3126)agG>agA	p.R1042R	TMEM132D_ENST00000389441.4_Silent_p.R580R	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1042						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)		TTACCCTTTTCCTTTTTGAGG	0.483000													15	79					0	0	0.006122	0	0
MUC3A	4584	broad.mit.edu	37	7	100552275	100552275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:100552275G>A	ENST00000319509.7	+	1	1026	c.1026G>A	c.(1024-1026)atG>atA	p.M342I						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GTGTTGAAATGGATCCCAGCA	0.483000													80	287					0	0	0.003610	0	0
KCNIP4	80333	broad.mit.edu	37	4	20884291	20884291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:20884291C>T	ENST00000382152.2	-	2	270	c.103G>A	c.(103-105)Gag>Aag	p.E35K	KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382150.4_Intron|KCNIP4_ENST00000382148.3_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	35	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				ATGAGCCGCTCTTTAATGCTG	0.458000													22	39					0	0	0.001271	0	0
SLC39A11	201266	broad.mit.edu	37	17	71080986	71080986	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:71080986C>T	ENST00000542342.2	-	3	197		c.e3-1		SLC39A11_ENST00000579732.1_Splice_Site|SLC39A11_ENST00000255559.3_Splice_Site	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGATCCGCCTCTGAAAATCAA	0.418000													18	43					0	0	0.001216	0	0
SYNPO	11346	broad.mit.edu	37	5	150029242	150029242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:150029242C>T	ENST00000394243.1	+	3	2511	c.2137C>T	c.(2137-2139)Ccc>Tcc	p.P713S	SYNPO_ENST00000519664.1_Missense_Mutation_p.P469S|SYNPO_ENST00000522122.1_Missense_Mutation_p.P713S|SYNPO_ENST00000307662.4_Missense_Mutation_p.P469S	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	713					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGCCCAAACCCAACCAGAA	0.642000													4	27					0	0	0.000602	0	0
GJA1	2697	broad.mit.edu	37	6	121768239	121768239	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:121768239C>T	ENST00000282561.3	+	2	403	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	82					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCCTGCAGATCATATTTGTGT	0.448000													8	25					0	0	0.004482	0	0
NLRP1	22861	broad.mit.edu	37	17	5425088	5425088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:5425088G>A	ENST00000345221.3	-	13	4093	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	NLRP1_ENST00000269280.4_Missense_Mutation_p.S1180F|NLRP1_ENST00000572272.1_Missense_Mutation_p.S1180F|NLRP1_ENST00000262467.5_Missense_Mutation_p.S1184F|NLRP1_ENST00000577119.1_Missense_Mutation_p.S1150F|NLRP1_ENST00000354411.3_Missense_Mutation_p.S1150F	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	1180					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)				TTGGAACAGGGATGTGTCCAC	0.478000													25	33					0	0	0.003954	0	0
ZNF300	91975	broad.mit.edu	37	5	150277702	150277702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:150277702C>T	ENST00000427179.1	-	5	413	c.187G>A	c.(187-189)Gga>Aga	p.G63R	ZNF300_ENST00000418587.2_Missense_Mutation_p.G27R|ZNF300_ENST00000394226.2_Missense_Mutation_p.G63R|ZNF300_ENST00000274599.5_Missense_Mutation_p.G63R|ZNF300_ENST00000446148.2_Missense_Mutation_p.G79R			Q96RE9	ZN300_HUMAN	zinc finger protein 300	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTCTTCTCCTTGTTCCAAC	0.388000													3	9					0	0	0.004672	0	0
SPG7	6687	broad.mit.edu	37	16	89590484	89590484	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:89590484G>A	ENST00000268704.2	+	4	462	c.447G>A	c.(445-447)gcG>gcA	p.A149A	SPG7_ENST00000341316.2_Silent_p.A149A	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	149					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGGTCATCGCGGTTGTCATGA	0.612000													17	52					0	0	0.004990	0	0
DOCK3	1795	broad.mit.edu	37	3	51352490	51352490	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:51352490G>A	ENST00000266037.9	+	32	3356	c.3333G>A	c.(3331-3333)cgG>cgA	p.R1111R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1111						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)		CAGAAGTACGGAATATCATGA	0.438000													7	28					0	0	0.003080	0	0
SH2D4B	387694	broad.mit.edu	37	10	82369275	82369275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:82369275G>A	ENST00000339284.2	+	6	1383	c.953G>A	c.(952-954)aGg>aAg	p.R318K	SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000313455.4_Missense_Mutation_p.R270K|SH2D4B_ENST00000470604.2_Missense_Mutation_p.R317K	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	317										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGCTTCGAGAGGAACACCAAG	0.592000													15	51					0	0	0.006122	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877315	24877315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:24877315C>T	ENST00000382554.3	+	3	757	c.439C>T	c.(439-441)Cct>Tct	p.P147S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	147					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGGCCCTGCCCCTCTGCTGAC	0.677000													6	18					0	0	0.001168	0	0
MCM10	55388	broad.mit.edu	37	10	13224992	13224992	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:13224992C>T	ENST00000378694.1	+	7	1065	c.990C>T	c.(988-990)tcC>tcT	p.S330S	MCM10_ENST00000378714.3_Silent_p.S330S|MCM10_ENST00000484800.2_Silent_p.S331S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	331					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AATGTGTGTCCTTGTTCTTAT	0.433000													8	40					0	0	0.003080	0	0
IL21R	50615	broad.mit.edu	37	16	27445682	27445682	+	Missense_Mutation	SNP	G	G	A	rs149169230		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:27445682G>A	ENST00000337929.3	+	3	537	c.64G>A	c.(64-66)Gac>Aac	p.D22N	IL21R_ENST00000395755.1_Missense_Mutation_p.D22N|IL21R_ENST00000564089.1_Missense_Mutation_p.D22N|IL21R_ENST00000395754.4_Missense_Mutation_p.D22N	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	22					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGGCTGCCCCGACCTCGTCTG	0.632000			T	BCL6	NHL								15	27					0	0	0.004990	0	0
CASP14	23581	broad.mit.edu	37	19	15164592	15164592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:15164592G>A	ENST00000427043.3	+	4	534	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	CASP14_ENST00000221740.1_Missense_Mutation_p.E76K	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	76					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CGATTCCCGGGAAGATCCCGT	0.542000													35	44					0	0	0.001287	0	0
TMEM255B	348013	broad.mit.edu	37	13	114503840	114503840	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:114503840T>G	ENST00000375353.3	+	6	491	c.464T>G	c.(463-465)gTg>gGg	p.V155G		NM_182614.2	NP_872420.1			transmembrane protein 255B																		CAGCTGAAGGTGAGAAGCAAC	0.647000													9	8					0	0	0.001368	0	0
SPTBN5	51332	broad.mit.edu	37	15	42156208	42156208	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:42156208A>C	ENST00000320955.6	-	40	7160	c.6933T>G	c.(6931-6933)gaT>gaG	p.D2311E		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2311					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGATGCAGGCATCACCCACTG	0.587000													21	59					0	0	0.002299	0	0
OR13C2	392376	broad.mit.edu	37	9	107367647	107367647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:107367647C>T	ENST00000542196.1	-	1	304	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GTCTTTCTTTCTGAAAGGAAG	0.517000													19	15					0	0	0.004656	0	0
TMEM127	55654	broad.mit.edu	37	2	96919674	96919674	+	Missense_Mutation	SNP	G	G	A	rs140860906		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:96919674G>A	ENST00000258439.2	-	4	845	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	TMEM127_ENST00000435268.1_Missense_Mutation_p.R113C|TMEM127_ENST00000432959.1_Missense_Mutation_p.R197C	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	197					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GGGTAGTGGCGCAGGAGGTTG	0.592000													12	38					0	0	0.001368	0	0
BPIFB6	128859	broad.mit.edu	37	20	31622587	31622587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:31622587G>A	ENST00000349552.1	+	4	321	c.321G>A	c.(319-321)atG>atA	p.M107I		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	107						extracellular region	lipid binding										GAGGGAACATGGAGATCATCG	0.587000													8	105					0	0	0.004482	0	0
MAP3K6	9064	broad.mit.edu	37	1	27684357	27684357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:27684357C>T	ENST00000493901.1	-	23	3165	c.2926G>A	c.(2926-2928)Gag>Aag	p.E976K	MAP3K6_ENST00000374040.3_Missense_Mutation_p.E968K|MAP3K6_ENST00000357582.2_Missense_Mutation_p.E976K	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	976					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGCAGGCTCCTCGGGCACC	0.652000											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	7					0	0	0.000602	0	0
OR5H6	79295	broad.mit.edu	37	3	97983347	97983347	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:97983347C>T	ENST00000383696.2	+	1	260	c.219C>T	c.(217-219)atC>atT	p.I73I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACCTTCATATCCCAATGTACT	0.418000													32	64					0	0	0.003271	0	0
MYH8	4626	broad.mit.edu	37	17	10296203	10296203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:10296203G>A	ENST00000403437.2	-	37	5502	c.5408C>T	c.(5407-5409)gCc>gTc	p.A1803V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1803					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						CAGCTGCTCGGCCTCATCTAG	0.572000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				70	40					0	0	0.003610	0	0
SLC41A2	84102	broad.mit.edu	37	12	105322143	105322143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:105322143C>T	ENST00000258538.3	-	1	290	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	55						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TGCCTGTCTTCTTGGTTTTTC	0.363000													3	10					0	0	0.004672	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7670259	7670259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:7670259C>T	ENST00000446248.2	+	2	397	c.296C>T	c.(295-297)cCc>cTc	p.P99L	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P99L	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	99					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						GAAACACCCCCCAACCCCTCT	0.692000													25	30					0	0	0.004656	0	0
CHD4	1108	broad.mit.edu	37	12	6700880	6700880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:6700880G>A	ENST00000309577.6	-	21	3365	c.3202C>T	c.(3202-3204)Cgt>Tgt	p.R1068C	CHD4_ENST00000357008.2_Missense_Mutation_p.R1068C|CHD4_ENST00000544484.1_Missense_Mutation_p.R1065C|CHD4_ENST00000544040.1_Missense_Mutation_p.R1061C			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1068	Helicase C-terminal.				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						ATGAGTACACGATGCCCACCC	0.468000													35	84					0	0	0.005524	0	0
C14orf105	55195	broad.mit.edu	37	14	57960304	57960304	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:57960304A>G	ENST00000216445.3	-	1	266	c.130T>C	c.(130-132)Tca>Cca	p.S44P	C14orf105_ENST00000422976.2_Missense_Mutation_p.S44P|C14orf105_ENST00000534126.1_Missense_Mutation_p.S44P|C14orf105_ENST00000526336.1_Missense_Mutation_p.S44P	NM_018168.2	NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	44										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						AGTGAATATGAAGTCTTTTCT	0.443000													4	21					0	0	0.000602	0	0
HABP2	3026	broad.mit.edu	37	10	115335754	115335754	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:115335754T>A	ENST00000351270.3	+	4	418	c.322T>A	c.(322-324)Tgt>Agt	p.C108S	HABP2_ENST00000537906.1_Missense_Mutation_p.S96R|HABP2_ENST00000542051.1_Missense_Mutation_p.C82S|HABP2_ENST00000541666.1_Missense_Mutation_p.C108S	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	108	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGGGAATAAGTGTCAGAAAGG	0.537000													16	34					0	0	0.004990	0	0
TBX15	6913	broad.mit.edu	37	1	119428085	119428085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:119428085G>A	ENST00000369429.3	-	8	1088	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	TBX15_ENST00000207157.3_Missense_Mutation_p.S254L			Q96SF7	TBX15_HUMAN	T-box 15	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGAAGAAGCCGAAGGGGATGG	0.478000													4	11					0	0	0.000248	0	0
ZC3H14	79882	broad.mit.edu	37	14	89061316	89061316	+	Silent	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:89061316A>T	ENST00000555900.1	+	1	558	c.246A>T	c.(244-246)tcA>tcT	p.S82S	ZC3H14_ENST00000251038.5_Intron|ZC3H14_ENST00000318308.6_Silent_p.S82S|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000406216.3_Silent_p.S82S|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000302216.8_Intron			Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	299						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CAAAAATTTCATCTTTGGAGG	0.313000													9	32					0	0	0.004482	0	0
OR4A5	81318	broad.mit.edu	37	11	51411637	51411637	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:51411637G>A	ENST00000319760.6	-	1	811	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TAACATATATGAAAATACAGG	0.393000													4	14					0	0	0.000248	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64627543	64627543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:64627543G>A	ENST00000498707.1	-	12	2179	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.R585*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	613	TSP type-1 1.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGCACTCTCGAATGGCTGTT	0.473000													151	321					0	0	0.003610	0	0
CBX4	8535	broad.mit.edu	37	17	77808070	77808070	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:77808070G>A	ENST00000269397.4	-	5	1548	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	457	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGGGCTGCGGGAGGGCGGCGG	0.716000													5	14					0	0	0.000602	0	0
SLC12A5	57468	broad.mit.edu	37	20	44684844	44684844	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:44684844A>G	ENST00000454036.1	+	22	2988	c.2912A>G	c.(2911-2913)aAc>aGc	p.N971S	SLC12A5_ENST00000243964.3_Missense_Mutation_p.N948S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	971					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)	AATCCAGCCAACACGCGGCTC	0.572000													31	40					0	0	0.002445	0	0
DOCK2	1794	broad.mit.edu	37	5	169108785	169108785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:169108785G>A	ENST00000256935.8	+	7	588	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	170					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	p.G170R(3)		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)			AGATGAAGACGGAAATATCTT	0.413000													9	92					0	0	0.000443	0	0
ACD	65057	broad.mit.edu	37	16	67694047	67694047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:67694047G>A	ENST00000219251.8	-	1	666	c.335C>T	c.(334-336)cCa>cTa	p.P112L	ACD_ENST00000393919.4_Missense_Mutation_p.P112L	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	112					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCCGGCTCGTGGACTGGAGGG	0.692000													16	28					0	0	0.004007	0	0
ZNF148	7707	broad.mit.edu	37	3	124952124	124952124	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:124952124G>A	ENST00000360647.4	-	9	1931	c.1446C>T	c.(1444-1446)aaC>aaT	p.N482N	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Silent_p.N482N|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Silent_p.N482N|ZNF148_ENST00000484491.1_Silent_p.N482N	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	482					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CCCTGCTGTTGTTACTTGCTG	0.453000													22	35					0	0	0.001523	0	0
KIF1C	10749	broad.mit.edu	37	17	4926874	4926874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:4926874C>T	ENST00000320785.5	+	23	3097	c.2740C>T	c.(2740-2742)Ccc>Tcc	p.P914S		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	914					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						AGCCCGGCCCCCCTCGCCACC	0.662000													20	15					0	0	0.002299	0	0
C3orf20	84077	broad.mit.edu	37	3	14814316	14814316	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:14814316G>A	ENST00000253697.3	+	17	3101	c.2649G>A	c.(2647-2649)gtG>gtA	p.V883V	C3orf20_ENST00000412910.1_Silent_p.V761V|C3orf20_ENST00000435614.1_Silent_p.V761V	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	883						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGCCTGAAGTGGAGCTACATC	0.587000													16	22					0	0	0.004990	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631543	141631543	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:141631543G>A	ENST00000546910.1	-	6	625	c.429C>T	c.(427-429)atC>atT	p.I143I	CLEC5A_ENST00000551012.2_Silent_p.I120I|CLEC5A_ENST00000438351.1_Silent_p.I120I|CLEC5A_ENST00000470595.1_5'UTR|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000439991.1_Silent_p.I39I	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	143	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					CAGAGTTGTTGATCCAACGCC	0.408000													29	64					0	0	0.003755	0	0
CHI3L2	1117	broad.mit.edu	37	1	111778695	111778695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:111778695G>A	ENST00000445067.2	+	9	1426	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	CHI3L2_ENST00000369744.2_Missense_Mutation_p.E209K|CHI3L2_ENST00000466741.1_Missense_Mutation_p.E140K|CHI3L2_ENST00000369748.4_Missense_Mutation_p.E219K|CHI3L2_ENST00000524472.1_Missense_Mutation_p.E140K			Q15782	CH3L2_HUMAN	chitinase 3-like 2	219					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TGGGTCTTGGGAAAAGCCCCT	0.517000													69	145					0	0	0.003610	0	0
EIF2B3	8891	broad.mit.edu	37	1	45347380	45347380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:45347380G>A	ENST00000360403.2	-	7	814	c.688C>T	c.(688-690)Cca>Tca	p.P230S	EIF2B3_ENST00000372183.3_Missense_Mutation_p.P230S	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	230					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					ACTAAATATGGAATCAGTTCA	0.408000													43	62					0	0	0.002222	0	0
DEFA6	1671	broad.mit.edu	37	8	6782385	6782385	+	Silent	SNP	C	C	T	rs61745836	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:6782385C>T	ENST00000297436.2	-	2	298	c.258G>A	c.(256-258)ggG>ggA	p.G86G		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	86					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CAGTGCAGGTCCCATAGGAAT	0.428000													32	45					0	0	0.003271	0	0
CARD11	84433	broad.mit.edu	37	7	2959206	2959206	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:2959206G>A	ENST00000396946.4	-	18	2713	c.2310C>T	c.(2308-2310)atC>atT	p.I770I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	770					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCCCCGATGTGATCAGGCCGT	0.587000			Mis		DLBCL								4	15					0	0	0.000602	0	0
OR4K17	390436	broad.mit.edu	37	14	20585705	20585705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20585705G>A	ENST00000315543.4	+	1	140	c.140G>A	c.(139-141)gGa>gAa	p.G47E		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATTTTGCTGGGACTGACCAGC	0.428000													22	109					0	0	0.003330	0	0
COL4A4	1286	broad.mit.edu	37	2	227924234	227924234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:227924234C>T	ENST00000396625.3	-	28	2477	c.2270G>A	c.(2269-2271)gGa>gAa	p.G757E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G757E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	757	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCCGGGATTCCTTTCTGACC	0.607000													38	54					0	0	0.004878	0	0
AMFR	267	broad.mit.edu	37	16	56397846	56397846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:56397846G>A	ENST00000290649.5	-	13	1981	c.1771C>T	c.(1771-1773)Cag>Tag	p.Q591*		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	591					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CGAGCTTGCTGGAGGAGTTCG	0.547000													11	31					0	0	0.000978	0	0
DPYSL3	1809	broad.mit.edu	37	5	146798162	146798162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:146798162C>T	ENST00000343218.5	-	3	700	c.503G>A	c.(502-504)gGa>gAa	p.G168E	DPYSL3_ENST00000398514.3_Missense_Mutation_p.G54E|DPYSL3_ENST00000534907.1_Intron	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	54					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTTCACTCCTCCAGGAAC	0.408000													33	57					0	0	0.003755	0	0
SYNE1	23345	broad.mit.edu	37	6	152826341	152826341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:152826341G>A	ENST00000367255.5	-	9	1374	c.773C>T	c.(772-774)cCt>cTt	p.P258L	SYNE1_ENST00000367253.4_Missense_Mutation_p.P258L|SYNE1_ENST00000367248.3_Missense_Mutation_p.P265L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P265L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P265L|SYNE1_ENST00000466159.2_Missense_Mutation_p.P258L|SYNE1_ENST00000413186.2_Missense_Mutation_p.P258L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P258L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P258L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	258	Actin-binding.|CH 2.				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)		CCTACCTTCAGGATCTAGCAG	0.428000										HNSCC(10;0.0054)			18	29					0	0	0.000958	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626350	140626350	+	Silent	SNP	A	A	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140626350A>C	ENST00000231173.3	+	1	1204	c.1204A>C	c.(1204-1206)Agg>Cgg	p.R402R		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		402	Cadherin 4.				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)			GAATTTCTACAGGCTGGTAAC	0.463000													25	35					0	0	0.003330	0	0
TLE6	79816	broad.mit.edu	37	19	2989603	2989603	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:2989603A>G	ENST00000246112.4	+	13	1265	c.1064A>G	c.(1063-1065)aAc>aGc	p.N355S	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Missense_Mutation_p.N232S	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	232					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		GGTGGCTACAACCTGGCCAGC	0.652000													4	27					0	0	0.000248	0	0
KLF8	11279	broad.mit.edu	37	X	56291640	56291640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:56291640C>T	ENST00000374928.3	+	4	595	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S	KLF8_ENST00000468660.1_Missense_Mutation_p.P37S	NM_001159296.1	NP_001152768.1	O95600	KLF8_HUMAN	Kruppel-like factor 8	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GAACAGAGATCCCCCTGAGAT	0.418000													4	1					0	0	0.000248	0	0
LAMP5	24141	broad.mit.edu	37	20	9510386	9510386	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:9510386G>A	ENST00000246070.2	+	6	1254	c.762G>A	c.(760-762)gcG>gcA	p.A254A	LAMP5_ENST00000427562.2_Silent_p.A210A	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	254						integral to membrane											TAACACTCGCGATTTACCACG	0.547000													24	40					0	0	0.004656	0	0
PMS2	5395	broad.mit.edu	37	7	6042170	6042170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:6042170G>A	ENST00000265849.7	-	5	556	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	PMS2_ENST00000382321.4_Missense_Mutation_p.R151C|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.R151C|PMS2_ENST00000441476.2_Missense_Mutation_p.R45C	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	151					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CCTCTGGGGCGGGGGTAGGGG	0.473000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				52	112					0	0	0.003610	0	0
STOML2	30968	broad.mit.edu	37	9	35100991	35100991	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:35100991G>A	ENST00000356493.5	-	8	804	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	STOML2_ENST00000452248.2_Silent_p.L203L	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	248						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCCTTCGCCAGAACTGCACTG	0.542000													67	130					0	0	0.003610	0	0
PARP15	165631	broad.mit.edu	37	3	122354670	122354670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:122354670G>A	ENST00000483793.1	+	9	1215	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000464300.2_Missense_Mutation_p.G587E|PARP15_ENST00000493645.1_Missense_Mutation_p.G284E|PARP15_ENST00000310366.4_Missense_Mutation_p.G353E			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	565	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	p.G353E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GTATCCTATGGAAAAGGAACC	0.403000													20	37					0	0	0.001216	0	0
PDE3A	5139	broad.mit.edu	37	12	20807040	20807040	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:20807040G>T	ENST00000359062.3	+	15	3125	c.3085G>T	c.(3085-3087)Gac>Tac	p.D1029Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1029	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)	ATGGGTGGAAGACAGCGATGA	0.478000													27	43					1.13719e-10	2.37521e-10	0.001512	1	0
TECPR2	9895	broad.mit.edu	37	14	102963977	102963977	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:102963977C>T	ENST00000359520.7	+	19	4228	c.4002C>T	c.(4000-4002)gcC>gcT	p.A1334A		NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1334							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GAGACCTCGCCCGGCGGTACG	0.677000													3	7					0	0	0.000248	0	0
ADAM21	8747	broad.mit.edu	37	14	70925538	70925538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:70925538G>A	ENST00000603540.1	+	2	1580	c.1322G>A	c.(1321-1323)aGg>aAg	p.R441K	ADAM21_ENST00000267499.3_Missense_Mutation_p.R441K|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	441	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGCACTCTAAGGCCTGGGGCT	0.507000													5	14					0	0	0.001168	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349343	103349343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:103349343G>A	ENST00000357421.4	-	2	778	c.598C>T	c.(598-600)Cag>Tag	p.Q200*		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	200					transport	integral to membrane|mitochondrial inner membrane											AGGCCATCCTGGATGGGGTCC	0.557000													65	19					0	0	0.003610	0	0
GCK	2645	broad.mit.edu	37	7	44189570	44189570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:44189570C>T	ENST00000403799.3	-	5	1046	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	GCK_ENST00000395796.3_Missense_Mutation_p.G192R|GCK_ENST00000437084.1_Missense_Mutation_p.G176R|GCK_ENST00000345378.2_Missense_Mutation_p.G194R	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	193					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CCCCTCACCCCTCTCCGTTTG	0.632000													73	152					0	0	0.003610	0	0
ITPR1	3708	broad.mit.edu	37	3	4842138	4842138	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:4842138C>T	ENST00000354582.6	+	53	7266	c.6916C>T	c.(6916-6918)Ctg>Ttg	p.L2306L	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Silent_p.L2258L|ITPR1_ENST00000443694.2_Silent_p.L2306L|ITPR1_ENST00000423119.2_Silent_p.L2273L|ITPR1_ENST00000357086.4_Silent_p.L2273L|ITPR1_ENST00000302640.8_Silent_p.L2306L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2321					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTCGGGACTCCTGTGGACAGC	0.537000													27	51					0	0	0.003271	0	0
ZNF527	84503	broad.mit.edu	37	19	37880761	37880761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:37880761C>T	ENST00000436120.2	+	5	1917	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	604					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGAATTCATAATAGAGA	0.343000													31	57					0	0	0.004289	0	0
OR56B1	387748	broad.mit.edu	37	11	5758199	5758199	+	Silent	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5758199A>G	ENST00000317121.3	+	1	519	c.453A>G	c.(451-453)ttA>ttG	p.L151L	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	151					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)		CCTTAATCTTAAAAGCTACCC	0.438000													8	32					0	0	0.004482	0	0
PAPPA	5069	broad.mit.edu	37	9	118949766	118949766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:118949766G>A	ENST00000328252.3	+	2	1118	c.749G>A	c.(748-750)cGg>cAg	p.R250Q		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	250					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACAACTACCGGGGCTACATC	0.572000													38	35					0	0	0.001485	0	0
MDN1	23195	broad.mit.edu	37	6	90406124	90406124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:90406124G>A	ENST00000369393.3	-	60	9453	c.9338C>T	c.(9337-9339)tCg>tTg	p.S3113L	MDN1_ENST00000428876.1_Missense_Mutation_p.S3113L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3113					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.S3113L(1)		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)		CCAAAGCATCGAACTGATGTC	0.512000													7	41					0	0	0.004482	0	0
CHD3	1107	broad.mit.edu	37	17	7808467	7808467	+	Silent	SNP	C	C	T	rs146189491		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:7808467C>T	ENST00000380358.4	+	26	4300	c.4299C>T	c.(4297-4299)ttC>ttT	p.F1433F	CHD3_ENST00000358181.4_Silent_p.F1374F|CHD3_ENST00000330494.7_Silent_p.F1374F	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1374					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|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGAAGACTTCGATGAACGTC	0.512000													32	26					0	0	0.002836	0	0
ATG7	10533	broad.mit.edu	37	3	11374466	11374466	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:11374466T>C	ENST00000354449.3	+	9	813	c.788T>C	c.(787-789)gTt>gCt	p.V263A	ATG7_ENST00000354956.5_Missense_Mutation_p.V263A|ATG7_ENST00000446450.2_Missense_Mutation_p.V224A	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	263					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TTCCAGTCTGTTGAAGTTGTT	0.423000													7	8					0	0	0.001984	0	0
PET112	5188	broad.mit.edu	37	4	152593939	152593939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:152593939G>A	ENST00000263985.6	-	12	1560	c.1520C>T	c.(1519-1521)tCt>tTt	p.S507F	PET112_ENST00000515812.1_Missense_Mutation_p.S466F|PET112_ENST00000507592.1_5'UTR	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	507						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTCCATCACAGAGTGGCAGAG	0.597000													15	22					0	0	0.000958	0	0
LEKR1	389170	broad.mit.edu	37	3	156710999	156710999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:156710999G>A	ENST00000470811.1	+	10	1465	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	LEKR1_ENST00000356539.4_Missense_Mutation_p.E348K			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	57										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGCAGAAAATGAACTGGAGAT	0.328000													37	80					0	0	0.001485	0	0
OR2W3	343171	broad.mit.edu	37	1	248059194	248059194	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:248059194C>T	ENST00000537741.1	+	3	563	c.306C>T	c.(304-306)ttC>ttT	p.F102F	OR2W3_ENST00000360358.3_Silent_p.F102F			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	102					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)			TCCAGCTCTTCCTGTTCCTGG	0.557000													14	83					0	0	0.004007	0	0
SLC7A4	6545	broad.mit.edu	37	22	21386021	21386021	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:21386021G>A	ENST00000382932.2	-	2	148	c.81C>T	c.(79-81)tcC>tcT	p.S27S	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Silent_p.S27S	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	27					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCTCCATGGTGGAGTCCTCCA	0.657000													15	27					0	0	0.006122	0	0
MRPS14	63931	broad.mit.edu	37	1	174983953	174983953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:174983953C>T	ENST00000476371.1	-	3	255	c.239G>A	c.(238-240)cGg>cAg	p.R80Q	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1	O60783	RT14_HUMAN	mitochondrial ribosomal protein S14	80					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						ACAGCTATCCCGGGGGAGGGC	0.483000													32	161					0	0	0.003755	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142379012	142379012	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142379012C>T	ENST00000390398.3	+	0	317																											GGAGCATTTTCCCCTGACCCT	0.498000													21	31					0	0	0.001523	0	0
FAM178A	55719	broad.mit.edu	37	10	102683839	102683839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:102683839C>T	ENST00000238961.3	+	5	1229	c.1081C>T	c.(1081-1083)Ctt>Ttt	p.L361F	FAM178A_ENST00000370269.3_Missense_Mutation_p.L361F|FAM178A_ENST00000370271.3_Missense_Mutation_p.L361F	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	361																	AGAGTCCTTCCTTGAGAAGCG	0.378000													10	21					0	0	0.000673	0	0
THRAP3	9967	broad.mit.edu	37	1	36752234	36752234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:36752234C>T	ENST00000354618.5	+	4	627	c.403C>T	c.(403-405)Cct>Tct	p.P135S	THRAP3_ENST00000469141.2_Missense_Mutation_p.P135S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	135	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGAAGGTCCCCTTCACCAAG	0.542000			T	USP6	aneurysmal bone cysts								93	178					0	0	0.003610	0	0
KCNK10	54207	broad.mit.edu	37	14	88729891	88729891	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:88729891G>A	ENST00000340700.5	-	2	493	c.42C>T	c.(40-42)gcC>gcT	p.A14A	KCNK10_ENST00000312350.5_Silent_p.A19A|KCNK10_ENST00000319231.5_Silent_p.A19A	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	14					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						CTGCGGGAACGGCCACTGAGG	0.557000													23	29					0	0	0.001882	0	0
SLC28A1	9154	broad.mit.edu	37	15	85476404	85476404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:85476404C>T	ENST00000394573.1	+	13	1314	c.1112C>T	c.(1111-1113)tCt>tTt	p.S371F	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.S371F|SLC28A1_ENST00000537216.1_Missense_Mutation_p.S371F|SLC28A1_ENST00000537624.1_Missense_Mutation_p.S371F	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	371					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATTGCAGCCTCTGTGATGGCT	0.567000													62	108					0	0	0.003610	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036029	60036029	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:60036029G>A	ENST00000586569.1	+	9	917	c.879G>A	c.(877-879)aaG>aaA	p.K293K	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	293					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|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 JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGGAGGAGAAGACATTTCCAG	0.532000													4	62					0	0	0.000248	0	0
TNFSF8	944	broad.mit.edu	37	9	117666403	117666403	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:117666403C>T	ENST00000223795.2	-	4	626	c.513G>A	c.(511-513)caG>caA	p.Q171Q	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	171					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TCACCAGGGCCTGTTTTTTGA	0.423000													32	34					0	0	0.002096	0	0
SCARB2	950	broad.mit.edu	37	4	77100829	77100829	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:77100829G>A	ENST00000264896.2	-	4	802	c.453C>T	c.(451-453)ttC>ttT	p.F151F	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	151					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TCTCCCTGAGGAAGTGCACCT	0.502000											OREG0016231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	41					0	0	0.003610	0	0
DHTKD1	55526	broad.mit.edu	37	10	12129721	12129721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:12129721C>T	ENST00000263035.4	+	4	772	c.710C>T	c.(709-711)cCt>cTt	p.P237L	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	237					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTGCAGTTCCCTCCAGAGGTA	0.448000													77	161					0	0	0.003610	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183090	102183090	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:102183090C>T	ENST00000306176.1	+	7	904	c.804C>T	c.(802-804)ttC>ttT	p.F268F	ZPLD1_ENST00000491959.1_Silent_p.F252F|ZPLD1_ENST00000466937.1_Silent_p.F252F	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	252	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGATCTTTTCCTTAGGTAAG	0.313000													43	93					0	0	0.002222	0	0
CCDC73	493860	broad.mit.edu	37	11	32720870	32720870	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:32720870C>T	ENST00000531481.1	-	6	593	c.315_splice	c.e6-1	p.G106_splice	CCDC73_ENST00000335185.5_Splice_Site_p.G106_splice|CCDC73_ENST00000534415.1_5'UTR			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	106										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTGATATTTTCCCTTTAAGTA	0.259000													5	23					0	0	0.000602	0	0
WFDC10B	280664	broad.mit.edu	37	20	44314629	44314629	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:44314629C>T	ENST00000330523.5	-	3	233	c.3G>A	c.(1-3)atG>atA	p.M1I	WFDC10B_ENST00000335769.2_Intron	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	1						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TCTGGGGTGCCATAACTCTGA	0.557000													5	16					0	0	0.000602	0	0
IQGAP3	128239	broad.mit.edu	37	1	156498311	156498311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:156498311G>A	ENST00000361170.2	-	36	4673	c.4663C>T	c.(4663-4665)Ccc>Tcc	p.P1555S		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1555					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAGAGGCGGGAAGATCTTCA	0.542000													15	85					0	0	0.003163	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691002	39691002	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:39691002C>T	ENST00000339852.4	+	5	587	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	189	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGACAGCCGGCTGGATGCGTG	0.652000													25	108					0	0	0.002445	0	0
CHM	1121	broad.mit.edu	37	X	85212875	85212875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:85212875G>A	ENST00000357749.2	-	7	954	c.925C>T	c.(925-927)Cct>Tct	p.P309S	CHM_ENST00000537751.1_Missense_Mutation_p.P161S|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	309					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TATTCATCAGGATATTTCTCA	0.303000													19	10					0	0	0.002780	0	0
SAMD9	54809	broad.mit.edu	37	7	92731710	92731710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:92731710C>T	ENST00000379958.2	-	3	3970	c.3701G>A	c.(3700-3702)gGa>gAa	p.G1234E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1234						cytoplasm		p.G1234V(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCACTACTTCCTGATACAAA	0.294000													42	100					0	0	0.002852	0	0
TAAR6	319100	broad.mit.edu	37	6	132891895	132891895	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:132891895C>T	ENST00000275198.1	+	1	435	c.435C>T	c.(433-435)acC>acT	p.T145T		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	145						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CCAAGTTCACCGTATCTGTGT	0.502000													82	145					0	0	0.003610	0	0
CORIN	10699	broad.mit.edu	37	4	47605664	47605664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:47605664C>T	ENST00000273857.4	-	20	2561	c.2562G>A	c.(2560-2562)tgG>tgA	p.W854*	CORIN_ENST00000502252.1_Nonsense_Mutation_p.W787*|CORIN_ENST00000505909.1_Nonsense_Mutation_p.W817*|CORIN_ENST00000508498.1_Nonsense_Mutation_p.W715*	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	854	Peptidase S1.			W -> R (in Ref. 4; AAF21966).	peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GCACCACTTTCCAAACTGCAG	0.398000													18	22					0	0	0.001216	0	0
COL28A1	340267	broad.mit.edu	37	7	7495724	7495724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:7495724C>T	ENST00000399429.3	-	16	1462	c.1322G>A	c.(1321-1323)gGa>gAa	p.G441E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	441					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCTTGGGGTCCCACAGGTCC	0.428000													16	58					0	0	0.001216	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157377	65157377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:65157377G>A	ENST00000323544.4	+	6	891	c.763G>A	c.(763-765)Gac>Aac	p.D255N	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	255	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCAGAGGAGGACAGTGGCTC	0.642000													19	42					0	0	0.001216	0	0
LRP5	4041	broad.mit.edu	37	11	68181183	68181183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:68181183G>A	ENST00000294304.7	+	12	2636	c.2530G>A	c.(2530-2532)Gat>Aat	p.D844N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	844	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						GATTGCCGACGATCTCCCGCA	0.617000													25	38					0	0	0.004656	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442776	25442776	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:25442776C>T	ENST00000424208.1	+	0	1636				SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.483000													109	186					0	0	0.003610	0	0
ADAM7	8756	broad.mit.edu	37	8	24350607	24350607	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:24350607C>T	ENST00000175238.6	+	16	1790	c.1707C>T	c.(1705-1707)ctC>ctT	p.L569L	RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Silent_p.L341L|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Silent_p.L569L	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	569	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTCCTCTCTCCTTGGAGAAG	0.398000													21	35					0	0	0.005443	0	0
TGM6	343641	broad.mit.edu	37	20	2384303	2384303	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:2384303C>T	ENST00000202625.2	+	9	1231	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TGM6_ENST00000381423.1_Silent_p.F390F	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	390					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.F390L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGGCCCCTTCGTGTTTGCGG	0.617000													27	52					0	0	0.003954	0	0
SYNE1	23345	broad.mit.edu	37	6	152841605	152841605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:152841605C>T	ENST00000367255.5	-	6	899	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	SYNE1_ENST00000367253.4_Missense_Mutation_p.E100K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E100K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E100K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E100K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E100K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E100K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E100K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E100K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	100	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.E100K(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)		TTTCTTCCTTCGAGGAACTTG	0.443000										HNSCC(10;0.0054)			25	50					0	0	0.001061	0	0
BRWD1	54014	broad.mit.edu	37	21	40571568	40571568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:40571568C>T	ENST00000342449.3	-	40	4852	c.4774G>A	c.(4774-4776)Gga>Aga	p.G1592R	BRWD1_ENST00000380800.3_Missense_Mutation_p.G1592R|BRWD1_ENST00000333229.2_Missense_Mutation_p.G1592R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGCCACATCCATTTGCTAAT	0.303000											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	39					0	0	0.001523	0	0
CES3	23491	broad.mit.edu	37	16	67006379	67006379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:67006379C>T	ENST00000303334.4	+	11	1483	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L	CES3_ENST00000543856.1_Missense_Mutation_p.P110L|CES3_ENST00000394037.1_Missense_Mutation_p.P471L	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	471						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.P471F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TTCGGAGGTCCCTTCCTCATG	0.582000													39	91					0	0	0.001706	0	0
FOXI1	2299	broad.mit.edu	37	5	169533504	169533504	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:169533504C>T	ENST00000449804.2	+	1	588	c.543C>T	c.(541-543)ttC>ttT	p.F181F	FOXI1_ENST00000306268.6_Silent_p.F181F	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	181					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACGACTGCTTCAAGAAGGTGC	0.587000									Pendred syndrome				10	9					0	0	0.002450	0	0
C1orf127	148345	broad.mit.edu	37	1	11017675	11017675	+	Missense_Mutation	SNP	C	C	T	rs12567143		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:11017675C>T	ENST00000377004.4	-	7	690	c.691G>A	c.(691-693)Gag>Aag	p.E231K	C1orf127_ENST00000377008.4_Missense_Mutation_p.E82K	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	82										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCACTGACCTCCCACCTCTGA	0.587000													17	16					0	0	0.000958	0	0
SAGE1	55511	broad.mit.edu	37	X	134994548	134994548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:134994548G>A	ENST00000535938.1	+	19	2757	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	SAGE1_ENST00000324447.3_Missense_Mutation_p.E864K|SAGE1_ENST00000537770.1_Missense_Mutation_p.E488K|SAGE1_ENST00000370709.3_Missense_Mutation_p.E864K	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	864										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ACAATTTGTTGAATTTACCAT	0.348000													70	23					0	0	0.003610	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474589	140474589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140474589G>A	ENST00000194155.4	+	1	363	c.215G>A	c.(214-216)gGa>gAa	p.G72E		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		72	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTCCAAAGGAAAAAAAATG	0.522000													11	69					0	0	0.002450	0	0
MLC1	23209	broad.mit.edu	37	22	50500043	50500043	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:50500043C>T	ENST00000311597.5	-	12	1709	c.1103G>A	c.(1102-1104)tGg>tAg	p.W368*	MLC1_ENST00000450140.2_Nonsense_Mutation_p.W316*|MLC1_ENST00000535444.1_Nonsense_Mutation_p.W289*|MLC1_ENST00000431262.2_Nonsense_Mutation_p.W338*|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000538737.1_Nonsense_Mutation_p.W334*|MLC1_ENST00000395876.2_Nonsense_Mutation_p.W368*	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	368						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)		GACGGCTCTCCAGGCTTTCTC	0.632000													17	51					0	0	0.001882	0	0
ELOVL1	64834	broad.mit.edu	37	1	43830265	43830265	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:43830265G>A	ENST00000372458.3	-	6	546	c.429C>T	c.(427-429)ttC>ttT	p.F143F	ELOVL1_ENST00000413844.2_Silent_p.F116F|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	143					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGAGTGATGGAAGACATGTA	0.557000													19	78					0	0	0.001216	0	0
USP29	57663	broad.mit.edu	37	19	57642603	57642603	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:57642603T>C	ENST00000254181.4	+	4	3014	c.2560T>C	c.(2560-2562)Ttc>Ctc	p.F854L	USP29_ENST00000598197.1_Missense_Mutation_p.F854L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	854					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCAGGCCTGGTTCACATACAA	0.468000													17	44					0	0	0.006122	0	0
UPK3B	80761	broad.mit.edu	37	7	76140982	76140982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:76140982G>A	ENST00000419923.2	+	2	634	c.409G>A	c.(409-411)Ggc>Agc	p.G137S	UPK3B_ENST00000443097.2_Missense_Mutation_p.G82S|UPK3B_ENST00000257632.5_Missense_Mutation_p.G137S|UPK3B_ENST00000448265.3_Missense_Mutation_p.G137S|UPK3B_ENST00000334348.3_Missense_Mutation_p.G82S|UPK3B_ENST00000394849.1_Missense_Mutation_p.G82S			Q9BT76	UPK3B_HUMAN	uroplakin 3B	137					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				AGCCTCCAGGGGCTTCCAGAA	0.622000													8	8					0	0	0.000673	0	0
FRMD1	79981	broad.mit.edu	37	6	168475947	168475947	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:168475947G>A	ENST00000283309.6	-	2	346	c.282C>T	c.(280-282)ttC>ttT	p.F94F	FRMD1_ENST00000440994.2_Silent_p.F26F	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	94	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)		AGAGGCCAAAGAACTGCGCGT	0.612000													19	41					0	0	0.003330	0	0
FGF4	2249	broad.mit.edu	37	11	69588793	69588793	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:69588793G>A	ENST00000168712.1	-	2	761	c.444_splice	c.e2+1	p.S148_splice	FGF4_ENST00000538040.1_Intron	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	148					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	GGTACTCACCGAGCCATAGAG	0.652000													4	21					0	0	0.000602	0	0
PDE6B	5158	broad.mit.edu	37	4	659089	659089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:659089G>A	ENST00000255622.6	+	19	2282	c.2239G>A	c.(2239-2241)Gaa>Aaa	p.E747K	PDE6B_ENST00000496514.1_Missense_Mutation_p.E747K|PDE6B_ENST00000429163.2_Missense_Mutation_p.E468K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	747					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AGGTGACTTGGAAAGGACAGT	0.587000													13	61					0	0	0.004990	0	0
THSD7A	221981	broad.mit.edu	37	7	11485934	11485934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:11485934C>T	ENST00000423059.3	-	13	3069	c.2818G>A	c.(2818-2820)Gaa>Aaa	p.E940K	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	940	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTACATTTTTCCTTCTTTTTA	0.353000										HNSCC(18;0.044)			9	28					0	0	0.000673	0	0
HDAC5	10014	broad.mit.edu	37	17	42156613	42156613	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:42156613G>A	ENST00000225983.6	-	24	3303	c.2980C>T	c.(2980-2982)Ctg>Ttg	p.L994L	HDAC5_ENST00000586802.1_Silent_p.L993L|HDAC5_ENST00000336057.5_Silent_p.L908L|HDAC5_ENST00000393622.2_Silent_p.L993L			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	993	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCCCCTGCCAGGGTCATCAGC	0.557000													15	29					0	0	0.006122	0	0
EPB41L2	2037	broad.mit.edu	37	6	131188660	131188660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:131188660G>A	ENST00000337057.3	-	16	2850	c.2669C>T	c.(2668-2670)tCc>tTc	p.S890F	EPB41L2_ENST00000529208.1_Missense_Mutation_p.S820F|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S632F|EPB41L2_ENST00000524581.1_Missense_Mutation_p.S268F|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S737F|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S632F|EPB41L2_ENST00000530757.1_Missense_Mutation_p.S119F|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S890F|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S820F|EPB41L2_ENST00000392427.3_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	890	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTCCTTGGTGGAGATTTCTGT	0.428000													15	60					0	0	0.003163	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747514	68747514	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:68747514C>T	ENST00000309106.3	-	1	941	c.942G>A	c.(940-942)gtG>gtA	p.V314V		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	314						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CATTGGTGCCCACGGTGGGCG	0.687000													16	29					0	0	0.003163	0	0
CPXM2	119587	broad.mit.edu	37	10	125530445	125530445	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:125530445C>T	ENST00000241305.3	-	8	1243	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	363					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTTCATGCTCCCCAGGGTGAT	0.478000													47	145					0	0	0.003610	0	0
STK19	8859	broad.mit.edu	37	6	31939975	31939975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:31939975C>T	ENST00000375331.2	+	1	368	c.202C>T	c.(202-204)Cct>Tct	p.P68S	DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.P68S|DOM3Z_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	68						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						TGGGGCCCGGCCTGGCGGAGG	0.706000													8	19					0	0	0.003080	0	0
CS	1431	broad.mit.edu	37	12	56679769	56679769	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:56679769C>T	ENST00000351328.3	-	3	322	c.132G>A	c.(130-132)gaG>gaA	p.E44E	CS_ENST00000542324.2_Silent_p.E31E|RP11-977G19.10_ENST00000549318.1_Silent_p.E240E|CS_ENST00000548567.1_5'UTR	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	44					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		TTCTGGCCTGCTCCTTAGGTA	0.428000													47	199					0	0	0.003610	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221363	140221363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140221363C>T	ENST00000531613.1	+	1	457	c.457C>T	c.(457-459)Ccg>Tcg	p.P153S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P153S|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCGGTTTCCGCTAGAGGG	0.478000													16	79					0	0	0.003163	0	0
LMTK2	22853	broad.mit.edu	37	7	97833295	97833295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:97833295C>T	ENST00000297293.5	+	13	4573	c.4280C>T	c.(4279-4281)cCt>cTt	p.P1427L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1427					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)					TCCCCAGATCCTTTTATGTCA	0.507000													80	113					0	0	0.003610	0	0
ABCC6	368	broad.mit.edu	37	16	16282697	16282697	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:16282697G>A	ENST00000205557.7	-	13	1799	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	590	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCTGGACGAGGGAGTGGATGG	0.577000													10	17					0	0	0.000673	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676240	37676240	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:37676240C>T	ENST00000532828.2	-	5	2450	c.2199G>A	c.(2197-2199)ttG>ttA	p.L733L	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Silent_p.L678L|ZNF585B_ENST00000312908.5_Silent_p.L321L	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTTTATTCAAATTGGACC	0.458000													48	66					0	0	0.003610	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67222706	67222706	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:67222706C>T	ENST00000314586.6	-	4	585	c.345G>A	c.(343-345)caG>caA	p.Q115Q	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	115	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCTCTAGAGTCTGTAAGGCCT	0.677000													25	29					0	0	0.003954	0	0
HEPH	9843	broad.mit.edu	37	X	65413379	65413379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:65413379G>A	ENST00000519389.1	+	8	1609	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	HEPH_ENST00000336279.5_Missense_Mutation_p.R156Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R426Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R426Q|HEPH_ENST00000343002.2_Missense_Mutation_p.R423Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R426Q			Q9BQS7	HEPH_HUMAN	hephaestin	423	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGCTCCAGCCGAATTGGGGGC	0.398000													13	9					0	0	0.002450	0	0
CYTIP	9595	broad.mit.edu	37	2	158300411	158300411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:158300411C>T	ENST00000264192.3	-	1	243	c.122G>A	c.(121-123)aGg>aAg	p.R41K	CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	41					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CATTTGAATCCTTCTATTATC	0.502000													33	47					0	0	0.004289	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701997	96701997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:96701997C>T	ENST00000260682.6	+	3	392	c.380C>T	c.(379-381)tCc>tTc	p.S127F	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	127					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)	CGGCGTTTCTCCCTCATGACG	0.498000													9	14					0	0	0.000443	0	0
OR52K2	119774	broad.mit.edu	37	11	4470782	4470782	+	Silent	SNP	C	C	T	rs143954018		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4470782C>T	ENST00000325719.4	+	1	258	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	71					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)		TGGCAGCCATCGACCTGGTCC	0.532000													29	60					0	0	0.001786	0	0
KMO	8564	broad.mit.edu	37	1	241695763	241695763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:241695763C>T	ENST00000366559.4	+	1	330	c.19C>T	c.(19-21)Caa>Taa	p.Q7*	KMO_ENST00000366558.3_Nonsense_Mutation_p.Q7*|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Nonsense_Mutation_p.Q7*	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	7					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ATCTGTCATTCAAAGGAAAAA	0.353000													14	48					0	0	0.004990	0	0
CLASP1	23332	broad.mit.edu	37	2	122285422	122285422	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:122285422G>A	ENST00000263710.4	-	5	812	c.423C>T	c.(421-423)ttC>ttT	p.F141F	CLASP1_ENST00000397587.3_Silent_p.F141F|CLASP1_ENST00000541377.1_Silent_p.F141F|CLASP1_ENST00000455322.2_Silent_p.F141F|CLASP1_ENST00000409078.3_Silent_p.F141F	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	141					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTCGAGTACGGAAATTCTTGT	0.438000													21	46					0	0	0.003954	0	0
SMG7	9887	broad.mit.edu	37	1	183506317	183506317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:183506317C>T	ENST00000367537.3	+	12	1483	c.1288C>T	c.(1288-1290)Cat>Tat	p.H430Y	SMG7_ENST00000347615.2_Missense_Mutation_p.H401Y|SMG7_ENST00000515829.2_Missense_Mutation_p.H401Y|SMG7_ENST00000507469.1_Missense_Mutation_p.H401Y|SMG7_ENST00000456731.2_Missense_Mutation_p.H359Y|SMG7_ENST00000508461.1_Missense_Mutation_p.H359Y			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	401					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAATAGTTTCCATCCCCATGA	0.388000													23	100					0	0	0.001512	0	0
GABRG3	2567	broad.mit.edu	37	15	27572135	27572135	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:27572135C>T	ENST00000333743.6	+	4	704	c.450C>T	c.(448-450)ctC>ctT	p.L150L	GABRG3_ENST00000555083.1_Silent_p.L150L	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	150					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCAATCAGCTCCTCCGGATTT	0.453000													16	34					0	0	0.004990	0	0
OR10T2	128360	broad.mit.edu	37	1	158368941	158368941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158368941G>A	ENST00000334438.1	-	1	315	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GCAAAGCCAAGGAAAAAGAAC	0.493000													30	21					0	0	0.001271	0	0
FGD6	55785	broad.mit.edu	37	12	95488460	95488460	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:95488460C>A	ENST00000343958.4	-	15	3731	c.3508G>T	c.(3508-3510)Gaa>Taa	p.E1170*	FGD6_ENST00000549499.1_Nonsense_Mutation_p.E1170*|FGD6_ENST00000546711.1_Nonsense_Mutation_p.E1170*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1170	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.E1170*(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCATCCCTTTCTGTGGCAGAA	0.423000													56	73					1.48341e-19	3.1176e-19	0.003610	1	0
GMDS	2762	broad.mit.edu	37	6	1742737	1742737	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:1742737G>A	ENST00000380815.4	-	8	1124	c.855C>T	c.(853-855)gtC>gtT	p.V285V	GMDS_ENST00000530927.1_Silent_p.V255V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	285					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ATGATTTCTCGACAAATTCCC	0.463000													11	49					0	0	0.000673	0	0
JUP	3728	broad.mit.edu	37	17	39920986	39920986	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:39920986G>A	ENST00000393931.3	-	7	1255	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.L379L|JUP_ENST00000310706.5_Silent_p.L379L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	379					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)		CCACATCTGAGAGGTTGCGCA	0.647000													11	21					0	0	0.001368	0	0
RP1	6101	broad.mit.edu	37	8	55537893	55537893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:55537893C>T	ENST00000220676.1	+	4	1599	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	484					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)			GGACAGTTTTCATATAGTGAA	0.373000													6	38					0	0	0.001168	0	0
OR8S1	341568	broad.mit.edu	37	12	48919535	48919535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:48919535G>A	ENST00000310194.1	+	1	121	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E41K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GACCATAATGGAAAACCTGAT	0.512000													57	92					0	0	0.003610	0	0
SCAND3	114821	broad.mit.edu	37	6	28543259	28543259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:28543259G>A	ENST00000452236.2	-	3	1840	c.1223C>T	c.(1222-1224)tCa>tTa	p.S408L		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	408	Integrase catalytic.				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						AGACTTTAATGACCGCAAAAA	0.378000													14	28					0	0	0.001855	0	0
SPTBN4	57731	broad.mit.edu	37	19	41025348	41025348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:41025348G>A	ENST00000352632.3	+	16	3030	c.2944G>A	c.(2944-2946)Gaa>Aaa	p.E982K	SPTBN4_ENST00000598249.1_Missense_Mutation_p.E982K|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E982K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E982K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E982K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	982					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)			GCGCAAAGAGGAAATGAGCGC	0.657000													15	17					0	0	0.004007	0	0
NMS	129521	broad.mit.edu	37	2	101093845	101093845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:101093845C>T	ENST00000376865.1	+	5	237	c.230C>T	c.(229-231)aCt>aTt	p.T77I		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	77					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TACTCCAGAACTCAGGAGGCA	0.393000													14	17					0	0	0.004990	0	0
CD200	4345	broad.mit.edu	37	3	112064089	112064089	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:112064089C>T	ENST00000315711.8	+	3	432	c.375C>T	c.(373-375)acC>acT	p.T125T	CD200_ENST00000473539.1_Silent_p.T150T|CD200_ENST00000383681.3_Silent_p.T51T	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	125	Ig-like V-type.				regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TCTTCAATACCTTTGGTTTTG	0.443000													17	40					0	0	0.002780	0	0
BPIFA2	140683	broad.mit.edu	37	20	31760863	31760863	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:31760863A>G	ENST00000253362.2	+	3	429	c.283A>G	c.(283-285)Act>Gct	p.T95A	BPIFA2_ENST00000354932.5_Missense_Mutation_p.T95A			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	95						extracellular region	lipid binding										GCTGCTTCCAACTAACACGGA	0.448000													4	96					0	0	0.000248	0	0
ZNF560	147741	broad.mit.edu	37	19	9581123	9581123	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9581123C>T	ENST00000301480.4	-	7	606	c.393G>A	c.(391-393)caG>caA	p.Q131Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	131	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACAGGTTTCTCTGAGCTGGGT	0.478000													17	63					0	0	0.004990	0	0
HTR3C	170572	broad.mit.edu	37	3	183777792	183777792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:183777792G>A	ENST00000318351.1	+	8	1136	c.1102G>A	c.(1102-1104)Gga>Aga	p.G368R		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	368						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.G368K(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCCCAGAAGGGAAATAAGGG	0.642000													4	15					0	0	0.000248	0	0
GIT2	9815	broad.mit.edu	37	12	110390905	110390905	+	Missense_Mutation	SNP	G	G	A	rs143551429	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:110390905G>A	ENST00000360185.4	-	13	1398	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	GIT2_ENST00000553118.1_Missense_Mutation_p.R412W|GIT2_ENST00000356259.4_Missense_Mutation_p.R412W|GIT2_ENST00000551209.1_Missense_Mutation_p.R411W|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.R412W|GIT2_ENST00000547815.1_Missense_Mutation_p.R412W|GIT2_ENST00000320063.9_Missense_Mutation_p.R412W|GIT2_ENST00000457474.2_Missense_Mutation_p.R414W|GIT2_ENST00000355312.3_Missense_Mutation_p.R412W|GIT2_ENST00000354574.4_Missense_Mutation_p.R414W|GIT2_ENST00000361006.5_Missense_Mutation_p.R412W			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	412					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						ACCTTCTGCCGGTTTGTTTTG	0.547000													9	51					0	0	0.000443	0	0
SLC41A1	254428	broad.mit.edu	37	1	205760769	205760769	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:205760769G>A	ENST00000367137.3	-	11	2448	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	478						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGTATGGGATGGAGAAGTTGT	0.602000											OREG0014162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	22					0	0	0.002522	0	0
ADAM28	10863	broad.mit.edu	37	8	24181423	24181423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:24181423C>T	ENST00000265769.4	+	9	907	c.797C>T	c.(796-798)aCc>aTc	p.T266I	RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.T266I|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Missense_Mutation_p.T33I|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.T13I|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	266	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATAAAGATAACCCCAAATGCA	0.378000													4	6					0	0	0.000248	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214287	140214287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140214287G>A	ENST00000525929.1	+	1	319	c.319G>A	c.(319-321)Gag>Aag	p.E107K	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.E107K|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACCTGGAGGTGATCGT	0.552000													14	228					0	0	0.001523	0	0
PLBD1	79887	broad.mit.edu	37	12	14706247	14706247	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:14706247T>G	ENST00000240617.5	-	2	867	c.215A>C	c.(214-216)aAc>aCc	p.N72T		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	72					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTTCACAGAGTTATTGTAAAA	0.463000													27	42					0	0	0.004656	0	0
RASAL2	9462	broad.mit.edu	37	1	178442335	178442335	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:178442335C>T	ENST00000448150.3	+	18	4589	c.3771C>T	c.(3769-3771)tcC>tcT	p.S1257S	RASAL2_ENST00000462775.1_Silent_p.S1127S|RASAL2_ENST00000367649.3_Silent_p.S1268S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1127					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCAAGCTTTCCATCACGGAGA	0.542000													39	27					0	0	0.002522	0	0
DNM3	26052	broad.mit.edu	37	1	171956893	171956893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:171956893G>A	ENST00000358155.4	+	3	509	c.333G>A	c.(331-333)atG>atA	p.M111I	DNM3_ENST00000355305.5_Missense_Mutation_p.M111I|DNM3_ENST00000520906.1_Missense_Mutation_p.M111I|DNM3_ENST00000367733.2_Missense_Mutation_p.M111I|DNM3_ENST00000367731.1_Missense_Mutation_p.M111I	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	111					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGACTGGAATGAATAAAGGCA	0.353000													94	80					0	0	0.003610	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301775	42301775	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:42301775C>T	ENST00000357396.3	+	2	560	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Silent_p.L107L|CEACAM3_ENST00000221999.4_Silent_p.L107L	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	107	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CAATGCATCCCTGCTGATCCA	0.453000													43	149					0	0	0.001706	0	0
TRPC7	57113	broad.mit.edu	37	5	135583383	135583383	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:135583383C>T	ENST00000513104.1	-	7	1902	c.1620G>A	c.(1618-1620)tcG>tcA	p.S540S	TRPC7_ENST00000426057.2_Silent_p.S424S|TRPC7_ENST00000355180.3_Silent_p.S479S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	540					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)			AGAGCCCTTCCGATATGATCT	0.522000													6	72					0	0	0.001168	0	0
TRPM6	140803	broad.mit.edu	37	9	77343241	77343241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:77343241C>T	ENST00000451710.3	-	37	6098	c.5861G>A	c.(5860-5862)gGa>gAa	p.G1954E	TRPM6_ENST00000449912.2_Missense_Mutation_p.G1945E|TRPM6_ENST00000360774.1_Missense_Mutation_p.G1950E|TRPM6_ENST00000376872.3_Missense_Mutation_p.G905E|TRPM6_ENST00000376871.3_Missense_Mutation_p.G787E|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1945E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1950	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATTGGCCGGTCCAAACACCAT	0.433000													18	15					0	0	0.004990	0	0
AGBL1	123624	broad.mit.edu	37	15	86807805	86807805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:86807805G>A	ENST00000441037.2	+	10	1360	c.1265G>A	c.(1264-1266)tGg>tAg	p.W422*	AGBL1_ENST00000389298.3_Nonsense_Mutation_p.W153*|AGBL1_ENST00000421325.2_Nonsense_Mutation_p.W422*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	422					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						GCAGATGCCTGGGACGTAGAT	0.443000													24	74					0	0	0.002780	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954472	35954472	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:35954472C>T	ENST00000274278.3	-	7	1761	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	468						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGGTGCGTCGCTCCCCCAG	0.617000													10	19					0	0	0.000443	0	0
ADAM30	11085	broad.mit.edu	37	1	120437739	120437739	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:120437739C>T	ENST00000369400.1	-	1	1379	c.1221G>A	c.(1219-1221)gtG>gtA	p.V407V		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	407	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CATTGTCCTCCACAATTTTGT	0.403000													33	861					0	0	0.002445	0	0
OR4K2	390431	broad.mit.edu	37	14	20345254	20345254	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20345254C>T	ENST00000298642.2	+	1	864	c.828C>T	c.(826-828)acC>acT	p.T276T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	276					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)		TGTTTTATACCATCTTTACTC	0.358000													15	27					0	0	0.004990	0	0
ZNF19	7567	broad.mit.edu	37	16	71509173	71509173	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:71509173G>T	ENST00000288177.5	-	6	1532	c.1277C>A	c.(1276-1278)tCc>tAc	p.S426Y	ZNF19_ENST00000565637.1_Missense_Mutation_p.S384Y|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.S356Y|ZNF19_ENST00000564230.1_Missense_Mutation_p.S426Y	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	426						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		ACCTAGCTGGGAAGAAGTCCC	0.453000													11	41					6.40141e-05	0.000132825	0.000978	1	0
ARID2	196528	broad.mit.edu	37	12	46230691	46230691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:46230691C>T	ENST00000334344.6	+	8	1112	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	ARID2_ENST00000422737.1_Missense_Mutation_p.R165C|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	314					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R314S(1)|p.R314C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TACCTGTCTTCGTTTCCTATT	0.398000			"""N, S, F"""		hepatocellular carcinoma								20	66					0	0	0.000958	0	0
SPRY3	10251	broad.mit.edu	37	X	155003687	155003687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:155003687G>A	ENST00000302805.2	+	2	585	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	52					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCACAAGTCTGATTGGTCTCT	0.562000													54	94					0	0	0.003610	0	0
OR7D2	162998	broad.mit.edu	37	19	9297116	9297116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9297116G>A	ENST00000344248.2	+	1	838	c.659G>A	c.(658-660)cGa>cAa	p.R220Q		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	220					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						TCTTATTCACGAATTGCTTCA	0.463000													31	43					0	0	0.002096	0	0
GPSM1	26086	broad.mit.edu	37	9	139252515	139252515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:139252515G>A	ENST00000440944.1	+	14	2091	c.1871G>A	c.(1870-1872)cGg>cAg	p.R624Q	GPSM1_ENST00000429455.1_Missense_Mutation_p.R115Q|GPSM1_ENST00000392944.1_Missense_Mutation_p.R115Q	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	624					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GTACTGCCCCGGGGCCCTACC	0.687000													16	15					0	0	0.000958	0	0
GJA5	2702	broad.mit.edu	37	1	147230570	147230570	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:147230570C>T	ENST00000271348.2	-	2	938	c.777G>A	c.(775-777)caG>caA	p.Q259Q	GJA5_ENST00000369237.1_Silent_p.Q259Q	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	259					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GTGTGCAGCTCTGGACTATGC	0.532000													28	44					0	0	0.005443	0	0
PTX4	390667	broad.mit.edu	37	16	1535943	1535943	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:1535943G>A	ENST00000447419.2	-	3	1459	c.1434C>T	c.(1432-1434)ccC>ccT	p.P478P	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Silent_p.P473P			Q96A99	PTX4_HUMAN	pentraxin 4, long	478						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						CTCGGCCTCAGGGACAGCGTT	0.657000													4	11					0	0	0.000602	0	0
ZNF426	79088	broad.mit.edu	37	19	9640026	9640026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9640026G>A	ENST00000593003.1	-	6	1058	c.581C>T	c.(580-582)tCc>tTc	p.S194F	ZNF426_ENST00000253115.2_Missense_Mutation_p.S232F|ZNF426_ENST00000535489.1_Missense_Mutation_p.S232F|ZNF426_ENST00000589289.1_3'UTR			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTAATGAAGGATTTTCCACA	0.368000													57	98					0	0	0.003610	0	0
SLAMF7	57823	broad.mit.edu	37	1	160720162	160720162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:160720162C>T	ENST00000368043.3	+	4	755	c.718C>T	c.(718-720)Ctc>Ttc	p.L240F	SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.L133F|SLAMF7_ENST00000359331.4_Missense_Mutation_p.L240F	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	240					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCTGCTCAGTCTCTTTGTACT	0.502000													46	219					0	0	0.003214	0	0
ADAM33	80332	broad.mit.edu	37	20	3655221	3655221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:3655221C>T	ENST00000356518.2	-	6	771	c.530G>A	c.(529-531)gGa>gAa	p.G177E	ADAM33_ENST00000379861.4_Missense_Mutation_p.G177E|ADAM33_ENST00000350009.2_Missense_Mutation_p.G177E	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	177					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCCACAGGTTCCTTTCCAGGT	0.607000													45	85					0	0	0.003610	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642974	1642974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:1642974G>A	ENST00000399682.1	-	1	394	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	117	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCCTTGGAACCCCCACA	0.667000													21	53					0	0	0.004656	0	0
OR13G1	441933	broad.mit.edu	37	1	247835467	247835467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:247835467C>T	ENST00000359688.2	-	1	898	c.877G>A	c.(877-879)Gag>Aag	p.E293K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCCTGCATCTCCCTATTCTGG	0.433000													25	25					0	0	0.003954	0	0
LEPR	3953	broad.mit.edu	37	1	66102375	66102375	+	Missense_Mutation	SNP	G	G	A	rs56117117		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:66102375G>A	ENST00000349533.6	+	20	3360	c.3175G>A	c.(3175-3177)Gaa>Aaa	p.E1059K	LEPR_ENST00000406510.3_Missense_Mutation_p.E126K	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1059					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGGATTGGATGAACTTTTGAA	0.368000													39	68					0	0	0.002852	0	0
C7orf10	79783	broad.mit.edu	37	7	40228112	40228112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:40228112G>A	ENST00000309930.5	+	4	290	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	C7orf10_ENST00000401647.2_Missense_Mutation_p.R89Q|C7orf10_ENST00000540834.1_Missense_Mutation_p.R82Q|C7orf10_ENST00000335693.4_Missense_Mutation_p.R89Q	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	89							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GATGATACACGAACTTGGGGG	0.338000													16	35					0	0	0.002299	0	0
DDX23	9416	broad.mit.edu	37	12	49228130	49228130	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:49228130C>T	ENST00000308025.3	-	12	1612	c.1533G>A	c.(1531-1533)caG>caA	p.Q511Q		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	511	Helicase ATP-binding.					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						GCCTGAAGCCCTGGTCTTCTC	0.512000													15	28					0	0	0.006122	0	0
COL6A6	131873	broad.mit.edu	37	3	130311917	130311917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:130311917G>A	ENST00000358511.6	+	15	4415	c.4384G>A	c.(4384-4386)Gaa>Aaa	p.E1462K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E1462K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1462	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGAAGTTGGGGAAAATGGAAT	0.368000													80	168					0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100683297	100683297	+	Missense_Mutation	SNP	G	G	A	rs141281393	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:100683297G>A	ENST00000306151.4	+	3	8664	c.8600G>A	c.(8599-8601)gGa>gAa	p.G2867E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2867	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTAGTGAAGGAAGTACTCTA	0.493000													106	226					0	0	0.003610	0	0
ABCA4	24	broad.mit.edu	37	1	94564365	94564365	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:94564365G>A	ENST00000370225.3	-	6	839	c.753C>T	c.(751-753)ttC>ttT	p.F251F	ABCA4_ENST00000535735.1_Silent_p.F251F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	251					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGAAGAGCTTGAAGAAGTCCA	0.582000													19	39					0	0	0.006122	0	0
SLC2A5	6518	broad.mit.edu	37	1	9117614	9117614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:9117614C>T	ENST00000377424.4	-	3	365	c.186G>A	c.(184-186)atG>atA	p.M62I	SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Missense_Mutation_p.M62I	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	62					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	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;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGTCTTCCATGAATTCAC	0.443000													16	14					0	0	0.006122	0	0
DNAH5	1767	broad.mit.edu	37	5	13762855	13762855	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13762855T>C	ENST00000265104.4	-	60	10361	c.10257A>G	c.(10255-10257)atA>atG	p.I3419M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3419	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTCTTTGTTTATAGAAAAGA	0.478000									Kartagener syndrome				26	29					0	0	0.001271	0	0
PCDH9	5101	broad.mit.edu	37	13	67800118	67800118	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:67800118T>C	ENST00000544246.1	-	2	3146	c.2455A>G	c.(2455-2457)Atc>Gtc	p.I819V	PCDH9_ENST00000377865.2_Missense_Mutation_p.I819V|PCDH9_ENST00000328454.5_Missense_Mutation_p.I819V|PCDH9_ENST00000456367.1_Missense_Mutation_p.I819V|PCDH9_ENST00000377861.3_Missense_Mutation_p.I819V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	819					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCGGCGATGATGGCAATCATG	0.512000													43	53					0	0	0.003610	0	0
THSD7B	80731	broad.mit.edu	37	2	138033596	138033596	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:138033596G>A	ENST00000409968.1	+	12	2678	c.2500_splice	c.e12+1	p.A834_splice	THSD7B_ENST00000272643.3_Splice_Site_p.A834_splice|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Splice_Site_p.A803_splice					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)		ACAAACAAGAGGTATGATGAT	0.368000													4	4					0	0	0.000248	0	0
TRIM33	51592	broad.mit.edu	37	1	114973461	114973461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:114973461C>A	ENST00000358465.2	-	6	1197	c.1114G>T	c.(1114-1116)Gaa>Taa	p.E372*	TRIM33_ENST00000450349.2_5'UTR|TRIM33_ENST00000369543.2_Nonsense_Mutation_p.E372*	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	372	Necessary for oligomerization.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		TTATTAATTTCATTGATAAGG	0.323000			T	RET	papillary thyroid								52	92					1.13709e-37	2.39934e-37	0.003610	1	0
MUC16	94025	broad.mit.edu	37	19	9088751	9088751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9088751G>A	ENST00000397910.4	-	1	3267	c.3064C>T	c.(3064-3066)Ctc>Ttc	p.L1022F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1022	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						TCTGTTGTGAGGATGGTTGTT	0.468000													33	156					0	0	0.002836	0	0
PKP2	5318	broad.mit.edu	37	12	32996185	32996185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:32996185G>A	ENST00000070846.6	-	6	1465	c.1441C>T	c.(1441-1443)Ccc>Tcc	p.P481S	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	481					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					aaagtgctgggattacaggcg	0.537000													7	28					0	0	0.001984	0	0
POTEG	404785	broad.mit.edu	37	14	19553564	19553564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:19553564G>A	ENST00000409832.3	+	1	200	c.148G>A	c.(148-150)Gac>Aac	p.D50N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	50										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGAGACCACGACGATTCTGC	0.607000													42	527					0	0	0.003610	0	0
THSD7B	80731	broad.mit.edu	37	2	138421075	138421075	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:138421075G>A	ENST00000409968.1	+	26	4759	c.4581G>A	c.(4579-4581)ggG>ggA	p.G1527G	THSD7B_ENST00000272643.3_Silent_p.G1530G|THSD7B_ENST00000413152.2_Silent_p.G1499G					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)		ACCTTTCTGGGAAAAACAGAC	0.363000													4	9					0	0	0.000602	0	0
MKNK2	2872	broad.mit.edu	37	19	2043509	2043509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:2043509C>T	ENST00000250896.3	-	6	656	c.412G>A	c.(412-414)Gga>Aga	p.G138R	MKNK2_ENST00000309340.7_Missense_Mutation_p.G138R|MKNK2_ENST00000541165.1_Missense_Mutation_p.G7R|MKNK2_ENST00000591601.1_Missense_Mutation_p.G138R	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	138	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		TACCTGTGTCCCTGGCACTGG	0.577000													16	23					0	0	0.004990	0	0
FRS2	10818	broad.mit.edu	37	12	69965066	69965066	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:69965066C>T	ENST00000299293.2	+	8	774	c.264C>T	c.(262-264)gcC>gcT	p.A88A	FRS2_ENST00000397997.2_Silent_p.A88A|FRS2_ENST00000550389.1_Silent_p.A88A|FRS2_ENST00000549921.1_Silent_p.A88A	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	88	IRS-type PTB.				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAATCTTTGCCTTTAAGTGTG	0.308000											OREG0021986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	36					0	0	0.001855	0	0
LMOD3	56203	broad.mit.edu	37	3	69169130	69169130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:69169130C>T	ENST00000420581.2	-	2	555	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	LMOD3_ENST00000475434.1_Missense_Mutation_p.E126K|LMOD3_ENST00000489031.1_Missense_Mutation_p.E126K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	126	Glu-rich.					cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GCAACTATTTCATTATTGAGC	0.338000													7	18					0	0	0.001984	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178488	140178488	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:140178488C>A	ENST00000458420.3	+	7	1289	c.1099C>A	c.(1099-1101)Ccc>Acc	p.P367T	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	367					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						TGCCAAAGTCCCCGATGGGAT	0.572000										HNSCC(16;0.037)			18	33					1.33834e-09	2.79041e-09	0.000958	1	0
AMPD1	270	broad.mit.edu	37	1	115219982	115219982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:115219982G>A	ENST00000369538.3	-	9	1512	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S	AMPD1_ENST00000353928.6_Missense_Mutation_p.P460S|AMPD1_ENST00000520113.2_Missense_Mutation_p.P493S	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	460					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TAGATCCTGGGAACCTGGATC	0.522000													29	47					0	0	0.002096	0	0
PLCE1	51196	broad.mit.edu	37	10	96058180	96058180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:96058180C>T	ENST00000260766.3	+	24	5846	c.5212C>T	c.(5212-5214)Cct>Tct	p.P1738S	PLCE1_ENST00000371380.2_Missense_Mutation_p.P1738S|PLCE1_ENST00000371385.3_Missense_Mutation_p.P1430S|PLCE1_ENST00000371375.1_Missense_Mutation_p.P1430S	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1738	PI-PLC Y-box.|Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCTTCTTCCCCTCTCAACCC	0.453000													20	57					0	0	0.001523	0	0
CCNL2	81669	broad.mit.edu	37	1	1322837	1322837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:1322837G>A	ENST00000400809.3	-	11	1342	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	CCNL2_ENST00000408952.5_Missense_Mutation_p.S224F|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	446					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)		GGACTTCCGGGAGCCCCGAAT	0.642000													10	15					0	0	0.000673	0	0
TLR4	7099	broad.mit.edu	37	9	120476461	120476461	+	Silent	SNP	G	G	A	rs141222130		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:120476461G>A	ENST00000355622.6	+	3	2156	c.2055G>A	c.(2053-2055)gaG>gaA	p.E685E	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.E645E	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	685	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GCCAGGATGAGGACTGGGTAA	0.433000													14	9					0	0	0.002450	0	0
SFMBT2	57713	broad.mit.edu	37	10	7290601	7290601	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:7290601T>G	ENST00000361972.4	-	8	971	c.881A>C	c.(880-882)gAt>gCt	p.D294A	SFMBT2_ENST00000397167.1_Missense_Mutation_p.D294A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	294					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCTTCGCAAATCTGCGTGATC	0.473000													5	28					0	0	0.000602	0	0
GNAZ	2781	broad.mit.edu	37	22	23438263	23438263	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:23438263C>T	ENST00000248996.4	+	2	1047	c.381C>T	c.(379-381)gtC>gtT	p.V127V	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	127						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)		TGCTGGGTGTCATGCGACGGC	0.667000													26	43					0	0	0.004656	0	0
LSR	51599	broad.mit.edu	37	19	35757850	35757850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:35757850C>T	ENST00000602122.1	+	7	1695	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	LSR_ENST00000360798.3_Missense_Mutation_p.P355L|LSR_ENST00000354900.3_Missense_Mutation_p.P404L|LSR_ENST00000347609.4_Missense_Mutation_p.P365L|LSR_ENST00000361790.3_Missense_Mutation_p.P423L|LSR_ENST00000427250.1_Missense_Mutation_p.P267L			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	423					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGGCCCCCCCAGTGGCCGT	0.622000													10	25					0	0	0.000978	0	0
KMT2B	9757	broad.mit.edu	37	19	36217254	36217254	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:36217254G>A	ENST00000420124.1	+	14	4003	c.4003_splice	c.e14+1	p.G1335_splice	WBP7_ENST00000222270.7_Splice_Site_p.G1335_splice|KMT2B_ENST00000607650.1_RNA																							ATATGAGAAAGGTGGGGACCG	0.582000													14	29					0	0	0.004007	0	0
SPATC1	375686	broad.mit.edu	37	8	145095479	145095479	+	Silent	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:145095479C>A	ENST00000377470.3	+	3	879	c.777C>A	c.(775-777)tcC>tcA	p.S259S	SPATC1_ENST00000447830.2_Silent_p.S259S	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	259										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCACTCTCCACTGAGCCCC	0.622000													15	46					1.00905e-13	2.11502e-13	0.001216	1	0
NOS3	4846	broad.mit.edu	37	7	150698458	150698458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:150698458C>T	ENST00000297494.3	+	11	1730	c.1373C>T	c.(1372-1374)cCt>cTt	p.P458L	NOS3_ENST00000461406.1_Missense_Mutation_p.P252L|NOS3_ENST00000467517.1_Missense_Mutation_p.P458L|NOS3_ENST00000484524.1_Missense_Mutation_p.P458L	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	458	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGCCTCACTCCTGTTTTCCAT	0.612000													20	49					0	0	0.001523	0	0
STARD8	9754	broad.mit.edu	37	X	67937433	67937433	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:67937433A>T	ENST00000252336.6	+	5	809	c.437A>T	c.(436-438)cAa>cTa	p.Q146L	STARD8_ENST00000374599.3_Missense_Mutation_p.Q226L|STARD8_ENST00000374597.3_Missense_Mutation_p.Q146L	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	146					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGCAGCCAGCAAGCAGAGCCC	0.557000													20	8					0	0	0.000958	0	0
ANO4	121601	broad.mit.edu	37	12	101430917	101430917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:101430917C>T	ENST00000392979.3	+	9	1142	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.P296S	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	296						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						AGCTGCGTTTCCCCTGCATGA	0.348000										HNSCC(74;0.22)			35	96					0	0	0.001951	0	0
TRIM36	55521	broad.mit.edu	37	5	114513559	114513559	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:114513559A>G	ENST00000379617.2	-	2	582	c.74T>C	c.(73-75)aTg>aCg	p.M25T	TRIM36_ENST00000282369.3_Intron|TRIM36_ENST00000379618.2_Intron|TRIM36_ENST00000514154.1_Intron	NM_001017398.1	NP_001017398.1	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	25						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTGCAGGCCCATTGCTGAAGC	0.473000													4	58					0	0	0.000248	0	0
RET	5979	broad.mit.edu	37	10	43623695	43623695	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:43623695T>A	ENST00000355710.3	+	20	3555	c.3323T>A	c.(3322-3324)tTa>tAa	p.L1108*		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1108					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)	GCGGCAAAATTAATGGACACG	0.428000		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				6	61					0	0	0.001168	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181949	81181949	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:81181949G>A	ENST00000533478.1	-	0	2822				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTGCCAGGTGAATTCAATTT	0.572000													17	50					0	0	0.000958	0	0
NBEAL1	65065	broad.mit.edu	37	2	204045169	204045169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:204045169C>T	ENST00000449802.1	+	42	6775	c.6442C>T	c.(6442-6444)Cca>Tca	p.P2148S		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2148	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TATGGATAATCCATATGATGT	0.333000													170	290					0	0	0.003610	0	0
OR10H1	26539	broad.mit.edu	37	19	15918298	15918298	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:15918298G>A	ENST00000334920.2	-	1	638	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AACTTCAACAGAGGTGGCACA	0.572000													12	59					0	0	0.000978	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762118	92762118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:92762118G>A	ENST00000318238.4	-	5	4383	c.3167C>T	c.(3166-3168)tCc>tTc	p.S1056F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1056F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1056F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1056										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTAATGGGGAAAACAGAGT	0.393000													33	21					0	0	0.004878	0	0
SMC1B	27127	broad.mit.edu	37	22	45757743	45757743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:45757743C>T	ENST00000357450.4	-	17	2683	c.2684G>A	c.(2683-2685)cGg>cAg	p.R895Q	SMC1B_ENST00000404354.3_Missense_Mutation_p.R895Q	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	895					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)		AAACTTCTTCCGTTCCTCTTC	0.398000													6	131					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179397187	179397187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179397187C>T	ENST00000589042.1	-	358	104379	c.104155G>A	c.(104155-104157)Gtg>Atg	p.V34719M	TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V33078M|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V25654M|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V25779M|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V32151M|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V25846M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33078							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)			GTTTCCTCCACCTTGACATGA	0.473000													11	61					0	0	0.000978	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627581	43627581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:43627581G>A	ENST00000332857.6	-	4	1134	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		AGCATCCAATGATTTAGCCAA	0.443000													10	343					0	0	0.000978	0	0
NRSN1	140767	broad.mit.edu	37	6	24146112	24146112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:24146112G>A	ENST00000378491.4	+	4	827	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	176					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AGGGCCAGGGGAAACAAAGAT	0.473000													18	46					0	0	0.001216	0	0
COL6A1	1291	broad.mit.edu	37	21	47423519	47423519	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:47423519C>T	ENST00000361866.3	+	35	2793	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	893	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CGCTGCAGTTCCTGCAGAACT	0.672000													10	19					0	0	0.000673	0	0
FREM1	158326	broad.mit.edu	37	9	14770703	14770703	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:14770703G>A	ENST00000380881.4	-	27	5777	c.4962C>T	c.(4960-4962)tcC>tcT	p.S1654S	FREM1_ENST00000380894.1_Silent_p.S189S|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Silent_p.S1653S|FREM1_ENST00000380880.3_Silent_p.S1653S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1653					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)		TCAACACGCGGGAAGTGATGT	0.468000													12	6					0	0	0.002450	0	0
VPS33A	65082	broad.mit.edu	37	12	122723159	122723159	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:122723159T>A	ENST00000267199.4	-	10	1389	c.1277A>T	c.(1276-1278)gAt>gTt	p.D426V	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.D387V	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	426					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TTTGTAATAATCCAAAACTTT	0.383000													46	98					0	0	0.003610	0	0
ZNF318	24149	broad.mit.edu	37	6	43324955	43324955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:43324955G>A	ENST00000361428.2	-	3	1174	c.1097C>T	c.(1096-1098)tCt>tTt	p.S366F	ZNF318_ENST00000318149.3_Missense_Mutation_p.S366F	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	366					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)			CCGATGCAAAGAATATCCTGG	0.512000													13	53					0	0	0.001368	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029204	68029204	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:68029204C>T	ENST00000329153.5	+	7	988	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	286						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)		GGGTGAGGGTCTGGTTACTGC	0.582000													12	20					0	0	0.001855	0	0
IYD	389434	broad.mit.edu	37	6	150690288	150690288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:150690288C>T	ENST00000344419.3	+	1	261	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	IYD_ENST00000392255.3_Missense_Mutation_p.R41C|IYD_ENST00000500320.3_Missense_Mutation_p.R41C|IYD_ENST00000229447.5_Missense_Mutation_p.R41C|IYD_ENST00000392256.2_Missense_Mutation_p.R41C	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	41					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GGCCGAAGCTCGCCCCTGGGT	0.498000													36	65					0	0	0.003755	0	0
GMDS	2762	broad.mit.edu	37	6	1742793	1742793	+	Missense_Mutation	SNP	C	C	T	rs146652291	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:1742793C>T	ENST00000380815.4	-	8	1068	c.799G>A	c.(799-801)Gag>Aag	p.E267K	GMDS_ENST00000530927.1_Missense_Mutation_p.E237K	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	267					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCCTCCGGCTCATCATTCTGC	0.443000													9	59					0	0	0.000978	0	0
SERPINB2	5055	broad.mit.edu	37	18	61565055	61565055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:61565055C>T	ENST00000457692.1	+	6	845	c.512C>T	c.(511-513)tCc>tTc	p.S171F	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Missense_Mutation_p.S171F	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	171					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.S171F(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AAGATTAATTCCTGGGTCAAG	0.343000													19	7					0	0	0.001882	0	0
TNFSF11	8600	broad.mit.edu	37	13	43180898	43180898	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:43180898G>A	ENST00000398795.2	+	5	947	c.579G>A	c.(577-579)ggG>ggA	p.G193G	TNFSF11_ENST00000405262.2_Silent_p.G193G|TNFSF11_ENST00000544862.1_Silent_p.G193G|TNFSF11_ENST00000358545.2_Silent_p.G193G|TNFSF11_ENST00000239849.6_Silent_p.G266G	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	266					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	p.G266G(1)		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)		ATTGGTCAGGGAATTCTGAAT	0.423000													8	72					0	0	0.003080	0	0
CHD5	26038	broad.mit.edu	37	1	6202331	6202331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:6202331C>T	ENST00000262450.3	-	15	2392	c.2293G>A	c.(2293-2295)Gaa>Aaa	p.E765K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	765	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AACTCGCGTTCCCAGTTGATG	0.612000													21	21					0	0	0.002780	0	0
CYP2C18	1562	broad.mit.edu	37	10	96466568	96466568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:96466568G>A	ENST00000285979.6	+	5	869	c.670G>A	c.(670-672)Gat>Aat	p.D224N	CYP2C18_ENST00000339022.5_Intron|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)		TGCTCTCATCGATTATCTCCC	0.303000													4	20					0	0	0.000602	0	0
LTN1	26046	broad.mit.edu	37	21	30329142	30329142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:30329142C>T	ENST00000361371.4	-	16	3171	c.3021G>A	c.(3019-3021)atG>atA	p.M1007I	LTN1_ENST00000389194.2_Missense_Mutation_p.M1053I	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1007							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CAATTAAGACCATTTTGCTCA	0.303000													5	20					0	0	0.001984	0	0
KDR	3791	broad.mit.edu	37	4	55955863	55955863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:55955863G>A	ENST00000263923.4	-	24	3594	c.3299C>T	c.(3298-3300)tCc>tTc	p.S1100F	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)	1100	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)	CTTACCTAAGGAAAATATTTC	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			40	93					0	0	0.002852	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724994	140724994	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140724994A>G	ENST00000253812.6	+	1	1394	c.1394A>G	c.(1393-1395)aAc>aGc	p.N465S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGAAAACAACCCCAGAGGA	0.522000													47	88					0	0	0.003610	0	0
MDN1	23195	broad.mit.edu	37	6	90402561	90402561	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:90402561G>A	ENST00000369393.3	-	63	10303	c.10188C>T	c.(10186-10188)gcC>gcT	p.A3396A	MDN1_ENST00000428876.1_Silent_p.A3396A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3396					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.A3396A(1)		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)		GTGGGCTCACGGCATCTGGAT	0.562000													13	51					0	0	0.002450	0	0
RYR1	6261	broad.mit.edu	37	19	38934823	38934823	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:38934823C>T	ENST00000355481.4	+	6	590	c.459C>T	c.(457-459)tcC>tcT	p.S153S	RYR1_ENST00000359596.3_Silent_p.S153S|RYR1_ENST00000360985.3_Silent_p.S153S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	153					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCCAGCCTCCAAGCAGAGGT	0.587000													11	33					0	0	0.001855	0	0
ZNF676	163223	broad.mit.edu	37	19	22362851	22362851	+	Silent	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:22362851A>T	ENST00000397121.2	-	3	1985	c.1668T>A	c.(1666-1668)acT>acA	p.T556T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTTCTCTCCAGTATGAATTC	0.373000													8	34					0	0	0.000443	0	0
CPAMD8	27151	broad.mit.edu	37	19	17057916	17057916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:17057916G>A	ENST00000443236.1	-	21	2802	c.2771C>T	c.(2770-2772)tCc>tTc	p.S924F		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	877						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTCGCTGAAGGACAGAACGAC	0.602000													25	91					0	0	0.003954	0	0
ZNF43	7594	broad.mit.edu	37	19	22002001	22002001	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:22002001A>G	ENST00000594012.1	-	5	522	c.8T>C	c.(7-9)gTg>gCg	p.V3A	ZNF43_ENST00000598288.1_Missense_Mutation_p.V3A|ZNF43_ENST00000598381.1_Missense_Mutation_p.V3A|ZNF43_ENST00000354959.4_Missense_Mutation_p.V9A|ZNF43_ENST00000595461.1_Missense_Mutation_p.V3A	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTCTATGGCCACATCCATAAA	0.398000													23	57					0	0	0.002299	0	0
CEP250	11190	broad.mit.edu	37	20	34067172	34067172	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:34067172G>A	ENST00000397527.1	+	18	2931	c.2211G>A	c.(2209-2211)gaG>gaA	p.E737E	RP3-477O4.14_ENST00000444933.1_RNA|CEP250_ENST00000342580.4_Silent_p.E737E|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	737	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TAGTACGAGAGAAAGCGGCTC	0.617000													50	94					0	0	0.003610	0	0
GLI3	2737	broad.mit.edu	37	7	42005140	42005140	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:42005140G>A	ENST00000395925.3	-	15	3615	c.3531C>T	c.(3529-3531)ctC>ctT	p.L1177L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1177					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCCACACTTGAGCTTGGAGG	0.667000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				58	98					0	0	0.003610	0	0
VIPR2	7434	broad.mit.edu	37	7	158896490	158896490	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:158896490G>A	ENST00000262178.2	-	4	500	c.315C>T	c.(313-315)ttC>ttT	p.F105F	VIPR2_ENST00000402066.1_Silent_p.F246F	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	105					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AGGCATCGACGAAATCTGGGA	0.498000													25	48					0	0	0.005443	0	0
CACNA1B	774	broad.mit.edu	37	9	140967990	140967990	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:140967990G>A	ENST00000277549.5	+	33	4876	c.2307G>A	c.(2305-2307)ctG>ctA	p.L769L	CACNA1B_ENST00000277551.2_Silent_p.L1575L|CACNA1B_ENST00000371372.1_Silent_p.L1575L|CACNA1B_ENST00000371355.4_Silent_p.L1576L|CACNA1B_ENST00000371357.1_Silent_p.L1574L|CACNA1B_ENST00000371363.1_Silent_p.L1573L			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1575					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)	CTGCGCGGCTGATCAAGCTGC	0.577000													7	75					0	0	0.000443	0	0
CAGE1	285782	broad.mit.edu	37	6	7374301	7374301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:7374301C>T	ENST00000502583.1	-	5	1315	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	CAGE1_ENST00000512086.1_Missense_Mutation_p.E251K|CAGE1_ENST00000338150.4_Missense_Mutation_p.E251K|CAGE1_ENST00000379918.4_Missense_Mutation_p.E251K|CAGE1_ENST00000296742.7_Missense_Mutation_p.E115K|CAGE1_ENST00000509324.1_5'UTR	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	251										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ACTTCCTTTTCATAACTGACT	0.438000													38	157					0	0	0.001706	0	0
ODF3L2	284451	broad.mit.edu	37	19	467742	467742	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:467742G>C	ENST00000315489.4	-	3	491	c.256C>G	c.(256-258)Ccg>Gcg	p.P86A	ODF3L2_ENST00000382696.3_Missense_Mutation_p.P50A	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	86										large_intestine(1)|lung(2)	3						ATGGGGCCCGGGCTGGTGTCC	0.647000													12	61					0	0	0.000978	0	0
SYTL4	94121	broad.mit.edu	37	X	99944877	99944877	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:99944877G>A	ENST00000372981.1	-	9	1074	c.888C>T	c.(886-888)tcC>tcT	p.S296S	SYTL4_ENST00000276141.6_Silent_p.S296S|SYTL4_ENST00000454200.2_Silent_p.S297S|SYTL4_ENST00000263033.5_Silent_p.S296S|SYTL4_ENST00000455616.1_Silent_p.S296S|SYTL4_ENST00000372989.1_Silent_p.S296S			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	296					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCCTGGGACGGATTTGCTTC	0.423000													20	12					0	0	0.002299	0	0
CD36	948	broad.mit.edu	37	7	80293749	80293749	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:80293749A>G	ENST00000435819.1	+	10	1321	c.637A>G	c.(637-639)Aaa>Gaa	p.K213E	CD36_ENST00000534394.1_Missense_Mutation_p.K137E|CD36_ENST00000309881.7_Missense_Mutation_p.K213E|CD36_ENST00000432207.1_Missense_Mutation_p.K213E|CD36_ENST00000447544.2_Missense_Mutation_p.K213E|CD36_ENST00000544133.1_Missense_Mutation_p.K213E|CD36_ENST00000433696.2_Missense_Mutation_p.K213E|CD36_ENST00000394788.3_Missense_Mutation_p.K213E|CD36_ENST00000538969.1_Missense_Mutation_p.K153E			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	213					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						TGGAGTTTATAAAGTTTTCAA	0.289000													53	113					0	0	0.003610	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208795654	208795654	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:208795654G>T	ENST00000457206.1	-	5	2309	c.1882C>A	c.(1882-1884)Cgc>Agc	p.R628S	PLEKHM3_ENST00000427836.2_Missense_Mutation_p.R628S|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.R628S			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	628					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTACCTGCGGCGGAGATCC	0.622000													40	30					6.68952e-21	1.40715e-20	0.003214	1	0
CELF1	10658	broad.mit.edu	37	11	47497004	47497004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:47497004G>A	ENST00000395290.2	-	10	1079	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000531165.1_Missense_Mutation_p.A386V|CELF1_ENST00000532048.1_Missense_Mutation_p.A384V|CELF1_ENST00000395292.2_Missense_Mutation_p.A355V|CELF1_ENST00000310513.5_Missense_Mutation_p.A354V|CELF1_ENST00000361904.3_Missense_Mutation_p.A355V|CELF1_ENST00000358597.3_Missense_Mutation_p.A358V	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	358					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CTGAGTGAGGGCCTCCATGGT	0.537000													17	72					0	0	0.001216	0	0
MAEA	10296	broad.mit.edu	37	4	1305797	1305797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:1305797C>T	ENST00000303400.4	+	2	163	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	MAEA_ENST00000505177.2_Missense_Mutation_p.R34C|MAEA_ENST00000264750.6_Missense_Mutation_p.R34C|MAEA_ENST00000505839.1_5'UTR|MAEA_ENST00000452175.2_Missense_Mutation_p.R23C|MAEA_ENST00000514708.1_Missense_Mutation_p.R34C|MAEA_ENST00000510794.1_Missense_Mutation_p.R33C	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	34	Extracellular and involved in cell to cell contact.		R -> C (in dbSNP:rs34082974).		cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CAAACGCTTTCGCGCCGCTCA	0.642000													23	46					0	0	0.001061	0	0
FAT2	2196	broad.mit.edu	37	5	150946298	150946298	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:150946298G>T	ENST00000261800.5	-	1	2207	c.2195C>A	c.(2194-2196)aCc>aAc	p.T732N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	732	Cadherin 6.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCAAGGGGGTGTTGATAGG	0.478000													17	113					1.56452e-12	3.27209e-12	0.000958	1	0
OR4C15	81309	broad.mit.edu	37	11	55321881	55321881	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:55321881C>T	ENST00000314644.2	+	1	99	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					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						AGCAAATTTTCCTTTGTCCTA	0.368000										HNSCC(20;0.049)			14	34					0	0	0.002450	0	0
IGSF10	285313	broad.mit.edu	37	3	151164367	151164367	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:151164367G>A	ENST00000282466.3	-	4	3401	c.3402C>T	c.(3400-3402)tcC>tcT	p.S1134S		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	1134					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)			GAGTCACTTGGGAAATTTCAG	0.413000													60	123					0	0	0.003610	0	0
GTPBP4	23560	broad.mit.edu	37	10	1042121	1042121	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:1042121C>T	ENST00000360803.4	+	4	481	c.399C>T	c.(397-399)gcC>gcT	p.A133A	GTPBP4_ENST00000545048.1_Silent_p.A86A|GTPBP4_ENST00000538293.1_Silent_p.A17A|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	133					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AGCGTGCGGCCCTGGGACGGA	0.478000													4	18					0	0	0.000248	0	0
PNPLA8	50640	broad.mit.edu	37	7	108154646	108154646	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:108154646A>T	ENST00000426128.2	-	3	1273	c.1148T>A	c.(1147-1149)gTt>gAt	p.V383D	PNPLA8_ENST00000257694.8_Missense_Mutation_p.V383D|PNPLA8_ENST00000436062.1_Missense_Mutation_p.V383D|PNPLA8_ENST00000453144.1_Missense_Mutation_p.V283D|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000388728.5_Missense_Mutation_p.V383D|PNPLA8_ENST00000422087.1_Missense_Mutation_p.V383D	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	383					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CAGTTCTTCAACCCTAGTAAT	0.378000													138	233					0	0	0.003610	0	0
OR52E6	390078	broad.mit.edu	37	11	5862870	5862870	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5862870G>A	ENST00000329322.5	-	1	257	c.258C>T	c.(256-258)atC>atT	p.I86I	OR52E6_ENST00000379946.2_Silent_p.I90I|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAACCAGAAGATGCCCAGCA	0.473000													21	21					0	0	0.001523	0	0
DLX1	1745	broad.mit.edu	37	2	172952900	172952900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:172952900G>A	ENST00000361725.4	+	3	1135	c.683G>A	c.(682-684)gGa>gAa	p.G228E	DLX1_ENST00000341900.6_3'UTR|DLX1_ENST00000550686.1_3'UTR	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGCTCAGGAGGAAACGCGGGC	0.627000													27	58					0	0	0.004656	0	0
DNAH5	1767	broad.mit.edu	37	5	13788874	13788874	+	Silent	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13788874T>C	ENST00000265104.4	-	51	8702	c.8598A>G	c.(8596-8598)ggA>ggG	p.G2866G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2866					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)					ATGTGTCAATTCCACAATCCA	0.413000									Kartagener syndrome				12	52					0	0	0.002450	0	0
EGF	1950	broad.mit.edu	37	4	110866389	110866389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:110866389C>T	ENST00000265171.5	+	5	1343	c.898C>T	c.(898-900)Cca>Tca	p.P300S	EGF_ENST00000509793.1_Missense_Mutation_p.P300S|EGF_ENST00000503392.1_Missense_Mutation_p.P300S	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	300					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGTAGTGCATCCACTTGCACA	0.478000													17	11					0	0	0.006122	0	0
SVEP1	79987	broad.mit.edu	37	9	113194310	113194310	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:113194310G>A	ENST00000401783.2	-	32	5574	c.5238C>T	c.(5236-5238)gtC>gtT	p.V1746V	SVEP1_ENST00000374469.1_Silent_p.V1723V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1746	EGF-like 7; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CACACTCATCGACATCTAAAA	0.363000													26	23					0	0	0.004656	0	0
MSTN	2660	broad.mit.edu	37	2	190922147	190922147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:190922147G>A	ENST00000260950.4	-	3	1097	c.965C>T	c.(964-966)cCt>cTt	p.P322L	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	322					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.P322L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATGAGTATGAGGATATTTTTG	0.393000													9	8					0	0	0.000673	0	0
MPP6	51678	broad.mit.edu	37	7	24703293	24703293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:24703293G>A	ENST00000396475.2	+	7	1035	c.736G>A	c.(736-738)Gga>Aga	p.G246R	MPP6_ENST00000409761.1_Missense_Mutation_p.G134R|MPP6_ENST00000222644.4_Missense_Mutation_p.G246R	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	246	SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GTTTTCCAAAGGAGAGATTCT	0.343000													23	65					0	0	0.004656	0	0
VRTN	55237	broad.mit.edu	37	14	74824770	74824770	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:74824770C>T	ENST00000256362.4	+	2	1525	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	428					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AACGCAGGTTCCCTGGCATCT	0.572000													32	40					0	0	0.003271	0	0
FBXO42	54455	broad.mit.edu	37	1	16632330	16632330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:16632330G>A	ENST00000375592.3	-	3	551	c.335C>T	c.(334-336)cCt>cTt	p.P112L	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	112										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGGGGTTCCAGGATAAGGATA	0.473000													5	71					0	0	0.001168	0	0
FRMPD2	143162	broad.mit.edu	37	10	49395278	49395278	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:49395278G>A	ENST00000374201.3	-	17	2525	c.2223C>T	c.(2221-2223)acC>acT	p.T741T	FRMPD2_ENST00000305531.3_Silent_p.T716T|FRMPD2_ENST00000407470.4_Silent_p.T709T	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	741					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)		GAGAGTCCCAGGTCATTGGCT	0.592000													9	18					0	0	0.004482	0	0
PRTG	283659	broad.mit.edu	37	15	55931908	55931908	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:55931908G>A	ENST00000389286.4	-	13	2303	c.2256C>T	c.(2254-2256)atC>atT	p.I752I		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	752	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGTAGTTAATGATTTGTGCAG	0.483000													38	80					0	0	0.001485	0	0
LRRC18	474354	broad.mit.edu	37	10	50122129	50122129	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:50122129G>A	ENST00000374160.3	-	1	148	c.72C>T	c.(70-72)atC>atT	p.I24I	LRRC18_ENST00000298124.3_Silent_p.I24I|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	24						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CATCAAAAGTGATTTTGATGC	0.468000													10	28					0	0	0.000673	0	0
MOS	4342	broad.mit.edu	37	8	57026421	57026421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:57026421G>A	ENST00000311923.1	-	1	120	c.121C>T	c.(121-123)Cct>Tct	p.P41S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	41							ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GGGGCCCGAGGAAGAGTGGCC	0.687000													8	9					0	0	0.003080	0	0
PARP9	83666	broad.mit.edu	37	3	122247434	122247434	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:122247434G>T	ENST00000360356.2	-	11	2569	c.2342C>A	c.(2341-2343)cCc>cAc	p.P781H	PARP9_ENST00000477522.2_Missense_Mutation_p.P746H|PARP9_ENST00000492382.1_Missense_Mutation_p.P326H|PARP9_ENST00000471785.1_Missense_Mutation_p.P746H	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	781	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CAGTGGTGGGGGAACAATATT	0.458000													30	67					2.09667e-21	4.41232e-21	0.003755	1	0
ESPNP	284729	broad.mit.edu	37	1	17029371	17029371	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:17029371G>A	ENST00000492551.1	-	0	994					NR_026567.1																						gggtggtgggggtatgggCTT	0.657000													6	2					0	0	0.001168	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948551	82948551	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:82948551G>A	ENST00000274341.4	-	3	1043	c.193C>T	c.(193-195)Cga>Tga	p.R65*	HAPLN1_ENST00000514416.1_Nonsense_Mutation_p.R65*	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	65	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GTAGGGTCTCGATAAAATTTA	0.423000													24	27					0	0	0.002780	0	0
DMBX1	127343	broad.mit.edu	37	1	46977781	46977781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:46977781C>T	ENST00000371956.4	+	4	779	c.764C>T	c.(763-765)tCc>tTc	p.S255F	DMBX1_ENST00000360032.3_Missense_Mutation_p.S250F	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	255					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)					CCCTCCCACTCCTATTCCTCG	0.617000													32	101					0	0	0.004878	0	0
MROH5	389690	broad.mit.edu	37	8	142482967	142482967	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:142482967G>A	ENST00000430863.1	-	0	1932					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TAGCCATTGTGGTTCAGGAAT	0.662000													6	15					0	0	0.001984	0	0
MAPK9	5601	broad.mit.edu	37	5	179676046	179676046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:179676046C>T	ENST00000452135.2	-	6	841	c.543G>A	c.(541-543)atG>atA	p.M181I	MAPK9_ENST00000347470.4_Missense_Mutation_p.M181I|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000539014.1_Missense_Mutation_p.M181I|MAPK9_ENST00000425491.2_Missense_Mutation_p.M181I|MAPK9_ENST00000393360.3_Missense_Mutation_p.M181I|MAPK9_ENST00000455781.1_Missense_Mutation_p.M181I|MAPK9_ENST00000343111.6_Missense_Mutation_p.M181I|MAPK9_ENST00000397072.3_3'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	181	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor 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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGGGTCATCATGAAGTTAG	0.537000													64	95					0	0	0.003610	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427205	38427205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:38427205G>A	ENST00000322350.5	+	14	2251	c.1905G>A	c.(1903-1905)atG>atA	p.M635I	EGFLAM_ENST00000397202.2_Start_Codon_SNP_p.M1I|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000336740.6_Missense_Mutation_p.M401I|EGFLAM_ENST00000354891.3_Missense_Mutation_p.M635I	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	635	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTTCCTTCATGGAATTTGAGA	0.507000													22	90					0	0	0.002299	0	0
TMEFF2	23671	broad.mit.edu	37	2	192821082	192821082	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:192821082T>A	ENST00000392314.1	-	8	1159	c.768A>T	c.(766-768)gaA>gaT	p.E256D	TMEFF2_ENST00000272771.5_Missense_Mutation_p.E256D|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	256						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CTCTGGCACTTTCTTCTAATT	0.413000													10	35					0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179579103	179579103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179579103C>T	ENST00000589042.1	-	91	26622	c.26398G>A	c.(26398-26400)Gaa>Aaa	p.E8800K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8483K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E7556K|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8483	Ig-like 71.						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)			TTGGCTGGTTCCACTCTTGAA	0.408000													6	36					0	0	0.001168	0	0
CD93	22918	broad.mit.edu	37	20	23065195	23065195	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:23065195C>T	ENST00000246006.4	-	1	1782	c.1635G>A	c.(1633-1635)agG>agA	p.R545R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	545					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGCTGGGCTCCCTCCAGACGC	0.642000													28	50					0	0	0.001271	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603231	13603231	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:13603231T>G	ENST00000040738.5	-	10	5428	c.5293A>C	c.(5293-5295)Aat>Cat	p.N1765H		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1765							DNA binding										GGTGCATCATTATCTCCCAGG	0.522000													9	423					0	0	0.000443	0	0
ZNF19	7567	broad.mit.edu	37	16	71509172	71509172	+	Silent	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:71509172G>T	ENST00000288177.5	-	6	1533	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	ZNF19_ENST00000565637.1_Silent_p.S384S|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565100.2_Silent_p.S356S|ZNF19_ENST00000564230.1_Silent_p.S426S	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	426						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GACCTAGCTGGGAAGAAGTCC	0.448000													11	41					6.40141e-05	0.000132825	0.000978	1	0
PDS5B	23047	broad.mit.edu	37	13	33332294	33332294	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:33332294G>A	ENST00000315596.10	+	27	3312	c.3126G>A	c.(3124-3126)aaG>aaA	p.K1042K		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1042					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTATCAGAAAGATGGTAGAAA	0.264000													5	51					0	0	0.001168	0	0
SNHG14	104472715	broad.mit.edu	37	15	25326359	25326359	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:25326359G>A	ENST00000546682.1	+	0	59				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						AGGCTGTTGGGATCCTCCTGG	0.498000													6	16					0	0	0.001168	0	0
ITGA7	3679	broad.mit.edu	37	12	56087064	56087064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:56087064G>A	ENST00000257880.7	-	21	2924	c.2705C>T	c.(2704-2706)tCt>tTt	p.S902F	ITGA7_ENST00000452168.2_Missense_Mutation_p.S765F|ITGA7_ENST00000555728.1_Missense_Mutation_p.S902F|ITGA7_ENST00000347027.6_Missense_Mutation_p.S852F|ITGA7_ENST00000394230.2_Missense_Mutation_p.S862F|ITGA7_ENST00000257879.6_Missense_Mutation_p.S858F|ITGA7_ENST00000553804.1_Missense_Mutation_p.S862F|ITGA7_ENST00000394229.2_Missense_Mutation_p.S858F			Q13683	ITA7_HUMAN	integrin, alpha 7	902					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						GAGGAAGGCAGAGCCCAGGGT	0.507000													17	51					0	0	0.006122	0	0
OR51G2	81282	broad.mit.edu	37	11	4936874	4936874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4936874C>T	ENST00000322013.3	-	1	48	c.20G>A	c.(19-21)gGa>gAa	p.G7E	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGCTGTTTCCCAGGGATCC	0.547000													8	12					0	0	0.000443	0	0
PFKFB4	5210	broad.mit.edu	37	3	48573728	48573728	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:48573728C>T	ENST00000232375.3	-	8	913	c.801G>A	c.(799-801)cgG>cgA	p.R267R	PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Silent_p.R233R|PFKFB4_ENST00000536104.1_Silent_p.R256R|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Silent_p.R267R|PFKFB4_ENST00000383734.2_Silent_p.R267R	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	267	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CCCCGCCAATCCGGCCCTTGA	0.642000													30	60					0	0	0.002096	0	0
PAMR1	25891	broad.mit.edu	37	11	35492219	35492219	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:35492219G>A	ENST00000378880.2	-	5	1087	c.642C>T	c.(640-642)ctC>ctT	p.L214L	PAMR1_ENST00000532848.1_Silent_p.L174L|PAMR1_ENST00000278360.3_Silent_p.L214L|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Intron	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	214	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGAGGACGTGGAGTGAGGATC	0.512000													26	44					0	0	0.001271	0	0
SLC2A9	56606	broad.mit.edu	37	4	9892302	9892302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:9892302G>A	ENST00000506583.1	-	11	1277	c.1060C>T	c.(1060-1062)Ctc>Ttc	p.L354F	SLC2A9_ENST00000309065.3_Missense_Mutation_p.L354F|SLC2A9_ENST00000264784.3_Missense_Mutation_p.L383F			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	383					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						CCAATGAGGAGGGGTCTCCGT	0.527000													32	35					0	0	0.002836	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222664	8222664	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:8222664A>G	ENST00000361926.3	+	14	2331	c.2221A>G	c.(2221-2223)Acc>Gcc	p.T741A	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T741A	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	741					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGCCTTCCCAACCCCAGGCCC	0.577000													57	32					0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10408608	10408608	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:10408608G>A	ENST00000226207.5	-	21	2401	c.2307C>T	c.(2305-2307)ttC>ttT	p.F769F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	769	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						GACCAGCTTTGAAAAAGACCT	0.458000													19	29					0	0	0.001216	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655266	46655266	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:46655266A>T	ENST00000253255.5	-	1	3953	c.3954T>A	c.(3952-3954)aaT>aaA	p.N1318K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1318	PLAT.				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)		TGCTAAACAGATTTTCCACTT	0.458000													37	97					0	0	0.001287	0	0
OIT3	170392	broad.mit.edu	37	10	74692132	74692132	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:74692132G>A	ENST00000334011.5	+	9	1706	c.1488G>A	c.(1486-1488)cgG>cgA	p.R496R		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	496	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TGCACTGCCGGGTTCTTGTCT	0.532000													38	94					0	0	0.003610	0	0
NLRP13	126204	broad.mit.edu	37	19	56424543	56424543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:56424543C>T	ENST00000588751.1	-	5	664	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E214K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	214							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)		CGCTGCAGTTCCTCATGTTCG	0.512000													71	99					0	0	0.003610	0	0
DENND2C	163259	broad.mit.edu	37	1	115142866	115142866	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:115142866G>A	ENST00000393274.1	-	15	2689	c.2064C>T	c.(2062-2064)ctC>ctT	p.L688L	DENND2C_ENST00000393276.3_Silent_p.L631L|DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	688	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		GCTCCAAAAGGAGAGAGGCAC	0.403000													18	30					0	0	0.004990	0	0
DNAH5	1767	broad.mit.edu	37	5	13811768	13811768	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13811768C>T	ENST00000265104.4	-	44	7499	c.7395G>A	c.(7393-7395)ctG>ctA	p.L2465L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2465					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)					TCAGAGGAATCAGGCCTTGAA	0.403000									Kartagener syndrome				6	48					0	0	0.001984	0	0
T	6862	broad.mit.edu	37	6	166571865	166571865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:166571865C>T	ENST00000296946.2	-	9	1714	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	T_ENST00000366871.3_Missense_Mutation_p.D358N	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	416					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GCTGCGGCGTCGTACTGGCTG	0.637000									Chordoma, Familial Clustering of				56	96					0	0	0.003610	0	0
PC	5091	broad.mit.edu	37	11	66631276	66631276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:66631276G>A	ENST00000393960.1	-	12	1618	c.1337C>T	c.(1336-1338)gCc>gTc	p.A446V	PC_ENST00000355677.3_Missense_Mutation_p.A446V|PC_ENST00000393955.2_Missense_Mutation_p.A446V|PC_ENST00000393958.2_Missense_Mutation_p.A446V|PC_ENST00000524491.1_Missense_Mutation_p.A406V	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	446	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTCCGCAAGGGCCCTGCTCAT	0.657000													22	83					0	0	0.002780	0	0
CYP2C9	1559	broad.mit.edu	37	10	96741065	96741065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:96741065C>T	ENST00000260682.6	+	7	1099	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	363					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)	TGACCTTCTCCCCACCAGCCT	0.502000													3	8					0	0	0.004672	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999365	46999365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:46999365C>T	ENST00000374314.4	+	1	1440	c.485C>T	c.(484-486)tCt>tTt	p.S162F	GPRIN2_ENST00000374317.1_Missense_Mutation_p.S162F			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	162										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGTGGTACTTCTGGCCAGGGT	0.637000													8	22					0	0	0.003080	0	0
FNDC1	84624	broad.mit.edu	37	6	159682275	159682275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:159682275C>T	ENST00000297267.9	+	19	5428	c.5228C>T	c.(5227-5229)cCt>cTt	p.P1743L	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1680L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1743	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCTATCAGCCCTTCGGTCTCA	0.348000													46	71					0	0	0.003610	0	0
ACTR3B	57180	broad.mit.edu	37	7	152520574	152520574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:152520574G>A	ENST00000256001.8	+	8	966	c.832G>A	c.(832-834)Gga>Aga	p.G278R	ACTR3B_ENST00000377776.3_Missense_Mutation_p.G278R|ACTR3B_ENST00000537264.1_Missense_Mutation_p.G190R|ACTR3B_ENST00000397282.2_Missense_Mutation_p.G190R	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	278					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		AAGATTCCTGGGACCTGAAAT	0.463000													37	126					0	0	0.002522	0	0
ACO2	50	broad.mit.edu	37	22	41913586	41913586	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:41913586C>T	ENST00000396512.3	+	7	983	c.966C>T	c.(964-966)ttC>ttT	p.F322F	ACO2_ENST00000466237.1_3'UTR|ACO2_ENST00000216254.4_Silent_p.F297F			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	297					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						CTTCCGTGTTCCCTTACAACC	0.622000											OREG0026588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	21					0	0	0.002450	0	0
LRRC17	10234	broad.mit.edu	37	7	102584731	102584731	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:102584731G>C	ENST00000339431.4	+	4	1298	c.1003G>C	c.(1003-1005)Gta>Cta	p.V335L	FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000436908.1_Intron|LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_3'UTR	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	335					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGACTATGGCGTATTAGAAGA	0.368000													51	101					0	0	0.003610	0	0
NCAN	1463	broad.mit.edu	37	19	19338311	19338311	+	Missense_Mutation	SNP	C	C	T	rs138659174		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:19338311C>T	ENST00000252575.5	+	8	1925	c.1882C>T	c.(1882-1884)Cca>Tca	p.P628S	NCAN_ENST00000538881.1_Missense_Mutation_p.P79S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	628					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGCCACCTCCCCAGATCTCCC	0.632000													27	29					0	0	0.001271	0	0
ABCA12	26154	broad.mit.edu	37	2	215865485	215865485	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:215865485G>A	ENST00000272895.7	-	22	3342	c.3123C>T	c.(3121-3123)tcC>tcT	p.S1041S	ABCA12_ENST00000389661.4_Silent_p.S723S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1041					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)		CTATTTCCTGGGAGTTCCTTC	0.388000													5	74					0	0	0.000602	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916696	42916696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:42916696C>T	ENST00000316161.4	-	1	937	c.613G>A	c.(613-615)Gag>Aag	p.E205K	CYP8B1_ENST00000437102.1_Missense_Mutation_p.E205K|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	205					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TTGCGGAACTCCATGAATAAC	0.527000													24	50					0	0	0.003954	0	0
DYM	54808	broad.mit.edu	37	18	46784834	46784834	+	Silent	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:46784834T>C	ENST00000269445.6	-	12	1738	c.1281A>G	c.(1279-1281)gaA>gaG	p.E427E	DYM_ENST00000442713.2_Silent_p.E237E	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	427						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TTAAAACTCGTTCTGAATACC	0.358000													16	14					0	0	0.004990	0	0
PPP5C	5536	broad.mit.edu	37	19	46878977	46878977	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:46878977C>T	ENST00000012443.4	+	3	583	c.480C>T	c.(478-480)tcC>tcT	p.S160S	PPP5C_ENST00000391919.1_Silent_p.S54S	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	160					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		ACAAGCGCTCCGTGGTGGACT	0.587000													8	5					0	0	0.004482	0	0
MKX	283078	broad.mit.edu	37	10	28030293	28030293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:28030293G>A	ENST00000375790.5	-	3	761	c.329C>T	c.(328-330)tCg>tTg	p.S110L	MKX_ENST00000419761.1_Missense_Mutation_p.S110L			Q8IYA7	MKX_HUMAN	mohawk homeobox	110					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CGTCATCTGCGAGCCGAGGGC	0.582000													23	47					0	0	0.003954	0	0
EPHX3	79852	broad.mit.edu	37	19	15338587	15338587	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:15338587G>A	ENST00000221730.3	-	6	1072	c.852C>T	c.(850-852)ctC>ctT	p.L284L	EPHX3_ENST00000602233.1_Silent_p.L284L|EPHX3_ENST00000435261.1_Silent_p.L284L	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	284						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CTCACCTGAAGAGGTTTCGGT	0.577000													9	12					0	0	0.000443	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87125949	87125949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:87125949C>T	ENST00000285393.3	+	2	284	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	48					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	p.H48Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CCTGAAAATTCATCTCCAGAC	0.323000													35	106					0	0	0.005524	0	0
GNL2	29889	broad.mit.edu	37	1	38042068	38042068	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:38042068C>T	ENST00000373062.3	-	9	1097	c.999G>A	c.(997-999)aaG>aaA	p.K333K		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	333	G.				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TGCAAACTTTCTTAGAACGCA	0.418000													31	66					0	0	0.001786	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763570	62763570	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:62763570G>A	ENST00000336232.2	-	6	951	c.816C>T	c.(814-816)gcC>gcT	p.A272A	SLC22A8_ENST00000535878.1_Silent_p.A149A|SLC22A8_ENST00000545207.1_Silent_p.A181A|SLC22A8_ENST00000311438.8_Silent_p.A272A|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000430500.2_Silent_p.A272A	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	272					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GTATCTTCAGGGCCTTCGAGG	0.587000													35	37					0	0	0.004878	0	0
RP1L1	94137	broad.mit.edu	37	8	10466429	10466429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:10466429C>T	ENST00000382483.3	-	4	5402	c.5179G>A	c.(5179-5181)Gag>Aag	p.E1727K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1727					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGCCCTCCCTCAGCTCCCTGG	0.647000													21	73					0	0	0.001523	0	0
TNXB	7148	broad.mit.edu	37	6	32065145	32065145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:32065145C>T	ENST00000375244.3	-	3	686	c.485G>A	c.(484-486)tGg>tAg	p.W162*	TNXB_ENST00000479795.1_Nonsense_Mutation_p.W162*|TNXB_ENST00000375247.2_Nonsense_Mutation_p.W162*			P22105	TENX_HUMAN	tenascin XB	162	EGF-like 1; incomplete.				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						GGGCCCACCCCAGCCTGGCTC	0.617000													67	252					0	0	0.003610	0	0
POTEE	445582	broad.mit.edu	37	2	131984464	131984464	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:131984464G>A	ENST00000356920.5	+	4	973	c.879G>A	c.(877-879)aaG>aaA	p.K293K	POTEE_ENST00000358087.5_Silent_p.K303K|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	293							ATP binding										TTTTAATCAAGAAAAAAGCGA	0.343000													16	43					0	0	0.003954	0	0
ROR1	4919	broad.mit.edu	37	1	64605949	64605949	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:64605949G>A	ENST00000371079.1	+	6	1143	c.768G>A	c.(766-768)gaG>gaA	p.E256E	ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000482426.1_3'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Silent_p.E256E	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	256	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AAATCCTGGAGAATGTCCTGT	0.488000													27	79					0	0	0.001786	0	0
SLC38A1	81539	broad.mit.edu	37	12	46633496	46633496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:46633496C>T	ENST00000398637.5	-	3	782	c.88G>A	c.(88-90)Gat>Aat	p.D30N	SLC38A1_ENST00000549633.1_Intron|SLC38A1_ENST00000552197.1_Missense_Mutation_p.D30N|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D30N|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D30N|SLC38A1_ENST00000549049.1_Missense_Mutation_p.D30N	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	30					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TCGGTGAAATCATTGGAGTCA	0.383000													16	69					0	0	0.000958	0	0
CTAGE15	441294	broad.mit.edu	37	7	143270136	143270136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:143270136G>A	ENST00000420911.2	+	1	1243	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q		NM_001008747.1	NP_001008747.1			CTAGE family, member 15																		GAAAATTACCGAATAGAGGAA	0.378000													19	74					0	0	0.001523	0	0
IL37	27178	broad.mit.edu	37	2	113676334	113676334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:113676334C>T	ENST00000263326.3	+	5	647	c.605C>T	c.(604-606)tCa>tTa	p.S202L	IL37_ENST00000349806.3_Missense_Mutation_p.S141L|IL37_ENST00000352179.3_Missense_Mutation_p.S181L|IL37_ENST00000353225.3_Missense_Mutation_p.S162L|IL37_ENST00000311328.2_Missense_Mutation_p.S176L	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	202					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ATTGAATTTTCATTTCAACCA	0.458000													20	20					0	0	0.001882	0	0
SI	6476	broad.mit.edu	37	3	164754210	164754210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:164754210C>T	ENST00000264382.3	-	22	2544	c.2482G>A	c.(2482-2484)Gga>Aga	p.G828R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	828	Isomaltase.				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			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)	AAAAAGTCTCCTTTGGCTGTG	0.343000										HNSCC(35;0.089)			7	11					0	0	0.000443	0	0
KRT80	144501	broad.mit.edu	37	12	52566898	52566898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:52566898C>T	ENST00000313234.5	-	6	978	c.881G>A	c.(880-882)aGc>aAc	p.S294N	KRT80_ENST00000394815.2_Missense_Mutation_p.S294N	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	294	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCTGCGGCTGCTCTGGAGGCT	0.647000													8	14					0	0	0.004482	0	0
CRISP2	7180	broad.mit.edu	37	6	49676848	49676848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:49676848C>T	ENST00000339139.4	-	4	298	c.62G>A	c.(61-63)gGa>gAa	p.G21E		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	21						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CCTTACCTTTCCTTCTGCAGG	0.413000													7	34					0	0	0.003080	0	0
GYS1	2997	broad.mit.edu	37	19	49473946	49473946	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:49473946G>C	ENST00000323798.3	-	14	1862	c.1666C>G	c.(1666-1668)Cgg>Ggg	p.R556G	GYS1_ENST00000263276.6_Missense_Mutation_p.R492G|GYS1_ENST00000541188.1_Missense_Mutation_p.R476G|GYS1_ENST00000544287.1_Missense_Mutation_p.R189G	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	556					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CTGCGGAACCGCCGGTCAAGA	0.587000											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	30					0	0	0.001855	0	0
VPS13B	157680	broad.mit.edu	37	8	100865745	100865745	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:100865745C>T	ENST00000358544.2	+	56	10314	c.10203C>T	c.(10201-10203)gaC>gaT	p.D3401D	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.D3376D	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3401					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGTTTGATGACCTCACCCACC	0.507000													22	66					0	0	0.003954	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033001	82033001	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:82033001G>A	ENST00000328945.5	-	3	1024	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	299					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GACCCAAAATGAAGTGAACCA	0.483000													23	51					0	0	0.001882	0	0
MICAL2	9645	broad.mit.edu	37	11	12278353	12278353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	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													9	33					0	0	0.000443	0	0
NOS1	4842	broad.mit.edu	37	12	117725962	117725962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:117725962C>T	ENST00000344089.3	-	6	1785	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	NOS1_ENST00000317775.6_Silent_p.R348R|NOS1_ENST00000338101.4_Silent_p.R348R	NM_001204213.1|NM_001204214.1	NP_001191142.1|NP_001191143.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	0					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTCAGGCCTCCTTGCATGCT	0.448000													17	41					0	0	0.000958	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21549984	21549984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:21549984C>T	ENST00000298694.4	+	14	3084	c.2957C>T	c.(2956-2958)tCg>tTg	p.S986L	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.S986L			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	986					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CGCAGCCCCTCGCCCAGCCTC	0.711000													6	6					0	0	0.003080	0	0
OR2L13	284521	broad.mit.edu	37	1	248263568	248263568	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:248263568G>A	ENST00000366478.2	+	3	1228	c.891G>A	c.(889-891)ctG>ctA	p.L297L	OR2L13_ENST00000358120.2_Silent_p.L297L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AGGAAGTCCTGGGGGCTATGA	0.473000													25	16					0	0	0.001271	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442280	89442280	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:89442280G>A	ENST00000492167.1	-	0	176																											GGCCCTGCAGGAGAGGGTGGC	0.537000													11	67					0	0	0.001368	0	0
FNIP2	57600	broad.mit.edu	37	4	159791505	159791505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:159791505C>T	ENST00000264433.6	+	14	2908	c.2833C>T	c.(2833-2835)Cgc>Tgc	p.R945C	FNIP2_ENST00000379346.3_Missense_Mutation_p.R968C	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	945					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GAACTTTGGCCGCTCACTTCT	0.488000													31	25					0	0	0.005524	0	0
ACVRL1	94	broad.mit.edu	37	12	52309221	52309221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:52309221C>T	ENST00000550683.1	+	6	1128	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	ACVRL1_ENST00000388922.4_Missense_Mutation_p.R329C|ACVRL1_ENST00000419526.2_Missense_Mutation_p.R155C	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	329	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)	CATTGCCCACCGCGACTTCAA	0.657000													16	22					0	0	0.004007	0	0
GRM6	2916	broad.mit.edu	37	5	178413358	178413358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:178413358G>A	ENST00000231188.5	-	8	2075	c.1897C>T	c.(1897-1899)Ctc>Ttc	p.L633F	GRM6_ENST00000517717.1_Missense_Mutation_p.L633F|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	633					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)		GCGTAGATGAGGAAGATGCCG	0.662000													15	24					0	0	0.003163	0	0
GUCY2F	2986	broad.mit.edu	37	X	108673541	108673541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:108673541C>T	ENST00000218006.2	-	8	2077	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	596	Protein kinase.				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	p.E596K(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CATACCATTTCGAACACATCA	0.383000													136	63					0	0	0.003610	0	0
TSC22D1	8848	broad.mit.edu	37	13	45148310	45148310	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:45148310G>T	ENST00000458659.2	-	1	2391	c.1901C>A	c.(1900-1902)cCa>cAa	p.P634Q	TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	634	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGAAACCATTGGTTGCTGTTG	0.507000													13	119					1.05317e-09	2.19681e-09	0.002450	1	0
FER1L6	654463	broad.mit.edu	37	8	124968246	124968246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:124968246G>A	ENST00000522917.1	+	2	214	c.8G>A	c.(7-9)gGg>gAg	p.G3E	FER1L6_ENST00000399018.1_Missense_Mutation_p.G3E	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	3						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGGATGTTTGGGCTGAAGGTG	0.443000													9	22					0	0	0.000443	0	0
RNF213	57674	broad.mit.edu	37	17	78247135	78247135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:78247135C>T	ENST00000582970.1	+	3	336	c.193C>T	c.(193-195)Ccg>Tcg	p.P65S	RNF213_ENST00000319921.4_Missense_Mutation_p.P65S|RNF213_ENST00000508628.2_Missense_Mutation_p.P65S|RNF213_ENST00000456466.1_Missense_Mutation_p.P65S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	65										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGCTTGTTCCCGGGCTCAGA	0.602000													19	37					0	0	0.006122	0	0
SYT10	341359	broad.mit.edu	37	12	33532801	33532801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:33532801C>T	ENST00000228567.3	-	6	1762	c.1466G>A	c.(1465-1467)cGa>cAa	p.R489Q	SYT10_ENST00000535526.1_Missense_Mutation_p.R308Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	489						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R489Q(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TATTGGTTTTCGATGATAGGC	0.453000													18	49					0	0	0.001216	0	0
XIRP1	165904	broad.mit.edu	37	3	39227129	39227129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:39227129G>A	ENST00000340369.3	-	2	4036	c.3808C>T	c.(3808-3810)Cca>Tca	p.P1270S	XIRP1_ENST00000421646.1_5'UTR|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1270	Pro-rich.						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)		GCTCCAGCTGGAAAGTCAGGT	0.632000													36	45					0	0	0.003271	0	0
CNGA1	1259	broad.mit.edu	37	4	47944130	47944130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:47944130C>T	ENST00000402813.3	-	8	834	c.692G>A	c.(691-693)gGa>gAa	p.G231E	CNGA1_ENST00000420489.2_Missense_Mutation_p.G162E|CNGA1_ENST00000514170.1_Missense_Mutation_p.G162E|CNGA1_ENST00000544810.1_Missense_Mutation_p.G162E|CNGA1_ENST00000358519.4_Missense_Mutation_p.G162E			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	162					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						ATATGTGTTTCCCGAGGGATC	0.338000													21	61					0	0	0.002299	0	0
KCNB2	9312	broad.mit.edu	37	8	73850312	73850312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:73850312G>A	ENST00000523207.1	+	3	3310	c.2722G>A	c.(2722-2724)Gaa>Aaa	p.E908K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	908					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)			TCCCACACGTGAAACCAGCAT	0.373000													15	41					0	0	0.006122	0	0
ZNF578	147660	broad.mit.edu	37	19	53014574	53014574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:53014574C>T	ENST00000421239.2	+	6	1184	c.940C>T	c.(940-942)Cct>Tct	p.P314S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGTGAGAAACCTTACAAGTG	0.413000													38	53					0	0	0.001951	0	0
TSPAN8	7103	broad.mit.edu	37	12	71533496	71533496	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:71533496G>A	ENST00000393330.2	-	7	808	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	TSPAN8_ENST00000546561.1_Silent_p.L86L|TSPAN8_ENST00000247829.3_Silent_p.L86L			P19075	TSN8_HUMAN	tetraspanin 8	86					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTCACCAACAGAAGCATGCAG	0.468000													9	253					0	0	0.004482	0	0
SRCAP	10847	broad.mit.edu	37	16	30733927	30733927	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:30733927C>T	ENST00000262518.4	+	23	4135	c.3750C>T	c.(3748-3750)ctC>ctT	p.L1250L	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1250	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCACCATCTCATCAGCCAGC	0.632000													52	76					0	0	0.003610	0	0
GRIA2	2891	broad.mit.edu	37	4	158257615	158257615	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:158257615G>A	ENST00000296526.7	+	11	1885	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G	GRIA2_ENST00000507898.1_Silent_p.G473G|GRIA2_ENST00000393815.2_Silent_p.G473G|GRIA2_ENST00000449365.1_Silent_p.G473G|GRIA2_ENST00000264426.9_Silent_p.G520G	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	520					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)	TGAGCCTCGGGATATCTATCA	0.413000													5	7					0	0	0.001168	0	0
POU2F2	5452	broad.mit.edu	37	19	42596305	42596305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:42596305G>A	ENST00000389341.5	-	13	1334	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L	POU2F2_ENST00000560558.1_Missense_Mutation_p.P384L|POU2F2_ENST00000529952.1_Missense_Mutation_p.P439L|POU2F2_ENST00000560398.1_Missense_Mutation_p.P445L|POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000526816.2_Missense_Mutation_p.P439L|POU2F2_ENST00000342301.4_Missense_Mutation_p.P439L|POU2F2_ENST00000533720.1_Missense_Mutation_p.P423L	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	439	Gly-rich.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GGTGGCCGGGGGTGGGGGAGT	0.701000													11	13					0	0	0.001368	0	0
TBX10	347853	broad.mit.edu	37	11	67399824	67399824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:67399824G>A	ENST00000335385.3	-	7	920	c.833C>T	c.(832-834)cCc>cTc	p.P278L		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	278					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CAGCACACAGGGACTGAGGCT	0.622000													18	58					0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179422211	179422211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179422211C>T	ENST00000589042.1	-	329	88002	c.87778G>A	c.(87778-87780)Gaa>Aaa	p.E29260K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E27619K|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20195K|TTN_ENST00000359218.5_Missense_Mutation_p.E20320K|TTN_ENST00000342992.6_Missense_Mutation_p.E26692K|TTN_ENST00000342175.6_Missense_Mutation_p.E20387K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27619	Fibronectin type-III 113.						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)			GACACTGGTTCATGCCAGCCC	0.448000													18	44					0	0	0.000958	0	0
ASB15	142685	broad.mit.edu	37	7	123264718	123264718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:123264718G>A	ENST00000451558.1	+	10	1068	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	RP11-390E23.3_ENST00000451016.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.E183K|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.E183K|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.E183K|ASB15_ENST00000275699.3_Missense_Mutation_p.E183K|RP11-390E23.3_ENST00000429396.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	183					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGCAATGCATGAAGCAGCCAA	0.498000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	71					0	0	0.001882	0	0
IFT27	11020	broad.mit.edu	37	22	37159018	37159018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:37159018C>T	ENST00000340630.5	-	6	834	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	IFT27_ENST00000433985.2_Missense_Mutation_p.R131Q|IFT27_ENST00000453009.2_Missense_Mutation_p.R90Q	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27 homolog (Chlamydomonas)	131					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GTCCACTGCTCGTCTGCCGGC	0.552000													18	35					0	0	0.006122	0	0
USP24	23358	broad.mit.edu	37	1	55563389	55563389	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:55563389C>T	ENST00000294383.6	-	48	5596	c.5595_splice	c.e48-1	p.R1866_splice	USP24_ENST00000407756.1_Splice_Site_p.R1706_splice	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1866					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CACTGTTATTCTCTAAAGAAA	0.363000													5	8					0	0	0.000602	0	0
FOXP1	27086	broad.mit.edu	37	3	71247436	71247436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:71247436G>A	ENST00000318789.4	-	6	622	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	FOXP1_ENST00000493089.1_Missense_Mutation_p.R33W|FOXP1_ENST00000498215.1_Missense_Mutation_p.R33W|FOXP1_ENST00000318779.3_Missense_Mutation_p.R33W|FOXP1_ENST00000484350.1_Missense_Mutation_p.R33W|FOXP1_ENST00000468577.1_Missense_Mutation_p.R33W|FOXP1_ENST00000475937.1_Missense_Mutation_p.R33W	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	33					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CGCCCCTCCCGAAGACCGCCG	0.607000			T	PAX5	ALL								56	123					0	0	0.003610	0	0
TFAP2A	7020	broad.mit.edu	37	6	10419659	10419659	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:10419659C>A	ENST00000319516.4	-	1	212	c.25G>T	c.(25-27)Gac>Tac	p.D9Y		NM_001042425.1	NP_001035890.1	P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	13					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				ACCTGCCAGTCCCCCATTTTG	0.697000													28	33					2.20262e-25	4.64148e-25	0.002836	1	0
ACPL2	92370	broad.mit.edu	37	3	141011256	141011256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:141011256C>T	ENST00000508812.1	+	5	2532	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F	RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393007.1_Missense_Mutation_p.L202F|ACPL2_ENST00000393010.2_Missense_Mutation_p.L218F|ACPL2_ENST00000286353.4_Missense_Mutation_p.L218F|ACPL2_ENST00000504264.1_Missense_Mutation_p.L201F|ACPL2_ENST00000502783.1_Missense_Mutation_p.L180F			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	218						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GCTGGCCTTGCTTTATGGCTT	0.483000													24	47					0	0	0.003954	0	0
CLCA4	22802	broad.mit.edu	37	1	87025615	87025615	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:87025615G>A	ENST00000370563.3	+	2	202	c.159_splice	c.e2-1	p.D54_splice	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	54						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTAATGACAGGATATGGTGAC	0.348000													61	111					0	0	0.003610	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008598	142008598	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142008598C>T	ENST00000390387.3	+	0	118																											ACAGCTGTTTCCCAGACTCCA	0.453000													17	29					0	0	0.004990	0	0
GPR123	84435	broad.mit.edu	37	10	134898504	134898504	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:134898504C>T	ENST00000607359.1	+	8	1566	c.1566C>T	c.(1564-1566)cgC>cgT	p.R522R				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GTATCCTCCGCCTCTGCATCT	0.542000													27	79					0	0	0.004289	0	0
ANKRD27	84079	broad.mit.edu	37	19	33110260	33110260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:33110260G>A	ENST00000306065.4	-	20	2071	c.1913C>T	c.(1912-1914)tCc>tTc	p.S638F		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	638					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)					GGAGTCCACGGAGCGCTGCGG	0.612000													22	38					0	0	0.003330	0	0
RTN3	10313	broad.mit.edu	37	11	63517625	63517625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:63517625C>T	ENST00000377819.5	+	4	2847	c.2693C>T	c.(2692-2694)tCc>tTc	p.S898F	RTN3_ENST00000341307.2_Missense_Mutation_p.S102F|RTN3_ENST00000354497.4_Missense_Mutation_p.S102F|RTN3_ENST00000356000.3_Missense_Mutation_p.S121F|RTN3_ENST00000339997.4_Missense_Mutation_p.S879F|RTN3_ENST00000537981.1_Missense_Mutation_p.S102F|RTN3_ENST00000540798.1_Missense_Mutation_p.S786F	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	898	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ATCTACAAGTCCGTCATCCAA	0.448000													7	25					0	0	0.004482	0	0
C10orf71	118461	broad.mit.edu	37	10	50531678	50531678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:50531678G>A	ENST00000374144.3	+	3	1376	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E	C10orf71_ENST00000323868.4_Missense_Mutation_p.G363E			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	363										endometrium(1)	1						GCTGTGGAAGGAAAAGCTCCC	0.532000													23	35					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179585898	179585898	+	Silent	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179585898A>G	ENST00000589042.1	-	79	23072	c.22848T>C	c.(22846-22848)gcT>gcC	p.A7616A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.A7299A|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.A6372A|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7299	Ig-like 58.						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)			CAACTTTTGAAGCTTCTAATT	0.353000													3	8					0	0	0.004672	0	0
ANKRD18A	253650	broad.mit.edu	37	9	38572032	38572032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:38572032G>A	ENST00000313339.3	-	4	448	c.398C>T	c.(397-399)tCc>tTc	p.S133F	ANKRD18A_ENST00000399703.5_3'UTR			Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	0										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						AAGTAGACGGGAGCAAGTGCT	0.323000													22	33					0	0	0.003330	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175015	140175015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140175015G>A	ENST00000526136.1	+	1	466	c.466G>A	c.(466-468)Gga>Aga	p.G156R	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.G156R|PCDHA2_ENST00000378132.1_Missense_Mutation_p.G156R	NM_018905.2	NP_061728.1												p.G156*(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCTAGAGGGAGCATCTGA	0.438000													37	58					0	0	0.003271	0	0
TAF1L	138474	broad.mit.edu	37	9	32632987	32632987	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:32632987C>A	ENST00000242310.4	-	1	2680	c.2591G>T	c.(2590-2592)aGg>aTg	p.R864M		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	864					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)		GAGCTTTAGCCTCTTCCGGAT	0.463000													43	108					2.81731e-22	5.9315e-22	0.003610	1	0
RGS16	6004	broad.mit.edu	37	1	182571242	182571242	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:182571242G>A	ENST00000367558.5	-	4	394	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	82	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						CTGTCTTCAGGAAAGCGTGGA	0.537000											OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	96	68					0	0	0.003610	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794303	15794303	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:15794303G>A	ENST00000550308.1	+	7	1028	c.647_splice	c.e7-1	p.E216_splice	CYP4F12_ENST00000324632.9_Splice_Site_p.E216_splice	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGCTCTGCAGGAGGCCCAGTG	0.517000													19	54					0	0	0.002780	0	0
BCL9	607	broad.mit.edu	37	1	147092780	147092780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:147092780C>T	ENST00000234739.3	+	8	3559	c.2819C>T	c.(2818-2820)cCc>cTc	p.P940L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	940	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCAAAACCTCCCCTTCAGAGT	0.567000			T	"""IGH@, IGL@"""	B-ALL								28	39					0	0	0.001271	0	0
IGHG2	3501	broad.mit.edu	37	14	106111115	106111115	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:106111115C>T	ENST00000390545.2	-	0	12																											ACCGATGGGCCCTTGGTGGAG	0.672000													5	45					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179542540	179542540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179542540C>T	ENST00000589042.1	-	146	34323	c.34099G>A	c.(34099-34101)Gaa>Aaa	p.E11367K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11050K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10123K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11050	Glu-rich.|Pro-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)			ACTTCCTCTTCCTCAGGTAGA	0.443000													22	25					0	0	0.002299	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789461	6789461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:6789461G>A	ENST00000338569.2	-	1	825	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATCAGGTGGGAAGAGCAGGT	0.498000													9	33					0	0	0.000443	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635543	34635543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:34635543C>T	ENST00000342136.4	+	9	1612	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F	IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S429F|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	429					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GACTTAAACTCTGTGTTTTTG	0.507000													56	153					0	0	0.003610	0	0
OR10G7	390265	broad.mit.edu	37	11	123909373	123909373	+	Silent	SNP	G	G	A	rs141545635	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:123909373G>A	ENST00000330487.5	-	1	344	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGTGTAGAGGAAACACTCGG	0.567000													20	42					0	0	0.004656	0	0
OR51F1	256892	broad.mit.edu	37	11	4791114	4791114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4791114G>A	ENST00000380383.1	-	1	54	c.55C>T	c.(55-57)Cca>Tca	p.P19S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.P12S			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	12						integral to membrane	olfactory receptor activity	p.P12fs*5(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGAAGGTTGGAAATTTAGAT	0.443000													4	12					0	0	0.000248	0	0
TTC27	55622	broad.mit.edu	37	2	32958980	32958980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:32958980G>A	ENST00000317907.4	+	11	1550	c.1319G>A	c.(1318-1320)tGg>tAg	p.W440*		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	440							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CCACCTCACTGGGCCATTCAG	0.343000													12	53					0	0	0.001855	0	0
ADAM15	8751	broad.mit.edu	37	1	155030122	155030122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:155030122G>A	ENST00000356955.2	+	13	1434	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	ADAM15_ENST00000368410.2_Missense_Mutation_p.D151N|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.D445N|ADAM15_ENST00000360674.4_Missense_Mutation_p.D445N|ADAM15_ENST00000359280.4_Missense_Mutation_p.D445N|ADAM15_ENST00000449910.2_Missense_Mutation_p.D445N|ADAM15_ENST00000368412.3_Missense_Mutation_p.D445N|ADAM15_ENST00000271836.6_Missense_Mutation_p.D445N|ADAM15_ENST00000368413.1_Missense_Mutation_p.D151N|ADAM15_ENST00000447332.3_Missense_Mutation_p.D429N|ADAM15_ENST00000531455.1_Missense_Mutation_p.D455N	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	445	Disintegrin.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	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)			GGACTGCGTCGATCCCTGCTG	0.612000													11	146					0	0	0.000978	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713255	142713255	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:142713255C>T	ENST00000369381.2	-	0	1350																											ACATCTCTTTCATTTCCTTTA	0.378000													4	11					0	0	0.000602	0	0
EPPK1	83481	broad.mit.edu	37	8	144945385	144945385	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:144945385C>T	ENST00000525985.1	-	2	2108	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A				P58107	EPIPL_HUMAN	epiplakin 1	679						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)			ACAGCAGCTTCGCGAACACAT	0.602000													11	19					0	0	0.000978	0	0
RP1L1	94137	broad.mit.edu	37	8	10466652	10466652	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:10466652C>T	ENST00000382483.3	-	4	5179	c.4956G>A	c.(4954-4956)gaG>gaA	p.E1652E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1652					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACTCCTCCCCCTCCGCCTCCT	0.667000													10	13					0	0	0.001855	0	0
GTPBP2	54676	broad.mit.edu	37	6	43596721	43596721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:43596721G>A	ENST00000307126.5	-	1	178	c.179C>T	c.(178-180)cCc>cTc	p.P60L		NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	60							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CACCTCGGGGGGCAAATACGG	0.622000													4	21					0	0	0.000602	0	0
KIF4B	285643	broad.mit.edu	37	5	154394675	154394675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:154394675G>A	ENST00000435029.4	+	1	1416	c.1256G>A	c.(1255-1257)aGg>aAg	p.R419K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	419					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R419M(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGTTGGAGAGGATCATTTTG	0.478000													25	124					0	0	0.001271	0	0
PRKG1	5592	broad.mit.edu	37	10	54011354	54011354	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:54011354C>T	ENST00000373980.4	+	10	1518	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	PRKG1_ENST00000373975.2_Silent_p.F70F|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Silent_p.F340F|PRKG1_ENST00000401604.2_Silent_p.F352F	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	352	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)		CGGCTTTCTTCGCCAACCTGA	0.408000													5	22					0	0	0.000602	0	0
CUBN	8029	broad.mit.edu	37	10	17085910	17085910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:17085910G>A	ENST00000377833.4	-	26	3810	c.3745C>T	c.(3745-3747)Cgt>Tgt	p.R1249C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1249	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACTAGAACGAATAAGAGGG	0.428000													9	29					0	0	0.004482	0	0
PI4KA	5297	broad.mit.edu	37	22	21096518	21096518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:21096518G>A	ENST00000255882.6	-	32	3825	c.3739C>T	c.(3739-3741)Ccg>Tcg	p.P1247S	PI4KA_ENST00000572273.1_Missense_Mutation_p.P1189S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1189					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGTCCTACCGGCACTTCCACT	0.627000											OREG0026324	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	108					0	0	0.003610	0	0
TBC1D1	23216	broad.mit.edu	37	4	38020051	38020051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:38020051C>T	ENST00000261439.4	+	4	1314	c.959C>T	c.(958-960)tCc>tTc	p.S320F	TBC1D1_ENST00000508802.1_Missense_Mutation_p.S320F	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	320	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						AAGGAGATATCCTTTTGCTCT	0.303000													23	38					0	0	0.002299	0	0
BAHCC1	57597	broad.mit.edu	37	17	79414171	79414171	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:79414171G>A	ENST00000307745.7	+	15	3273	c.3273G>A	c.(3271-3273)ccG>ccA	p.P1091P																								CCACCGCCCCGGGGGCCCAGC	0.682000													17	25					0	0	0.000958	0	0
TPP1	1200	broad.mit.edu	37	11	6636489	6636489	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:6636489G>A	ENST00000533371.1	-	10	1407	c.609C>T	c.(607-609)ggC>ggT	p.G203G	TPP1_ENST00000299427.6_Silent_p.G446G			O14773	TPP1_HUMAN	tripeptidyl peptidase I	446					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GGTAGGCACGGCCACTGGCAT	0.547000													19	67					0	0	0.001523	0	0
CUL5	8065	broad.mit.edu	37	11	107920788	107920788	+	Nonsense_Mutation	SNP	C	C	T	rs138143013		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:107920788C>T	ENST00000393094.2	+	4	1022	c.406C>T	c.(406-408)Cga>Tga	p.R136*		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	136					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CAGTATTGTTCGAAAGGTAAG	0.308000													23	34					0	0	0.003330	0	0
PTGIR	5739	broad.mit.edu	37	19	47124583	47124583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:47124583C>T	ENST00000291294.2	-	3	1248	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	PTGIR_ENST00000598865.1_Missense_Mutation_p.G160E|PTGIR_ENST00000594275.1_Missense_Mutation_p.G129E|PTGIR_ENST00000597185.1_Missense_Mutation_p.G101E	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	372					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GGACGACGTTCCCACGGCGCT	0.647000													23	42					0	0	0.001882	0	0
PKD1L1	168507	broad.mit.edu	37	7	47866967	47866967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:47866967G>A	ENST00000289672.2	-	45	6885	c.6835C>T	c.(6835-6837)Cgc>Tgc	p.R2279C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2279					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						GCCCGTGTGCGACTCTCTCTC	0.667000													17	32					0	0	0.001523	0	0
GPR152	390212	broad.mit.edu	37	11	67219040	67219040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:67219040G>A	ENST00000312457.2	-	1	1160	c.1156C>T	c.(1156-1158)Ccc>Tcc	p.P386S		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	386						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)			TGGGCTGTGGGATCCGACTGT	0.637000													22	24					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9067634	9067634	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9067634C>T	ENST00000397910.4	-	3	20015	c.19812G>A	c.(19810-19812)aaG>aaA	p.K6604K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6606	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						AATAAGATTCCTTTTCAGAAG	0.423000													36	106					0	0	0.002222	0	0
RHBDF2	79651	broad.mit.edu	37	17	74470605	74470605	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:74470605G>A	ENST00000591885.1	-	12	1864	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	RHBDF2_ENST00000389760.4_Silent_p.I438I|RHBDF2_ENST00000313080.4_Silent_p.I467I			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	467					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CCCCCAGGTGGATCAGGTCAA	0.642000													26	51					0	0	0.001786	0	0
SPTA1	6708	broad.mit.edu	37	1	158631086	158631086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158631086C>T	ENST00000368148.3	-	18	2758	c.2578G>A	c.(2578-2580)Gta>Ata	p.V860I	SPTA1_ENST00000368147.3_Missense_Mutation_p.V860I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	860					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)					CCTTCCTCTACCATTTTGTTT	0.428000													35	44					0	0	0.004289	0	0
RELN	5649	broad.mit.edu	37	7	103301924	103301924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:103301924G>A	ENST00000428762.1	-	12	1499	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L	RELN_ENST00000424685.2_Missense_Mutation_p.S447L|RELN_ENST00000343529.5_Missense_Mutation_p.S447L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	447					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)		TGATAAGCCTGATTCTATCGT	0.408000													13	31					0	0	0.001855	0	0
PLXNB2	23654	broad.mit.edu	37	22	50724285	50724285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:50724285G>A	ENST00000449103.1	-	11	2172	c.2032C>T	c.(2032-2034)Ccc>Tcc	p.P678S	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P678S|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	678					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)		TGGTTCATGGGGATCACCAGG	0.647000													29	33					0	0	0.001786	0	0
DNAH8	1769	broad.mit.edu	37	6	38830154	38830154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:38830154G>A	ENST00000359357.3	+	42	5833	c.5579G>A	c.(5578-5580)gGa>gAa	p.G1860E	DNAH8_ENST00000441566.1_Missense_Mutation_p.G1860E|DNAH8_ENST00000449981.2_Missense_Mutation_p.G2077E					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						AAAGACATGGGAAGGTGTTTG	0.463000													42	68					0	0	0.002852	0	0
KIRREL2	84063	broad.mit.edu	37	19	36350386	36350386	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:36350386C>T	ENST00000360202.5	+	5	724	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	KIRREL2_ENST00000592409.1_Silent_p.L176L|KIRREL2_ENST00000347900.6_Silent_p.L126L|KIRREL2_ENST00000586102.2_Silent_p.L176L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Silent_p.L176L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	176	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	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)			CCTCCAGACCCTGCTGAAGGA	0.537000													16	24					0	0	0.004990	0	0
MYH8	4626	broad.mit.edu	37	17	10319000	10319000	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:10319000G>A	ENST00000403437.2	-	6	631	c.537C>T	c.(535-537)atC>atT	p.I179I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	179	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						TCACATACGTGATCAGGATGG	0.343000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				10	11					0	0	0.000978	0	0
LAMA3	3909	broad.mit.edu	37	18	21453120	21453120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:21453120C>T	ENST00000269217.6	+	1	317	c.112C>T	c.(112-114)Ctt>Ttt	p.L38F	LAMA3_ENST00000399516.3_Intron|LAMA3_ENST00000313654.9_Intron|LAMA3_ENST00000587184.1_Missense_Mutation_p.L38F	NM_000227.3	NP_000218.2	Q16787	LAMA3_HUMAN	laminin, alpha 3	0					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGCCATTTCTTCAGCCTCC	0.532000													65	50					0	0	0.003610	0	0
LEPRE1	64175	broad.mit.edu	37	1	43228102	43228102	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:43228102G>A	ENST00000236040.4	-	2	550	c.510C>T	c.(508-510)ttC>ttT	p.F170F	LEPRE1_ENST00000296388.5_Silent_p.F170F|LEPRE1_ENST00000397054.3_Silent_p.F170F	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	170					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)	GATTGCCCACGAAGAAGGTGT	0.463000													63	107					0	0	0.003610	0	0
ZNF528	84436	broad.mit.edu	37	19	52919202	52919202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:52919202C>T	ENST00000360465.3	+	7	1523	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAGTGCGTTCCAGCCTCATA	0.418000													13	51					0	0	0.001855	0	0
SPATC1	375686	broad.mit.edu	37	8	145095815	145095815	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:145095815C>T	ENST00000377470.3	+	3	1215	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	SPATC1_ENST00000447830.2_Silent_p.S371S	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	371										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCATAATTCCCCAACCCAGA	0.642000													13	23					0	0	0.002450	0	0
TG	7038	broad.mit.edu	37	8	133885424	133885424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:133885424C>T	ENST00000220616.4	+	5	636	c.596C>T	c.(595-597)aCc>aTc	p.T199I	TG_ENST00000377869.1_Missense_Mutation_p.T199I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	199	Thyroglobulin type-1 3.				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)		TTTGTCAACACCACAGACATG	0.527000													5	30					0	0	0.000602	0	0
LIPE	3991	broad.mit.edu	37	19	42931147	42931147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:42931147G>A	ENST00000244289.4	-	1	431	c.155C>T	c.(154-156)gCt>gTt	p.A52V	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	52					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TTGGTTTGAAGCAGGCTTCTG	0.532000													27	89					0	0	0.005443	0	0
DLL1	28514	broad.mit.edu	37	6	170592532	170592532	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:170592532A>G	ENST00000366756.3	-	9	2168	c.1835T>C	c.(1834-1836)aTc>aCc	p.I612T		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	612					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGTGTTCTTGATCTGCGTGGC	0.612000													21	88					0	0	0.003330	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516606	140516606	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140516606G>A	ENST00000231134.5	+	1	1807	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCCGCGTGGGAGCCACAG	0.687000													22	25					0	0	0.002299	0	0
SMAP2	64744	broad.mit.edu	37	1	40881040	40881040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:40881040C>T	ENST00000539317.1	+	7	621	c.428C>T	c.(427-429)tCc>tTc	p.S143F	SMAP2_ENST00000487871.1_3'UTR	NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	223					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|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;1.04e-17)			CCTTCTTCTTCCGGTTCCAGA	0.453000													75	199					0	0	0.003610	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30950957	30950957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:30950957C>T	ENST00000402321.1	-	3	1572	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	GAL3ST1_ENST00000443111.2_Missense_Mutation_p.D419N|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.D419N|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.D419N|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.D419N|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.D419N|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.D419N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	419					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CGCAGGAAATCGCGAATGAAC	0.682000													13	25					0	0	0.002450	0	0
VPS13A	23230	broad.mit.edu	37	9	79936480	79936480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:79936480C>T	ENST00000360280.3	+	44	5908	c.5648C>T	c.(5647-5649)tCc>tTc	p.S1883F	VPS13A_ENST00000376634.4_Missense_Mutation_p.S1883F|VPS13A_ENST00000357409.5_Missense_Mutation_p.S1883F|VPS13A_ENST00000376636.3_Missense_Mutation_p.S1844F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1883					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTTTAAATTCCCTTGGACTT	0.338000													18	13					0	0	0.006122	0	0
EVPL	2125	broad.mit.edu	37	17	74006039	74006039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:74006039C>T	ENST00000301607.3	-	22	3500	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1105K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1083	Central fibrous rod domain.				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						AGATTCTTCTCCACCTTGACT	0.602000													7	171					0	0	0.001984	0	0
GH2	2689	broad.mit.edu	37	17	61958757	61958757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:61958757G>A	ENST00000332800.7	-	2	266	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	GH2_ENST00000449787.2_Missense_Mutation_p.R45C|GH2_ENST00000423893.2_Missense_Mutation_p.R45C|GH2_ENST00000456543.2_Missense_Mutation_p.R45C	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	45						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGGTACAGGCGACGGGCGCGG	0.572000													85	183					0	0	0.003610	0	0
ADAM30	11085	broad.mit.edu	37	1	120437582	120437582	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:120437582C>T	ENST00000369400.1	-	1	1536	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	460	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TCATTTCCTTCCTGCCTACAC	0.463000													210	375					0	0	0.003610	0	0
OCLN	100506658	broad.mit.edu	37	5	68805231	68805231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:68805231C>T	ENST00000355237.2	+	3	750	c.314C>T	c.(313-315)cCt>cTt	p.P105L	OCLN_ENST00000380766.2_Missense_Mutation_p.P105L|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000396442.2_Missense_Mutation_p.P105L	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	105	Gly/Tyr-rich.|MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTAGGCTACCCTTATGGAGGA	0.507000													58	51					0	0	0.003610	0	0
FBLN2	2199	broad.mit.edu	37	3	13659764	13659764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:13659764G>A	ENST00000404922.3	+	6	2037	c.1918G>A	c.(1918-1920)Gat>Aat	p.D640N	FBLN2_ENST00000535798.1_Missense_Mutation_p.D666N|FBLN2_ENST00000295760.7_Missense_Mutation_p.D640N|FBLN2_ENST00000492059.1_Missense_Mutation_p.D640N	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	640	EGF-like 1; calcium-binding.					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)			ACTGCAGGACGATGGCCGCAC	0.612000													15	38					0	0	0.003163	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49293287	49293287	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:49293287T>A	ENST00000559471.1	-	15	2298	c.2035A>T	c.(2035-2037)Aat>Tat	p.N679Y	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.N634Y|SECISBP2L_ENST00000559122.1_5'UTR	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	679										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AGAACCTGATTACAATACCTG	0.333000													6	16					0	0	0.001984	0	0
GALNT13	114805	broad.mit.edu	37	2	155102466	155102466	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:155102466G>A	ENST00000392825.3	+	7	1395	c.828G>A	c.(826-828)agG>agA	p.R276R	GALNT13_ENST00000409237.1_Silent_p.R276R	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	276						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						AAATGGACAGGAGGAAAGGAG	0.373000													3	10					0	0	0.004672	0	0
FCGBP	8857	broad.mit.edu	37	19	40364281	40364281	+	Silent	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:40364281T>A	ENST00000221347.6	-	31	14368	c.14361A>T	c.(14359-14361)gtA>gtT	p.V4787V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4787	TIL 11.					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)			GGCCCACGGGTACGCAGGTGT	0.657000													17	34					0	0	0.001882	0	0
AMPD1	270	broad.mit.edu	37	1	115218600	115218600	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:115218600G>A	ENST00000369538.3	-	10	1547	c.1500C>T	c.(1498-1500)ttC>ttT	p.F500F	AMPD1_ENST00000353928.6_Silent_p.F471F|AMPD1_ENST00000520113.2_Silent_p.F504F	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	471					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AATGTGGAAGGAAATTCTTGG	0.438000													40	98					0	0	0.003610	0	0
DHRS7C	201140	broad.mit.edu	37	17	9683210	9683210	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:9683210T>C	ENST00000330255.4	-	3	425	c.413A>G	c.(412-414)aAg>aGg	p.K138R	DHRS7C_ENST00000571134.1_Missense_Mutation_p.K137R	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	138						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CAGAGAAATCTTATGGGCAGG	0.483000													9	14					0	0	0.000443	0	0
ADAM18	8749	broad.mit.edu	37	8	39495126	39495126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:39495126C>T	ENST00000265707.5	+	9	776	c.731C>T	c.(730-732)tCc>tTc	p.S244F	ADAM18_ENST00000379866.1_Missense_Mutation_p.S220F|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	244	Peptidase M12B.				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)			AACCAGATTTCCACCAGTGGG	0.363000													4	18					0	0	0.001168	0	0
PSD	5662	broad.mit.edu	37	10	104175790	104175790	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:104175790C>T	ENST00000020673.5	-	3	1267	c.741G>A	c.(739-741)ttG>ttA	p.L247L	PSD_ENST00000406432.1_Silent_p.L247L	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	247					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGGGGGGGTCCAAGGAGCCAT	0.612000													5	11					0	0	0.000602	0	0
BAI2	576	broad.mit.edu	37	1	32196529	32196529	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:32196529G>C	ENST00000373658.3	-	29	4593	c.4252C>G	c.(4252-4254)Ccc>Gcc	p.P1418A	BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398547.1_Missense_Mutation_p.P1351A|BAI2_ENST00000398556.3_Missense_Mutation_p.P1333A|BAI2_ENST00000398542.1_Missense_Mutation_p.P1318A|BAI2_ENST00000398538.1_Missense_Mutation_p.P1406A|BAI2_ENST00000373655.2_Missense_Mutation_p.P1418A|BAI2_ENST00000440175.2_Missense_Mutation_p.P1027A|BAI2_ENST00000257070.4_Missense_Mutation_p.P1385A|BAI2_ENST00000527361.1_Missense_Mutation_p.P1385A	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1418					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ATTCCATAGGGATTCTGGAGA	0.677000													16	52					0	0	0.001216	0	0
PSD	5662	broad.mit.edu	37	10	104176757	104176757	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:104176757G>A	ENST00000020673.5	-	2	565	c.39C>T	c.(37-39)gaC>gaT	p.D13D	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Silent_p.D13D	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	13					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGATGGCACAGTCGCCTTCCG	0.721000													4	6					0	0	0.000248	0	0
CALML3	810	broad.mit.edu	37	10	5567393	5567393	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:5567393G>A	ENST00000315238.1	+	1	470	c.345G>A	c.(343-345)gaG>gaA	p.E115E	RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	115	EF-hand 3.						calcium ion binding			endometrium(3)|lung(2)	5						GGCTGGGGGAGAAGCTGAGTG	0.647000													4	18					0	0	0.000602	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981677	92981677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:92981677C>T	ENST00000268164.3	+	4	622	c.385C>T	c.(385-387)Cga>Tga	p.R129*	ST8SIA2_ENST00000539113.1_Nonsense_Mutation_p.R108*	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	129					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CATCTTCGATCGAGACAGCAC	0.468000													69	117					0	0	0.003610	0	0
HAVCR1	26762	broad.mit.edu	37	5	156456634	156456634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:156456634G>A	ENST00000425854.1	-	7	1703	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	HAVCR1_ENST00000339252.3_3'UTR|HAVCR1_ENST00000544197.1_3'UTR|HAVCR1_ENST00000522693.1_Missense_Mutation_p.H391Y|HAVCR1_ENST00000523175.1_3'UTR			Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATGCCAGATGAAACTGAAAC	0.403000													7	36					0	0	0.001984	0	0
RIN3	79890	broad.mit.edu	37	14	93125560	93125560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:93125560C>T	ENST00000216487.7	+	7	2240	c.2081C>T	c.(2080-2082)gCc>gTc	p.A694V	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	694	Interaction with RAB5B.				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)				CTGAAGGAAGCCATCAACTCA	0.522000													74	202					0	0	0.003610	0	0
ANK2	287	broad.mit.edu	37	4	114274972	114274972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:114274972C>T	ENST00000357077.4	+	38	5251	c.5198C>T	c.(5197-5199)tCa>tTa	p.S1733L	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S1700L|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1700					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)		AAAGGTAGTTCAGAAGAGTCA	0.408000													66	59					0	0	0.003610	0	0
OR1K1	392392	broad.mit.edu	37	9	125562894	125562894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:125562894G>A	ENST00000277309.2	+	1	525	c.493G>A	c.(493-495)Gct>Act	p.A165T		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						CCTGCTCATGGCTCGCTTGTC	0.602000													26	24					0	0	0.001786	0	0
TFCP2	7024	broad.mit.edu	37	12	51510135	51510135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:51510135C>T	ENST00000307660.4	-	4	1140	c.420G>A	c.(418-420)tgG>tgA	p.W140*	TFCP2_ENST00000549867.1_Nonsense_Mutation_p.W140*|TFCP2_ENST00000548115.1_Nonsense_Mutation_p.W140*|TFCP2_ENST00000257915.5_Nonsense_Mutation_p.W140*	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	140	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GGTTCCACCTCCAGCCCTCTA	0.438000													4	56					0	0	0.000602	0	0
NCAN	1463	broad.mit.edu	37	19	19349202	19349202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:19349202G>A	ENST00000252575.5	+	11	3434	c.3391G>A	c.(3391-3393)Gaa>Aaa	p.E1131K	NCAN_ENST00000538881.1_Missense_Mutation_p.E582K	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1131	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTCACCGGAGGAACACAGCTT	0.637000													40	67					0	0	0.003214	0	0
CAPN13	92291	broad.mit.edu	37	2	30966434	30966434	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:30966434C>T	ENST00000295055.8	-	13	1436	c.1260G>A	c.(1258-1260)gaG>gaA	p.E420E	CAPN13_ENST00000534090.2_Silent_p.E420E	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	420					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)					GTGGAAATTTCTCCCGGAACC	0.478000													33	35					0	0	0.002445	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214425	140214425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140214425C>T	ENST00000525929.1	+	1	457	c.457C>T	c.(457-459)Cca>Tca	p.P153S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P153S|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1												p.P153S(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCGGTTTCCACTAGAGGG	0.557000													30	40					0	0	0.004878	0	0
THRAP3	9967	broad.mit.edu	37	1	36752235	36752235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:36752235C>T	ENST00000354618.5	+	4	628	c.404C>T	c.(403-405)cCt>cTt	p.P135L	THRAP3_ENST00000469141.2_Missense_Mutation_p.P135L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	135	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGAAGGTCCCCTTCACCAAGG	0.542000			T	USP6	aneurysmal bone cysts								92	182					0	0	0.003610	0	0
LTBP1	4052	broad.mit.edu	37	2	33172839	33172839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:33172839G>A	ENST00000404816.2	+	1	801	c.448G>A	c.(448-450)Ggc>Agc	p.G150S	LTBP1_ENST00000354476.3_Missense_Mutation_p.G150S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	150					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)				GACCCAGAGCGGCGGAGGCTC	0.721000													9	7					0	0	0.000673	0	0
ZNF800	168850	broad.mit.edu	37	7	127013565	127013565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:127013565C>T	ENST00000393313.1	-	5	2416	c.1825G>A	c.(1825-1827)Gta>Ata	p.V609I	ZNF800_ENST00000265827.3_Missense_Mutation_p.V609I|ZNF800_ENST00000485577.1_5'UTR|ZNF800_ENST00000393312.1_Missense_Mutation_p.V609I			Q2TB10	ZN800_HUMAN	zinc finger protein 800	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GTGACTTTTACTTCAATACCG	0.373000													29	49					0	0	0.001512	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459956	107459956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:107459956C>T	ENST00000409382.3	-	2	1088	c.478G>A	c.(478-480)Gag>Aag	p.E160K	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.E160K|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E160K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	160					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						AAAGCCCCCTCCCGTGGGCCT	0.647000													27	93					0	0	0.005443	0	0
CCDC146	57639	broad.mit.edu	37	7	76889394	76889394	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:76889394T>C	ENST00000285871.4	+	8	954	c.827T>C	c.(826-828)gTt>gCt	p.V276A	CCDC146_ENST00000431197.1_Missense_Mutation_p.V22A|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	276										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CTAAAGAAAGTTGAAAACAAG	0.368000													65	97					0	0	0.003610	0	0
GSAP	54103	broad.mit.edu	37	7	77010657	77010657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:77010657G>A	ENST00000257626.7	-	8	619	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		ACATGGATACGAAATTGTTCA	0.294000													13	37					0	0	0.004990	0	0
GRID1	2894	broad.mit.edu	37	10	87487690	87487690	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:87487690G>A	ENST00000327946.7	-	10	1540	c.1455C>T	c.(1453-1455)taC>taT	p.Y485Y	GRID1_ENST00000536331.1_Silent_p.Y56Y	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	485						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)	CAGGGGCTTGGTAAATCTCAT	0.537000										Multiple Myeloma(13;0.14)			15	58					0	0	0.004990	0	0
PARD3B	117583	broad.mit.edu	37	2	206364732	206364732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:206364732C>T	ENST00000406610.2	+	21	3364	c.3157C>T	c.(3157-3159)Cca>Tca	p.P1053S	PARD3B_ENST00000358768.2_Missense_Mutation_p.P991S|PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Missense_Mutation_p.P984S|PARD3B_ENST00000349953.3_Missense_Mutation_p.P952S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1053					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGAGCAAGGCCATCTGAGTA	0.448000													18	78					0	0	0.001523	0	0
CD177	57126	broad.mit.edu	37	19	43859808	43859808	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:43859808C>T	ENST00000378009.4	+	0	421				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CTGTCACTTTCCTAGACCCAG	0.547000													22	46					0	0	0.004656	0	0
ATP2B3	492	broad.mit.edu	37	X	152821606	152821606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:152821606G>A	ENST00000370186.1	+	12	2442	c.2116G>A	c.(2116-2118)Ggc>Agc	p.G706S	ATP2B3_ENST00000393842.1_Missense_Mutation_p.G706S|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G706S|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G720S|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G720S|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G720S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	720					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCAAATGCGGCATCATCCA	0.612000													31	13					0	0	0.001512	0	0
MAP4K1	11184	broad.mit.edu	37	19	39096813	39096813	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:39096813C>T	ENST00000591517.1	-	17	1228	c.1200_splice	c.e17+1	p.K400_splice	MAP4K1_ENST00000589130.1_Splice_Site_p.K396_splice|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Splice_Site_p.K400_splice|MAP4K1_ENST00000423454.2_Splice_Site_p.K62_splice	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	400					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)			AGGGCCTTACCTTGGGGGGAA	0.642000													7	16					0	0	0.000443	0	0
SCRN2	90507	broad.mit.edu	37	17	45915240	45915240	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:45915240G>A	ENST00000584123.1	-	7	1577	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	SCRN2_ENST00000407215.3_3'UTR|SCRN2_ENST00000290216.9_Silent_p.F416F			Q96FV2	SCRN2_HUMAN	secernin 2	416					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCCTCTTCACGAAGGCCTGGA	0.662000													16	9					0	0	0.004990	0	0
UMODL1	89766	broad.mit.edu	37	21	43533714	43533714	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:43533714C>T	ENST00000400427.1	+	12	2700	c.2304C>T	c.(2302-2304)tcC>tcT	p.S768S	UMODL1_ENST00000408989.2_Silent_p.S840S|UMODL1_ENST00000408910.2_Silent_p.S712S|UMODL1_ENST00000400424.1_Silent_p.S640S	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	746	Fibronectin type-III 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCATGGTCTCCAATGTGACCA	0.517000													11	24					0	0	0.001368	0	0
OR6B1	135946	broad.mit.edu	37	7	143701556	143701556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:143701556C>T	ENST00000408922.2	+	1	535	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	156					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)					TTTGGCATCTCCCTGGCGAAG	0.532000													19	28					0	0	0.001216	0	0
CACNB2	783	broad.mit.edu	37	10	18828250	18828250	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:18828250A>C	ENST00000396576.2	+	13	1916	c.1415A>C	c.(1414-1416)aAa>aCa	p.K472T	CACNB2_ENST00000324631.7_Missense_Mutation_p.K527T|CACNB2_ENST00000352115.6_Missense_Mutation_p.K503T|CACNB2_ENST00000377315.4_Missense_Mutation_p.K479T|CACNB2_ENST00000377328.1_Missense_Mutation_p.K277T|CACNB2_ENST00000377319.3_Missense_Mutation_p.K434T|CACNB2_ENST00000377329.4_Missense_Mutation_p.K473T|CACNB2_ENST00000377331.2_Missense_Mutation_p.K475T|CACNB2_ENST00000282343.8_Missense_Mutation_p.K499T|RP11-499P20.2_ENST00000425669.1_RNA	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	527					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAGTCAAGAAATCCCAGCAC	0.567000													8	31					0	0	0.000673	0	0
OR10T2	128360	broad.mit.edu	37	1	158368827	158368827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158368827C>T	ENST00000334438.1	-	1	429	c.430G>A	c.(430-432)Gag>Aag	p.E144K		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GAAATCAACTCCAACCCCAGC	0.473000													43	44					0	0	0.002852	0	0
NPTX1	4884	broad.mit.edu	37	17	78444653	78444653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:78444653G>A	ENST00000306773.4	-	5	1416	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	420	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCACTTGGTGGCCCCTCCGTA	0.657000													14	33					0	0	0.000958	0	0
CHD6	84181	broad.mit.edu	37	20	40081467	40081467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:40081467G>A	ENST00000373233.3	-	21	3413	c.3236C>T	c.(3235-3237)cCc>cTc	p.P1079L	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1079					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)				GGATCTCGTGGGCCTTTCGTC	0.547000													33	76					0	0	0.002836	0	0
LRRC41	10489	broad.mit.edu	37	1	46751383	46751383	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:46751383G>A	ENST00000343304.6	-	4	1431	c.1146C>T	c.(1144-1146)gcC>gcT	p.A382A	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	382										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TAGGCTGTGGGGCTGAGCTAG	0.587000													51	103					0	0	0.003610	0	0
AXL	558	broad.mit.edu	37	19	41758763	41758763	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:41758763A>C	ENST00000301178.4	+	16	2007	c.1817A>C	c.(1816-1818)cAg>cCg	p.Q606P	AXL_ENST00000593513.1_Missense_Mutation_p.Q338P|AXL_ENST00000359092.3_Missense_Mutation_p.Q597P	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	606	Protein kinase.					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						GTCTGTTTCCAGGGTTCTGAA	0.592000													18	72					0	0	0.001523	0	0
ITGBL1	9358	broad.mit.edu	37	13	102359248	102359248	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:102359248G>A	ENST00000376180.3	+	9	1494	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G	ITGBL1_ENST00000376162.3_Silent_p.G332G|ITGBL1_ENST00000545560.2_Silent_p.G284G	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	425	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTGCTCGGGGAAGGGTGAGT	0.478000													8	85					0	0	0.000443	0	0
BOLA3	388962	broad.mit.edu	37	2	74362661	74362661	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:74362661G>A	ENST00000295326.4	-	3	324	c.294C>T	c.(292-294)atC>atT	p.I98I	BOLA3_ENST00000327428.5_3'UTR	NM_001035505.1	NP_001030582.1	Q53S33	BOLA3_HUMAN	bolA family member 3	0						extracellular region				large_intestine(1)|lung(1)	2						AGGGAAGAATGATGTCAGTGA	0.363000													14	38					0	0	0.003163	0	0
THBS2	7058	broad.mit.edu	37	6	169648950	169648950	+	Silent	SNP	G	G	A	rs139930955	by1000genomes	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:169648950G>A	ENST00000366787.3	-	4	420	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	57	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAAAGCGCACGAAGCGGTAAG	0.592000													23	32					0	0	0.002299	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63888727	63888727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:63888727G>A	ENST00000337537.3	-	4	1042	c.440C>T	c.(439-441)tCg>tTg	p.S147L	PPP2R5E_ENST00000422769.2_Missense_Mutation_p.S71L|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S147L|PPP2R5E_ENST00000553266.1_5'UTR	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	147					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GTGTGGCCACGATGCCTCAAG	0.373000													10	53					0	0	0.000673	0	0
LCE3C	353144	broad.mit.edu	37	1	152573212	152573212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:152573212C>T	ENST00000333881.3	+	1	75	c.5C>T	c.(4-6)tCc>tTc	p.S2F		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	2					keratinization					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		GCAAAGATGTCCTGCCAGCAA	0.502000													8	142					0	0	0.003080	0	0
MACC1	346389	broad.mit.edu	37	7	20199187	20199187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:20199187G>A	ENST00000400331.5	-	5	1105	c.797C>T	c.(796-798)tCg>tTg	p.S266L	MACC1_ENST00000332878.4_Missense_Mutation_p.S266L|MACC1_ENST00000589011.1_Missense_Mutation_p.S266L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	266					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CACAGTGCACGAAAGATCATG	0.473000													21	37					0	0	0.002780	0	0
DBX1	120237	broad.mit.edu	37	11	20178180	20178180	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:20178180G>A	ENST00000227256.3	-	4	728	c.729C>T	c.(727-729)tcC>tcT	p.S243S	DBX1_ENST00000524983.2_Intron	NM_001029865.2	NP_001025036.2	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	223					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGGCTCCGGGGGACGCACGGG	0.627000													34	36					0	0	0.001287	0	0
PLEC	5339	broad.mit.edu	37	8	144995943	144995943	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:144995943G>A	ENST00000322810.4	-	32	8626	c.8457C>T	c.(8455-8457)ctC>ctT	p.L2819L	PLEC_ENST00000357649.2_Silent_p.L2686L|PLEC_ENST00000436759.2_Silent_p.L2709L|PLEC_ENST00000345136.3_Silent_p.L2682L|PLEC_ENST00000356346.3_Silent_p.L2668L|PLEC_ENST00000354958.2_Silent_p.L2660L|PLEC_ENST00000398774.2_Silent_p.L2650L|PLEC_ENST00000354589.3_Silent_p.L2682L|PLEC_ENST00000527096.1_Silent_p.L2705L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2819	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						CCCGCCGTGCGAGCTCGTCCA	0.667000													15	26					0	0	0.006122	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46942885	46942885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:46942885G>A	ENST00000429979.1	-	4	1205	c.601C>T	c.(601-603)Cct>Tct	p.P201S	KIAA0226L_ENST00000378781.3_Missense_Mutation_p.P201S|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.P66S|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.P201S|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.P201S|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.P134S|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.P201S|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.P44S|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.P44S	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	201										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ACATCAACAGGCAGCACAAAT	0.353000													24	138					0	0	0.003954	0	0
ARMC6	93436	broad.mit.edu	37	19	19165050	19165050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:19165050G>A	ENST00000535612.1	+	6	1375	c.943G>A	c.(943-945)Gac>Aac	p.D315N	ARMC6_ENST00000269932.6_Missense_Mutation_p.D290N|ARMC6_ENST00000392336.3_Missense_Mutation_p.D315N|ARMC6_ENST00000546344.1_Missense_Mutation_p.D222N|ARMC6_ENST00000392335.2_Missense_Mutation_p.D290N	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	315							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGAGGTCGTCGACCTCGGGGG	0.627000											OREG0025376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	48					0	0	0.000443	0	0
STK31	56164	broad.mit.edu	37	7	23871957	23871957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:23871957G>A	ENST00000354639.3	+	24	3427	c.2963G>A	c.(2962-2964)aGa>aAa	p.R988K	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.R988K|STK31_ENST00000433467.2_Missense_Mutation_p.R988K|STK31_ENST00000355870.3_Missense_Mutation_p.R1011K	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	1011	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGAAGACAAGAAATGGTGAA	0.313000													60	118					0	0	0.003610	0	0
OGFOD3	79701	broad.mit.edu	37	17	80369398	80369398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:80369398G>A	ENST00000313056.5	-	3	464	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	OGFOD3_ENST00000329197.5_Missense_Mutation_p.P105S	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3									p.P105S(2)									CACTTTCGGGGAGTGCAGCCT	0.622000													15	32					0	0	0.001216	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116061184	116061184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:116061184C>T	ENST00000369271.3	-	13	1771	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.D491N|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.D544N	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	491					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GGCAGGCCATCGATGTAAGTG	0.612000													16	38					0	0	0.006122	0	0
CLEC4C	170482	broad.mit.edu	37	12	7882210	7882210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:7882210C>T	ENST00000542353.1	-	7	1114	c.624G>A	c.(622-624)atG>atA	p.M208I	CLEC4C_ENST00000540085.1_Missense_Mutation_p.M177I|CLEC4C_ENST00000354629.5_Missense_Mutation_p.M177I|CLEC4C_ENST00000360345.3_Missense_Mutation_p.M208I	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	208					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AGATCTTCTTCATCTTGCAAA	0.363000													26	37					0	0	0.004656	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985113	157985113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:157985113C>T	ENST00000389413.3	-	5	558	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	PTPRN2_ENST00000409483.1_Missense_Mutation_p.R114Q|PTPRN2_ENST00000389416.4_Missense_Mutation_p.R135Q|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R152Q|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R175Q	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	152						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R152Q(1)		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)		CAGGTGGCGTCGGAGGGCGTT	0.652000													40	65					0	0	0.001951	0	0
RP1	6101	broad.mit.edu	37	8	55538703	55538703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:55538703C>T	ENST00000220676.1	+	4	2409	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	754					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)			TCCACGATTTCCAAGAATTTC	0.299000													16	42					0	0	0.003163	0	0
KRT74	121391	broad.mit.edu	37	12	52966262	52966262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:52966262C>T	ENST00000549343.1	-	2	699	c.661G>A	c.(661-663)Gat>Aat	p.D221N	KRT74_ENST00000305620.2_Missense_Mutation_p.D221N			Q7RTS7	K2C74_HUMAN	keratin 74	221	Coil 1B.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TCCACCAGATCCCTCATGCTT	0.582000													9	62					0	0	0.000673	0	0
FASN	2194	broad.mit.edu	37	17	80039892	80039892	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:80039892G>A	ENST00000579758.1	-	5	685		c.e5+1		FASN_ENST00000306749.2_Silent_p.G2052G			P49327	FAS_HUMAN	fatty acid synthase						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)	CACCTGGGAGGCCTTCGTGCC	0.677000													10	23					0	0	0.000978	0	0
USP31	57478	broad.mit.edu	37	16	23080546	23080546	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:23080546G>A	ENST00000219689.7	-	16	2879	c.2880C>T	c.(2878-2880)tcC>tcT	p.S960S	USP31_ENST00000567975.1_Silent_p.S253S	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	960	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTACGACACTGGAGTTCAATC	0.542000													31	83					0	0	0.002445	0	0
HHATL	57467	broad.mit.edu	37	3	42740221	42740221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:42740221C>T	ENST00000441594.1	-	5	723	c.462G>A	c.(460-462)atG>atA	p.M154I	HHATL_ENST00000310417.5_Missense_Mutation_p.M154I	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	154					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TTAGGGGGTCCATCTTGAAGG	0.572000													50	104					0	0	0.003610	0	0
ADAM22	53616	broad.mit.edu	37	7	87810903	87810903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:87810903G>A	ENST00000398204.4	+	27	2707	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	ADAM22_ENST00000398201.4_Missense_Mutation_p.R831Q|ADAM22_ENST00000398209.3_Missense_Mutation_p.R795Q|ADAM22_ENST00000265727.7_Missense_Mutation_p.R831Q|ADAM22_ENST00000315984.7_Missense_Mutation_p.R795Q	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	831					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCGACCTCGAAGTAACTCT	0.403000													17	18					0	0	0.006122	0	0
NLRP11	204801	broad.mit.edu	37	19	56297047	56297047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:56297047G>A	ENST00000443188.1	-	12	3756	c.3046C>T	c.(3046-3048)Ccc>Tcc	p.P1016S	NLRP11_ENST00000360133.3_Missense_Mutation_p.P962S|NLRP11_ENST00000589093.1_Missense_Mutation_p.P1016S|NLRP11_ENST00000592953.1_Missense_Mutation_p.P917S|NLRP11_ENST00000589824.2_Missense_Mutation_p.P962S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	1016							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GACATTCTGGGAAATTTGAAA	0.373000													17	67					0	0	0.004007	0	0
ARSF	416	broad.mit.edu	37	X	3030424	3030424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:3030424G>A	ENST00000381127.1	+	11	1821	c.1600G>A	c.(1600-1602)Gtg>Atg	p.V534M	ARSF_ENST00000359361.2_Missense_Mutation_p.V534M|ARSF_ENST00000537104.1_Missense_Mutation_p.V534M	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	534						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)				GATTAAAAAGGTGGCCAACGC	0.567000													24	16					0	0	0.003330	0	0
SLC9C2	284525	broad.mit.edu	37	1	173503730	173503730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:173503730G>A	ENST00000367714.3	-	16	2289	c.1867C>T	c.(1867-1869)Cct>Tct	p.P623S	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	623					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATTATCATAGGATAAATATAT	0.259000													43	39					0	0	0.002522	0	0
CFAP54	144535	broad.mit.edu	37	12	97052043	97052043	+	Silent	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:97052043T>C	ENST00000524981.3	+	5	732	c.732T>C	c.(730-732)ctT>ctC	p.L244L				Q6ZTY8	CL063_HUMAN		218										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGCGCCAGCTTCTGCTGAGAA	0.403000													31	39					0	0	0.002445	0	0
CD163L1	283316	broad.mit.edu	37	12	7531782	7531782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:7531782C>T	ENST00000313599.3	-	9	2220	c.2163G>A	c.(2161-2163)atG>atA	p.M721I	CD163L1_ENST00000396630.1_Missense_Mutation_p.M721I|CD163L1_ENST00000416109.2_Missense_Mutation_p.M731I|CD163L1_ENST00000544331.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	721	SRCR 7.					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						CAGCAATGTTCATTCCCCAGC	0.488000													12	62					0	0	0.001855	0	0
VCP	7415	broad.mit.edu	37	9	35065361	35065361	+	Missense_Mutation	SNP	G	G	A	rs121909330		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:35065361G>A	ENST00000358901.6	-	5	1358	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	155			R -> C (in IBMPFD; also in one patient without evidence of Paget disease of the bone).|R -> H (in IBMPFD; strongly reduced affinity for ADP and increased affinity for ATP).|R -> P (in IBMPFD).		activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATCCCACCACGGACAAGAAAA	0.493000													12	31					0	0	0.001855	0	0
LRP1	4035	broad.mit.edu	37	12	57569831	57569831	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:57569831C>T	ENST00000243077.3	+	24	4399	c.3933C>T	c.(3931-3933)ctC>ctT	p.L1311L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1311					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)	AGAGCGCCCTCTACTGGACCG	0.622000											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	61					0	0	0.000958	0	0
DSP	1832	broad.mit.edu	37	6	7583091	7583091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:7583091C>T	ENST00000379802.3	+	24	5937	c.5596C>T	c.(5596-5598)Cag>Tag	p.Q1866*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q1267*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1866	Central fibrous rod domain.				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)		TGACCTGAATCAGTGGAAGAC	0.453000													9	61					0	0	0.004482	0	0
EPPK1	83481	broad.mit.edu	37	8	144942663	144942663	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:144942663T>C	ENST00000525985.1	-	2	4830	c.4759A>G	c.(4759-4761)Atc>Gtc	p.I1587V				P58107	EPIPL_HUMAN	epiplakin 1	1587						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)			GCCTCTGGGATGCTCATCCTC	0.637000													4	13					0	0	0.000248	0	0
NARFL	64428	broad.mit.edu	37	16	789655	789655	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:789655G>A	ENST00000251588.2	-	2	166	c.150C>T	c.(148-150)ttC>ttT	p.F50F	NARFL_ENST00000540986.1_5'UTR|NARFL_ENST00000301694.5_Silent_p.F50F	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	50					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GGTTAATTTGGAAGTAGCTCC	0.537000													52	78					0	0	0.003610	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445436	10445436	+	Silent	SNP	G	G	A	rs138229174		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:10445436G>A	ENST00000326756.3	-	3	2955	c.2517C>T	c.(2515-2517)atC>atT	p.I839I		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GAGGTGTCTCGATATTTGGGG	0.458000													36	108					0	0	0.003755	0	0
QARS	5859	broad.mit.edu	37	3	49136085	49136085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:49136085G>A	ENST00000306125.6	-	20	2241	c.1904C>T	c.(1903-1905)cCt>cTt	p.P635L	QARS_ENST00000414533.1_Missense_Mutation_p.P624L			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	635					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CAGGCCCACAGGCTGGCCCCA	0.582000													11	23					0	0	0.001855	0	0
MYOF	26509	broad.mit.edu	37	10	95134595	95134595	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:95134595C>T	ENST00000371501.4	-	23	2348	c.2226G>A	c.(2224-2226)tcG>tcA	p.S742S	MYOF_ENST00000371502.4_Silent_p.S742S|MYOF_ENST00000359263.4_Silent_p.S742S|MYOF_ENST00000358334.5_Silent_p.S729S			Q9NZM1	MYOF_HUMAN	myoferlin	742					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGTGGCTTCCGACCTCATCC	0.483000													12	36					0	0	0.001368	0	0
WFDC6	140870	broad.mit.edu	37	20	44167999	44167999	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:44167999C>T	ENST00000600168.1	-	1	135	c.48G>A	c.(46-48)ttG>ttA	p.L16L	WFDC6_ENST00000372670.3_Silent_p.L16L|EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				GGATGTCCCCCAAAAGGATGA	0.517000													22	50					0	0	0.002780	0	0
PUS7L	83448	broad.mit.edu	37	12	44148979	44148979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:44148979G>A	ENST00000416848.2	-	2	558	c.70C>T	c.(70-72)Cat>Tat	p.H24Y	PUS7L_ENST00000551923.1_Missense_Mutation_p.H24Y|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.H24Y|PUS7L_ENST00000553166.1_Missense_Mutation_p.H24Y	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	24					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ATAGTGCCATGAAATCCAACG	0.328000													19	24					0	0	0.006122	0	0
MYO3A	53904	broad.mit.edu	37	10	26434394	26434394	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:26434394G>A	ENST00000265944.5	+	22	2602	c.2436G>A	c.(2434-2436)ctG>ctA	p.L812L	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	812	Myosin head-like.				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						AAGGTAACCTGAAATCACAAT	0.313000													11	22					0	0	0.000978	0	0
NOTUM	147111	broad.mit.edu	37	17	79913410	79913410	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:79913410G>A	ENST00000409678.3	-	9	1382	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	333						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)			ACTGCACCACGAACACAGGGC	0.701000													7	26					0	0	0.000673	0	0
POTED	317754	broad.mit.edu	37	21	14983034	14983034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:14983034G>A	ENST00000299443.5	+	1	537	c.485G>A	c.(484-486)aGg>aAg	p.R162K		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	162						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GTCATGCTCAGGGACACTGAC	0.572000													28	15					0	0	0.001951	0	0
ARID1B	57492	broad.mit.edu	37	6	157522414	157522414	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:157522414C>T	ENST00000346085.5	+	18	4687	c.4686C>T	c.(4684-4686)tcC>tcT	p.S1562S	ARID1B_ENST00000275248.4_Silent_p.S1544S|ARID1B_ENST00000367148.1_Silent_p.S1602S|ARID1B_ENST00000350026.5_Silent_p.S1549S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1549	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCAGCGCTCCCTGGAGAACC	0.622000													23	86					0	0	0.002299	0	0
MYPN	84665	broad.mit.edu	37	10	69881563	69881563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:69881563G>A	ENST00000358913.5	+	2	856	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.R123Q|MYPN_ENST00000540630.1_Missense_Mutation_p.R123Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	123	Interaction with CARP.					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						GATAACCCTCGAAGTCCCACC	0.433000													7	28					0	0	0.004482	0	0
DDX17	10521	broad.mit.edu	37	22	38889753	38889753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:38889753C>T	ENST00000396821.3	-	10	1448	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.G371E	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	371	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					ACTCTTGTCTCCATGGATACA	0.368000													24	42					0	0	0.003954	0	0
YEATS4	8089	broad.mit.edu	37	12	69764559	69764559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:69764559C>T	ENST00000247843.2	+	5	677	c.407C>T	c.(406-408)tCa>tTa	p.S136L	YEATS4_ENST00000548020.1_Missense_Mutation_p.S82L	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	136					histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			ACAGTGGTTTCAGAGTTCTAT	0.328000													16	24					0	0	0.000958	0	0
CAT	847	broad.mit.edu	37	11	34473725	34473725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:34473725C>T	ENST00000241052.4	+	4	540	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	151					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	AAATAACACCCCCATTTTCTT	0.408000													19	33					0	0	0.006122	0	0
SPATA16	83893	broad.mit.edu	37	3	172643232	172643232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:172643232G>A	ENST00000351008.3	-	7	1315	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	378					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)			TGTTGGGGAGGAAAAGATGAC	0.373000													16	56					0	0	0.001216	0	0
HELZ	9931	broad.mit.edu	37	17	65116564	65116564	+	Silent	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:65116564T>C	ENST00000358691.5	-	27	3961	c.3795A>G	c.(3793-3795)caA>caG	p.Q1265Q	HELZ_ENST00000580168.1_Silent_p.Q1266Q	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)					GATGCTGATTTTGTGGCTGGC	0.438000													23	61					0	0	0.003954	0	0
SEPT10	151011	broad.mit.edu	37	2	110321941	110321941	+	Splice_Site	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:110321941A>T	ENST00000356688.4	-	8	1344		c.e8+1		SEPT10_ENST00000334001.6_Splice_Site|SEPT10_ENST00000397714.2_Splice_Site|SEPT10_ENST00000468616.1_Splice_Site|SEPT10_ENST00000415095.1_Splice_Site|SEPT10_ENST00000397712.2_Splice_Site|SEPT10_ENST00000437928.1_Splice_Site|SEPT10_ENST00000545389.1_Splice_Site			Q9P0V9	SEP10_HUMAN	septin 10						cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						ACCCCACCCTACCTGACTGGC	0.488000													18	50					0	0	0.003330	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002866	52002866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:52002866G>A	ENST00000291707.3	-	3	968	c.913C>T	c.(913-915)Ccc>Tcc	p.P305S	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P187S	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	305	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GTGATCGTGGGGGGCGTCCCC	0.662000													16	40					0	0	0.006122	0	0
RBMS2	5939	broad.mit.edu	37	12	56965567	56965567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:56965567C>T	ENST00000262031.5	+	5	565	c.470C>T	c.(469-471)cCc>cTc	p.P157L	RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000550726.1_Missense_Mutation_p.P32L|RBMS2_ENST00000552247.2_Missense_Mutation_p.P157L	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	157	RRM 2.				RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						ATGCTGAAGCCCTTTGGCCAG	0.512000													20	33					0	0	0.000958	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38647461	38647461	+	RNA	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:38647461G>T	ENST00000494540.1	+	0	314					NR_003086.1																						TCTTGCTGATGGATTTTTTTT	0.423000													7	19					8.12818e-05	0.000168507	0.001984	1	0
DICER1	23405	broad.mit.edu	37	14	95556998	95556998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:95556998G>A	ENST00000526495.1	-	29	5897	c.5606C>T	c.(5605-5607)cCg>cTg	p.P1869L	DICER1_ENST00000556045.1_Missense_Mutation_p.P767L|DICER1_ENST00000393063.1_Missense_Mutation_p.P1869L|DICER1_ENST00000541352.1_Missense_Mutation_p.R1815W|DICER1_ENST00000527414.1_Missense_Mutation_p.P1869L|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000343455.3_Missense_Mutation_p.P1869L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1869	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCTCTCAGCCGGGCTGTAAAA	0.428000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				59	67					0	0	0.003610	0	0
FUT3	2525	broad.mit.edu	37	19	5844661	5844661	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:5844661G>A	ENST00000303225.6	-	3	824	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L	FUT3_ENST00000589620.1_Silent_p.L64L|FUT3_ENST00000589918.1_Silent_p.L64L|FUT3_ENST00000458379.2_Silent_p.L64L	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	64					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGCAGGATCAGGAGGGTGGGG	0.647000													20	31					0	0	0.001882	0	0
NPAS4	266743	broad.mit.edu	37	11	66192058	66192058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:66192058G>A	ENST00000311034.2	+	7	1873	c.1697G>A	c.(1696-1698)gGa>gAa	p.G566E		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	566					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCCCAGGAGGGATGCAGTTTT	0.597000													52	71					0	0	0.003610	0	0
CDH20	28316	broad.mit.edu	37	18	59221748	59221748	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:59221748C>T	ENST00000262717.4	+	12	2624	c.2226C>T	c.(2224-2226)ttC>ttT	p.F742F	CDH20_ENST00000536675.2_Silent_p.F742F|CDH20_ENST00000538374.1_Silent_p.F742F			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	742					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CACCGCCCTTCGACTCCCTCC	0.642000													7	6					0	0	0.003080	0	0
INTS8	55656	broad.mit.edu	37	8	95866068	95866068	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:95866068G>A	ENST00000523731.1	+	14	1810	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L	INTS8_ENST00000447247.1_Silent_p.L559L|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	559					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GTGTTATCCTGGGAATTAAAG	0.338000													197	364					0	0	0.003610	0	0
DSE	29940	broad.mit.edu	37	6	116757777	116757777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:116757777C>T	ENST00000331677.3	+	7	2590	c.2146C>T	c.(2146-2148)Cgt>Tgt	p.R716C	DSE_ENST00000359564.2_Missense_Mutation_p.R716C|DSE_ENST00000537543.1_Missense_Mutation_p.R735C|DSE_ENST00000452085.3_Missense_Mutation_p.R716C			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	716					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)		CATTGCTGATCGTCACAAAAT	0.493000													18	23					0	0	0.000958	0	0
BRINP3	339479	broad.mit.edu	37	1	190067807	190067807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:190067807G>A	ENST00000367462.3	-	8	1873	c.1642C>T	c.(1642-1644)Cat>Tat	p.H548Y	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.H446Y	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		548						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAAATCATATGGACCAGACTT	0.468000													83	63					0	0	0.003610	0	0
ADAM32	203102	broad.mit.edu	37	8	39103614	39103614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:39103614C>T	ENST00000379907.4	+	17	1958	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	ADAM32_ENST00000437682.2_Missense_Mutation_p.R512C|ADAM32_ENST00000519315.1_Missense_Mutation_p.R505C	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	611					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTGTGTAAATCGTGAATGTGT	0.343000													17	43					0	0	0.000958	0	0
BEST3	144453	broad.mit.edu	37	12	70070981	70070981	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:70070981C>T	ENST00000330891.5	-	6	919	c.693G>A	c.(691-693)ggG>ggA	p.G231G	BEST3_ENST00000488961.1_Silent_p.G69G|BEST3_ENST00000553096.1_Silent_p.G125G|BEST3_ENST00000331471.4_Silent_p.G231G|BEST3_ENST00000476098.1_Silent_p.G69G	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	231						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCAGCGGAATCCCAACCCAGT	0.463000													9	12					0	0	0.000673	0	0
CSMD2	114784	broad.mit.edu	37	1	33999476	33999476	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:33999476T>A	ENST00000373381.4	-	63	10087	c.9911A>T	c.(9910-9912)aAa>aTa	p.K3304I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3160						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)				CAGGTAGCCTTTTTGACAACG	0.572000													19	43					0	0	0.001216	0	0
FSIP1	161835	broad.mit.edu	37	15	39910330	39910330	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:39910330C>T	ENST00000350221.3	-	11	1514	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	435										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)		GTGTTACGTCCTCAATGTCTT	0.383000													38	52					0	0	0.004878	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280743	32280743	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:32280743G>A	ENST00000360482.2	-	2	321	c.192C>T	c.(190-192)gcC>gcT	p.A64A	SPOCD1_ENST00000373648.2_Silent_p.A64A|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Silent_p.A64A	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	64					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CACCTCGAAGGGCCTCCTTCC	0.677000													8	26					0	0	0.003080	0	0
GPI	2821	broad.mit.edu	37	19	34857254	34857254	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:34857254A>G	ENST00000415930.3	+	3	414	c.244A>G	c.(244-246)Acc>Gcc	p.T82A	GPI_ENST00000356487.5_Missense_Mutation_p.T43A|GPI_ENST00000586425.1_Missense_Mutation_p.T43A	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	43					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CTGCAGCTTGACCCTCAACAC	0.552000													24	74					0	0	0.005443	0	0
OR6C4	341418	broad.mit.edu	37	12	55945033	55945033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:55945033G>A	ENST00000394256.2	+	1	51	c.23G>A	c.(22-24)gGt>gAt	p.G8D	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ACCATGTTTGGTGAGTTTATT	0.373000													16	24					0	0	0.004990	0	0
NTRK1	4914	broad.mit.edu	37	1	156844394	156844394	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:156844394G>A	ENST00000368196.3	+	9	1329	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E	NTRK1_ENST00000392302.2_Silent_p.E373E|NTRK1_ENST00000358660.3_Silent_p.E403E|NTRK1_ENST00000524377.1_Silent_p.E409E	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	409					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ACCCGGTGGAGAAGAAGGACG	0.547000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			17	16					0	0	0.001523	0	0
TNFRSF8	943	broad.mit.edu	37	1	12183377	12183377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:12183377C>T	ENST00000263932.2	+	9	1205	c.983C>T	c.(982-984)cCc>cTc	p.P328L	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P217L	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	328					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCGCCACCCCTGGGGACC	0.622000													7	7					0	0	0.001984	0	0
OR6X1	390260	broad.mit.edu	37	11	123624513	123624513	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:123624513G>A	ENST00000327930.2	-	1	740	c.714C>T	c.(712-714)acC>acT	p.T238T		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		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;0.0279)		GCGAGGCACAGGTAGAGAAAG	0.468000													4	19					0	0	0.000248	0	0
TNR	7143	broad.mit.edu	37	1	175332919	175332919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:175332919C>T	ENST00000367674.1	-	13	3340	c.2632G>A	c.(2632-2634)Gac>Aac	p.D878N	TNR_ENST00000263525.2_Missense_Mutation_p.D878N	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	878	Fibronectin type-III 7.				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)					ATCACTGAGTCCTTGGTCACA	0.433000													24	85					0	0	0.005443	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363337	42363337	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:42363337G>A	ENST00000290472.3	-	17	1954	c.1860C>T	c.(1858-1860)gaC>gaT	p.D620D		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	620	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGGTGGAGAAGTCTTTGTGGC	0.637000													9	37					0	0	0.000673	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567771	45567771	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:45567771G>A	ENST00000256692.5	-	0	914					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCAAATATAAGGAATTCTTAT	0.328000													9	53					0	0	0.000673	0	0
ABCA12	26154	broad.mit.edu	37	2	215815627	215815627	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:215815627G>C	ENST00000272895.7	-	45	7047	c.6828C>G	c.(6826-6828)atC>atG	p.I2276M	ABCA12_ENST00000389661.4_Missense_Mutation_p.I1958M|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2276	ABC transporter 2.				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)		TCCCAATGCTGATGTTGTTTA	0.368000													21	35					0	0	0.002299	0	0
KCNIP1	30820	broad.mit.edu	37	5	170148905	170148905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:170148905G>A	ENST00000328939.4	+	4	862	c.325G>A	c.(325-327)Gag>Aag	p.E109K	KCNIP1_ENST00000377360.4_Missense_Mutation_p.E118K|KCNIP1_ENST00000411494.1_Missense_Mutation_p.E120K|KCNIP1_ENST00000390656.4_Missense_Mutation_p.E109K|KCNIP1_ENST00000520740.1_Missense_Mutation_p.E81K|KCNIP1_ENST00000434108.1_Missense_Mutation_p.E134K	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	120	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTGAAGTTCGAGGTACGCTC	0.547000													8	93					0	0	0.004482	0	0
SYNE1	23345	broad.mit.edu	37	6	152763308	152763308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:152763308C>T	ENST00000367255.5	-	31	4511	c.3910G>A	c.(3910-3912)Ggg>Agg	p.G1304R	SYNE1_ENST00000367253.4_Missense_Mutation_p.G1304R|SYNE1_ENST00000367248.3_Missense_Mutation_p.G1294R|SYNE1_ENST00000448038.1_Missense_Mutation_p.G1311R|SYNE1_ENST00000423061.1_Missense_Mutation_p.G1311R|SYNE1_ENST00000413186.2_Missense_Mutation_p.G1304R|SYNE1_ENST00000341594.5_Missense_Mutation_p.G1370R|SYNE1_ENST00000265368.4_Missense_Mutation_p.G1304R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1304					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)		GGCAGCCCCCCTTCTCCCTGC	0.592000										HNSCC(10;0.0054)			33	29					0	0	0.002836	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370509	38370509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:38370509G>A	ENST00000322350.5	+	6	1003	c.657G>A	c.(655-657)atG>atA	p.M219I	EGFLAM_ENST00000354891.3_Missense_Mutation_p.M219I	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	219	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGAGGGCAATGAATTCCCATG	0.562000													5	31					0	0	0.001984	0	0
ROR2	4920	broad.mit.edu	37	9	94487000	94487000	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:94487000G>A	ENST00000375708.3	-	9	1974	c.1776C>T	c.(1774-1776)ttC>ttT	p.F592F	ROR2_ENST00000375715.1_Silent_p.F452F|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	592	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.F592F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAAGGTGCACGAAGTCGGGGG	0.637000													22	8					0	0	0.001523	0	0
LCT	3938	broad.mit.edu	37	2	136567271	136567271	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:136567271G>A	ENST00000264162.2	-	8	2656	c.2646C>T	c.(2644-2646)gtC>gtT	p.V882V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	882	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)		TTTCCCAAACGACTTTAGCCT	0.507000													64	83					0	0	0.003610	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172439	207172439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:207172439G>A	ENST00000374423.3	+	5	3573	c.3187G>A	c.(3187-3189)Gaa>Aaa	p.E1063K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1063							nucleic acid binding|zinc ion binding	p.E1063*(2)|p.E1063K(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTTTTGAAGGAAAAACATGT	0.323000													25	24					0	0	0.001061	0	0
KANK4	163782	broad.mit.edu	37	1	62739945	62739945	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:62739945G>A	ENST00000371153.4	-	3	1209	c.831C>T	c.(829-831)ttC>ttT	p.F277F	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	277	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGCCAGGGGTGAACAACACCT	0.542000													7	18					0	0	0.004482	0	0
GTF2H1	2965	broad.mit.edu	37	11	18357471	18357471	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:18357471A>G	ENST00000265963.4	+	3	485	c.325A>G	c.(325-327)Aaa>Gaa	p.K109E	GTF2H1_ENST00000453096.2_Missense_Mutation_p.K109E|GTF2H1_ENST00000534641.1_Intron	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	109	BSD 1.				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|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GAAAGCAAATAAAGAACTGGA	0.408000								Nucleotide excision repair (NER)					7	29					0	0	0.003080	0	0
C8B	732	broad.mit.edu	37	1	57422471	57422471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:57422471C>T	ENST00000543257.1	-	4	772	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	C8B_ENST00000535057.1_Missense_Mutation_p.R59Q|C8B_ENST00000371237.4_Missense_Mutation_p.R121Q	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	121	TSP type-1 1.				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						GCCTTCACATCGCACTTGACT	0.483000													103	193					0	0	0.003610	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904392	73904392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:73904392C>T	ENST00000342056.2	+	15	2509	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L	KCNQ5_ENST00000403813.2_Missense_Mutation_p.S676L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S695L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S575L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.S685L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S686L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S685L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	685					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCCAACATCTCGAGAGGCCTG	0.488000													53	73					0	0	0.003610	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060386	144060386	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:144060386A>T	ENST00000056217.5	+	2	798	c.624A>T	c.(622-624)gaA>gaT	p.E208D		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	208					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GGCAGGGGGAAGAGCTGCCAC	0.547000													60	362					0	0	0.003610	0	0
MYH15	22989	broad.mit.edu	37	3	108212016	108212016	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:108212016G>A	ENST00000273353.3	-	9	836	c.780C>T	c.(778-780)ttC>ttT	p.F260F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	260	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCATCCTGATGAATTTGCCCT	0.408000													19	34					0	0	0.002299	0	0
OR2L2	26246	broad.mit.edu	37	1	248202403	248202403	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:248202403C>T	ENST00000366479.2	+	1	930	c.834C>T	c.(832-834)acC>acT	p.T278T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTTCTACACCATCCTCACCC	0.473000													27	50					0	0	0.001271	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123120	12123120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:12123120G>A	ENST00000379388.2	+	4	3424	c.3092G>A	c.(3091-3093)aGg>aAg	p.R1031K		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1031					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATAAGAAAAAGGAGGAAAATG	0.498000													44	78					0	0	0.003214	0	0
GPR179	440435	broad.mit.edu	37	17	36484369	36484369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:36484369C>T	ENST00000342292.4	-	11	5103	c.5083G>A	c.(5083-5085)Gaa>Aaa	p.E1695K	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1695						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GTCAAGTTTTCCTCCACATCC	0.552000													32	34					0	0	0.002445	0	0
PLOD1	5351	broad.mit.edu	37	1	12034862	12034862	+	Silent	SNP	C	C	T	rs140741046		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:12034862C>T	ENST00000196061.4	+	19	2208	c.2181C>T	c.(2179-2181)ccC>ccT	p.P727P	PLOD1_ENST00000376369.3_Silent_p.P774P	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	727	Fe2OG dioxygenase.				epidermis development|hydroxylysine biosynthetic process|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 homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCGTCGATCCCTAATTGGCCA	0.632000													27	19					0	0	0.002445	0	0
TCP11	6954	broad.mit.edu	37	6	35086086	35086086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:35086086G>A	ENST00000311875.5	-	10	1928	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	TCP11_ENST00000373974.4_Missense_Mutation_p.S458F|TCP11_ENST00000244645.3_Missense_Mutation_p.S429F|TCP11_ENST00000512012.1_Missense_Mutation_p.S491F|TCP11_ENST00000418521.2_Missense_Mutation_p.S428F|TCP11_ENST00000412155.2_Missense_Mutation_p.S453F|TCP11_ENST00000373979.2_Missense_Mutation_p.S429F|TCP11_ENST00000444780.2_Missense_Mutation_p.S499F			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	491					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CTGGGCTGGGGAAATGAGGGT	0.512000													31	132					0	0	0.004289	0	0
WDR48	57599	broad.mit.edu	37	3	39133154	39133154	+	Silent	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:39133154C>A	ENST00000302313.5	+	17	1735	c.1707C>A	c.(1705-1707)ctC>ctA	p.L569L	WDR48_ENST00000418020.1_Silent_p.L11L|WDR48_ENST00000396258.3_Silent_p.L487L|WDR48_ENST00000544962.1_Silent_p.L294L|WDR48_ENST00000466405.1_3'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	569					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTTTCTACCTCCAACCTCATG	0.284000													9	46					7.48243e-07	1.55665e-06	0.000443	1	0
RNF183	138065	broad.mit.edu	37	9	116060012	116060012	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:116060012C>T	ENST00000478815.1	-	1	2033	c.453G>A	c.(451-453)ttG>ttA	p.L151L	RNF183_ENST00000416588.2_Silent_p.L151L|RNF183_ENST00000297894.5_Silent_p.L151L|RNF183_ENST00000441031.3_Silent_p.L151L			Q96D59	RN183_HUMAN	ring finger protein 183	151						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						AACACTCCCTCAAAGAGTGGT	0.602000													26	20					0	0	0.001512	0	0
TRAV18	28665	broad.mit.edu	37	14	22471635	22471635	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:22471635G>A	ENST00000390446.3	+	0	163																											AAGGACCAGTGGAGACTCGGT	0.453000													15	65					0	0	0.004990	0	0
FUT1	2523	broad.mit.edu	37	19	49254333	49254333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:49254333G>A	ENST00000310160.3	-	4	1180	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	69					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CTGGGGACAGGAAGAGGAGGC	0.637000													11	26					0	0	0.000673	0	0
CLCN7	1186	broad.mit.edu	37	16	1500599	1500599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:1500599C>T	ENST00000382745.4	-	17	2121	c.1516G>A	c.(1516-1518)Ggg>Agg	p.G506R	CLCN7_ENST00000262318.8_Missense_Mutation_p.G482R|CLCN7_ENST00000448525.1_Missense_Mutation_p.G482R	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	506						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				ACCGTGAGCCCGTAGGTCCAG	0.667000													10	18					0	0	0.000673	0	0
SERPINB1	1992	broad.mit.edu	37	6	2838904	2838904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:2838904G>A	ENST00000380739.5	-	3	387	c.185C>T	c.(184-186)aCg>aTg	p.T62M	SERPINB1_ENST00000537185.1_De_novo_Start_InFrame|SERPINB1_ENST00000476896.1_5'UTR			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	62					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CTCTTCAACCGTGTTGAAATG	0.328000													17	61					0	0	0.001216	0	0
VPS13D	55187	broad.mit.edu	37	1	12374283	12374283	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:12374283G>A	ENST00000358136.3	+	30	7177	c.7047G>A	c.(7045-7047)caG>caA	p.Q2349Q	VPS13D_ENST00000356315.4_Silent_p.Q2349Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2349					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGCTGGGCAGAAGACCAGCC	0.458000													31	11					0	0	0.002445	0	0
ETHE1	23474	broad.mit.edu	37	19	44015617	44015617	+	Silent	SNP	A	A	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:44015617A>C	ENST00000600651.1	-	4	500	c.477T>G	c.(475-477)cgT>cgG	p.R159R	ETHE1_ENST00000292147.2_Silent_p.R159R			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	159						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GCCCACACCCACGGATCAACA	0.547000													7	52					0	0	0.000443	0	0
ABTB2	25841	broad.mit.edu	37	11	34194758	34194758	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:34194758G>A	ENST00000435224.2	-	4	1765	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Silent_p.I261I	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	261							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGCCTGCCGGATGTCGCCGC	0.672000													19	20					0	0	0.001882	0	0
DST	667	broad.mit.edu	37	6	56471298	56471298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:56471298G>A	ENST00000370754.5	-	39	8028	c.8029C>T	c.(8029-8031)Cct>Tct	p.P2677S	DST_ENST00000446842.2_Missense_Mutation_p.P2173S|DST_ENST00000361203.3_Missense_Mutation_p.P2499S|DST_ENST00000370769.4_Missense_Mutation_p.P2499S|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.P2499S|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2499					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)			GAGCCAACAGGATTTAAATGT	0.378000													6	11					0	0	0.001168	0	0
LRP2	4036	broad.mit.edu	37	2	170068590	170068590	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:170068590C>T	ENST00000263816.3	-	37	6453	c.6168G>A	c.(6166-6168)cgG>cgA	p.R2056R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2056	EGF-like 8.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GAGAGCAGGACCGATTATCAG	0.458000													9	70					0	0	0.000443	0	0
ZPLD1	131368	broad.mit.edu	37	3	102189276	102189276	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:102189276G>A	ENST00000306176.1	+	9	1120	c.1020G>A	c.(1018-1020)agG>agA	p.R340R	ZPLD1_ENST00000491959.1_Silent_p.R324R|ZPLD1_ENST00000466937.1_Silent_p.R324R	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	324						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTGGGAGGAGGACGACTTGGA	0.507000													16	50					0	0	0.006122	0	0
CERCAM	51148	broad.mit.edu	37	9	131186786	131186786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:131186786C>T	ENST00000372842.1	+	6	3569	c.425C>T	c.(424-426)tCc>tTc	p.S142F	CERCAM_ENST00000372838.4_Missense_Mutation_p.S220F			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	220					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TTCCTTGCATCCCTGCGGGCT	0.622000													29	16					0	0	0.005443	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433294	140433294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140433294G>A	ENST00000306549.3	+	1	2316	c.2239G>A	c.(2239-2241)Gga>Aga	p.G747R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		747					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)			ACAAGGCAATGGATCCTTATC	0.388000													9	79					0	0	0.000443	0	0
KMT2D	8085	broad.mit.edu	37	12	49434611	49434611	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:49434611G>A	ENST00000301067.7	-	31	6941	c.6942C>T	c.(6940-6942)acC>acT	p.T2314T		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CACCCAGGTGGGTGCCTGAGG	0.612000													9	26					0	0	0.000443	0	0
HHATL	57467	broad.mit.edu	37	3	42740220	42740220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:42740220C>T	ENST00000441594.1	-	5	724	c.463G>A	c.(463-465)Gac>Aac	p.D155N	HHATL_ENST00000310417.5_Missense_Mutation_p.D155N	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	155					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ATTAGGGGGTCCATCTTGAAG	0.577000													47	105					0	0	0.003610	0	0
FAM131B	9715	broad.mit.edu	37	7	143053712	143053712	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:143053712C>T	ENST00000409408.1	-	6	2638	c.930G>A	c.(928-930)cgG>cgA	p.R310R	FAM131B_ENST00000409222.3_Silent_p.R310R|FAM131B_ENST00000409346.1_Silent_p.R310R|FAM131B_ENST00000443739.2_Silent_p.R338R|FAM131B_ENST00000409578.1_Silent_p.R326R			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	310										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CAGACACCTTCCGGCTGAGAG	0.587000													54	114					0	0	0.003610	0	0
MROH7	374977	broad.mit.edu	37	1	55139713	55139713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:55139713G>A	ENST00000414150.2	+	10	2103	c.1825G>A	c.(1825-1827)Ggg>Agg	p.G609R	MROH7_ENST00000339553.5_Missense_Mutation_p.G609R|MROH7_ENST00000545244.1_Missense_Mutation_p.G177R|MROH7_ENST00000421030.2_Missense_Mutation_p.G609R|MROH7_ENST00000409996.1_Missense_Mutation_p.G177R|MROH7_ENST00000395690.2_Missense_Mutation_p.G609R|MROH7_ENST00000454855.2_Missense_Mutation_p.G127R					maestro heat-like repeat family member 7																		CCCGGCGCTGGGGCTTCTGCT	0.493000													44	111					0	0	0.003610	0	0
GDF15	9518	broad.mit.edu	37	19	18499399	18499399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:18499399G>A	ENST00000595973.1	+	3	1132	c.581G>A	c.(580-582)aGa>aAa	p.R194K	GDF15_ENST00000252809.3_Missense_Mutation_p.R194K			Q99988	GDF15_HUMAN	growth differentiation factor 15	194					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						GGGCGCCGCAGAGCGCGTGCG	0.731000											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	11					0	0	0.000248	0	0
SAG	6295	broad.mit.edu	37	2	234237135	234237135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:234237135G>A	ENST00000409110.1	+	8	754	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	SAG_ENST00000449594.2_Missense_Mutation_p.R41Q	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	175					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AGCTCCGTGCGATTACTGATC	0.592000													22	80					0	0	0.005443	0	0
VPS28	51160	broad.mit.edu	37	8	145652322	145652322	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:145652322G>T	ENST00000377348.2	-	2	96	c.7C>A	c.(7-9)Cat>Aat	p.H3N	VPS28_ENST00000529182.1_Missense_Mutation_p.H3N|VPS28_ENST00000526734.1_5'UTR|VPS28_ENST00000526054.1_Missense_Mutation_p.H3N|VPS28_ENST00000292510.4_Missense_Mutation_p.H3N	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	3					cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGGATCCCATGAAACATCCTC	0.637000													4	11					3.59834e-05	7.47286e-05	0.001168	1	0
TAS2R38	5726	broad.mit.edu	37	7	141673402	141673402	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:141673402A>T	ENST00000547270.1	-	1	171	c.88T>A	c.(88-90)Ttt>Att	p.F30I		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	30					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TTGGTCAGAAACCCCACTGCA	0.468000													20	44					0	0	0.001216	0	0
EIF2B2	8892	broad.mit.edu	37	14	75469738	75469738	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:75469738C>T	ENST00000266126.5	+	1	125	c.45C>T	c.(43-45)atC>atT	p.I15I		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	15					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CAGAGAGGATCGAGAGCTTCG	0.627000													11	54					0	0	0.002450	0	0
RBM26	64062	broad.mit.edu	37	13	79908520	79908520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:79908520G>A	ENST00000438737.2	-	20	3219	c.2779C>T	c.(2779-2781)Cat>Tat	p.H927Y	RBM26_ENST00000267229.7_Missense_Mutation_p.H900Y|RBM26_ENST00000438724.1_Missense_Mutation_p.H903Y			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	927	RRM 2.				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)		ATTACTGCATGAAGTGAGGAA	0.244000													9	49					0	0	0.000978	0	0
NLRP10	338322	broad.mit.edu	37	11	7981857	7981857	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:7981857C>T	ENST00000328600.2	-	2	1463	c.1302G>A	c.(1300-1302)agG>agA	p.R434R		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	434	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)		AATTATGTTTCCTGAGCTCAG	0.522000													54	73					0	0	0.003610	0	0
DEFA5	1670	broad.mit.edu	37	8	6914111	6914111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:6914111C>T	ENST00000330590.2	-	1	145	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	37					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGGTTGTCTTCCCCAGACTGC	0.527000													18	56					0	0	0.001216	0	0
PSG2	5670	broad.mit.edu	37	19	43579633	43579633	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:43579633C>T	ENST00000406487.1	-	3	680	c.582G>A	c.(580-582)caG>caA	p.Q194Q		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	194	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTTCGGACAGCTGAAACCTAT	0.493000													91	157					0	0	0.003610	0	0
JAK3	3718	broad.mit.edu	37	19	17937601	17937601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:17937601G>A	ENST00000458235.1	-	24	3425	c.3326C>T	c.(3325-3327)gCc>gTc	p.A1109V	JAK3_ENST00000527670.1_Missense_Mutation_p.A1109V	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	1109	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGCAGTGAAGGCATGAGTCTC	0.622000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								32	51					0	0	0.002836	0	0
SNX10	29887	broad.mit.edu	37	7	26404214	26404214	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:26404214C>T	ENST00000338523.4	+	4	358	c.171C>T	c.(169-171)ttC>ttT	p.F57F	SNX10_ENST00000409367.1_Silent_p.F17F|SNX10_ENST00000446848.2_Silent_p.F83F|SNX10_ENST00000409838.1_Intron|SNX10_ENST00000396376.1_Silent_p.F57F	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	57	PX.				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						ATAGAGAATTCGTGTGGCTGA	0.358000													22	29					0	0	0.004656	0	0
ANKH	56172	broad.mit.edu	37	5	14758692	14758692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:14758692C>T	ENST00000284268.6	-	3	659	c.329G>A	c.(328-330)gGa>gAa	p.G110E		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	110					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						AATGTAGTATCCTAAATCACT	0.398000													5	69					0	0	0.001168	0	0
SLC10A6	345274	broad.mit.edu	37	4	87746604	87746604	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:87746604G>A	ENST00000273905.6	-	5	1035	c.888C>T	c.(886-888)ttC>ttT	p.F296F	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	296						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTATCAGCTGGAAGAGTCCAT	0.448000													25	24					0	0	0.003954	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79746313	79746313	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:79746313T>A	ENST00000338008.5	+	9	3470	c.3290T>A	c.(3289-3291)aTt>aAt	p.I1097N	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.I1097N|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.I1097N	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1097					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CAGGCAGAAATTATTATTCTA	0.323000													16	79					0	0	0.001216	0	0
MIR205HG	642587	broad.mit.edu	37	1	209605512	209605512	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:209605512C>T	ENST00000384891.1	+	0	35					NR_029622.1																						CTTCTCTTGTCCTTCATTCCA	0.532000													14	70					0	0	0.004990	0	0
PIWIL1	9271	broad.mit.edu	37	12	130827153	130827153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:130827153G>A	ENST00000245255.3	+	2	289	c.17G>A	c.(16-18)cGa>cAa	p.R6Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	6					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GGGAGAGCCCGAGCCAGAGCC	0.488000													22	15					0	0	0.003330	0	0
DNAH5	1767	broad.mit.edu	37	5	13901560	13901560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13901560C>T	ENST00000265104.4	-	14	1957	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	618	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R618Q(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)					AGGCTGGTTTCGAGCCAGAGG	0.473000									Kartagener syndrome				15	20					0	0	0.003163	0	0
FAF1	11124	broad.mit.edu	37	1	51048346	51048346	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:51048346A>T	ENST00000396153.2	-	12	1508	c.1057T>A	c.(1057-1059)Ttt>Att	p.F353I	FAF1_ENST00000545823.1_Missense_Mutation_p.F111I|FAF1_ENST00000371778.4_Missense_Mutation_p.F353I|FAF1_ENST00000472808.1_5'UTR	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	353					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		GAGCCAATAAAAAATACAGGA	0.343000													55	85					0	0	0.003610	0	0
HNF4G	3174	broad.mit.edu	37	8	76465357	76465357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:76465357G>A	ENST00000396423.2	+	5	664	c.540G>A	c.(538-540)atG>atA	p.M180I	HNF4G_ENST00000354370.1_Missense_Mutation_p.M143I	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	143					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTGAATCTATGAAACAGCAGC	0.368000													5	21					0	0	0.000602	0	0
TRMT1	55621	broad.mit.edu	37	19	13226254	13226254	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:13226254C>T	ENST00000592062.1	-	6	1050	c.480G>A	c.(478-480)ctG>ctA	p.L160L	TRMT1_ENST00000357720.4_Silent_p.L160L|TRMT1_ENST00000437766.1_Silent_p.L160L|TRMT1_ENST00000221504.8_Silent_p.L160L			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	160							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CTGAAGCTGCCAGGCCTTCCA	0.582000													8	19					0	0	0.003080	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197605	39197605	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:39197605G>A	ENST00000306271.4	-	1	108	c.45C>T	c.(43-45)tcC>tcT	p.S15S		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	15			PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TCCCACTGGTGGAGCAGCTGG	0.592000													37	32					0	0	0.004878	0	0
C16orf58	64755	broad.mit.edu	37	16	31508266	31508266	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:31508266G>A	ENST00000327237.2	-	6	645	c.606C>T	c.(604-606)atC>atT	p.I202I	C16orf58_ENST00000430477.2_Silent_p.I60I|C16orf58_ENST00000567994.1_Silent_p.I157I|C16orf58_ENST00000570164.1_Silent_p.I202I			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	202						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						CAACACTCACGATGCACTGGG	0.617000													9	16					0	0	0.001368	0	0
PSG9	5678	broad.mit.edu	37	19	43773533	43773533	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:43773533C>T	ENST00000244293.7	-	1	117	c.51G>A	c.(49-51)ggG>ggA	p.G17G	PSG9_ENST00000291752.5_Silent_p.G17G|PSG9_ENST00000593948.1_Silent_p.G17G|PSG9_ENST00000270077.3_Silent_p.G17G|PSG9_ENST00000443718.3_Silent_p.G17G|PSG9_ENST00000418820.2_Silent_p.G17G|PSG9_ENST00000596730.1_Silent_p.G17G			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	17					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)				TGAGCAGGAGCCCCTTCCAGG	0.602000													33	63					0	0	0.002522	0	0
LGR6	59352	broad.mit.edu	37	1	202287604	202287604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:202287604G>A	ENST00000367278.3	+	18	2262	c.2173G>A	c.(2173-2175)Ggt>Agt	p.G725S	LGR6_ENST00000255432.7_Missense_Mutation_p.G673S|LGR6_ENST00000439764.2_Missense_Mutation_p.G586S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	725			G -> C (in a colorectal cancer sample; somatic mutation).			integral to membrane|plasma membrane	protein-hormone receptor activity	p.G725C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCCACCTGAGGGTCAGCCAGC	0.657000													18	11					0	0	0.001523	0	0
IFIT2	3433	broad.mit.edu	37	10	91065834	91065834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:91065834C>T	ENST00000371826.3	+	2	290	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	41					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AGTATTTTACCGGACTGAGTT	0.453000													10	33					0	0	0.000673	0	0
OR52K1	390036	broad.mit.edu	37	11	4510953	4510953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4510953C>T	ENST00000307632.3	+	1	845	c.823C>T	c.(823-825)Cac>Tac	p.H275Y		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCCTCGTGTCCACATACTCCT	0.493000													48	56					0	0	0.003610	0	0
MYT1	4661	broad.mit.edu	37	20	62839221	62839221	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:62839221C>T	ENST00000536311.1	+	7	1036	c.672C>T	c.(670-672)gtC>gtT	p.V224V	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.V224V			Q01538	MYT1_HUMAN	myelin transcription factor 1	224	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCGAGGAGGTCGTCGAAGTCA	0.622000													12	38					0	0	0.000978	0	0
OTOF	9381	broad.mit.edu	37	2	26696884	26696884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:26696884G>A	ENST00000272371.2	-	27	3509	c.3383C>T	c.(3382-3384)cCc>cTc	p.P1128L	OTOF_ENST00000338581.6_Missense_Mutation_p.P381L|OTOF_ENST00000403946.3_Missense_Mutation_p.P1128L|OTOF_ENST00000402415.3_Missense_Mutation_p.P438L|OTOF_ENST00000339598.3_Missense_Mutation_p.P381L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1128					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)					GCTGAGCACGGGCCGGATGCC	0.642000													22	27					0	0	0.004656	0	0
NDN	4692	broad.mit.edu	37	15	23931540	23931540	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:23931540G>A	ENST00000331837.4	-	1	910	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	275	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.I275I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGAACTCCATGATTTGCATCT	0.582000									Prader-Willi syndrome				17	44					0	0	0.004990	0	0
RFFL	117584	broad.mit.edu	37	17	33353483	33353483	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:33353483G>A	ENST00000315249.7	-	2	312	c.90C>T	c.(88-90)tcC>tcT	p.S30S	RFFL_ENST00000413582.2_Silent_p.S30S|RFFL_ENST00000394597.2_Silent_p.S30S|RFFL_ENST00000378516.2_Silent_p.S30S|RFFL_ENST00000447669.2_Silent_p.S30S|RFFL_ENST00000268850.7_Silent_p.S30S|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000584655.1_Silent_p.S30S|RFFL_ENST00000415395.2_Silent_p.S30S			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	30					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACCCAGGGTTGGAATAGGCCT	0.582000													18	14					0	0	0.006122	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966960	39966960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:39966960C>T	ENST00000336649.4	+	1	203	c.203C>T	c.(202-204)cCc>cTc	p.P68L	CACNA1I_ENST00000407673.1_Missense_Mutation_p.P68L|CACNA1I_ENST00000404898.1_Missense_Mutation_p.P68L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.P68L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.P68L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.P68L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	68					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACCACCAGCCCCCGGAACTGG	0.642000													36	62					0	0	0.001287	0	0
MON2	23041	broad.mit.edu	37	12	62965244	62965244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:62965244C>T	ENST00000393630.3	+	31	4790	c.4399C>T	c.(4399-4401)Ctc>Ttc	p.L1467F	MON2_ENST00000280379.6_Missense_Mutation_p.L1467F|MON2_ENST00000546600.1_Missense_Mutation_p.L1466F|MON2_ENST00000393632.2_Missense_Mutation_p.L1466F|MON2_ENST00000552738.1_Missense_Mutation_p.L1437F|MON2_ENST00000393629.2_Missense_Mutation_p.L1460F	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1467					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGTATCCTCTCTCCTCAGAGT	0.423000													24	113					0	0	0.003330	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981641	61981641	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:61981641G>A	ENST00000370263.4	-	5	1343	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	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)	374					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)	TCTTATGCATGGACTCGATGA	0.672000													11	11					0	0	0.001368	0	0
FSHR	2492	broad.mit.edu	37	2	49190880	49190880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:49190880C>T	ENST00000406846.2	-	10	1199	c.1080G>A	c.(1078-1080)atG>atA	p.M360I	FSHR_ENST00000541117.1_Missense_Mutation_p.M96I|FSHR_ENST00000304421.4_Missense_Mutation_p.M334I|FSHR_ENST00000346173.3_Missense_Mutation_p.M298I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	360					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGTTGTACCCCATGATATCTT	0.448000									Gonadal Dysgenesis, 46 XX				14	56					0	0	0.002450	0	0
DNAH5	1767	broad.mit.edu	37	5	13719066	13719066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13719066G>A	ENST00000265104.4	-	72	12528	c.12424C>T	c.(12424-12426)Ctc>Ttc	p.L4142F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4142	AAA 6 (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)					ATCTGAAGGAGTGTAATGGGA	0.468000									Kartagener syndrome				9	68					0	0	0.000443	0	0
NNT	23530	broad.mit.edu	37	5	43650655	43650655	+	Silent	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:43650655T>A	ENST00000264663.5	+	12	1904	c.1683T>A	c.(1681-1683)gcT>gcA	p.A561A	NNT_ENST00000344920.4_Silent_p.A561A|NNT_ENST00000512996.2_Silent_p.A430A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	561					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GCCTTGCTGCTCTTGCTGCAT	0.433000													20	26					0	0	0.003330	0	0
SERPINA5	5104	broad.mit.edu	37	14	95056491	95056491	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:95056491C>G	ENST00000329597.7	+	4	943	c.733C>G	c.(733-735)Ctc>Gtc	p.L245V	SERPINA5_ENST00000554866.1_Missense_Mutation_p.L245V|SERPINA5_ENST00000554276.1_Missense_Mutation_p.L245V|SERPINA5_ENST00000553780.1_Missense_Mutation_p.L245V	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	245					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GTATCACTACCTCCTGGACCG	0.572000													8	31					0	0	0.003080	0	0
CHL1	10752	broad.mit.edu	37	3	423911	423911	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:423911G>A	ENST00000256509.2	+	17	2568	c.1926G>A	c.(1924-1926)agG>agA	p.R642R	CHL1_ENST00000397491.2_Silent_p.R626R|CHL1-AS1_ENST00000417612.1_RNA	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	626	Fibronectin type-III 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)		GACAGAACAGGAGTGTTCGGC	0.408000													14	32					0	0	0.004990	0	0
PCDH9	5101	broad.mit.edu	37	13	66879139	66879139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:66879139C>T	ENST00000544246.1	-	5	4053	c.3362G>A	c.(3361-3363)gGa>gAa	p.G1121E	PCDH9_ENST00000377865.2_Missense_Mutation_p.G1121E|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1087E|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1087E|PCDH9-AS1_ENST00000430861.1_RNA	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1121					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCAGCTAATCCTCGGGGACC	0.428000													6	0					0	0	0.001168	0	0
EMR1	2015	broad.mit.edu	37	19	6924760	6924760	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:6924760C>T	ENST00000312053.4	+	15	1900	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	EMR1_ENST00000381407.5_Silent_p.I480I|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000450315.3_Silent_p.I444I|EMR1_ENST00000381404.4_Silent_p.I569I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	621					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCTTGGCCATCGCCACCTTTC	0.522000													19	42					0	0	0.001216	0	0
SLC6A11	6538	broad.mit.edu	37	3	10970918	10970918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:10970918G>A	ENST00000254488.2	+	10	1330	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	422					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			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)		GGTGACCGCCGTGGTGGACAT	0.557000													71	136					0	0	0.003610	0	0
RCBTB2	1102	broad.mit.edu	37	13	49085947	49085947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:49085947G>A	ENST00000344532.3	-	9	1165	c.742C>T	c.(742-744)Cct>Tct	p.P248S	RCBTB2_ENST00000544492.1_Silent_p.P21P|RCBTB2_ENST00000544904.1_Missense_Mutation_p.P224S|RCBTB2_ENST00000430805.2_Missense_Mutation_p.P253S	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	248							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ACTCTGCAAGGGGTTGGCTGG	0.512000													17	24					0	0	0.006122	0	0
RPL14	9045	broad.mit.edu	37	3	40503610	40503610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:40503610C>T	ENST00000396203.2	+	6	667	c.535C>T	c.(535-537)Cct>Tct	p.P179S	RPL14_ENST00000416518.1_3'UTR|RPL14_ENST00000338970.6_Missense_Mutation_p.P179S	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	179	4 X 5 AA tandem repeats of Q-K-A-[PAS]-X.				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCAGAAGGTTCCTGCCCAGAA	0.552000													5	15					0	0	0.000602	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242058	60242058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:60242058C>T	ENST00000269499.5	+	13	3162	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S594F	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	915					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CCACCAGCTTCCTACCCCTTA	0.592000													4	48					0	0	0.000602	0	0
MLH3	27030	broad.mit.edu	37	14	75485552	75485552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:75485552G>A	ENST00000355774.2	-	12	4437	c.4222C>T	c.(4222-4224)Cac>Tac	p.H1408Y	MLH3_ENST00000380968.2_Missense_Mutation_p.H346Y|MLH3_ENST00000238662.7_Missense_Mutation_p.H1384Y|MLH3_ENST00000556740.1_Missense_Mutation_p.H1408Y|MLH3_ENST00000556257.1_Missense_Mutation_p.H1230Y	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1408					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGTTCCAAGTGGTCTATGTCA	0.453000								Mismatch excision repair (MMR)					26	75					0	0	0.002445	0	0
DPF3	8110	broad.mit.edu	37	14	73190413	73190413	+	Silent	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:73190413A>G	ENST00000541685.1	-	5	465	c.453T>C	c.(451-453)aaT>aaC	p.N151N	DPF3_ENST00000546183.1_Silent_p.N161N|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Silent_p.N151N	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	151					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTCTTCTACATTTTCATCAT	0.388000													58	101					0	0	0.003610	0	0
CAPN9	10753	broad.mit.edu	37	1	230898473	230898473	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:230898473C>T	ENST00000354537.1	+	4	559	c.477C>T	c.(475-477)ttC>ttT	p.F159F	CAPN9_ENST00000366666.2_Silent_p.F96F|CAPN9_ENST00000271971.2_Silent_p.F159F|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	159	Calpain catalytic.				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)				GCTTGGTTTTCCTCCACTCTG	0.582000													37	34					0	0	0.004878	0	0
PPP4R4	57718	broad.mit.edu	37	14	94712813	94712813	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:94712813C>T	ENST00000304338.3	+	14	1702	c.1548C>T	c.(1546-1548)gtC>gtT	p.V516V		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	516						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGCCACATGTCATATCAAGCG	0.408000													40	37					0	0	0.001706	0	0
SLC47A2	146802	broad.mit.edu	37	17	19584970	19584970	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:19584970C>T	ENST00000350657.5	-	15	1394	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Missense_Mutation_p.G429E	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	429						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					TCTCAGAACTCCGCCATAGAC	0.527000													17	12					0	0	0.001523	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420443	56420443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:56420443C>T	ENST00000407595.2	+	2	1610	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	370	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGAGGGAGCCCTGATCACAA	0.637000													6	8					0	0	0.001168	0	0
KMT2B	9757	broad.mit.edu	37	19	36210760	36210760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:36210760C>T	ENST00000420124.1	+	3	511	c.511C>T	c.(511-513)Cct>Tct	p.P171S	WBP7_ENST00000222270.7_Missense_Mutation_p.P171S|WBP7_ENST00000341701.1_Missense_Mutation_p.P171S|KMT2B_ENST00000607650.1_RNA																							AGATGTGGCTCCTACCCCCCC	0.632000													15	53					0	0	0.002450	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69094496	69094496	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:69094496A>T	ENST00000332644.5	-	9	1214	c.1053T>A	c.(1051-1053)tgT>tgA	p.C351*		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	351	Peptidase S1.				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						TAAATCCAGCACATAACATTG	0.358000													18	17					0	0	0.004990	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579534	11579534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:11579534C>T	ENST00000294484.6	+	8	2150	c.2012C>T	c.(2011-2013)cCc>cTc	p.P671L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.P671L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	671					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)		GATGACATCCCCTTGCTGGAG	0.637000													58	72					0	0	0.003610	0	0
CRYGB	1419	broad.mit.edu	37	2	209010568	209010568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:209010568C>T	ENST00000260988.4	-	2	229	c.182G>A	c.(181-183)gGg>gAg	p.G61E		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	61	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		AGGGTACTCCCCACGCCGCAG	0.612000													16	37					0	0	0.003163	0	0
ZNF536	9745	broad.mit.edu	37	19	31040070	31040070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:31040070G>A	ENST00000355537.3	+	4	3691	c.3544G>A	c.(3544-3546)Gat>Aat	p.D1182N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1182					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)					CGATGAAGAGGATGTTGAAAC	0.557000													18	60					0	0	0.001523	0	0
LRTM1	57408	broad.mit.edu	37	3	54952852	54952852	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:54952852G>A	ENST00000273286.5	-	3	834	c.672C>T	c.(670-672)atC>atT	p.I224I	LRTM1_ENST00000493075.1_Silent_p.I148I|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	224	LRRCT.					integral to membrane		p.I224I(1)		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)		GCTCATGAGGGATCCTAAGGA	0.542000													13	19					0	0	0.004007	0	0
CBY1	25776	broad.mit.edu	37	22	39064087	39064087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:39064087C>T	ENST00000216029.3	+	2	162	c.28C>T	c.(28-30)Ccg>Tcg	p.P10S	RP3-508I15.9_ENST00000422408.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.10_ENST00000423346.1_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	10					cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					TACGTTCAGTCCGAAGAAGAC	0.537000													12	35					0	0	0.001855	0	0
OR5T3	390154	broad.mit.edu	37	11	56020051	56020051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:56020051G>A	ENST00000303059.3	+	1	376	c.376G>A	c.(376-378)Gga>Aga	p.G126R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363000													36	60					0	0	0.001485	0	0
ELOVL7	79993	broad.mit.edu	37	5	60063651	60063651	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:60063651C>T	ENST00000505959.1	-	7	822	c.297_splice	c.e7+1	p.R99_splice	ELOVL7_ENST00000438340.1_Splice_Site_p.R112_splice|ELOVL7_ENST00000508821.1_Splice_Site_p.R112_splice|ELOVL7_ENST00000425382.1_Splice_Site_p.R112_splice			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	112					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GAAACTTACCCTCAAAGCTGT	0.368000													30	39					0	0	0.002445	0	0
UGT8	7368	broad.mit.edu	37	4	115586864	115586864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:115586864G>A	ENST00000310836.6	+	4	1516	c.994G>A	c.(994-996)Gga>Aga	p.G332R	UGT8_ENST00000394511.3_Missense_Mutation_p.G332R	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	332					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AAAGAATCTAGGAAACAACAC	0.343000													12	20					0	0	0.001855	0	0
MYLK3	91807	broad.mit.edu	37	16	46771906	46771906	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:46771906G>A	ENST00000394809.4	-	3	833	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	240					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCAGGGGCAGGTGGCCAGGG	0.657000													8	21					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9048749	9048749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9048749G>A	ENST00000397910.4	-	5	33085	c.32882C>T	c.(32881-32883)aCc>aTc	p.T10961I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10963	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						TGAAGGTGTGGTCTCTGGTTC	0.502000													11	70					0	0	0.000978	0	0
LILRB4	11006	broad.mit.edu	37	19	55175267	55175267	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:55175267G>A	ENST00000391736.1	+	5	441	c.126G>A	c.(124-126)ggG>ggA	p.G42G	LILRB4_ENST00000391733.3_Silent_p.G42G|LILRB4_ENST00000270452.2_Silent_p.G42G|LILRB4_ENST00000391734.3_Silent_p.G42G|LILRB4_ENST00000430952.2_Silent_p.G42G	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	42	Ig-like C2-type 1.					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)		TCAGCTGGGGGAACTCTGTGA	0.607000													30	29					0	0	0.002096	0	0
SESN2	83667	broad.mit.edu	37	1	28607248	28607248	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:28607248C>T	ENST00000253063.3	+	10	1699	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	460					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGCTGCTCCTGGAGGCGCG	0.637000													27	62					0	0	0.002096	0	0
KRT78	196374	broad.mit.edu	37	12	53242363	53242363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:53242363G>A	ENST00000304620.4	-	1	415	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	118	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGTTGTTGAGGGTTCTGATC	0.542000													14	24					0	0	0.002450	0	0
ATP2A2	488	broad.mit.edu	37	12	110764228	110764228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:110764228C>T	ENST00000395494.2	+	6	1060	c.497C>T	c.(496-498)cCc>cTc	p.P166L	ATP2A2_ENST00000539276.2_Missense_Mutation_p.P193L|ATP2A2_ENST00000308664.6_Missense_Mutation_p.P193L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	193					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CACACTGATCCCGTCCCTGAC	0.428000													7	22					0	0	0.004482	0	0
SLC12A8	84561	broad.mit.edu	37	3	124839505	124839505	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:124839505C>T	ENST00000423114.2	-	7	848	c.849G>A	c.(847-849)ggG>ggA	p.G283G	SLC12A8_ENST00000469902.1_Silent_p.G254G|SLC12A8_ENST00000314584.7_Silent_p.G7G|SLC12A8_ENST00000393469.4_Silent_p.G254G|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Silent_p.G55G			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	254					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TGAGGTCGCCCCCCATGTTGA	0.632000													11	9					0	0	0.000978	0	0
HGF	3082	broad.mit.edu	37	7	81334775	81334775	+	Silent	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:81334775T>C	ENST00000222390.5	-	17	2167	c.1941A>G	c.(1939-1941)cgA>cgG	p.R647R	HGF_ENST00000457544.2_Silent_p.R642R	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	647	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCACCTTCCCTCGATGATGCT	0.403000													9	11					0	0	0.004482	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42162677	42162677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:42162677G>A	ENST00000444063.1	+	11	1405	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.E493K|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.E425K|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.E425K|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.E493K			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	425					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTTCTGTTGGGAGAAATATCT	0.567000													35	76					0	0	0.001287	0	0
SYNE1	23345	broad.mit.edu	37	6	152647549	152647549	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:152647549G>C	ENST00000367255.5	-	79	15776	c.15175C>G	c.(15175-15177)Ctg>Gtg	p.L5059V	SYNE1_ENST00000448038.1_Missense_Mutation_p.L4988V|SYNE1_ENST00000423061.1_Missense_Mutation_p.L4988V|SYNE1_ENST00000341594.5_Missense_Mutation_p.L4806V|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5059V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5059					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)		AGTGGGTCCAGGGTGGCTACC	0.532000										HNSCC(10;0.0054)			4	86					0	0	0.000248	0	0
OR51D1	390038	broad.mit.edu	37	11	4661929	4661929	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4661929C>T	ENST00000357605.2	+	1	985	c.909C>T	c.(907-909)gtC>gtT	p.V303V		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCCCTTGTCTATGGAGCCA	0.517000													27	88					0	0	0.001271	0	0
MS4A4E	643680	broad.mit.edu	37	11	59997406	59997406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:59997406C>T	ENST00000427611.2	-	2	269	c.50G>A	c.(49-51)aGa>aAa	p.R17K	MS4A4E_ENST00000526086.1_Silent_p.K41K|MS4A4E_ENST00000398986.2_Silent_p.K41K|MS4A4E_ENST00000425663.1_Silent_p.K41K|MS4A4E_ENST00000398984.2_Silent_p.K41K|MS4A4E_ENST00000528394.1_Silent_p.K41K					membrane-spanning 4-domains, subfamily A, member 4E											ovary(1)	1						TGGGTTTCCTCTTGAAGAACT	0.448000													5	5					0	0	0.000602	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389870	77389870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:77389870G>A	ENST00000282849.5	-	9	1845	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	476	Peptidase M12B.				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						GCGGCTGCAGGAAGACCATGA	0.483000													15	57					0	0	0.004007	0	0
ZNF430	80264	broad.mit.edu	37	19	21239688	21239688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:21239688C>T	ENST00000261560.5	+	5	755	c.574C>T	c.(574-576)Cca>Tca	p.P192S		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATTTTCAAATCCAAATATACA	0.284000													6	24					0	0	0.001168	0	0
TRIP11	9321	broad.mit.edu	37	14	92466440	92466440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:92466440C>T	ENST00000267622.4	-	12	4943	c.4570G>A	c.(4570-4572)Gag>Aag	p.E1524K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1524					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGATTTAACTCTCCAGTCTTG	0.333000			T	PDGFRB	AML								6	39					0	0	0.001984	0	0
DEFB129	140881	broad.mit.edu	37	20	209998	209998	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:209998G>A	ENST00000246105.4	+	2	169	c.138G>A	c.(136-138)caG>caA	p.Q46Q		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	46					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		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;0.122)			AAGAGATACAGAAATGCAAGA	0.363000													21	33					0	0	0.002780	0	0
TNN	63923	broad.mit.edu	37	1	175053062	175053062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:175053062G>A	ENST00000239462.4	+	5	1338	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	409	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGCCGATATGACATCACTGG	0.537000													18	63					0	0	0.000958	0	0
CHL1	10752	broad.mit.edu	37	3	369967	369967	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:369967G>A	ENST00000256509.2	+	5	957	c.315G>A	c.(313-315)ggG>ggA	p.G105G	CHL1_ENST00000397491.2_Silent_p.G105G	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	105	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)		ACTTTCAAGGGAAATACCGCT	0.383000													7	20					0	0	0.003080	0	0
CHST4	10164	broad.mit.edu	37	16	71570936	71570936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:71570936G>A	ENST00000338482.5	+	3	699	c.356G>A	c.(355-357)aGa>aAa	p.R119K	CHST4_ENST00000539698.3_Missense_Mutation_p.R119K|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.R119K|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	119					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GGTCCCCGGAGACAGTCCAGC	0.587000													22	51					0	0	0.003330	0	0
TRAF6	7189	broad.mit.edu	37	11	36511691	36511691	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:36511691G>A	ENST00000526995.1	-	7	1512	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	TRAF6_ENST00000348124.5_Silent_p.L422L	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	422	MATH.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|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|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				AGGGCCAAGGGAGGTGGCTGT	0.483000													21	31					0	0	0.001882	0	0
SF3A2	8175	broad.mit.edu	37	19	2243485	2243485	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:2243485A>G	ENST00000221494.4	+	2	486	c.68A>G	c.(67-69)aAc>aGc	p.N23S		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	23					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		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)		TCCGAGAGCAACCGTGACCGC	0.682000													9	47					0	0	0.004482	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227201	56227201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:56227201C>T	ENST00000341744.3	-	4	1091	c.772G>A	c.(772-774)Ggg>Agg	p.G258R	PMEPA1_ENST00000265626.4_Missense_Mutation_p.G208R|PMEPA1_ENST00000347215.4_Missense_Mutation_p.G223R|PMEPA1_ENST00000395816.3_Missense_Mutation_p.G208R|PMEPA1_ENST00000395814.1_Missense_Mutation_p.G208R	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	258					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGCCGGGTCCCCTCCAGCAAG	0.647000													6	3					0	0	0.001984	0	0
CUTA	51596	broad.mit.edu	37	6	33385937	33385937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:33385937G>A	ENST00000374500.5	-	1	157	c.26C>T	c.(25-27)tCt>tTt	p.S9F	CUTA_ENST00000492510.1_5'UTR	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	0					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						TGCGCCTCCAGAGCCAGCCAA	0.587000													6	29					0	0	0.001984	0	0
STK19	8859	broad.mit.edu	37	6	31940120	31940120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:31940120G>A	ENST00000375331.2	+	2	428	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	STK19_ENST00000375333.2_Missense_Mutation_p.E88K	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	88						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E88K(1)		skin(5)|upper_aerodigestive_tract(2)	7						CTCTGCGCCGGAAGACCCTAT	0.582000													16	64					0	0	0.006122	0	0
DHTKD1	55526	broad.mit.edu	37	10	12129723	12129723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:12129723C>T	ENST00000263035.4	+	4	774	c.712C>T	c.(712-714)Cca>Tca	p.P238S	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	238					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GCAGTTCCCTCCAGAGGTAAG	0.448000													71	152					0	0	0.003610	0	0
ANK1	286	broad.mit.edu	37	8	41577278	41577278	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:41577278C>T	ENST00000396942.1	-	10	1091	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	ANK1_ENST00000265709.8_Silent_p.L369L|ANK1_ENST00000379758.2_Silent_p.L336L|ANK1_ENST00000347528.4_Silent_p.L336L|ANK1_ENST00000396945.1_Silent_p.L336L|ANK1_ENST00000289734.7_Silent_p.L336L|ANK1_ENST00000352337.4_Silent_p.L336L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	336	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCAGGTGGTCCAGGGTGATGT	0.602000													37	81					0	0	0.004878	0	0
SLC22A9	114571	broad.mit.edu	37	11	63176338	63176338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:63176338G>A	ENST00000279178.3	+	9	1837	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	530					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CACCATCCAGGATGAGAAAAA	0.498000													13	14					0	0	0.002450	0	0
KIAA0196	9897	broad.mit.edu	37	8	126061263	126061263	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:126061263G>T	ENST00000318410.7	-	19	2713	c.2364C>A	c.(2362-2364)aaC>aaA	p.N788K	KIAA0196_ENST00000517845.1_Missense_Mutation_p.N640K	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	788					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTCTTAGAAAGTTATTACACT	0.318000													10	20					1.58986e-06	3.30611e-06	0.000673	1	0
C5orf55	116349	broad.mit.edu	37	5	442795	442795	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:442795A>C	ENST00000408966.2	-	1	463	c.143T>G	c.(142-144)gTc>gGc	p.V48G		NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	48						extracellular region				large_intestine(1)|lung(2)	3						GGCAGGTATGACAGACGTTTG	0.597000													8	188					0	0	0.003080	0	0
GALNT13	114805	broad.mit.edu	37	2	154996921	154996921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:154996921G>A	ENST00000392825.3	+	4	781	c.214G>A	c.(214-216)Gag>Aag	p.E72K	GALNT13_ENST00000409237.1_Missense_Mutation_p.E72K	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	72						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						AGATGACCAGGAGAAAATGAA	0.383000													12	35					0	0	0.000978	0	0
CUZD1	50624	broad.mit.edu	37	10	124597015	124597015	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:124597015G>A	ENST00000368904.1	-	6	1453	c.504C>T	c.(502-504)ccC>ccT	p.P168P	CUZD1_ENST00000392790.1_Silent_p.P168P|CUZD1_ENST00000545804.1_Silent_p.P168P			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	168	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TTGGGTAATTGGGGCTGGTGA	0.423000													9	31					0	0	0.000673	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701998	96701998	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:96701998C>T	ENST00000260682.6	+	3	393	c.381C>T	c.(379-381)tcC>tcT	p.S127S	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	127					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)	GGCGTTTCTCCCTCATGACGC	0.502000													8	15					0	0	0.004482	0	0
CR2	1380	broad.mit.edu	37	1	207643325	207643325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:207643325G>A	ENST00000367057.3	+	6	1292	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	CR2_ENST00000367059.3_Missense_Mutation_p.R368Q|CR2_ENST00000458541.2_Missense_Mutation_p.R368Q|CR2_ENST00000367058.3_Missense_Mutation_p.R368Q	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	368	Sushi 6.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGAAAGATCGATATACCTAT	0.512000													13	11					0	0	0.003163	0	0
CTBP2	1488	broad.mit.edu	37	10	126715566	126715566	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:126715566G>A	ENST00000309035.6	-	1	893	c.763C>T	c.(763-765)Cgt>Tgt	p.R255C	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	411					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCGTAGCCACGATTCAGGGCC	0.652000													10	34					0	0	0.000443	0	0
THADA	63892	broad.mit.edu	37	2	43793741	43793741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:43793741G>A	ENST00000403856.1	-	16	2554	c.2407C>T	c.(2407-2409)Cct>Tct	p.P803S	THADA_ENST00000405975.2_Intron|THADA_ENST00000405006.4_Intron|THADA_ENST00000404790.1_Intron|THADA_ENST00000330266.7_Intron|THADA_ENST00000402360.2_Intron|THADA_ENST00000415080.2_Intron			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	798							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCAAAGAAAGGCAACAAAACT	0.294000													4	21					0	0	0.000248	0	0
HK1	3098	broad.mit.edu	37	10	71075758	71075758	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:71075758C>T	ENST00000298649.3	+	1	149	c.48C>T	c.(46-48)gcC>gcT	p.A16A	HK1_ENST00000404387.2_Intron|HK1_ENST00000360289.2_Intron|HK1_ENST00000448642.2_Intron	NM_033496.2	NP_277031.1	P19367	HXK1_HUMAN	hexokinase 1	0	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GTGCTGAGGCCTGGGAGATTG	0.577000													12	63					0	0	0.002450	0	0
PRPF8	10594	broad.mit.edu	37	17	1555054	1555054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:1555054G>A	ENST00000572621.1	-	39	6663	c.6398C>T	c.(6397-6399)cCa>cTa	p.P2133L	PRPF8_ENST00000304992.6_Missense_Mutation_p.P2133L|PRPF8_ENST00000575116.1_5'UTR			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2133	MPN.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTTATCTGGTGGGCTCACCCC	0.577000													54	46					0	0	0.003610	0	0
CLEC10A	10462	broad.mit.edu	37	17	6981423	6981423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:6981423G>A	ENST00000576617.1	-	3	346	c.77C>T	c.(76-78)cCt>cTt	p.P26L	CLEC10A_ENST00000416562.2_Missense_Mutation_p.P26L|CLEC10A_ENST00000254868.4_Missense_Mutation_p.P26L|CLEC10A_ENST00000571664.1_Missense_Mutation_p.P26L			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	26					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGACTGGAGAGGAAGTGGCCC	0.637000													17	19					0	0	0.006122	0	0
CSMD3	114788	broad.mit.edu	37	8	113323360	113323360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:113323360C>T	ENST00000297405.5	-	50	7976	c.7732G>A	c.(7732-7734)Gga>Aga	p.G2578R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2508R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2474R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2538R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2578	Sushi 14.					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						ATAATATATCCATGAGGTGGG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	37					0	0	0.001855	0	0
LRP2	4036	broad.mit.edu	37	2	170131732	170131732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:170131732C>T	ENST00000263816.3	-	14	2074	c.1789G>A	c.(1789-1791)Gga>Aga	p.G597R	LRP2_ENST00000443831.1_Missense_Mutation_p.G528R	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	597					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGGAGCCTCCATGAACTACA	0.358000													4	8					0	0	0.000248	0	0
TFCP2	7024	broad.mit.edu	37	12	51493552	51493552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:51493552G>A	ENST00000307660.4	-	11	1729	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	TFCP2_ENST00000549867.1_Missense_Mutation_p.P310S|TFCP2_ENST00000548115.1_Missense_Mutation_p.P337S|TFCP2_ENST00000257915.5_Missense_Mutation_p.P388S	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	388	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GTTAACCTTGGACGCACCATC	0.418000													10	17					0	0	0.000673	0	0
CEP55	55165	broad.mit.edu	37	10	95262876	95262876	+	Nonsense_Mutation	SNP	C	C	T	rs146596670		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:95262876C>T	ENST00000371485.3	+	3	494	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	64					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				CTAGAAAATTCGAGTCCTTGA	0.368000													8	28					0	0	0.004482	0	0
FAM188A	80013	broad.mit.edu	37	10	15828602	15828602	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:15828602G>A	ENST00000378036.1	-	4	1365	c.189C>T	c.(187-189)atC>atT	p.I63I	FAM188A_ENST00000277632.3_Silent_p.I358I|FAM188A_ENST00000477891.1_5'UTR			Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	358					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CCAATAATATGATTCCTAATC	0.333000													5	22					0	0	0.001168	0	0
ZNF880	400713	broad.mit.edu	37	19	52887591	52887591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:52887591C>T	ENST00000422689.2	+	4	773	c.758C>T	c.(757-759)tCa>tTa	p.S253L		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	253					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AATCGAATTTCACTCCTTGCA	0.393000													4	12					0	0	0.001168	0	0
CD163	9332	broad.mit.edu	37	12	7653894	7653894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:7653894C>T	ENST00000359156.4	-	3	500	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	CD163_ENST00000432237.2_Missense_Mutation_p.A100T|CD163_ENST00000541972.1_Missense_Mutation_p.A88T|CD163_ENST00000396620.3_Missense_Mutation_p.A100T	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	100	SRCR 1.				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						CATCCAGGGGCTTTGATAGCA	0.498000													7	54					0	0	0.001984	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236082	140236082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140236082G>A	ENST00000307360.5	+	1	449	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R150Q|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_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)			CTTGACTCTCGATTTCCACTA	0.438000													20	148					0	0	0.001882	0	0
RANBP3	8498	broad.mit.edu	37	19	5921218	5921218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:5921218G>A	ENST00000340578.6	-	14	1381	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	RANBP3_ENST00000591092.1_Nonsense_Mutation_p.R369*|RANBP3_ENST00000034275.8_Nonsense_Mutation_p.R374*|RANBP3_ENST00000439268.2_Nonsense_Mutation_p.R437*|RANBP3_ENST00000541471.1_Nonsense_Mutation_p.R314*	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	442	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TCACCTAGTCGGGACTGTAGT	0.617000													10	30					0	0	0.001855	0	0
DNAH3	55567	broad.mit.edu	37	16	21136549	21136549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:21136549C>T	ENST00000261383.3	-	9	1350	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.E451K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	451	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)		ATGACCAGCTCCCTAAGCTGC	0.448000													54	68					0	0	0.003610	0	0
GFI1B	8328	broad.mit.edu	37	9	135862084	135862084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:135862084G>A	ENST00000339463.3	+	6	838	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	GFI1B_ENST00000534944.1_Missense_Mutation_p.V7M|GFI1B_ENST00000372123.1_Missense_Mutation_p.V7M|GFI1B_ENST00000372122.1_Missense_Mutation_p.V7M|GFI1B_ENST00000372124.1_Missense_Mutation_p.V7M|GFI1B_ENST00000450530.1_Missense_Mutation_p.V7M			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	7	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)		CTCCTTCCTGGTGAAGAGCAA	0.597000													5	5					0	0	0.001984	0	0
LRIT2	340745	broad.mit.edu	37	10	85984123	85984123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:85984123C>T	ENST00000372113.4	-	2	863	c.858G>A	c.(856-858)tgG>tgA	p.W286*	LRIT2_ENST00000538192.1_Nonsense_Mutation_p.W286*	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	286	Ig-like.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGGGATAAGTCCATGCAATGG	0.537000													9	27					0	0	0.000443	0	0
SLC14A2	8170	broad.mit.edu	37	18	43258959	43258959	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:43258959G>A	ENST00000255226.6	+	19	3348	c.2532G>A	c.(2530-2532)ctG>ctA	p.L844L	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Silent_p.L321L|SLC14A2_ENST00000586448.1_Silent_p.L844L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	844						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGCCTACCTGGGTGCTGCCC	0.438000													16	13					0	0	0.001216	0	0
SPRY1	10252	broad.mit.edu	37	4	124323569	124323569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:124323569C>T	ENST00000394339.2	+	2	1163	c.823C>T	c.(823-825)Cct>Tct	p.P275S	SPRY1_ENST00000339241.1_Missense_Mutation_p.P275S	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	275	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CTGTTATCCTCCTGCTAAAGG	0.458000													25	22					0	0	0.002780	0	0
KRT4	3851	broad.mit.edu	37	12	53207450	53207450	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:53207450C>T	ENST00000551956.1	-	1	885	c.393G>A	c.(391-393)caG>caA	p.Q131Q	KRT4_ENST00000293774.4_Silent_p.Q205Q|KRT4_ENST00000458244.2_Silent_p.Q111Q			B4DRS2	B4DRS2_HUMAN	keratin 4	131						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TCCGGACTTTCTGGATCTCAG	0.597000													54	69					0	0	0.003610	0	0
COL3A1	1281	broad.mit.edu	37	2	189861133	189861133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:189861133G>A	ENST00000304636.3	+	24	1842	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R	COL3A1_ENST00000317840.5_Missense_Mutation_p.G558R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	558	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGGAAGTCAAGGAGAAAGTGG	0.438000													13	21					0	0	0.001855	0	0
TACC2	10579	broad.mit.edu	37	10	123970852	123970852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:123970852G>A	ENST00000369005.1	+	9	7252	c.6912G>A	c.(6910-6912)atG>atA	p.M2304I	TACC2_ENST00000515603.1_Missense_Mutation_p.M2259I|TACC2_ENST00000260733.3_Missense_Mutation_p.M382I|TACC2_ENST00000360561.3_Missense_Mutation_p.M382I|TACC2_ENST00000368999.1_Missense_Mutation_p.M382I|TACC2_ENST00000369000.1_Missense_Mutation_p.M8I|TACC2_ENST00000453444.2_Missense_Mutation_p.M2308I|TACC2_ENST00000515273.1_Missense_Mutation_p.M2308I|TACC2_ENST00000358010.1_Missense_Mutation_p.M450I|TACC2_ENST00000513429.1_Missense_Mutation_p.M450I|TACC2_ENST00000369004.3_Missense_Mutation_p.M382I|TACC2_ENST00000369001.1_Missense_Mutation_p.M8I|TACC2_ENST00000334433.3_Missense_Mutation_p.M2304I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2304						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)				GGCCAAAGATGAAAAAGACAC	0.498000													30	54					0	0	0.001061	0	0
GLIS1	148979	broad.mit.edu	37	1	53975611	53975611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:53975611G>A	ENST00000312233.2	-	8	2014	c.1448C>T	c.(1447-1449)cCg>cTg	p.P483L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	483	Pro-rich.				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						CTGGCCCCCCGGAGAATGGCT	0.687000													4	8					0	0	0.000602	0	0
ALOX15	246	broad.mit.edu	37	17	4540538	4540538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:4540538C>T	ENST00000570836.1	-	8	919	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	ALOX15_ENST00000574640.1_Missense_Mutation_p.E236K|ALOX15_ENST00000545513.1_Missense_Mutation_p.E297K|ALOX15_ENST00000293761.3_Missense_Mutation_p.E275K			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	275	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AAGTCAGCTTCGAACAGTGTG	0.547000													19	17					0	0	0.001523	0	0
HLA-B	3106	broad.mit.edu	37	6	31322884	31322884	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:31322884C>T	ENST00000412585.2	-	5	1040	c.1012_splice	c.e5+1	p.G338_splice		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CCTTCCCTACCTGAACTCTTC	0.582000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				15	34					0	0	0.006122	0	0
METTL18	92342	broad.mit.edu	37	1	169761910	169761910	+	Silent	SNP	G	G	A	rs34396097	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:169761910G>A	ENST00000310392.4	-	2	1280	c.927C>T	c.(925-927)ttC>ttT	p.F309F	C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Silent_p.F309F	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	309			F -> L (in dbSNP:rs34396097).			cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						ACAGTCTAAGGAAAGTCTGGT	0.348000													32	32					0	0	0.001512	0	0
DNAH8	1769	broad.mit.edu	37	6	38881675	38881675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:38881675G>A	ENST00000359357.3	+	65	9513	c.9259G>A	c.(9259-9261)Gat>Aat	p.D3087N	DNAH8_ENST00000441566.1_Missense_Mutation_p.D3051N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3304N					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						ACTCTCTCAGGATCTTGCAGT	0.373000													8	17					0	0	0.000443	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178553002	178553002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:178553002G>A	ENST00000251582.7	-	18	2848	c.2747C>T	c.(2746-2748)cCa>cTa	p.P916L		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	916	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)		CACTCACACTGGCTGGGAGCA	0.662000													14	20					0	0	0.002450	0	0
ISOC2	79763	broad.mit.edu	37	19	55966676	55966676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:55966676C>T	ENST00000438389.2	-	3	994	c.160G>A	c.(160-162)Gac>Aac	p.D54N	ISOC2_ENST00000085068.3_Missense_Mutation_p.D140N|ISOC2_ENST00000425675.2_Missense_Mutation_p.D124N	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	124					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		AGCCCCCGGTCTAGGAGGTCC	0.652000													17	11					0	0	0.004990	0	0
BCAT2	587	broad.mit.edu	37	19	49299747	49299747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:49299747G>A	ENST00000402551.1	-	11	1578	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	BCAT2_ENST00000598162.1_Missense_Mutation_p.P360S|BCAT2_ENST00000545387.2_Missense_Mutation_p.P268S|BCAT2_ENST00000597011.1_Missense_Mutation_p.P320S|BCAT2_ENST00000316273.6_Missense_Mutation_p.P360S|BCAT2_ENST00000599246.1_Missense_Mutation_p.P268S			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	360						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TCCATGGTGGGAATGTGGAGG	0.612000													31	54					0	0	0.002445	0	0
TMPPE	643853	broad.mit.edu	37	3	33134522	33134522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:33134522G>A	ENST00000342462.4	-	2	1356	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.S252F|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307377.8_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	389						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						TGTGTGCCCAGAAAGGATCAG	0.562000													5	99					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179605638	179605638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179605638G>A	ENST00000589042.1	-	48	12546	c.12322C>T	c.(12322-12324)Cct>Tct	p.P4108S	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P3791S|TTN_ENST00000460472.2_Missense_Mutation_p.P3745S|TTN_ENST00000359218.5_Missense_Mutation_p.P3870S|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.P3937S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3791							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)			GCTCCCAAAGGAAGCTGACTG	0.398000													8	23					0	0	0.003080	0	0
FOXG1	2290	broad.mit.edu	37	14	29237749	29237749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:29237749C>T	ENST00000382535.3	+	2	1633	c.1264C>T	c.(1264-1266)Ccg>Tcg	p.P422S	FOXG1_ENST00000313071.4_Missense_Mutation_p.P422S			P55316	FOXG1_HUMAN	forkhead box G1	422					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCCCCACGTCCCGCACCCGTC	0.682000													12	23					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9090523	9090523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9090523C>T	ENST00000397910.4	-	1	1495	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	431	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						ATTCAAAGTTCCTTCTGTTTC	0.493000													23	79					0	0	0.003954	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396624	38396624	+	Silent	SNP	C	C	T	rs141592792		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:38396624C>T	ENST00000377698.3	+	2	1032	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	293					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.I293I(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GCCCCAGCATCGTGCTGGCCG	0.617000													25	38					0	0	0.001512	0	0
KDM4D	55693	broad.mit.edu	37	11	94731314	94731314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:94731314C>T	ENST00000335080.5	+	3	1610	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	KDM4D_ENST00000536741.1_Missense_Mutation_p.P260S	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	260	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AAATGGGATTCCCTTCAATCG	0.567000													25	64					0	0	0.004656	0	0
SALL1	6299	broad.mit.edu	37	16	51175780	51175780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:51175780C>T	ENST00000440970.1	-	2	493	c.62G>A	c.(61-63)gGa>gAa	p.G21E	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G118E	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	118					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCTGTCAAGTCCGTTGTGTTC	0.552000													47	81					0	0	0.003610	0	0
AMPD2	271	broad.mit.edu	37	1	110163638	110163638	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:110163638G>A	ENST00000256578.3	+	1	363	c.3G>A	c.(1-3)atG>atA	p.M1I	AMPD2_ENST00000528667.1_Start_Codon_SNP_p.M1I|AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000342115.4_Intron	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	1					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TAGACAACATGAGAAATCGTG	0.652000													8	23					0	0	0.000673	0	0
SLC9A2	6549	broad.mit.edu	37	2	103310886	103310886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:103310886G>A	ENST00000233969.2	+	6	1581	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	480						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						ATAACTATTCGACCACTGGTG	0.284000													7	42					0	0	0.004482	0	0
ROS1	6098	broad.mit.edu	37	6	117709098	117709098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:117709098G>A	ENST00000368508.3	-	13	2057	c.1859C>T	c.(1858-1860)cCt>cTt	p.P620L	ROS1_ENST00000368507.3_Missense_Mutation_p.P615L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	620	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGTGACTTCAGGAGGGTCTTG	0.433000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								5	131					0	0	0.001168	0	0
MTUS2	23281	broad.mit.edu	37	13	29600048	29600048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:29600048G>A	ENST00000431530.3	+	1	1301	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	405						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTCCTTAGGAGGGGCTGATAA	0.542000													15	4					0	0	0.003163	0	0
PTAFR	5724	broad.mit.edu	37	1	28476528	28476528	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:28476528G>A	ENST00000373857.3	-	2	1639	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	PTAFR_ENST00000539896.1_Silent_p.I335I|PTAFR_ENST00000305392.3_Silent_p.I335I	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	335					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		AATTGCCAGGGATCTGGTTGA	0.527000													51	113					0	0	0.003610	0	0
LPA	4018	broad.mit.edu	37	6	160999672	160999672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:160999672C>T	ENST00000447678.1	-	28	4474	c.4354G>A	c.(4354-4356)Gat>Aat	p.D1452N	LPA_ENST00000316300.5_Missense_Mutation_p.D1452N	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3960	Kringle 13.				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.D1452N(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)	ACACTGGGATCCATGGTGTAA	0.527000													8	15					0	0	0.004482	0	0
PLCB2	5330	broad.mit.edu	37	15	40591081	40591081	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:40591081G>A	ENST00000260402.3	-	9	1017	c.768C>T	c.(766-768)tcC>tcT	p.S256S	PLCB2_ENST00000557821.1_Silent_p.S256S|PLCB2_ENST00000456256.2_Silent_p.S256S	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	256					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGAACAGCAGGGAGTTAAGCC	0.567000													53	56					0	0	0.003610	0	0
RFX6	222546	broad.mit.edu	37	6	117246643	117246643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:117246643C>T	ENST00000332958.2	+	16	1722	c.1706C>T	c.(1705-1707)tCt>tTt	p.S569F		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	569					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCACTGCTTCTCCGAGTTCA	0.433000													25	84					0	0	0.001512	0	0
ABCA13	154664	broad.mit.edu	37	7	48312795	48312795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:48312795G>A	ENST00000435803.1	+	17	3556	c.3532G>A	c.(3532-3534)Ggt>Agt	p.G1178S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1178					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTCATCATGGTTTCACTCA	0.373000													22	43					0	0	0.001523	0	0
METTL9	51108	broad.mit.edu	37	16	21666636	21666636	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:21666636C>T	ENST00000358154.3	+	5	1098	c.840C>T	c.(838-840)ttC>ttT	p.F280F	METTL9_ENST00000396014.4_Silent_p.F279F	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	280										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		CTGAAGTTTTCAGAAAAGCTG	0.408000													16	39					0	0	0.004007	0	0
THSD7B	80731	broad.mit.edu	37	2	137917934	137917934	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:137917934A>T	ENST00000409968.1	+	6	1699	c.1521A>T	c.(1519-1521)aaA>aaT	p.K507N	THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Missense_Mutation_p.K507N|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.K476N					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)		CTCAGGGGAAAAAAGGTGAGT	0.458000													8	21					0	0	0.003080	0	0
OR2A5	393046	broad.mit.edu	37	7	143747760	143747760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:143747760G>A	ENST00000408906.2	+	1	300	c.266G>A	c.(265-267)aGa>aAa	p.R89K		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TTGAACAAGAGAAAAACAATC	0.438000													36	109					0	0	0.001287	0	0
KIAA0319L	79932	broad.mit.edu	37	1	36020054	36020054	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:36020054G>A	ENST00000325722.3	-	2	273	c.39C>T	c.(37-39)tcC>tcT	p.S13S		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	13						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATAAAATCCAGGAAGCAGGAT	0.463000													37	66					0	0	0.005524	0	0
TADA2A	6871	broad.mit.edu	37	17	35797851	35797851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:35797851C>T	ENST00000394395.2	+	5	378	c.205C>T	c.(205-207)Cct>Tct	p.P69S	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Missense_Mutation_p.P69S|TADA2A_ENST00000586023.1_Missense_Mutation_p.P69S|TADA2A_ENST00000417170.1_Missense_Mutation_p.P69S	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	69					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TTCAGATTTTCCTGTCCTTGA	0.463000													51	45					0	0	0.003610	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698526	96698526	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:96698526C>T	ENST00000260682.6	+	1	99	c.87C>T	c.(85-87)ctC>ctT	p.L29L	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	29					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)	GAGGAAAACTCCCTCCTGGCC	0.463000													8	28					0	0	0.003080	0	0
C1orf210	149466	broad.mit.edu	37	1	43748570	43748570	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:43748570G>A	ENST00000523677.1	-	3	461	c.228C>T	c.(226-228)ggC>ggT	p.G76G	C1orf210_ENST00000423420.1_Silent_p.G76G	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	76						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGTGGGCGGCCTCCCCTTC	0.607000													21	50					0	0	0.002780	0	0
NCAPD2	9918	broad.mit.edu	37	12	6637358	6637358	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:6637358C>A	ENST00000315579.5	+	25	3962	c.3163C>A	c.(3163-3165)Cag>Aag	p.Q1055K	NCAPD2_ENST00000545962.1_Missense_Mutation_p.Q1010K	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1055					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTGCGACTCCCAGCTTCGTCT	0.532000													49	136					4.44712e-29	9.37539e-29	0.003610	1	0
LRRC49	54839	broad.mit.edu	37	15	71196915	71196915	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:71196915C>T	ENST00000260382.5	+	5	581	c.321C>T	c.(319-321)atC>atT	p.I107I	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Silent_p.I97I|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Silent_p.I63I|LRRC49_ENST00000560369.1_Silent_p.I112I	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	107						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TATGTCCTATCATCAATGGGG	0.308000													22	41					0	0	0.002780	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815708	23815708	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:23815708G>A	ENST00000264867.2	-	8	1517	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	466					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGGGATGACCGAAGTGCTTGT	0.488000													18	59					0	0	0.006122	0	0
DAPP1	27071	broad.mit.edu	37	4	100738097	100738097	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:100738097G>A	ENST00000296414.7	+	1	108	c.27G>A	c.(25-27)ggG>ggA	p.G9G	DAPP1_ENST00000512369.1_Silent_p.G9G			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	9					signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TTCTAGAAGGGAAGATGAGCA	0.557000													3	3					0	0	0.000602	0	0
DGKQ	1609	broad.mit.edu	37	4	955780	955780	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:955780A>G	ENST00000273814.3	-	19	2378	c.2305T>C	c.(2305-2307)Ttc>Ctc	p.F769L		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	769					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTGCTTGTGAACTTGCCAGGC	0.632000													35	134					0	0	0.001485	0	0
MOCS1	4337	broad.mit.edu	37	6	39881527	39881527	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:39881527G>A	ENST00000373186.4	-	4	773	c.636C>T	c.(634-636)aaC>aaT	p.N212N	MOCS1_ENST00000432280.2_Silent_p.N183N|MOCS1_ENST00000340692.5_Silent_p.N212N|MOCS1_ENST00000373195.3_Silent_p.N125N|MOCS1_ENST00000373175.4_Silent_p.N183N|MOCS1_ENST00000308559.7_Silent_p.N212N|MOCS1_ENST00000373188.2_Silent_p.N212N|MOCS1_ENST00000425303.2_Silent_p.N212N	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	212	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCTTCACAGGGTTGTAGCCCA	0.612000													28	49					0	0	0.002836	0	0
MZF1	7593	broad.mit.edu	37	19	59080689	59080689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:59080689G>A	ENST00000215057.2	-	5	1287	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	MZF1_ENST00000594108.1_Missense_Mutation_p.P243S|MZF1_ENST00000599369.1_Missense_Mutation_p.P243S|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_Missense_Mutation_p.P243S	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	243					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		AGGGCCCTGGGGTGCTCCCTC	0.607000													10	19					0	0	0.000443	0	0
ESF1	51575	broad.mit.edu	37	20	13756650	13756650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:13756650G>A	ENST00000202816.1	-	3	1011	c.904C>T	c.(904-906)Ctt>Ttt	p.L302F		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	302	Asp-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						CCCCTTGCAAGATCAGGGCCA	0.418000													54	95					0	0	0.003610	0	0
MKNK2	2872	broad.mit.edu	37	19	2043508	2043508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:2043508C>T	ENST00000250896.3	-	6	657	c.413G>A	c.(412-414)gGa>gAa	p.G138E	MKNK2_ENST00000309340.7_Missense_Mutation_p.G138E|MKNK2_ENST00000541165.1_Missense_Mutation_p.G7E|MKNK2_ENST00000591601.1_Missense_Mutation_p.G138E	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	138	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		CTACCTGTGTCCCTGGCACTG	0.582000													16	23					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179568946	179568946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179568946G>A	ENST00000589042.1	-	106	30375	c.30151C>T	c.(30151-30153)Cga>Tga	p.R10051*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R9734*|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R8807*|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9734	Glu-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)			TCTTCTGCTCGAACATCTGCA	0.423000													13	56					0	0	0.001368	0	0
KCNK18	338567	broad.mit.edu	37	10	118969418	118969418	+	Missense_Mutation	SNP	G	G	A	rs3026042		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:118969418G>A	ENST00000334549.1	+	3	763	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	255			E -> K (in dbSNP:rs3026042).			integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTCGTGTCCCGAACTGGTGTT	0.532000													14	30					0	0	0.002450	0	0
CDHR3	222256	broad.mit.edu	37	7	105624729	105624729	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:105624729C>T	ENST00000542731.1	+	4	615	c.507C>T	c.(505-507)ccC>ccT	p.P169P	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000317716.9_Silent_p.P169P|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000478080.1_Silent_p.P81P			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	169	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GAAACATTCCCCTCAGTGTAA	0.502000													9	20					0	0	0.004482	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55329935	55329935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:55329935G>A	ENST00000391728.4	+	3	269	c.236G>A	c.(235-237)aGc>aAc	p.S79N	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.S79N|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.S79N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.S79N|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.S79N	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TTCCAGGAGAGCTTCAACATG	0.507000													14	48					0	0	0.001855	0	0
FAM135B	51059	broad.mit.edu	37	8	139145022	139145022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:139145022C>T	ENST00000395297.1	-	20	4205	c.4035G>A	c.(4033-4035)atG>atA	p.M1345I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1345										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)			GGTTGTTGATCATTTCTGCAT	0.502000										HNSCC(54;0.14)			60	136					0	0	0.003610	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381350	55381350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:55381350G>A	ENST00000398661.2	-	5	570	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.R117C|HMGCLL1_ENST00000370850.2_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	147							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGGATAGCGAACTCCTGGA	0.343000													4	25					0	0	0.000602	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152542	66152542	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:66152542C>T	ENST00000489520.2	-	0	401					NR_026825.2																						GCCAGTATTCCTGGAGGATAT	0.502000													4	9					0	0	0.000248	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178540948	178540948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:178540948G>A	ENST00000251582.7	-	22	3657	c.3556C>T	c.(3556-3558)Ccc>Tcc	p.P1186S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1186					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)		TTTTCATAGGGGCTCGGTCGT	0.463000													72	65					0	0	0.003610	0	0
BMP10	27302	broad.mit.edu	37	2	69098402	69098402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:69098402G>A	ENST00000295379.1	-	1	247	c.89C>T	c.(88-90)tCt>tTt	p.S30F		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	30					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTCCAGAGGAGACTGCTCTAG	0.507000													7	45					0	0	0.001984	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215950	20215950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20215950G>A	ENST00000331723.1	+	1	364	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATGGCCTATGACAGGTATGT	0.502000													6	9					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179468902	179468902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179468902C>T	ENST00000589042.1	-	282	54736	c.54512G>A	c.(54511-54513)gGa>gAa	p.G18171E	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16530E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9106E|TTN_ENST00000359218.5_Missense_Mutation_p.G9231E|TTN_ENST00000342992.6_Missense_Mutation_p.G15603E|TTN_ENST00000342175.6_Missense_Mutation_p.G9298E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16530	Ig-like 105.						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)			TTTTGGTTTTCCTGGAGGTCC	0.468000													10	16					0	0	0.000443	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919420	51919420	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:51919420G>A	ENST00000353836.5	-	5	977	c.754_splice	c.e5-1	p.A252_splice	CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000439889.2_Splice_Site_p.A194_splice|SIGLEC10_ENST00000339313.5_Splice_Site_p.A252_splice|SIGLEC10_ENST00000436984.2_Splice_Site_p.A204_splice|SIGLEC10_ENST00000441969.3_Splice_Site_p.A194_splice|SIGLEC10_ENST00000356298.5_Splice_Site_p.A252_splice|SIGLEC10_ENST00000432469.2_Splice_Site_p.A169_splice	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	252	Ig-like C2-type 2.				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)		GGGGCTCCAGGGCTggagtgg	0.572000													5	9					0	0	0.000602	0	0
ACACB	32	broad.mit.edu	37	12	109692060	109692060	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:109692060C>T	ENST00000338432.7	+	44	6206	c.6087C>T	c.(6085-6087)ccC>ccT	p.P2029P	ACACB_ENST00000377848.3_Silent_p.P2029P|ACACB_ENST00000377854.5_Silent_p.P1959P|ACACB_ENST00000543201.1_Silent_p.P695P			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2029	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCACTGACCCCATTGACAGAG	0.473000													42	90					0	0	0.002222	0	0
PELP1	27043	broad.mit.edu	37	17	4576310	4576310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:4576310G>A	ENST00000301396.4	-	16	2633	c.2408C>T	c.(2407-2409)cCc>cTc	p.P803L	PELP1_ENST00000572293.1_Missense_Mutation_p.P709L|PELP1_ENST00000436683.2_Missense_Mutation_p.P512L|PELP1_ENST00000269230.7_Missense_Mutation_p.P570S|PELP1_ENST00000574876.1_Missense_Mutation_p.P659L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	659	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGCCCTGAAGGGCGATGGGGC	0.701000													16	20					0	0	0.004990	0	0
LPAR3	23566	broad.mit.edu	37	1	85331488	85331488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:85331488G>A	ENST00000440886.1	-	1	354	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	LPAR3_ENST00000370611.3_Nonsense_Mutation_p.Q106*|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	106					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AGAAGCCCCTGACGGAGAAAC	0.502000													88	163					0	0	0.003610	0	0
FKRP	79147	broad.mit.edu	37	19	47259941	47259941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:47259941C>T	ENST00000318584.5	+	4	1531	c.1234C>T	c.(1234-1236)Cac>Tac	p.H412Y	FKRP_ENST00000391909.3_Missense_Mutation_p.H412Y|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	412						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGAAAGCAACCACTTGCACGT	0.637000													4	22					0	0	0.001168	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501749	140501749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140501749G>A	ENST00000194152.1	+	1	169	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		57	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)			GGGAATTGGGGAACTGGCCTC	0.557000													8	48					0	0	0.000443	0	0
HTR1E	3354	broad.mit.edu	37	6	87725313	87725313	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:87725313C>T	ENST00000305344.4	+	2	964	c.261C>T	c.(259-261)cgC>cgT	p.R87R	HTR1E_ENST00000369584.1_Silent_p.R87R	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	87					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCATGGATCGCTGGAAGCTTG	0.567000													59	55					0	0	0.003610	0	0
STAB1	23166	broad.mit.edu	37	3	52552328	52552328	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:52552328G>A	ENST00000321725.6	+	46	4838	c.4761_splice	c.e46-1	p.E1588_splice		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1588	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCCCCCAGGAGCTCCTGAG	0.647000													14	34					0	0	0.001523	0	0
OR4K2	390431	broad.mit.edu	37	14	20344713	20344713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20344713G>A	ENST00000298642.2	+	1	323	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	96					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)		TCTTTTGATGGCTGCCTTACC	0.408000													28	51					0	0	0.001061	0	0
VTI1A	143187	broad.mit.edu	37	10	114427985	114427985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:114427985G>A	ENST00000393077.2	+	6	552	c.436G>A	c.(436-438)Ggt>Agt	p.G146S	VTI1A_ENST00000432306.1_Missense_Mutation_p.G146S	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	146					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		AGAGCAAATTGGTCAGGAGAT	0.343000			T	TCF7L2	colorectal								4	15					0	0	0.000248	0	0
GPHB5	122876	broad.mit.edu	37	14	63784480	63784480	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:63784480C>T	ENST00000539258.1	-	0	140							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		TGCGCAGGTTCCCACTGGAGG	0.622000													13	41					0	0	0.001855	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526999	97526999	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:97526999G>A	ENST00000305476.5	-	15	1998	c.1866C>T	c.(1864-1866)gcC>gcT	p.A622A		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	622	Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGTAGGCCCCGGCATGGCGGG	0.697000													15	12					0	0	0.001216	0	0
P4HA3	283208	broad.mit.edu	37	11	73997402	73997402	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:73997402C>T	ENST00000331597.4	-	6	849	c.804G>A	c.(802-804)ttG>ttA	p.L268L	P4HA3_ENST00000427714.2_Silent_p.L268L	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	268						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)					TTTCATATTTCAAGACATTCC	0.507000													7	113					0	0	0.003080	0	0
SPSB4	92369	broad.mit.edu	37	3	140785431	140785431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:140785431C>T	ENST00000310546.2	+	2	1229	c.485C>T	c.(484-486)cCg>cTg	p.P162L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	162	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GTGGCCTACCCGGCCTTTCTG	0.682000													4	4					0	0	0.000248	0	0
OR52K2	119774	broad.mit.edu	37	11	4471496	4471496	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4471496C>T	ENST00000325719.4	+	1	972	c.927C>T	c.(925-927)ttC>ttT	p.F309F		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	309					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)		TGGGAGTATTCCCAAGAAAGG	0.493000													10	15					0	0	0.000443	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793164	65793164	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:65793164G>A	ENST00000312106.5	-	1	824	c.687C>T	c.(685-687)tcC>tcT	p.S229S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	229	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CATGATGACGGGACCTGCCAT	0.587000													6	31					0	0	0.001168	0	0
MYH7	4625	broad.mit.edu	37	14	23885492	23885492	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:23885492G>A	ENST00000355349.3	-	34	4836	c.4674C>T	c.(4672-4674)atC>atT	p.I1558I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1558					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGCCCGGAGGATCTTGCCCT	0.647000													6	86					0	0	0.001984	0	0
CDH5	1003	broad.mit.edu	37	16	66431897	66431897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:66431897G>A	ENST00000341529.3	+	9	1521	c.1373G>A	c.(1372-1374)gGa>gAa	p.G458E	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	458	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ACCCCCACAGGAAAAGAATCC	0.537000													35	86					0	0	0.001485	0	0
DNAH9	1770	broad.mit.edu	37	17	11725779	11725779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:11725779G>A	ENST00000262442.3	+	47	8943	c.8875G>A	c.(8875-8877)Gga>Aga	p.G2959R	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2959R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2959	AAA 4 (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)		CTCCCCTGTGGGAAACAAGCT	0.542000													26	44					0	0	0.001061	0	0
DSCAM	1826	broad.mit.edu	37	21	41414351	41414351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:41414351G>A	ENST00000400454.1	-	32	6110	c.5633C>T	c.(5632-5634)cCt>cTt	p.P1878L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1878					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)				TCCATCCTGAGGTTTGGGGGG	0.572000													20	30					0	0	0.001523	0	0
MAP2K6	5608	broad.mit.edu	37	17	67515502	67515502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:67515502G>A	ENST00000590474.1	+	5	582	c.295G>A	c.(295-297)Gat>Aat	p.D99N	MAP2K6_ENST00000589647.1_Missense_Mutation_p.D43N	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	99	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|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|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GCTACTGATGGATTTGGATAT	0.468000													61	102					0	0	0.003610	0	0
CAPN12	147968	broad.mit.edu	37	19	39230812	39230812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:39230812G>A	ENST00000328867.4	-	5	916	c.608C>T	c.(607-609)gCt>gTt	p.A203V	CAPN12_ENST00000601953.1_Missense_Mutation_p.A54V	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	203	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			ATCCACAAAAGCCTCATTCAT	0.607000													5	13					0	0	0.000602	0	0
TTBK1	84630	broad.mit.edu	37	6	43225648	43225648	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:43225648C>T	ENST00000259750.4	+	10	1043	c.960C>T	c.(958-960)tcC>tcT	p.S320S	TTBK1_ENST00000304139.5_Silent_p.S269S	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	320						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCTCCTGTCCACGAGCACCT	0.602000													16	51					0	0	0.004990	0	0
KCNH5	27133	broad.mit.edu	37	14	63175101	63175101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:63175101G>A	ENST00000322893.7	-	11	2360	c.2092C>T	c.(2092-2094)Ctc>Ttc	p.L698F	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	698					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGAATGCTGAGGGTCACCTCA	0.542000													55	96					0	0	0.003610	0	0
SSX2IP	117178	broad.mit.edu	37	1	85128012	85128012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:85128012G>A	ENST00000437941.2	-	7	1067	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	SSX2IP_ENST00000342203.3_Missense_Mutation_p.R266C|SSX2IP_ENST00000370612.4_Missense_Mutation_p.R266C|SSX2IP_ENST00000605755.1_Missense_Mutation_p.R239C|SSX2IP_ENST00000603677.1_Intron	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	266					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGTTTCTGACGATATTCATAA	0.323000													32	51					0	0	0.001512	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554513	140554513	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140554513C>T	ENST00000231137.3	+	1	2271	c.2097C>T	c.(2095-2097)ttC>ttT	p.F699F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		699					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCGCTCTTCCTCCTCTCGG	0.706000													5	105					0	0	0.001984	0	0
DUSP27	92235	broad.mit.edu	37	1	167064132	167064132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:167064132G>A	ENST00000361200.2	+	2	212	c.46G>A	c.(46-48)Gag>Aag	p.E16K	DUSP27_ENST00000443333.1_Missense_Mutation_p.E16K|DUSP27_ENST00000271385.5_Missense_Mutation_p.E16K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	16					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGTCCCAAGCGAGGAGGACGA	0.572000													14	18					0	0	0.006122	0	0
E2F7	144455	broad.mit.edu	37	12	77449688	77449688	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:77449688C>A	ENST00000322886.7	-	3	551	c.316G>T	c.(316-318)Gga>Tga	p.G106*	E2F7_ENST00000416496.2_Nonsense_Mutation_p.G106*	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	106					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CGGAATAGTCCCTTTTTCTTC	0.448000													27	34					7.01153e-11	1.46512e-10	0.001271	1	0
OR6C70	390327	broad.mit.edu	37	12	55863785	55863785	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:55863785G>A	ENST00000327335.4	-	1	137	c.138C>T	c.(136-138)ctC>ctT	p.L46L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CCAGCAGAATGAGGGCAATGA	0.388000													10	22					0	0	0.000673	0	0
NISCH	11188	broad.mit.edu	37	3	52524782	52524782	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:52524782C>T	ENST00000345716.4	+	19	3809	c.3675C>T	c.(3673-3675)ttC>ttT	p.F1225F	NISCH_ENST00000479054.1_Silent_p.F1225F	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1225					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCCAGTGCTTCGTGCTAAAGC	0.532000													68	103					0	0	0.003610	0	0
RASA2	5922	broad.mit.edu	37	3	141289762	141289762	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:141289762T>C	ENST00000286364.3	+	10	907	c.872T>C	c.(871-873)cTa>cCa	p.L291P	RASA2_ENST00000452898.1_Missense_Mutation_p.L291P			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	291					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGGTACTTGCTACAGCCAAGA	0.358000													11	24					0	0	0.001368	0	0
KCNT2	343450	broad.mit.edu	37	1	196438197	196438197	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:196438197C>T	ENST00000367433.5	-	6	487	c.384_splice	c.e6-1	p.G129_splice	KCNT2_ENST00000294725.8_Splice_Site_p.G129_splice|KCNT2_ENST00000367431.4_Splice_Site_p.G129_splice|KCNT2_ENST00000451324.2_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	129						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						CCAGATGTTTCCCTTCCAAGA	0.343000													4	11					0	0	0.000248	0	0
TTPA	7274	broad.mit.edu	37	8	63973924	63973924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:63973924G>A	ENST00000260116.4	-	5	755	c.724C>T	c.(724-726)Cct>Tct	p.P242S	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	242	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TATTCCAGAGGAAGAATGTCT	0.388000													19	41					0	0	0.001216	0	0
TSGA13	114960	broad.mit.edu	37	7	130368484	130368484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:130368484G>A	ENST00000456951.1	-	4	901	c.50C>T	c.(49-51)tCa>tTa	p.S17L	TSGA13_ENST00000356588.3_Missense_Mutation_p.S17L			Q96PP4	TSG13_HUMAN	testis specific, 13	17										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GCTATTTTCTGAAGTCTTTGA	0.413000													191	425					0	0	0.003610	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141460944	141460944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:141460944G>A	ENST00000389328.4	-	2	837	c.823C>T	c.(823-825)Ctt>Ttt	p.L275F	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.L177F|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.L177F	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	177					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ACACAGAGAAGGGGGATCTTA	0.532000													7	23					0	0	0.001984	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733157	52733157	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:52733157C>A	ENST00000360540.5	-	7	1234	c.828G>T	c.(826-828)agG>agT	p.R276S	PCMTD1_ENST00000544451.1_Missense_Mutation_p.R200S|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R276S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	276						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCTTTCTTTTCCTTTTGGGTG	0.408000													12	180					4.93089e-13	1.03263e-12	0.002450	1	0
VSIG8	391123	broad.mit.edu	37	1	159827966	159827966	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:159827966T>C	ENST00000368100.1	-	3	479	c.344A>G	c.(343-345)aAc>aGc	p.N115S	RP11-190A12.7_ENST00000544342.1_3'UTR	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	115	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					TACCTGCAGGTTCATGAGGTT	0.557000													60	51					0	0	0.003610	0	0
NPAS3	64067	broad.mit.edu	37	14	34270275	34270275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:34270275G>A	ENST00000346562.2	+	11	2740	c.2666G>A	c.(2665-2667)gGc>gAc	p.G889D	NPAS3_ENST00000551492.1_Missense_Mutation_p.G926D|NPAS3_ENST00000548645.1_Missense_Mutation_p.G891D|NPAS3_ENST00000357798.5_Missense_Mutation_p.G908D|NPAS3_ENST00000356141.4_Missense_Mutation_p.G921D	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	921					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)		TACAGCAACGGCATCCACGCG	0.682000													3	5					0	0	0.004672	0	0
PCDH15	65217	broad.mit.edu	37	10	55663086	55663086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:55663086G>A	ENST00000373965.2	-	27	3833	c.3439C>T	c.(3439-3441)Cat>Tat	p.H1147Y	PCDH15_ENST00000320301.6_Missense_Mutation_p.H1140Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.H1140Y|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.H1145Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.H1118Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.H1140Y|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.H1147Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.H1069Y|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.H1103Y|PCDH15_ENST00000409834.1_Missense_Mutation_p.H751Y|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.H1140Y|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1140	Cadherin 11.				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)				ACTGGGGGATGATTATTTTCA	0.368000										HNSCC(58;0.16)			5	27					0	0	0.001168	0	0
KIAA1429	25962	broad.mit.edu	37	8	95518884	95518884	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:95518884G>A	ENST00000297591.5	-	16	4016	c.3941C>T	c.(3940-3942)tCc>tTc	p.S1314F	KIAA1429_ENST00000437199.1_Missense_Mutation_p.S1314F	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1314					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TAGAGAATTGGAGAGCTGCTC	0.398000													37	56					0	0	0.001485	0	0
CCDC28A	25901	broad.mit.edu	37	6	139109522	139109522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:139109522C>T	ENST00000332797.6	+	5	922	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	256										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TTGAATTCTTCCATGTATCCT	0.229000													12	41					0	0	0.002450	0	0
OR51B6	390058	broad.mit.edu	37	11	5373580	5373580	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5373580C>T	ENST00000380219.1	+	1	843	c.843C>T	c.(841-843)ttC>ttT	p.F281F	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F281F(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTCCTTTTCCCACCTTTTA	0.383000													20	42					0	0	0.000958	0	0
CSF2RA	1438	broad.mit.edu	37	X	1424358	1424358	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:1424358C>T	ENST00000381524.3	+	12	1249	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	CSF2RA_ENST00000355805.2_Silent_p.G222G|CSF2RA_ENST00000501036.2_Silent_p.L222L|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Silent_p.L355L|CSF2RA_ENST00000381509.3_Silent_p.L355L|CSF2RA_ENST00000432318.2_Silent_p.L355L|CSF2RA_ENST00000381500.1_Silent_p.G322G|CSF2RA_ENST00000417535.2_Silent_p.L389L|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000361536.3_Silent_p.G322G			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	355						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GATACAGCGGCTGTTCCCGCC	0.537000													40	78					0	0	0.001951	0	0
LPIN3	64900	broad.mit.edu	37	20	39986637	39986637	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:39986637C>A	ENST00000373257.3	+	17	2246	c.2155C>A	c.(2155-2157)Ctt>Att	p.L719I	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	719	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGGCCCCATCCTTCTGTCTCC	0.662000													16	36					1.45105e-14	3.04284e-14	0.006122	1	0
RAI1	10743	broad.mit.edu	37	17	17701531	17701531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:17701531C>T	ENST00000353383.1	+	3	5738	c.5269C>T	c.(5269-5271)Cct>Tct	p.P1757S	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1757						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCCCCCCAGGCCTGACGGCCC	0.701000													7	7					0	0	0.004482	0	0
ESYT3	83850	broad.mit.edu	37	3	138184193	138184193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:138184193G>A	ENST00000389567.4	+	10	1285	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	367	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CATGGTGTACGAAGTCCCTGG	0.557000													50	122					0	0	0.003610	0	0
TMBIM4	51643	broad.mit.edu	37	12	66531946	66531946	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:66531946A>G	ENST00000358230.3	-	7	631	c.510_splice	c.e7-1	p.F171_splice	TMBIM4_ENST00000542724.1_Splice_Site_p.F140_splice|TMBIM4_ENST00000286424.7_Splice_Site_p.F218_splice|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000398033.4_Splice_Site_p.G155_splice	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	171						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TAAAAAAAAAACTATAGGGAA	0.338000													4	20					0	0	0.000248	0	0
MTUS2	23281	broad.mit.edu	37	13	29600623	29600623	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:29600623G>A	ENST00000431530.3	+	1	1876	c.1818G>A	c.(1816-1818)ggG>ggA	p.G606G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	596						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCCCCAGTGGGATCCCCAAGC	0.532000													9	23					0	0	0.000443	0	0
HSPG2	3339	broad.mit.edu	37	1	22173852	22173852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:22173852G>A	ENST00000374695.3	-	62	8238	c.8159C>T	c.(8158-8160)cCc>cTc	p.P2720L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2720	Ig-like C2-type 12.				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)	CTCACCGGAGGGGCTGCCGGC	0.607000													23	19					0	0	0.001271	0	0
DICER1	23405	broad.mit.edu	37	14	95556999	95556999	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:95556999G>A	ENST00000526495.1	-	29	5896	c.5603_splice	c.e29-1	p.P1869_splice	DICER1_ENST00000556045.1_Splice_Site_p.P767_splice|DICER1_ENST00000393063.1_Splice_Site_p.P1869_splice|DICER1_ENST00000541352.1_Splice_Site_p.A1814_splice|DICER1_ENST00000527414.1_Splice_Site_p.P1869_splice|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000343455.3_Splice_Site_p.P1869_splice			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1869	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTCTCAGCCGGGCTGTAAAAA	0.428000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				56	66					0	0	0.003610	0	0
MKRN3	7681	broad.mit.edu	37	15	23812438	23812438	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:23812438C>T	ENST00000314520.3	+	1	1985	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	503						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AAGAATATTTCAATTTGATTC	0.458000													41	65					0	0	0.001706	0	0
CNOT3	4849	broad.mit.edu	37	19	54649504	54649504	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54649504C>T	ENST00000406403.1	+	7	2257	c.654C>T	c.(652-654)gaC>gaT	p.D218D	CNOT3_ENST00000221232.5_Silent_p.D218D|CNOT3_ENST00000358389.3_Silent_p.D37D			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	218					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGGACCCCGACTTCGAGGAGA	0.572000													13	38					0	0	0.004007	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448482	142448482	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142448482G>A	ENST00000422143.2	+	0	143																											GCCAAGCAGGGATATCTGTCA	0.522000													19	45					0	0	0.003954	0	0
FGFR2	2263	broad.mit.edu	37	10	123325068	123325068	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:123325068A>G	ENST00000358487.5	-	3	532	c.260T>C	c.(259-261)cTt>cCt	p.L87P	FGFR2_ENST00000351936.6_Missense_Mutation_p.L87P|FGFR2_ENST00000369060.4_Missense_Mutation_p.L87P|FGFR2_ENST00000457416.2_Missense_Mutation_p.L87P|FGFR2_ENST00000359354.2_Missense_Mutation_p.L87P|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369061.4_Missense_Mutation_p.L87P|FGFR2_ENST00000369056.1_Missense_Mutation_p.L87P|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000346997.2_Missense_Mutation_p.L87P|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	87	Ig-like C2-type 1.				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)	CTCCCCAATAAGCACTGTCCT	0.547000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				13	71					0	0	0.003163	0	0
VAT1L	57687	broad.mit.edu	37	16	77918642	77918642	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:77918642G>A	ENST00000302536.2	+	7	1173	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	340							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						AACTCATAGGGCTCTACAACC	0.483000													9	16					0	0	0.000443	0	0
ADCY8	114	broad.mit.edu	37	8	131792904	131792904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:131792904C>T	ENST00000286355.5	-	18	5580	c.3488G>A	c.(3487-3489)gGa>gAa	p.G1163E	ADCY8_ENST00000377928.3_Missense_Mutation_p.G1032E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1163					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)			TTTGATTTTTCCTTCCTGTTC	0.512000										HNSCC(32;0.087)			30	56					0	0	0.002836	0	0
HCN1	348980	broad.mit.edu	37	5	45353282	45353282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:45353282C>T	ENST00000303230.4	-	5	1354	c.1297G>A	c.(1297-1299)Gat>Aat	p.D433N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	433						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCATAGTAATCATGTATCTTC	0.338000													14	16					0	0	0.002450	0	0
GP6	51206	broad.mit.edu	37	19	55525913	55525913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:55525913G>A	ENST00000310373.3	-	8	1427	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_3'UTR	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	123					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TTGCACAGAGGATGGAACAGA	0.537000													15	60					0	0	0.004007	0	0
SRMS	6725	broad.mit.edu	37	20	62173646	62173646	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:62173646C>T	ENST00000217188.1	-	5	856	c.816G>A	c.(814-816)aaG>aaA	p.K272K		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	272	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TCTGGATCTCCTTGGCGAGGT	0.642000													22	33					0	0	0.004656	0	0
ZNF354B	117608	broad.mit.edu	37	5	178309907	178309907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:178309907C>T	ENST00000322434.3	+	5	680	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)			TACAAAAATCCTTACTGTAGA	0.313000													17	31					0	0	0.004990	0	0
CPN2	1370	broad.mit.edu	37	3	194062171	194062171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:194062171G>A	ENST00000323830.3	-	2	1350	c.1261C>T	c.(1261-1263)Cag>Tag	p.Q421*	CPN2_ENST00000429275.1_Nonsense_Mutation_p.Q421*	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	421	LRRCT.				protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CAGTAGGTCTGGATGTTCAGG	0.622000													18	22					0	0	0.006122	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509677	106509677	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:106509677G>A	ENST00000359195.3	+	2	1981	c.1671G>A	c.(1669-1671)gcG>gcA	p.A557A	PIK3CG_ENST00000440650.2_Silent_p.A557A|PIK3CG_ENST00000496166.1_Silent_p.A557A	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	557					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.A557A(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AATTGGAGGCGATCATAGCCA	0.532000													22	36					0	0	0.001882	0	0
TECPR1	25851	broad.mit.edu	37	7	97852324	97852324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:97852324C>T	ENST00000447648.2	-	21	3205	c.2906G>A	c.(2905-2907)gGc>gAc	p.G969D	TECPR1_ENST00000379795.3_Missense_Mutation_p.G971D|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	969						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						CTCCGACACGCCCAGGCGGCA	0.652000													6	13					0	0	0.003080	0	0
KCNK1	3775	broad.mit.edu	37	1	233802528	233802528	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:233802528C>T	ENST00000366621.3	+	2	711	c.543C>T	c.(541-543)atC>atT	p.I181I	KCNK1_ENST00000366620.1_Silent_p.I65I|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	181						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TGGTGGCCATCGTCCATGCCG	0.602000													50	35					0	0	0.003610	0	0
PCDH19	57526	broad.mit.edu	37	X	99605699	99605699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:99605699C>T	ENST00000373034.4	-	4	4295	c.2620G>A	c.(2620-2622)Gaa>Aaa	p.E874K	PCDH19_ENST00000420881.2_Missense_Mutation_p.E827K|PCDH19_ENST00000255531.7_Missense_Mutation_p.E827K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	874					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAATAGTTTTCAGTCTGCAAT	0.358000													18	7					0	0	0.001882	0	0
OR8K5	219453	broad.mit.edu	37	11	55927452	55927452	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:55927452G>A	ENST00000313447.1	-	1	341	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TGGCTGACAGGATGAAAAATT	0.423000													33	30					0	0	0.003271	0	0
TBX5	6910	broad.mit.edu	37	12	114832685	114832685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:114832685G>A	ENST00000310346.4	-	6	1190	c.524C>T	c.(523-525)tCc>tTc	p.S175F	TBX5_ENST00000405440.2_Missense_Mutation_p.S175F|TBX5_ENST00000349716.5_Missense_Mutation_p.S125F|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Missense_Mutation_p.S175F	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	175					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTTGTGCATGGAATTTAGAAT	0.373000													113	145					0	0	0.003610	0	0
OR51I2	390064	broad.mit.edu	37	11	5475610	5475610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5475610G>A	ENST00000341449.2	+	1	973	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGACAAAGGAAATCCGCCG	0.438000													25	123					0	0	0.004878	0	0
XIRP2	129446	broad.mit.edu	37	2	168099701	168099701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:168099701C>T	ENST00000409195.1	+	9	1888	c.1799C>T	c.(1798-1800)tCc>tTc	p.S600F	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S600F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S378F|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	425					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						GGTGATATTTCCAGGGGCATT	0.433000													7	26					0	0	0.003080	0	0
ATP5F1	515	broad.mit.edu	37	1	112002250	112002250	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:112002250A>T	ENST00000369722.3	+	6	1291	c.685A>T	c.(685-687)Aca>Tca	p.T229S	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.T168S	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	229					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGCATCTCCACACAGCAGGT	0.428000													9	15					0	0	0.000673	0	0
EPB41L2	2037	broad.mit.edu	37	6	131190962	131190962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:131190962G>A	ENST00000337057.3	-	15	2529	c.2348C>T	c.(2347-2349)cCg>cTg	p.P783L	EPB41L2_ENST00000529208.1_Missense_Mutation_p.P713L|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.P161L|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527659.1_Missense_Mutation_p.P713L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.P713L|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.P783L|EPB41L2_ENST00000527411.1_Missense_Mutation_p.P713L|EPB41L2_ENST00000392427.3_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	783					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTTGGCTGCCGGGCGGGGTTC	0.582000													51	68					0	0	0.003610	0	0
STRN3	29966	broad.mit.edu	37	14	31381349	31381349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:31381349G>A	ENST00000355683.5	-	9	1377	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S	STRN3_ENST00000357479.5_Missense_Mutation_p.P472S|STRN3_ENST00000366206.2_5'UTR	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	398					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	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;0.0124)		GTATACTTGGGATTCCATGTC	0.423000													62	61					0	0	0.003610	0	0
ABHD6	57406	broad.mit.edu	37	3	58271172	58271172	+	Missense_Mutation	SNP	C	C	A	rs139332256		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:58271172C>A	ENST00000478253.1	+	9	1330	c.829C>A	c.(829-831)Caa>Aaa	p.Q277K	ABHD6_ENST00000295962.4_Missense_Mutation_p.Q277K			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	277						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CTGGGGGAAACAAGACCAGGT	0.488000													25	41					1.74807e-11	3.65435e-11	0.002096	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762117	92762117	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:92762117G>A	ENST00000318238.4	-	5	4384	c.3168C>T	c.(3166-3168)tcC>tcT	p.S1056S	SAMD9L_ENST00000437805.1_Silent_p.S1056S|SAMD9L_ENST00000411955.1_Silent_p.S1056S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1056										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCATTAATGGGGAAAACAGAG	0.388000													14	37					0	0	0.004990	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30884430	30884430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:30884430C>T	ENST00000251071.5	-	6	1657	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.D303N|CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.D303N|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.D303N|CAPRIN2_ENST00000308433.5_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	303					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GACAGTAGATCCTTCAAGTGT	0.348000													4	42					0	0	0.000248	0	0
SGSH	6448	broad.mit.edu	37	17	78184718	78184718	+	Missense_Mutation	SNP	G	G	A	rs146494740		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:78184718G>A	ENST00000326317.6	-	8	1128	c.1042C>T	c.(1042-1044)Ctc>Ttc	p.L348F	SGSH_ENST00000534910.1_Missense_Mutation_p.L145F	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	348					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCCGGCAGGAGGGACCGGCCA	0.647000													30	48					0	0	0.001786	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149004	103149004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:103149004C>T	ENST00000295269.4	+	12	2711	c.2254C>T	c.(2254-2256)Cat>Tat	p.H752Y		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	752					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						ACCTCTGTTTCATGCAGTGGA	0.532000													11	14					0	0	0.000978	0	0
HLCS	3141	broad.mit.edu	37	21	38132083	38132083	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:38132083G>A	ENST00000399120.1	-	10	2970	c.1740C>T	c.(1738-1740)atC>atT	p.I580I	HLCS_ENST00000336648.3_Silent_p.I580I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	580					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GAACTCCGCCGATCTTCATGA	0.373000													26	64					0	0	0.002096	0	0
DNAH8	1769	broad.mit.edu	37	6	38854674	38854674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:38854674G>A	ENST00000359357.3	+	55	7970	c.7716G>A	c.(7714-7716)atG>atA	p.M2572I	DNAH8_ENST00000441566.1_Missense_Mutation_p.M2536I|DNAH8_ENST00000449981.2_Missense_Mutation_p.M2789I					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						TAGCAGCAATGATCCACCCTG	0.398000													32	35					0	0	0.002445	0	0
CDC20	991	broad.mit.edu	37	1	43825755	43825755	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:43825755C>T	ENST00000372462.1	+	4	746	c.543C>T	c.(541-543)atC>atT	p.I181I	CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Silent_p.I181I			Q12834	CDC20_HUMAN	cell division cycle 20	181					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|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	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGCCTGAAATCCGAAATGACT	0.527000													68	164					0	0	0.003610	0	0
ANKRD1	27063	broad.mit.edu	37	10	92677521	92677521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:92677521C>T	ENST00000371697.3	-	5	768	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	174					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				GCTCCAGCTTCCATTAACTTC	0.403000													12	33					0	0	0.002450	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088671	65088671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:65088671C>T	ENST00000544348.1	+	2	908	c.302C>T	c.(301-303)tCc>tTc	p.S101F	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.S101F|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.S101F			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	101					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						GACGGCCCATCCCCTCTGCTC	0.677000													10	40					0	0	0.000978	0	0
RGPD4	285190	broad.mit.edu	37	2	108488425	108488425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:108488425C>T	ENST00000408999.3	+	20	4042	c.3965C>T	c.(3964-3966)tCt>tTt	p.S1322F	RGPD4_ENST00000354986.4_Missense_Mutation_p.S1322F	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1322					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATGAAGAATCTGATGTTACT	0.398000													25	79					0	0	0.004878	0	0
DNAH5	1767	broad.mit.edu	37	5	13735333	13735333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13735333C>T	ENST00000265104.4	-	68	11772	c.11668G>A	c.(11668-11670)Gag>Aag	p.E3890K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3890					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)					AATTTGTGCTCCTCGTACAGC	0.448000									Kartagener syndrome				8	22					0	0	0.003080	0	0
UBE2G1	7326	broad.mit.edu	37	17	4192609	4192609	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:4192609G>A	ENST00000396981.2	-	4	507	c.342C>T	c.(340-342)atC>atT	p.I114I	UBE2G1_ENST00000572484.1_Silent_p.I43I	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	114					protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(4)|skin(1)	7						CCACAGTGTGGATAGGGAGCC	0.453000													5	80					0	0	0.000602	0	0
PATZ1	23598	broad.mit.edu	37	22	31740408	31740408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:31740408C>T	ENST00000266269.5	-	1	1810	c.1181G>A	c.(1180-1182)aGa>aAa	p.R394K	PATZ1_ENST00000215919.3_Missense_Mutation_p.R394K|PATZ1_ENST00000351933.4_Missense_Mutation_p.R394K|PATZ1_ENST00000405309.3_Missense_Mutation_p.R394K	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	394				R -> K (in Ref. 1; AAF32518).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GCGGTCTTTTCTCTTGAACCG	0.557000													33	59					0	0	0.002836	0	0
SPPL3	121665	broad.mit.edu	37	12	121205323	121205323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:121205323G>A	ENST00000353487.2	-	9	1350	c.847C>T	c.(847-849)Ctt>Ttt	p.L283F		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	284						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCATAGCGAAGGACAAAGCAT	0.537000													17	28					0	0	0.006122	0	0
NRXN2	9379	broad.mit.edu	37	11	64421195	64421195	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:64421195C>T	ENST00000265459.6	-	12	2851		c.e12-1		NRXN2_ENST00000409571.1_Splice_Site|NRXN2_ENST00000377551.1_Splice_Site|NRXN2_ENST00000377559.3_Intron|AP001092.4_ENST00000433606.1_RNA	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2						cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGCAGGCAGTCTGGGGGGGCC	0.582000													4	15					0	0	0.000602	0	0
USP17L2	377630	broad.mit.edu	37	8	11994778	11994778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:11994778C>T	ENST00000333796.3	-	1	1808	c.1492G>A	c.(1492-1494)Gag>Aag	p.E498K	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	498					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTCACGGACTCCTGATCTGTC	0.512000													6	103					0	0	0.001168	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883626	228883626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:228883626C>T	ENST00000392056.3	-	7	1990	c.1944G>A	c.(1942-1944)atG>atA	p.M648I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.M648I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	648						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)		AAGCAGTTTCCATGATTCTCC	0.468000													16	61					0	0	0.004007	0	0
TENM1	10178	broad.mit.edu	37	X	123699397	123699397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:123699397C>T	ENST00000422452.2	-	12	2154	c.2091G>A	c.(2089-2091)atG>atA	p.M697I	TENM1_ENST00000371130.3_Missense_Mutation_p.M697I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TACCACACTCCATGGTACACA	0.408000													5	1					0	0	0.000602	0	0
ANK2	287	broad.mit.edu	37	4	114276594	114276594	+	Missense_Mutation	SNP	C	C	T	rs140258681		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:114276594C>T	ENST00000357077.4	+	38	6873	c.6820C>T	c.(6820-6822)Cgt>Tgt	p.R2274C	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R2241C|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2241					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)		CACAGAAATTCGTTCAGAAAA	0.478000													16	16					0	0	0.003163	0	0
DPPA5	340168	broad.mit.edu	37	6	74063871	74063871	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:74063871G>T	ENST00000370370.3	-	1	147	c.78C>A	c.(76-78)ttC>ttA	p.F26L		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	26	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						TCTGGACCTGGAACACCTCTG	0.602000													14	35					3.41278e-10	7.12187e-10	0.004990	1	0
TLR5	7100	broad.mit.edu	37	1	223285675	223285675	+	Silent	SNP	A	A	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:223285675A>C	ENST00000540964.1	-	4	1160	c.699T>G	c.(697-699)gtT>gtG	p.V233V	TLR5_ENST00000342210.6_Silent_p.V233V			O60602	TLR5_HUMAN	toll-like receptor 5	233					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CATTTCCAGAAACATCTAGTA	0.458000													64	57					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	8997151	8997151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:8997151G>A	ENST00000397910.4	-	60	41248	c.41045C>T	c.(41044-41046)cCt>cTt	p.P13682L	MUC16_ENST00000380951.5_Missense_Mutation_p.P323L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13684	SEA 11.			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						AGAGTACAGAGGGCCAACACT	0.552000													16	45					0	0	0.001523	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724050	7724050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:7724050G>A	ENST00000303635.7	+	9	1650	c.1443G>A	c.(1441-1443)atG>atA	p.M481I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.M481I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	481					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)		AAACCACCATGAACTTTGACC	0.592000			T	WWTR1	epitheliod hemangioendothelioma								34	28					0	0	0.003271	0	0
PTH2R	5746	broad.mit.edu	37	2	209358047	209358047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:209358047G>A	ENST00000272847.2	+	13	1529	c.1316G>A	c.(1315-1317)aGg>aAg	p.R439K	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	439						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GACTGGAAAAGGACACCGCCA	0.587000													14	29					0	0	0.002450	0	0
RGS22	26166	broad.mit.edu	37	8	101075804	101075804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:101075804C>T	ENST00000360863.6	-	8	1386	c.1192G>A	c.(1192-1194)Gcg>Acg	p.A398T	RGS22_ENST00000523287.1_Missense_Mutation_p.A217T|RGS22_ENST00000523437.1_Missense_Mutation_p.A386T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	398					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)			CACCAGTCCGCCCTGCTCTCT	0.363000													25	68					0	0	0.005443	0	0
PARP14	54625	broad.mit.edu	37	3	122405958	122405958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:122405958C>T	ENST00000474629.2	+	3	619	c.353C>T	c.(352-354)cCa>cTa	p.P118L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GTTAAAGAACCAGGTAAAATC	0.363000													5	11					0	0	0.000602	0	0
WNT3A	89780	broad.mit.edu	37	1	228238512	228238512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:228238512G>A	ENST00000284523.1	+	3	547	c.469G>A	c.(469-471)Gag>Aag	p.E157K	WNT3A_ENST00000366753.2_Missense_Mutation_p.E157K	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	157					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TGGCTGTAGCGAGGACATCGA	0.652000													44	29					0	0	0.003610	0	0
QTRT1	81890	broad.mit.edu	37	19	10823442	10823442	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:10823442C>T	ENST00000250237.5	+	8	880	c.870C>T	c.(868-870)ggC>ggT	p.G290G		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	290					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)			AGCGCTTTGGCTCTGCCCTGG	0.632000													49	72					0	0	0.003610	0	0
ITIH6	347365	broad.mit.edu	37	X	54783974	54783974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:54783974G>A	ENST00000218436.6	-	8	2562	c.2533C>T	c.(2533-2535)Ctc>Ttc	p.L845F		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	845	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TTGGACAAGAGGATTCCAGGC	0.498000													31	17					0	0	0.002096	0	0
PAMR1	25891	broad.mit.edu	37	11	35463052	35463052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:35463052C>T	ENST00000378880.2	-	7	1455	c.1010G>A	c.(1009-1011)gGg>gAg	p.G337E	PAMR1_ENST00000532848.1_Missense_Mutation_p.G297E|PAMR1_ENST00000278360.3_Missense_Mutation_p.G354E|PAMR1_ENST00000378878.3_Missense_Mutation_p.G226E	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	337	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGGCTGTTTCCCTGACCACTC	0.408000													22	85					0	0	0.001882	0	0
GPR32	2854	broad.mit.edu	37	19	51274318	51274318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:51274318C>T	ENST00000270590.4	+	1	598	c.461C>T	c.(460-462)aCt>aTt	p.T154I		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	154						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AACCACCGCACTGTGCAGCGG	0.597000													39	54					0	0	0.005524	0	0
ZNF454	285676	broad.mit.edu	37	5	178392033	178392033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:178392033C>T	ENST00000320129.3	+	5	931	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	ZNF454_ENST00000519564.1_Missense_Mutation_p.H210Y	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	210					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)		TCAGAAAATTCATATTAAGGA	0.358000													22	30					0	0	0.001882	0	0
C3orf20	84077	broad.mit.edu	37	3	14801436	14801436	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:14801436G>A	ENST00000253697.3	+	14	2735	c.2283G>A	c.(2281-2283)ctG>ctA	p.L761L	C3orf20_ENST00000412910.1_Silent_p.L639L|C3orf20_ENST00000435614.1_Silent_p.L639L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	761						cytoplasm|integral to membrane		p.L761L(1)|p.D762Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGTATGACCTGGACAGCCCCC	0.562000													13	62					0	0	0.002450	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458068	20458068	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:20458068G>A	ENST00000426804.1	-	1	3718	c.3234C>T	c.(3232-3234)ttC>ttT	p.F1078F		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGAGTGTGTCGAAGGTGACGG	0.662000													5	29					0	0	0.000602	0	0
RBPMS	11030	broad.mit.edu	37	8	30332344	30332344	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:30332344A>G	ENST00000320203.4	+	2	698	c.116A>G	c.(115-117)gAg>gGg	p.E39G	RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000287771.5_Missense_Mutation_p.E39G|RBPMS_ENST00000397323.4_Missense_Mutation_p.E39G|RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000517860.1_Missense_Mutation_p.E39G|RBPMS_ENST00000538486.1_Missense_Mutation_p.E39G|RBPMS_ENST00000339877.4_Missense_Mutation_p.E39G|RBPMS_ENST00000520191.1_5'UTR	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	39	RRM.				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		AAACCTCGGGAGCTCTATCTG	0.403000													38	112					0	0	0.003610	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106830011	106830011	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:106830011C>T	ENST00000390616.2	-	0	65																											GAGGAAGAACCACAGGTGTTT	0.502000													8	36					0	0	0.004482	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360048	149360048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:149360048C>T	ENST00000286298.4	+	3	1160	c.892C>T	c.(892-894)Cat>Tat	p.H298Y		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	298						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGAAACATCCATAAGACCAA	0.438000													24	43					0	0	0.003954	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74714432	74714432	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:74714432G>A	ENST00000373032.3	-	1	104	c.12C>T	c.(10-12)gcC>gcT	p.A4A		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	4					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					AGAAGCCACTGGCCAGCTTCA	0.602000													13	30					0	0	0.002450	0	0
TSPAN17	26262	broad.mit.edu	37	5	176078761	176078761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:176078761C>T	ENST00000405525.2	+	3	374	c.145C>T	c.(145-147)Ctc>Ttc	p.L49F	TSPAN17_ENST00000508164.1_Missense_Mutation_p.L49F|TSPAN17_ENST00000503045.1_Missense_Mutation_p.L49F|TSPAN17_ENST00000515708.1_Missense_Mutation_p.L49F|TSPAN17_ENST00000310032.8_Missense_Mutation_p.L49F|TSPAN17_ENST00000298564.10_Intron	NM_001006616.2	NP_001006617.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	49						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGGCGTTCTCTCGAACAT	0.632000													33	42					0	0	0.004878	0	0
CLCN1	1180	broad.mit.edu	37	7	143048913	143048913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:143048913C>T	ENST00000343257.2	+	23	2909	c.2822C>T	c.(2821-2823)tCc>tTc	p.S941F		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	941					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCCCTCTCTCCCTGGCCCCA	0.657000													18	33					0	0	0.004990	0	0
C1orf101	257044	broad.mit.edu	37	1	244736006	244736006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:244736006C>T	ENST00000366534.4	+	11	1936	c.1882C>T	c.(1882-1884)Cca>Tca	p.P628S	C1orf101_ENST00000366531.3_Missense_Mutation_p.P477S|C1orf101_ENST00000366533.4_Missense_Mutation_p.P628S|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	628						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATCTTATGGCCCAAAAATATT	0.368000													37	34					0	0	0.001485	0	0
GHDC	84514	broad.mit.edu	37	17	40344262	40344262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:40344262C>T	ENST00000301671.8	-	4	1327	c.886G>A	c.(886-888)Gga>Aga	p.G296R	GHDC_ENST00000414034.3_Missense_Mutation_p.G296R|GHDC_ENST00000436923.2_Missense_Mutation_p.G296R|GHDC_ENST00000593209.1_Missense_Mutation_p.G296R|GHDC_ENST00000428494.2_Missense_Mutation_p.G257R|GHDC_ENST00000587427.1_Missense_Mutation_p.G296R			Q8N2G8	GHDC_HUMAN	GH3 domain containing	296						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CACTGACCTCCCGAGGCAGCA	0.587000													12	119					0	0	0.001855	0	0
MYF6	4618	broad.mit.edu	37	12	81101868	81101868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:81101868C>T	ENST00000228641.3	+	1	592	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	124	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TGTGGCCAACCCCAACCAGAG	0.607000													17	31					0	0	0.001216	0	0
TMEM205	374882	broad.mit.edu	37	19	11453514	11453514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:11453514C>T	ENST00000354882.5	-	3	973	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	TMEM205_ENST00000586218.1_Missense_Mutation_p.A122T|TMEM205_ENST00000588560.1_Missense_Mutation_p.A183T|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000586590.1_Missense_Mutation_p.A183T|TMEM205_ENST00000587948.1_Missense_Mutation_p.A183T|TMEM205_ENST00000593256.2_Missense_Mutation_p.A183T|TMEM205_ENST00000589555.1_Missense_Mutation_p.A183T|TMEM205_ENST00000447337.1_Missense_Mutation_p.A183T|TMEM205_ENST00000586956.1_Missense_Mutation_p.A183T			Q6UW68	TM205_HUMAN	transmembrane protein 205	183						integral to membrane				endometrium(1)|lung(1)	2						ATTTCCAGGGCAAGGCCAGCG	0.527000													22	130					0	0	0.003954	0	0
MARS	4141	broad.mit.edu	37	12	57894287	57894287	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:57894287C>T	ENST00000262027.5	+	10	1409	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Silent_p.I191I	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	425					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCAAGCTCATCAATGCTGTCG	0.562000													8	33					0	0	0.004482	0	0
CA2	760	broad.mit.edu	37	8	86385958	86385958	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:86385958T>C	ENST00000285379.5	+	3	499	c.269T>C	c.(268-270)tTg>tCg	p.L90S		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	90					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ACTTACAGATTGATTCAGTTT	0.338000													17	34					0	0	0.001216	0	0
DSEL	92126	broad.mit.edu	37	18	65180090	65180090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:65180090G>A	ENST00000310045.7	-	2	3259	c.1786C>T	c.(1786-1788)Cat>Tat	p.H596Y	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	586						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTCTCAATATGATCAACAACT	0.358000													17	31					0	0	0.004990	0	0
ADAM18	8749	broad.mit.edu	37	8	39525702	39525702	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:39525702G>A	ENST00000265707.5	+	14	1557	c.1512G>A	c.(1510-1512)aaG>aaA	p.K504K	ADAM18_ENST00000379866.1_Silent_p.K480K|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	504	Cys-rich.				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)			AGTGTGCCAAGATATTTGGAA	0.388000													15	52					0	0	0.003163	0	0
ARMC5	79798	broad.mit.edu	37	16	31471177	31471177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:31471177C>T	ENST00000457010.2	+	1	1033	c.332C>T	c.(331-333)cCc>cTc	p.P111L	ARMC5_ENST00000538189.1_Missense_Mutation_p.P143L|ARMC5_ENST00000268314.4_Missense_Mutation_p.P111L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P206L|ARMC5_ENST00000563544.1_Missense_Mutation_p.P111L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	111							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ggccccgcccccTCCGCTGTG	0.741000													3	7					0	0	0.004672	0	0
PRKCA	5578	broad.mit.edu	37	17	64734896	64734896	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:64734896C>T	ENST00000413366.3	+	11	1271	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	415	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GGCTGTACTTCGTCATGGAAT	0.463000													39	56					0	0	0.003610	0	0
KMT2B	9757	broad.mit.edu	37	19	36212370	36212370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:36212370C>T	ENST00000341701.1	+	4	1688	c.1688C>T	c.(1687-1689)tCg>tTg	p.S563L	WBP7_ENST00000420124.1_Silent_p.F707F|WBP7_ENST00000222270.7_Silent_p.F707F|KMT2B_ENST00000607650.1_RNA																							TGCCTCGATTCGCCCCTGTGG	0.662000													6	19					0	0	0.001168	0	0
FCGBP	8857	broad.mit.edu	37	19	40368805	40368805	+	Silent	SNP	C	C	T	rs140207614		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:40368805C>T	ENST00000221347.6	-	28	12550	c.12543G>A	c.(12541-12543)tcG>tcA	p.S4181S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4181	VWFD 10.					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)			GCAGTGCCTTCGATGCACCCT	0.622000													50	185					0	0	0.003610	0	0
GLTPD2	388323	broad.mit.edu	37	17	4692404	4692404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:4692404G>A	ENST00000331264.7	+	1	151	c.98G>A	c.(97-99)cGg>cAg	p.R33Q		NM_001014985.2	NP_001014985.2			glycolipid transfer protein domain containing 2											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						CTCAGTGTTCGGAGCCTAGGT	0.642000													9	3					0	0	0.000673	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697618	17697618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:17697618G>A	ENST00000399080.2	-	1	2088	c.2065C>T	c.(2065-2067)Ccc>Tcc	p.P689S		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	689										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)					ATTAAAAGGGGAATTTTTTCA	0.294000													29	42					0	0	0.001512	0	0
ABCA9	10350	broad.mit.edu	37	17	66981089	66981089	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:66981089G>T	ENST00000340001.4	-	34	4527	c.4316C>A	c.(4315-4317)cCg>cAg	p.P1439Q	ABCA9_ENST00000370732.2_Intron|ABCA9_ENST00000453985.2_Missense_Mutation_p.P1401Q	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1439	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.P1439Q(1)		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)					CACCACTGACGGGTTCCCCAG	0.592000													5	91					0.00116845	0.00241915	0.001168	1	0
PTCH2	8643	broad.mit.edu	37	1	45296630	45296630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:45296630G>A	ENST00000447098.2	-	6	714	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	PTCH2_ENST00000372192.3_Missense_Mutation_p.R235W	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	235					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)					AGCAGCTCCCGGAAGCCCTCA	0.647000									Basal Cell Nevus syndrome				20	22					0	0	0.001882	0	0
KDM5B	10765	broad.mit.edu	37	1	202719899	202719899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:202719899C>T	ENST00000367265.3	-	13	2873	c.1709G>A	c.(1708-1710)cGa>cAa	p.R570Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.R606Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	570	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGATTAGTTCGGTAAACCTA	0.363000													57	72					0	0	0.003610	0	0
SERF2	10169	broad.mit.edu	37	15	44092743	44092743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:44092743C>T	ENST00000594896.1	+	3	200	c.85C>T	c.(85-87)Cct>Tct	p.P29S	SERF2_ENST00000600633.1_5'UTR|HYPK_ENST00000498605.1_3'UTR|HYPK_ENST00000442995.2_5'UTR|HYPK_ENST00000406925.1_5'UTR			P84101	SERF2_HUMAN	small EDRK-rich factor 2	0						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		AGCCCCGCCTCCTCCCCGGGC	0.612000													6	6					0	0	0.001168	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238671681	238671681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:238671681C>T	ENST00000244815.5	+	10	1493	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.P386L|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.P442L|LRRFIP1_ENST00000308482.9_Intron	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	442			N -> S (in dbSNP:rs2001301).		negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GCCTCGTGTCCTTTAGGGCAT	0.483000													17	72					0	0	0.001523	0	0
SLC2A14	144195	broad.mit.edu	37	12	7973829	7973829	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:7973829G>A	ENST00000543909.1	-	13	1785	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	SLC2A14_ENST00000535295.1_Silent_p.F233F|SLC2A14_ENST00000431042.2_Silent_p.F319F|SLC2A14_ENST00000340749.5_Silent_p.F319F|SLC2A14_ENST00000542546.1_Silent_p.F233F|SLC2A14_ENST00000396589.2_Silent_p.F342F|SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000539924.1_Silent_p.F357F			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	342					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AAAGTAAAGTGAAGATAGTAT	0.428000													42	82					0	0	0.002852	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002945	52002945	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:52002945G>A	ENST00000291707.3	-	3	889	c.834C>T	c.(832-834)tcC>tcT	p.S278S	SIGLEC12_ENST00000598614.1_Silent_p.S160S	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	278	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCCCGGGATGGAGAAGGTGG	0.632000													30	38					0	0	0.004289	0	0
CDH12	1010	broad.mit.edu	37	5	21802340	21802340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:21802340G>A	ENST00000382254.1	-	10	2278	c.1192C>T	c.(1192-1194)Ccg>Tcg	p.P398S	CDH12_ENST00000522262.1_Missense_Mutation_p.P358S|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.P398S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	398	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTCCCTACCGGAGTGTCTTCA	0.483000										HNSCC(59;0.17)			7	27					0	0	0.004482	0	0
POGZ	23126	broad.mit.edu	37	1	151400343	151400343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:151400343G>A	ENST00000271715.2	-	7	1348	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	POGZ_ENST00000531094.1_Missense_Mutation_p.A283V|POGZ_ENST00000491586.1_Missense_Mutation_p.A292V|POGZ_ENST00000409503.1_Missense_Mutation_p.A336V|POGZ_ENST00000392723.1_Missense_Mutation_p.A292V|POGZ_ENST00000368863.2_Missense_Mutation_p.A250V|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000361398.3_Missense_Mutation_p.A292V	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	345					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGAGCCATGAGCAGAGCTGTT	0.468000													11	23					0	0	0.000978	0	0
SENP1	29843	broad.mit.edu	37	12	48477454	48477454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:48477454G>A	ENST00000004980.5	-	6	950	c.472C>T	c.(472-474)Cca>Tca	p.P158S	SENP1_ENST00000551330.1_Missense_Mutation_p.P158S|SENP1_ENST00000549518.1_Missense_Mutation_p.P158S|SENP1_ENST00000448372.1_Missense_Mutation_p.P158S|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549595.1_Missense_Mutation_p.P158S|SENP1_ENST00000547886.1_5'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	158	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTCCAAGATGGACTTGGAACA	0.403000													37	43					0	0	0.004878	0	0
MTMR7	9108	broad.mit.edu	37	8	17188682	17188682	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:17188682T>C	ENST00000180173.5	-	7	876	c.842A>G	c.(841-843)aAc>aGc	p.N281S	MTMR7_ENST00000521857.1_Missense_Mutation_p.N281S	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	281	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CTGCAGACTGTTCCTCATGAC	0.378000													20	45					0	0	0.002780	0	0
WNT7A	7476	broad.mit.edu	37	3	13896123	13896123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:13896123C>T	ENST00000285018.4	-	3	780	c.476G>A	c.(475-477)gGc>gAc	p.G159D		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	159					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						GAAGCCGATGCCGTAGCGGAT	0.602000													49	99					0	0	0.003610	0	0
FREM1	158326	broad.mit.edu	37	9	14770702	14770702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:14770702G>A	ENST00000380881.4	-	27	5778	c.4963C>T	c.(4963-4965)Cgc>Tgc	p.R1655C	FREM1_ENST00000380894.1_Missense_Mutation_p.R190C|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Missense_Mutation_p.R1654C|FREM1_ENST00000380880.3_Missense_Mutation_p.R1654C			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1654					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.R67S(1)|p.R1655S(1)		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)		TTCAACACGCGGGAAGTGATG	0.473000													12	5					0	0	0.003163	0	0
GPR174	84636	broad.mit.edu	37	X	78427485	78427485	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:78427485C>T	ENST00000276077.1	+	1	1017	c.981C>T	c.(979-981)acC>acT	p.T327T		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	327						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CAGCTTCCACCATGACACCTG	0.408000										HNSCC(63;0.18)			12	8					0	0	0.001368	0	0
HPN	3249	broad.mit.edu	37	19	35551364	35551364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:35551364G>A	ENST00000262626.2	+	8	1393	c.568G>A	c.(568-570)Gga>Aga	p.G190R	HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Missense_Mutation_p.G190R	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	190	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCTCTGTGGGGGATCCCTGCT	0.677000													15	66					0	0	0.001523	0	0
ZNF382	84911	broad.mit.edu	37	19	37118051	37118051	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:37118051A>C	ENST00000435416.1	+	3	2744	c.1249A>C	c.(1249-1251)Atc>Ctc	p.I417L	ZNF382_ENST00000423582.1_Missense_Mutation_p.I369L|ZNF382_ENST00000439428.1_Missense_Mutation_p.I417L|ZNF382_ENST00000292928.2_Missense_Mutation_p.I418L			Q96SR6	ZN382_HUMAN	zinc finger protein 382	418	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAAGGCATTTATCCAGAAGAC	0.448000													22	37					0	0	0.004656	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98416563	98416563	+	Missense_Mutation	SNP	G	G	A	rs148582013		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:98416563G>A	ENST00000339364.5	-	3	678	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R9C	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	187	DBB.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACCCCACAGCGAATGCGGTCC	0.547000													30	53					0	0	0.002836	0	0
LILRA4	23547	broad.mit.edu	37	19	54849227	54849227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54849227G>A	ENST00000291759.4	-	4	691	c.635C>T	c.(634-636)cCc>cTc	p.P212L		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	212	Ig-like C2-type 2.					integral to membrane	receptor activity	p.P212L(1)		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)		TAGCTGCAGGGGGTCACTGGG	0.567000													16	24					0	0	0.006122	0	0
ABCA10	10349	broad.mit.edu	37	17	67152008	67152008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:67152008C>T	ENST00000269081.4	-	30	4423	c.3514G>A	c.(3514-3516)Gaa>Aaa	p.E1172K	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1172					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)					TGAACATCTTCATCTTCTTCT	0.428000													60	75					0	0	0.003610	0	0
PCSK4	54760	broad.mit.edu	37	19	1487857	1487857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:1487857G>A	ENST00000300954.5	-	5	581	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S	PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	174	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		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)		CTGGCCAGGGGGTCCTGGGGG	0.701000													6	8					0	0	0.001168	0	0
FILIP1	27145	broad.mit.edu	37	6	76022573	76022573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:76022573G>A	ENST00000393004.2	-	5	3196	c.2975C>T	c.(2974-2976)cCa>cTa	p.P992L	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.P992L|FILIP1_ENST00000370020.1_Missense_Mutation_p.P893L			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	992										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						TCCACTTTCTGGAGTCTTCTC	0.473000													18	63					0	0	0.001523	0	0
SLC12A5	57468	broad.mit.edu	37	20	44678403	44678403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:44678403C>T	ENST00000454036.1	+	17	2300	c.2224C>T	c.(2224-2226)Cat>Tat	p.H742Y	SLC12A5_ENST00000243964.3_Missense_Mutation_p.H719Y	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	742					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)	TCTGGAAAATCATCCACAGGC	0.577000													6	9					0	0	0.001984	0	0
KRT72	140807	broad.mit.edu	37	12	52992684	52992684	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:52992684C>T	ENST00000293745.2	-	2	724	c.639G>A	c.(637-639)aaG>aaA	p.K213K	KRT72_ENST00000537672.2_Silent_p.K213K|KRT72_ENST00000398066.3_Silent_p.K25K|KRT72_ENST00000354310.4_Silent_p.K213K	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	213	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCACTCACCTCTTCTTGTAGT	0.512000													22	69					0	0	0.002780	0	0
SULF1	23213	broad.mit.edu	37	8	70570767	70570767	+	Silent	SNP	T	T	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:70570767T>G	ENST00000260128.4	+	23	3330	c.2613T>G	c.(2611-2613)ggT>ggG	p.G871G	SULF1_ENST00000419716.3_Silent_p.G871G|SULF1_ENST00000458141.2_Silent_p.G871G|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Silent_p.G871G	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	871					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GATGGGAAGGTTAATCAGCCC	0.438000													21	41					0	0	0.003954	0	0
ETHE1	23474	broad.mit.edu	37	19	44015618	44015618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:44015618C>T	ENST00000600651.1	-	4	499	c.476G>A	c.(475-477)cGt>cAt	p.R159H	ETHE1_ENST00000292147.2_Missense_Mutation_p.R159H			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	159						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				CCCACACCCACGGATCAACAG	0.552000													8	50					0	0	0.000673	0	0
SLC17A6	57084	broad.mit.edu	37	11	22382448	22382448	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:22382448G>A	ENST00000263160.3	+	5	1016	c.579G>A	c.(577-579)gtG>gtA	p.V193V		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	193					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CACAGGGTGTGACCTACCCAG	0.493000													11	25					0	0	0.002450	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054004	95054004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:95054004G>A	ENST00000329597.7	+	3	515	c.305G>A	c.(304-306)aGc>aAc	p.S102N	SERPINA5_ENST00000554866.1_Missense_Mutation_p.S102N|SERPINA5_ENST00000554276.1_Missense_Mutation_p.S102N|SERPINA5_ENST00000553780.1_Missense_Mutation_p.S102N	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	102					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTCCAGAAAAGCTCAGAGAAG	0.592000													4	23					0	0	0.000248	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991715	52991715	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:52991715G>T	ENST00000371544.3	-	2	500	c.238C>A	c.(238-240)Ctt>Att	p.L80I	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L80I|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.L80I	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	80					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGACCTGGAAGGTTGGCAGCA	0.348000													70	145					2.67039e-37	5.63221e-37	0.003610	1	0
PLEKHH1	57475	broad.mit.edu	37	14	68044784	68044784	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:68044784G>A	ENST00000329153.5	+	19	2751	c.2619G>A	c.(2617-2619)gtG>gtA	p.V873V		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	873	MyTH4.					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)		CTGCCTCGGTGGACTACCATG	0.602000													11	48					0	0	0.000673	0	0
OR5K4	403278	broad.mit.edu	37	3	98072952	98072952	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:98072952C>T	ENST00000354924.2	+	1	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TAGAGAATTTCTTTTCTGAGG	0.433000													76	144					0	0	0.003610	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350649	135350649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:135350649G>A	ENST00000463117.2	+	9	1322	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.M350I			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	350					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|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			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		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)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TGCCCTACATGGATGCTGTGG	0.522000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				13	45					0	0	0.001368	0	0
ME1	4199	broad.mit.edu	37	6	83947495	83947495	+	Missense_Mutation	SNP	G	G	A	rs142932433		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:83947495G>A	ENST00000369705.3	-	9	1083	c.967C>T	c.(967-969)Cca>Tca	p.P323S	ME1_ENST00000543031.1_Missense_Mutation_p.P248S|ME1_ENST00000541327.1_Missense_Mutation_p.P157S	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	323					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TTCTCTTTTGGTAAACCTTCT	0.338000													13	20					0	0	0.006122	0	0
FMNL1	752	broad.mit.edu	37	17	43323944	43323944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:43323944G>A	ENST00000331495.3	+	26	3620	c.3284G>A	c.(3283-3285)gGa>gAa	p.G1095E	CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000587489.1_Intron|FMNL1_ENST00000328118.3_Intron	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	1095					actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCCAGCCTGGGAGAAGAGATG	0.657000											OREG0024478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	27					0	0	0.002450	0	0
GPR98	84059	broad.mit.edu	37	5	90106233	90106233	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:90106233G>A	ENST00000405460.2	+	74	15252	c.15156G>A	c.(15154-15156)ctG>ctA	p.L5052L	GPR98_ENST00000425867.2_Silent_p.L713L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5052					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)		CCAAGCCACTGGAAGATTTTG	0.373000													14	24					0	0	0.002450	0	0
AHRR	57491	broad.mit.edu	37	5	423970	423970	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:423970C>T	ENST00000316418.5	+	7	642	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	AHRR_ENST00000512529.1_Silent_p.L46L|AHRR_ENST00000506456.1_Silent_p.L56L|AHRR_ENST00000505113.1_Silent_p.L200L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGATGCTATCCTGGGGAGGCT	0.652000													8	29					0	0	0.003080	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704104	56704104	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:56704104C>T	ENST00000586855.2	-	2	631	c.318G>A	c.(316-318)gtG>gtA	p.V106V	ZSCAN5B_ENST00000358992.3_Silent_p.V106V			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	106	SCAN box.				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						GCACACCGTTCACCTTGACTA	0.547000													18	44					0	0	0.003330	0	0
ABI3	51225	broad.mit.edu	37	17	47300000	47300000	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:47300000T>A	ENST00000225941.1	+	8	1522	c.1024T>A	c.(1024-1026)Tcc>Acc	p.S342T	ABI3_ENST00000419580.2_Missense_Mutation_p.S336T	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	342	SH3.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TCGCCGCTACTCCGATGGCTG	0.602000										HNSCC(55;0.14)			8	8					0	0	0.003080	0	0
XIST	7503	broad.mit.edu	37	X	73066284	73066284	+	RNA	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:73066284A>G	ENST00000429829.1	-	0	6304					NR_001564.2																						AGACGATTATAATCACACACA	0.488000													17	8					0	0	0.006122	0	0
ZNF423	23090	broad.mit.edu	37	16	49671166	49671166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:49671166G>A	ENST00000561648.1	-	4	1950	c.1897C>T	c.(1897-1899)Cct>Tct	p.P633S	ZNF423_ENST00000562871.1_Missense_Mutation_p.P573S|ZNF423_ENST00000563137.2_Missense_Mutation_p.P573S|ZNF423_ENST00000262383.2_Missense_Mutation_p.P633S|ZNF423_ENST00000562520.1_Missense_Mutation_p.P573S|ZNF423_ENST00000567169.1_Missense_Mutation_p.P516S|ZNF423_ENST00000535559.1_Missense_Mutation_p.P516S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	633					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)				TGATTGCAAGGATACTCCCCA	0.597000													23	50					0	0	0.004656	0	0
ABCA8	10351	broad.mit.edu	37	17	66871424	66871424	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:66871424G>A	ENST00000269080.2	-	35	4625	c.4488C>T	c.(4486-4488)ttC>ttT	p.F1496F	ABCA8_ENST00000430352.2_Silent_p.F1536F|ABCA8_ENST00000586539.1_Silent_p.F1536F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1496						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAGCCTGGGGGAAAAGCCTCA	0.463000													32	53					0	0	0.003271	0	0
ABCA4	24	broad.mit.edu	37	1	94526256	94526256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:94526256G>A	ENST00000370225.3	-	14	2083	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F	ABCA4_ENST00000535735.1_Missense_Mutation_p.S666F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	666					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATGGAGACAGAGTAGATCCA	0.463000													9	30					0	0	0.004482	0	0
SMARCC1	6599	broad.mit.edu	37	3	47727614	47727614	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:47727614A>C	ENST00000254480.5	-	14	1429	c.1310T>G	c.(1309-1311)cTt>cGt	p.L437R	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	437					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ATCTTCCCCAAGGTCAACTGA	0.388000													19	48					0	0	0.001216	0	0
MUC16	94025	broad.mit.edu	37	19	9069682	9069682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9069682C>T	ENST00000397910.4	-	3	17967	c.17764G>A	c.(17764-17766)Gaa>Aaa	p.E5922K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5924	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						CTGGTTTCTTCCACAGAGGGA	0.493000													12	50					0	0	0.000978	0	0
EXO5	64789	broad.mit.edu	37	1	40980727	40980727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:40980727G>A	ENST00000372703.1	+	2	1585	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	EXO5_ENST00000296380.4_Missense_Mutation_p.E171K|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Missense_Mutation_p.E171K					exonuclease 5																		AGTGTTTGGGGAAGGGGAGGG	0.498000													53	104					0	0	0.003610	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140746159	140746159	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140746159C>T	ENST00000518069.1	+	1	2262	c.2262C>T	c.(2260-2262)tcC>tcT	p.S754S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCTATTCCCACGAGGTCT	0.597000													20	94					0	0	0.001216	0	0
ANKRD27	84079	broad.mit.edu	37	19	33119042	33119042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:33119042G>A	ENST00000306065.4	-	15	1525	c.1367C>T	c.(1366-1368)cCa>cTa	p.P456L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	456					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)					TCTGGAGAATGGAGTGACAAC	0.537000													16	77					0	0	0.006122	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459540	107459540	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:107459540G>A	ENST00000409382.3	-	2	1504	c.894C>T	c.(892-894)gtC>gtT	p.V298V	ST6GAL2_ENST00000409087.3_Silent_p.V298V|ST6GAL2_ENST00000361686.4_Silent_p.V298V	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	298					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						CAGACATGACGACAGCGCAGC	0.687000													9	14					0	0	0.001368	0	0
TYRO3	7301	broad.mit.edu	37	15	41854852	41854852	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:41854852C>T	ENST00000263798.3	+	4	740	c.516C>T	c.(514-516)gtC>gtT	p.V172V	TYRO3_ENST00000559066.1_Silent_p.V127V	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	172	Ig-like C2-type 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TTACCATTGTCTGGTGGAGAG	0.542000													17	22					0	0	0.006122	0	0
RASSF4	83937	broad.mit.edu	37	10	45487389	45487389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:45487389G>A	ENST00000334940.6	+	10	1005	c.871G>A	c.(871-873)Gac>Aac	p.D291N	RASSF4_ENST00000340258.4_Missense_Mutation_p.D282N|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000374417.2_3'UTR			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	282	SARAH.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCCGGTGCTGGACAGTTTTGT	0.358000													22	74					0	0	0.005443	0	0
VLDLR	7436	broad.mit.edu	37	9	2647525	2647525	+	Silent	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:2647525A>G	ENST00000382100.2	+	12	2111	c.1755A>G	c.(1753-1755)ggA>ggG	p.G585G	VLDLR_ENST00000478776.1_3'UTR|VLDLR_ENST00000382099.2_Silent_p.G585G	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	585					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)		AAAAAGCAGGAATGAATGGAT	0.423000													12	13					0	0	0.001368	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525628	176525628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:176525628G>A	ENST00000367662.3	+	2	1334	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R57Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	57					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						GCCAAGGTTCGAAGACCCAGA	0.562000													108	70					0	0	0.003610	0	0
IL1R1	3554	broad.mit.edu	37	2	102791180	102791180	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:102791180C>T	ENST00000410023.1	+	10	1443	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Silent_p.L375L|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Silent_p.L375L|IL1R1_ENST00000409288.1_Silent_p.L375L|IL1R1_ENST00000424272.1_Silent_p.L375L|IL1R1_ENST00000409929.1_Silent_p.L375L			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	375					innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ATGATTTTCTCCCAATAAAAG	0.348000													22	45					0	0	0.003330	0	0
AGXT2	64902	broad.mit.edu	37	5	34998865	34998865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:34998865G>A	ENST00000231420.6	-	14	1704	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	502					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AAGGCAGAACGAAATACTTCT	0.378000													7	41					0	0	0.001984	0	0
PTPN13	5783	broad.mit.edu	37	4	87694091	87694091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:87694091C>T	ENST00000436978.1	+	32	5824	c.5344C>T	c.(5344-5346)Cac>Tac	p.H1782Y	PTPN13_ENST00000427191.2_Missense_Mutation_p.H1758Y|PTPN13_ENST00000316707.6_Missense_Mutation_p.H1586Y|PTPN13_ENST00000511467.1_Missense_Mutation_p.H1782Y|PTPN13_ENST00000411767.2_Missense_Mutation_p.H1777Y	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)	1777						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)		CTTGGAAAATCACCTTGAAGA	0.318000													16	9					0	0	0.003163	0	0
PTPN14	5784	broad.mit.edu	37	1	214576224	214576224	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:214576224A>G	ENST00000366956.5	-	6	776		c.e6+1		PTPN14_ENST00000543945.1_Splice_Site	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14						lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCCTGCCTTACCTGTGGGCT	0.537000													97	88					0	0	0.003610	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6093507	6093507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:6093507G>A	ENST00000400104.3	-	15	1420	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.S407L|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.S407L|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.S220L|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.S407L			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	407					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)				GTTCATGTCTGAATACGGGCA	0.393000													27	20					0	0	0.001061	0	0
UBAP2L	9898	broad.mit.edu	37	1	154209586	154209586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:154209586G>A	ENST00000428931.1	+	8	844	c.677G>A	c.(676-678)gGc>gAc	p.G226D	UBAP2L_ENST00000343815.6_Missense_Mutation_p.G226D|UBAP2L_ENST00000271877.7_Missense_Mutation_p.G237D|UBAP2L_ENST00000361546.2_Missense_Mutation_p.G226D	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	226					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AACAACACTGGCCACTTTGAA	0.393000													21	82					0	0	0.001523	0	0
KCNK13	56659	broad.mit.edu	37	14	90651153	90651153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:90651153G>A	ENST00000282146.4	+	2	1474	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	345						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GCTCTCAGGGGAGATGATCTC	0.617000													26	59					0	0	0.001786	0	0
ETV2	2116	broad.mit.edu	37	19	36134494	36134494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:36134494C>T	ENST00000379026.2	+	4	1077	c.638C>T	c.(637-639)cCc>cTc	p.P213L	ETV2_ENST00000379023.4_Intron|ETV2_ENST00000402764.2_Missense_Mutation_p.P185L|ETV2_ENST00000403402.1_Missense_Mutation_p.P185L|ETV2_ENST00000479824.1_Missense_Mutation_p.P92L			B9EIN1	B9EIN1_HUMAN	ets variant 2	185							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			Tggggcgggcccgcgggcccg	0.682000													3	4					0	0	0.004672	0	0
HMG20A	10363	broad.mit.edu	37	15	77756592	77756592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:77756592C>T	ENST00000381714.3	+	4	528	c.100C>T	c.(100-102)Cca>Tca	p.P34S	HMG20A_ENST00000336216.4_Missense_Mutation_p.P34S	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	34					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTTAAATCACCCAGAGGTTCC	0.423000													4	40					0	0	0.000602	0	0
KLHDC10	23008	broad.mit.edu	37	7	129710498	129710498	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:129710498G>A	ENST00000335420.5	+	1	149	c.15G>A	c.(13-15)caG>caA	p.Q5Q		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	5										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CGGCCGCCCAgggctgggaca	0.761000													4	9					0	0	0.001168	0	0
C1orf200	644997	broad.mit.edu	37	1	9714409	9714409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:9714409G>A	ENST00000377320.3	-	1	235	c.86C>T	c.(85-87)tCg>tTg	p.S29L	PIK3CD_ENST00000377346.4_Intron|PIK3CD_ENST00000536656.1_Intron					chromosome 1 open reading frame 200											endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		TTTCTCCTCCGATACCATGTT	0.597000													20	29					0	0	0.002299	0	0
RAET1K	646024	broad.mit.edu	37	6	150322188	150322188	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:150322188G>A	ENST00000533735.1	-	0	688					NR_024045.1																						GTCCATTGAAGAGGAACTGCC	0.502000													17	19					0	0	0.006122	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258337	25258337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:25258337G>A	ENST00000328086.7	-	5	1983	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	394					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R394*(1)		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)		AACTTGGTTCGACACTGTTCT	0.473000													68	103					0	0	0.003610	0	0
FBLN2	2199	broad.mit.edu	37	3	13659748	13659748	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:13659748C>T	ENST00000404922.3	+	6	2021	c.1902C>T	c.(1900-1902)ggC>ggT	p.G634G	FBLN2_ENST00000535798.1_Silent_p.G660G|FBLN2_ENST00000295760.7_Silent_p.G634G|FBLN2_ENST00000492059.1_Silent_p.G634G	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	634	EGF-like 1; calcium-binding.					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)			GCTTTCCTGGCTTCTCACTGC	0.622000													21	50					0	0	0.001882	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1779566	1779566	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:1779566C>T	ENST00000250894.4	+	4	746	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	MAPK8IP3_ENST00000356010.5_Silent_p.L197L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	197					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGAGAGCAGCCTGCcggggcg	0.682000													6	13					0	0	0.001984	0	0
CSMD3	114788	broad.mit.edu	37	8	113697886	113697886	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:113697886T>A	ENST00000297405.5	-	15	2475	c.2231A>T	c.(2230-2232)aAt>aTt	p.N744I	CSMD3_ENST00000352409.3_Missense_Mutation_p.N744I|CSMD3_ENST00000455883.2_Missense_Mutation_p.N640I|CSMD3_ENST00000343508.3_Missense_Mutation_p.N704I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	744	CUB 4.					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						GCAATTTAAATTATTTCCATA	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	75					0	0	0.000958	0	0
STK33	65975	broad.mit.edu	37	11	8478967	8478967	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:8478967C>T	ENST00000447869.1	-	5	1536	c.618G>A	c.(616-618)agG>agA	p.R206R	STK33_ENST00000396672.1_Silent_p.R206R|STK33_ENST00000396673.1_Silent_p.R206R|STK33_ENST00000534493.1_Silent_p.R165R|STK33_ENST00000358872.3_Silent_p.R19R|STK33_ENST00000315204.1_Silent_p.R206R			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	206	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AATGCCCTTTCCTATCCAGAA	0.373000													12	41					0	0	0.004007	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110498933	110498933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:110498933G>A	ENST00000378402.5	+	59	9867	c.9763G>A	c.(9763-9765)Ggg>Agg	p.G3255R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3255					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)			AGCTGATGTTGGGATACTGAG	0.453000										HNSCC(38;0.096)			7	14					0	0	0.001984	0	0
SQRDL	58472	broad.mit.edu	37	15	45968309	45968309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:45968309G>A	ENST00000260324.7	+	6	1051	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.R222Q|SQRDL_ENST00000568606.1_Missense_Mutation_p.R222Q	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	222							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		ACAGGGAAGCGATCCAAGGCC	0.433000													97	197					0	0	0.003610	0	0
SERPINF2	5345	broad.mit.edu	37	17	1650749	1650749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:1650749C>T	ENST00000324015.3	+	7	735	c.658C>T	c.(658-660)Ctc>Ttc	p.L220F	SERPINF2_ENST00000382061.4_Missense_Mutation_p.L220F|SERPINF2_ENST00000450523.2_Missense_Mutation_p.L156F	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	220					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TCAGGAATTCCTCTCTGGGCT	0.592000													17	21					0	0	0.001523	0	0
ZMYM6	9204	broad.mit.edu	37	1	35477493	35477493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:35477493G>A	ENST00000357182.4	-	8	1287	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.Q354*|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.Q354*	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	354					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GATCATACCTGGAAAGCAACC	0.423000													16	35					0	0	0.003163	0	0
CACNG3	10368	broad.mit.edu	37	16	24373007	24373007	+	Silent	SNP	C	C	T	rs144805488		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:24373007C>T	ENST00000005284.3	+	4	1973	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	257					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)		TCCACACCATCCCTTCCACTG	0.592000													26	54					0	0	0.004656	0	0
AKAP9	10142	broad.mit.edu	37	7	91712761	91712761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:91712761C>T	ENST00000359028.2	+	34	8699	c.8474C>T	c.(8473-8475)tCc>tTc	p.S2825F	AKAP9_ENST00000358100.2_Missense_Mutation_p.S2825F|AKAP9_ENST00000356239.3_Missense_Mutation_p.S2813F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2825					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGTGAATGTTCCTCAGAAGAA	0.363000			T	BRAF	papillary thyroid								10	25					0	0	0.000443	0	0
FAM200A	221786	broad.mit.edu	37	7	99145994	99145994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:99145994G>A	ENST00000449309.1	-	2	416	c.37C>T	c.(37-39)Cca>Tca	p.P13S		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	13						integral to membrane	nucleic acid binding			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						GTACCCCCTGGAGACAAATCT	0.453000													36	68					0	0	0.001706	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30688370	30688370	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:30688370G>A	ENST00000215790.7	-	9	1685	c.1521C>T	c.(1519-1521)taC>taT	p.Y507Y	RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Silent_p.Y514Y|TBC1D10A_ENST00000403362.1_Silent_p.Y419Y	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	507	Binding to the PDZ domain of EBP50.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.Y507Y(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGGTTACAAGTAGGTGTCCT	0.597000													75	155					0	0	0.003610	0	0
CHD4	1108	broad.mit.edu	37	12	6692249	6692249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:6692249G>A	ENST00000309577.6	-	26	4338	c.4175C>T	c.(4174-4176)tCc>tTc	p.S1392F	CHD4_ENST00000357008.2_Missense_Mutation_p.S1364F|CHD4_ENST00000544484.1_Missense_Mutation_p.S1389F|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544040.1_Missense_Mutation_p.S1357F|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1364					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						TGAGTAATCGGACTGGTTGTC	0.547000													22	71					0	0	0.002299	0	0
RNF17	56163	broad.mit.edu	37	13	25373580	25373580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:25373580G>A	ENST00000255324.5	+	12	1499	c.1447G>A	c.(1447-1449)Gga>Aga	p.G483R	RNF17_ENST00000255325.5_Missense_Mutation_p.G484R|RNF17_ENST00000381921.1_Missense_Mutation_p.G483R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	483					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTGGTGTCGAGGAACTATCAC	0.323000													16	107					0	0	0.004990	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897227	130897227	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:130897227G>A	ENST00000392984.3	-	7	2093	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	CCDC74B_ENST00000409943.3_Silent_p.I282I|CCDC74B_ENST00000310463.6_Silent_p.I348I			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	348										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GTGCGGGCAGGATGGCACGCT	0.637000													8	16					0	0	0.004482	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668085	94668085	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:94668085G>A	ENST00000370217.3	-	11	1408	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	ARHGAP29_ENST00000260526.6_Intron			Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	0				N -> D (in Ref. 1; AAB81012).	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)		AAATAAAAAAGAAAAAGATCG	0.413000													22	68					0	0	0.001882	0	0
NEFM	4741	broad.mit.edu	37	8	24776021	24776021	+	Missense_Mutation	SNP	G	G	A	rs150229714		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:24776021G>A	ENST00000221166.5	+	3	3435	c.2653G>A	c.(2653-2655)Gag>Aag	p.E885K	NEFM_ENST00000518131.1_Missense_Mutation_p.E667K|NEFM_ENST00000433454.2_Missense_Mutation_p.E509K|NEFM_ENST00000437366.2_Missense_Mutation_p.E846K|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	885	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)		AAAGGTTGAAGAGCATGAAGA	0.428000													35	88					0	0	0.003271	0	0
AHCYL2	23382	broad.mit.edu	37	7	129046259	129046259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:129046259C>T	ENST00000325006.3	+	10	1301	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	AHCYL2_ENST00000490911.1_Missense_Mutation_p.S313F|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S313F|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S335F|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S314F|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S415F	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	416					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GCCATGGGCTCCATTGTGTAT	0.498000													40	72					0	0	0.003214	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111896267	111896267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:111896267C>T	ENST00000375741.2	+	8	1121	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375737.5_Nonsense_Mutation_p.Q188*|ARHGEF7_ENST00000375736.4_Nonsense_Mutation_p.Q113*|ARHGEF7_ENST00000426073.2_Nonsense_Mutation_p.Q113*|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000478679.1_Nonsense_Mutation_p.Q35*|ARHGEF7_ENST00000317133.5_Nonsense_Mutation_p.Q270*|ARHGEF7_ENST00000375723.1_Nonsense_Mutation_p.Q113*|ARHGEF7_ENST00000375739.2_Nonsense_Mutation_p.Q241*|ARHGEF7_ENST00000218789.5_Nonsense_Mutation_p.Q113*|ARHGEF7_ENST00000370623.3_Nonsense_Mutation_p.Q198*	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	291	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TAAAGAACTTCAGACTGTGCT	0.318000													14	19					0	0	0.002450	0	0
PIN1	5300	broad.mit.edu	37	19	9949200	9949200	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9949200G>A	ENST00000247970.4	+	2	169	c.147G>A	c.(145-147)caG>caA	p.Q49Q	PIN1_ENST00000588695.1_Silent_p.Q49Q|PIN1_ENST00000380889.6_3'UTR|PIN1_ENST00000587625.1_Silent_p.Q49Q	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	49					cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(3)	3						AAAACGGGCAGGGGGAGCCTG	0.662000													7	11					0	0	0.001984	0	0
ANLN	54443	broad.mit.edu	37	7	36458936	36458936	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:36458936C>T	ENST00000265748.2	+	10	1938	c.1717C>T	c.(1717-1719)Cta>Tta	p.L573L	ANLN_ENST00000396068.2_Silent_p.L536L	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	573	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGTGATGTCCTAGAGGAAGG	0.388000													18	46					0	0	0.006122	0	0
ZNF503	84858	broad.mit.edu	37	10	77158574	77158574	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:77158574G>C	ENST00000372524.4	-	2	2360	c.1874C>G	c.(1873-1875)cCg>cGg	p.P625R	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.P625R	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGAGTAGTACGGTCCGGTGGC	0.726000													3	9					0	0	0.000248	0	0
PEG3	5178	broad.mit.edu	37	19	57327492	57327492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:57327492G>A	ENST00000326441.9	-	10	2681	c.2318C>T	c.(2317-2319)tCa>tTa	p.S773L	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S649L|PEG3_ENST00000593695.1_Missense_Mutation_p.S647L|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S773L|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	773					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)		CCTCTCATATGATTTTGCCTC	0.438000													55	91					0	0	0.003610	0	0
TMEM176B	28959	broad.mit.edu	37	7	150488649	150488649	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:150488649C>T	ENST00000447204.2	-	7	1155	c.783G>A	c.(781-783)agG>agA	p.R261R	TMEM176B_ENST00000434545.1_Silent_p.R261R|TMEM176B_ENST00000450753.2_Silent_p.R224R|TMEM176B_ENST00000326442.5_Silent_p.R261R|TMEM176B_ENST00000492607.1_Silent_p.R261R|TMEM176B_ENST00000429904.2_Silent_p.R261R	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	261					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)		AGGTCTGCTCCCTAGAGGGCG	0.567000													15	47					0	0	0.002780	0	0
U2SURP	23350	broad.mit.edu	37	3	142720497	142720497	+	Silent	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:142720497T>C	ENST00000473835.2	+	1	117	c.27T>C	c.(25-27)tcT>tcC	p.S9S	U2SURP_ENST00000493598.2_Silent_p.S9S|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	9					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CAGGCGGATCTCAGAAGGCCA	0.572000													13	31					0	0	0.004990	0	0
CFHR1	3078	broad.mit.edu	37	1	196800955	196800955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:196800955G>A	ENST00000320493.5	+	6	907	c.819G>A	c.(817-819)atG>atA	p.M273I	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.M214I	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	273	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GAGAAATTATGGAAAATTATA	0.333000													20	14					0	0	0.003330	0	0
CCDC40	55036	broad.mit.edu	37	17	78063628	78063628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:78063628C>T	ENST00000397545.4	+	17	2804	c.2777C>T	c.(2776-2778)tCc>tTc	p.S926F	CCDC40_ENST00000374877.3_Missense_Mutation_p.S926F|CCDC40_ENST00000573903.1_3'UTR	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	926					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCAGTGGATTCCGAGATCGGC	0.552000													24	20					0	0	0.005443	0	0
TEX14	56155	broad.mit.edu	37	17	56692691	56692691	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:56692691C>T	ENST00000389934.3	-	8	900	c.783G>A	c.(781-783)ggG>ggA	p.G261G	TEX14_ENST00000349033.5_Silent_p.G261G|TEX14_ENST00000240361.8_Silent_p.G267G	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	267	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGACCCTGCTCCCATTCCACA	0.527000													33	59					0	0	0.002836	0	0
THBS4	7060	broad.mit.edu	37	5	79363932	79363932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:79363932G>A	ENST00000350881.2	+	10	1521	c.1331G>A	c.(1330-1332)gGg>gAg	p.G444E	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G353E	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	444	EGF-like 4.				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)		GAGAGGCAGGGGGATGTGACA	0.458000													39	45					0	0	0.002522	0	0
CDH6	1004	broad.mit.edu	37	5	31313499	31313499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:31313499C>T	ENST00000265071.2	+	8	1593	c.1328C>T	c.(1327-1329)tCg>tTg	p.S443L	CDH6_ENST00000514738.1_Missense_Mutation_p.S388L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	443	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTTTTACATCGAAACTTCTT	0.393000													36	53					0	0	0.003755	0	0
NT5DC3	51559	broad.mit.edu	37	12	104179185	104179185	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:104179185G>A	ENST00000392876.3	-	12	1297	c.1257C>T	c.(1255-1257)atC>atT	p.I419I		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	419							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CCGTGTTCATGATTTTGAGCT	0.438000													37	50					0	0	0.001287	0	0
CNGB1	1258	broad.mit.edu	37	16	57931750	57931750	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:57931750C>T	ENST00000564448.1	-	30	3087	c.3027G>A	c.(3025-3027)ggG>ggA	p.G1009G	CNGB1_ENST00000251102.8_Silent_p.G1015G			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1015					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						GCACAGATTTCCCATCAGGGC	0.557000													68	153					0	0	0.003610	0	0
SNRK	54861	broad.mit.edu	37	3	43381846	43381846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:43381846C>T	ENST00000296088.7	+	5	1103	c.799C>T	c.(799-801)Cct>Tct	p.P267S	SNRK_ENST00000454177.1_Missense_Mutation_p.P267S|SNRK_ENST00000429705.2_Missense_Mutation_p.P267S|SNRK_ENST00000437827.1_Missense_Mutation_p.P61S	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	267	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TGAAAATCATCCTTGGCTTCA	0.438000													73	131					0	0	0.003610	0	0
LILRA1	11024	broad.mit.edu	37	19	55107847	55107847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:55107847G>A	ENST00000251372.3	+	7	1334	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	384	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AATTCCCTATGAGTCCTGTGA	0.572000													43	61					0	0	0.003214	0	0
GRM5	2915	broad.mit.edu	37	11	88780813	88780813	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:88780813C>T	ENST00000418177.2	-	2	595	c.228G>A	c.(226-228)ctG>ctA	p.L76L	GRM5_ENST00000305447.4_Silent_p.L76L|GRM5_ENST00000305432.5_Silent_p.L76L|GRM5_ENST00000393297.1_Silent_p.L76L|GRM5_ENST00000455756.2_Silent_p.L76L|GRM5_ENST00000393294.3_Silent_p.L76L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	76					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGATCCTTTCCAGGGTATGCA	0.542000													6	8					0	0	0.001984	0	0
PKD1L1	168507	broad.mit.edu	37	7	47874589	47874589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:47874589C>T	ENST00000289672.2	-	39	6153	c.6103G>A	c.(6103-6105)Gga>Aga	p.G2035R		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2035					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						GTCTGTGCTCCTCCTCTAAGT	0.542000													29	74					0	0	0.003271	0	0
PTPRT	11122	broad.mit.edu	37	20	40730817	40730817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:40730817G>A	ENST00000373198.3	-	27	3962	c.3727C>T	c.(3727-3729)Ctt>Ttt	p.L1243F	PTPRT_ENST00000373184.1_Missense_Mutation_p.L1231F|PTPRT_ENST00000373187.1_Missense_Mutation_p.L1221F|PTPRT_ENST00000373190.1_Missense_Mutation_p.L1220F|PTPRT_ENST00000356100.2_Missense_Mutation_p.L1230F|PTPRT_ENST00000373193.3_Missense_Mutation_p.L1224F|PTPRT_ENST00000373201.1_Missense_Mutation_p.L1211F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1221	Tyrosine-protein phosphatase 2.				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)				ACTGAGATAAGGAAGGGCAGG	0.577000													26	48					0	0	0.002096	0	0
SGSM1	129049	broad.mit.edu	37	22	25255689	25255689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:25255689G>A	ENST00000400358.4	+	9	865	c.808G>A	c.(808-810)Gac>Aac	p.D270N	SGSM1_ENST00000400359.4_Missense_Mutation_p.D270N	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	270						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCAGAGGGACGACATGGAGGC	0.562000													16	27					0	0	0.004990	0	0
OR5L1	219437	broad.mit.edu	37	11	55578985	55578985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:55578985C>T	ENST00000333973.2	+	1	132	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	15					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)				GTTCATTCTCCTTGGACTATC	0.428000													19	93					0	0	0.001523	0	0
GPR137	56834	broad.mit.edu	37	11	64056796	64056796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:64056796C>T	ENST00000411458.1	+	9	1415	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S	GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P405S|GPR137_ENST00000438980.2_3'UTR	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	405						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CTGGCCGGCTCCTTGCTGCTC	0.667000													15	81					0	0	0.001216	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144061029	144061029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:144061029C>T	ENST00000056217.5	+	2	1441	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	423					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGACCTGTTTCCAGGTGCCTC	0.577000													15	9					0	0	0.000958	0	0
HSP90B1	7184	broad.mit.edu	37	12	104326062	104326062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:104326062G>A	ENST00000299767.5	+	3	342	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	54					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)	TAGAGAGGAAGAAGCTATTCA	0.383000													10	37					0	0	0.000443	0	0
TMC5	79838	broad.mit.edu	37	16	19455440	19455440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:19455440C>T	ENST00000396229.2	+	4	1575	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	TMC5_ENST00000541464.1_Missense_Mutation_p.R276C|TMC5_ENST00000542583.2_Missense_Mutation_p.R276C|TMC5_ENST00000381414.4_Missense_Mutation_p.R276C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	276						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCCTCATTTCGTCACAGGAG	0.463000													34	67					0	0	0.004878	0	0
ZNF808	388558	broad.mit.edu	37	19	53057062	53057062	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:53057062A>C	ENST00000359798.4	+	5	1073	c.893A>C	c.(892-894)tAc>tCc	p.Y298S		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCCTTCAGTTACAAGTCATCC	0.418000													31	89					0	0	0.002445	0	0
OR4X1	390113	broad.mit.edu	37	11	48285459	48285459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:48285459C>T	ENST00000320048.1	+	1	47	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTGGGATTTTCCCAGAATTGG	0.453000													25	27					0	0	0.004656	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356480	40356480	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:40356480G>A	ENST00000310169.2	+	5	1522	c.1383G>A	c.(1381-1383)tgG>tgA	p.W461*		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	461					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)	TCTTCATGTGGATTTTTTTCA	0.408000													53	110					0	0	0.003610	0	0
FAIM2	23017	broad.mit.edu	37	12	50264310	50264310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:50264310G>A	ENST00000320634.3	-	12	1022	c.928C>T	c.(928-930)Ctt>Ttt	p.L310F	FAIM2_ENST00000550890.1_Missense_Mutation_p.L264F	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	310					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						GTGCCAAAAAGCTGCAGGAAG	0.562000													43	53					0	0	0.003610	0	0
ABCG1	9619	broad.mit.edu	37	21	43702476	43702476	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:43702476C>T	ENST00000398437.1	+	7	1267	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	ABCG1_ENST00000343687.3_Silent_p.I238I|ABCG1_ENST00000398457.2_Silent_p.I229I|ABCG1_ENST00000398449.3_Silent_p.I227I|ABCG1_ENST00000361802.2_Silent_p.I227I|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Silent_p.I335I|ABCG1_ENST00000347800.2_Silent_p.I224I			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	227					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GCCTGGCCATCGCGCTGGAGC	0.627000													8	29					0	0	0.000443	0	0
SLC38A3	10991	broad.mit.edu	37	3	50256359	50256359	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:50256359C>T	ENST00000420502.1	+	0	1438							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)	CCCCAACATCCTGGGCATCTT	0.552000													17	30					0	0	0.001216	0	0
UNC13C	440279	broad.mit.edu	37	15	54860035	54860035	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:54860035A>G	ENST00000545554.1	+	29	5996	c.5996A>G	c.(5995-5997)aAt>aGt	p.N1999S	UNC13C_ENST00000260323.11_Missense_Mutation_p.N1999S|UNC13C_ENST00000537900.1_Missense_Mutation_p.N1997S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1999	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGAAAAAGAATTTCTTGGAG	0.353000													4	6					0	0	0.000602	0	0
ETV5	2119	broad.mit.edu	37	3	185766567	185766567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:185766567G>A	ENST00000306376.5	-	13	1640	c.1394C>T	c.(1393-1395)cCg>cTg	p.P465L	ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.P507L|ETV5_ENST00000434744.1_Missense_Mutation_p.P465L	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	465					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CTTCAGGAACGGACGCTGGTT	0.592000			T	"""TMPRSS2, SCL45A3"""	Prostate								12	34					0	0	0.002450	0	0
ACAN	176	broad.mit.edu	37	15	89382240	89382240	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:89382240C>T	ENST00000439576.2	+	3	791	c.417C>T	c.(415-417)atC>atT	p.I139I	ACAN_ENST00000561243.1_Silent_p.I139I|ACAN_ENST00000558207.1_Silent_p.I139I|ACAN_ENST00000352105.7_Silent_p.I139I|ACAN_ENST00000559004.1_Silent_p.I139I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	139					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)			TGCATGGCATCGAGGACAGCG	0.612000													25	70					0	0	0.003954	0	0
TRIM3	10612	broad.mit.edu	37	11	6470603	6470603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:6470603G>A	ENST00000525074.1	-	11	2409	c.2015C>T	c.(2014-2016)cCc>cTc	p.P672L	TRIM3_ENST00000537602.1_Missense_Mutation_p.P594L|TRIM3_ENST00000345851.3_Missense_Mutation_p.P672L|TRIM3_ENST00000536344.1_Missense_Mutation_p.P553L|TRIM3_ENST00000359518.3_Missense_Mutation_p.P672L	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	672					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)		TACTCCTGTGGGGGCATTGAA	0.592000													14	23					0	0	0.003163	0	0
ERCC6	2074	broad.mit.edu	37	10	50686467	50686467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:50686467G>A	ENST00000355832.5	-	11	2297	c.2219C>T	c.(2218-2220)cCa>cTa	p.P740L	ERCC6_ENST00000542458.1_Missense_Mutation_p.P110L	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	740					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAGTAGGTATGGATTTATGGT	0.388000								Direct reversal of damage;Nucleotide excision repair (NER)					41	89					0	0	0.002522	0	0
RGS3	5998	broad.mit.edu	37	9	116246496	116246496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:116246496C>T	ENST00000374140.2	+	7	813	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	RGS3_ENST00000350696.5_Missense_Mutation_p.H202Y|RGS3_ENST00000317613.6_Missense_Mutation_p.H90Y	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	202	C2.				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						CCCGGCTTTCCACGAGCACTT	0.483000													42	36					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25351673	25351673	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:25351673G>A	ENST00000546682.1	+	0	3911				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-29_ENST00000384516.1_RNA	NR_003361.1																						TGCCTGGATCGATGATGACTT	0.458000													9	19					0	0	0.000443	0	0
MSL3P1	151507	broad.mit.edu	37	2	234774900	234774900	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:234774900C>T	ENST00000438684.1	-	0	1214					NR_024322.1																						CAAAGTGCTTCAATAAAGCCT	0.428000													15	53					0	0	0.004007	0	0
SHOC2	8036	broad.mit.edu	37	10	112764468	112764468	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:112764468C>T	ENST00000369452.4	+	5	1422	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	SHOC2_ENST00000265277.5_Silent_p.S313S|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	359					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CCATCTATTCCCTCAACATGG	0.353000													8	43					0	0	0.000978	0	0
SYT7	9066	broad.mit.edu	37	11	61290569	61290569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:61290569C>T	ENST00000263846.4	-	8	1412	c.1085G>A	c.(1084-1086)aGc>aAc	p.S362N	SYT7_ENST00000542836.1_Missense_Mutation_p.S406N|SYT7_ENST00000540677.1_Missense_Mutation_p.S437N|SYT7_ENST00000535826.1_Missense_Mutation_p.S481N|SYT7_ENST00000542670.1_Missense_Mutation_p.S570N|SYT7_ENST00000539008.1_Missense_Mutation_p.S645N	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	362	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTCATTGCGGCTGAGCTTGTC	0.572000													16	80					0	0	0.000958	0	0
CDC45	8318	broad.mit.edu	37	22	19504097	19504097	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:19504097C>T	ENST00000407835.1	+	17	1744	c.1488C>T	c.(1486-1488)ccC>ccT	p.P496P	CDC45_ENST00000404724.3_Silent_p.P450P|CDC45_ENST00000263201.1_Silent_p.P496P|CDC45_ENST00000437685.2_Silent_p.P528P			O75419	CDC45_HUMAN	cell division cycle 45	496					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						TGGCTGCCCCCCTGAGCATGG	0.627000													27	25					0	0	0.001271	0	0
TGFBI	7045	broad.mit.edu	37	5	135390545	135390545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:135390545C>T	ENST00000442011.2	+	10	1566	c.1405C>T	c.(1405-1407)Cgt>Tgt	p.R469C	TGFBI_ENST00000305126.8_Missense_Mutation_p.R469C	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	469	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTTGTTTATCGTAATGTAAG	0.423000													74	111					0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882851	228882851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:228882851C>T	ENST00000392056.3	-	7	2765	c.2719G>A	c.(2719-2721)Gac>Aac	p.D907N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D907N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	907						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)		AGCAGCAGGTCATCCCCTAAC	0.488000													27	129					0	0	0.005443	0	0
WDR34	89891	broad.mit.edu	37	9	131396564	131396564	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:131396564A>T	ENST00000372715.2	-	8	1373	c.1313T>A	c.(1312-1314)cTg>cAg	p.L438Q		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	438						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CACAGCAAACAGATACTTGAG	0.597000													39	29					0	0	0.002522	0	0
C4orf22	255119	broad.mit.edu	37	4	81884756	81884756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:81884756G>A	ENST00000358105.3	+	6	741	c.692G>A	c.(691-693)aGg>aAg	p.R231K	C4orf22_ENST00000508675.1_Missense_Mutation_p.R248K	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	231										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ATTTCCAGAAGGAAGACTTAA	0.348000													6	6					0	0	0.003080	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261885	125261885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:125261885C>T	ENST00000431078.1	+	8	1440	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	359	Laminin G-like 1.				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)		GTCACTTTTTCCTGCTCCGAA	0.463000													10	59					0	0	0.000978	0	0
GTF3C1	2975	broad.mit.edu	37	16	27476020	27476020	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:27476020G>A	ENST00000356183.4	-	34	5508	c.5493C>T	c.(5491-5493)gaC>gaT	p.D1831D	GTF3C1_ENST00000561623.1_Silent_p.D1831D	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1831						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						TGGCCTGGGGGTCTTCTCTCT	0.677000													31	49					0	0	0.002096	0	0
C3orf56	285311	broad.mit.edu	37	3	126916110	126916110	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:126916110C>T	ENST00000398112.1	+	2	822	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCTCCAGGTTCGGTATTTGGG	0.632000													17	20					0	0	0.001216	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40726592	40726592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:40726592C>T	ENST00000372759.3	+	2	370	c.205C>T	c.(205-207)Ctc>Ttc	p.L69F	ZMPSTE24_ENST00000479131.1_3'UTR	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	69						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	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;6.3e-18)			GAAATCTCGACTCTATCAACT	0.378000													56	88					0	0	0.003610	0	0
FAM166A	401565	broad.mit.edu	37	9	140139814	140139814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:140139814C>T	ENST00000344774.4	-	3	521	c.467G>A	c.(466-468)gGg>gAg	p.G156E	FAM166A_ENST00000388932.2_Missense_Mutation_p.G156E	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	156										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GGCCTCTTCCCCGTATACTGG	0.662000													35	22					0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179582835	179582835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179582835C>T	ENST00000589042.1	-	86	25122	c.24898G>A	c.(24898-24900)Gaa>Aaa	p.E8300K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E7983K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E7056K|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7983	Ig-like 65.						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)			TTTGTGTGTTCTTTATACCAA	0.383000													16	18					0	0	0.006122	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367468	99367468	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:99367468G>A	ENST00000336411.2	-	6	627	c.444C>T	c.(442-444)atC>atT	p.I148I	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	148					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)	ACTGGGCAATGATAGGGACCA	0.498000													14	50					0	0	0.002780	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20252888	20252888	+	Silent	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:20252888A>G	ENST00000379565.3	-	2	321	c.114T>C	c.(112-114)atT>atC	p.I38I	RPS6KA3_ENST00000544447.1_Silent_p.I10I|RPS6KA3_ENST00000540702.1_Silent_p.I10I	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	38			I -> S (in dbSNP:rs56218010).		axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TTTGTGGGTTAATCTCCTCCT	0.343000													36	15					0	0	0.002222	0	0
LPCAT4	254531	broad.mit.edu	37	15	34654491	34654491	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:34654491A>G	ENST00000314891.6	-	10	1093	c.916T>C	c.(916-918)Ttt>Ctt	p.F306L		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	306					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CTCCCTACAAACTCACATTCG	0.547000													48	68					0	0	0.003610	0	0
ZNF668	79759	broad.mit.edu	37	16	31073569	31073569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:31073569G>A	ENST00000538906.1	-	3	1464	c.680C>T	c.(679-681)tCc>tTc	p.S227F	ZNF668_ENST00000300849.4_Missense_Mutation_p.S227F|ZNF668_ENST00000394983.2_Missense_Mutation_p.S227F|ZNF668_ENST00000535577.1_Missense_Mutation_p.S227F|ZNF668_ENST00000539836.3_Missense_Mutation_p.S250F|ZNF668_ENST00000426488.2_Missense_Mutation_p.S250F	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCCGCACTCGGAGCAGAGGAA	0.682000													21	45					0	0	0.004656	0	0
SYTL4	94121	broad.mit.edu	37	X	99942167	99942167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:99942167C>T	ENST00000455616.1	-	12	1427	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	SYTL4_ENST00000276141.6_Missense_Mutation_p.A361T|SYTL4_ENST00000454200.2_Missense_Mutation_p.A363T|SYTL4_ENST00000263033.5_Missense_Mutation_p.A361T|SYTL4_ENST00000372989.1_Missense_Mutation_p.A361T|SYTL4_ENST00000372981.1_3'UTR			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	361	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGGAAAAGGCAATCCTGCCA	0.493000													35	13					0	0	0.005524	0	0
FLT3	2322	broad.mit.edu	37	13	28602361	28602361	+	Silent	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:28602361T>A	ENST00000380982.4	-	16	2088	c.2007A>T	c.(2005-2007)ggA>ggT	p.G669G	FLT3_ENST00000241453.7_Silent_p.G669G|FLT3_ENST00000537084.1_Silent_p.G669G			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	669	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)	TCTCGTGGCTTCCCAGCTGGG	0.448000			"""Mis, O"""		"""AML, ALL"""								16	31					0	0	0.000958	0	0
TIAM2	26230	broad.mit.edu	37	6	155485721	155485721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:155485721C>T	ENST00000461783.3	+	10	3474	c.2201C>T	c.(2200-2202)tCt>tTt	p.S734F	TIAM2_ENST00000360366.4_Missense_Mutation_p.S734F|TIAM2_ENST00000456144.1_Missense_Mutation_p.S734F|TIAM2_ENST00000456877.2_Missense_Mutation_p.S46F|TIAM2_ENST00000529824.2_Missense_Mutation_p.S734F|TIAM2_ENST00000318981.5_Missense_Mutation_p.S734F|TIAM2_ENST00000367174.2_Missense_Mutation_p.S86F|TIAM2_ENST00000528391.2_Missense_Mutation_p.S46F			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	734					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)		TCTGTTTCCTCTTTCCATGCT	0.587000													70	95					0	0	0.003610	0	0
USP32	84669	broad.mit.edu	37	17	58300780	58300780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:58300780G>A	ENST00000300896.4	-	14	1794	c.1600C>T	c.(1600-1602)Cca>Tca	p.P534S	USP32_ENST00000592339.1_Missense_Mutation_p.P204S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	534	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACCTTTACTGGTTCTTGAGTT	0.343000													28	64					0	0	0.001271	0	0
FAT1	2195	broad.mit.edu	37	4	187509767	187509767	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:187509767G>A	ENST00000441802.2	-	27	13955	c.13746C>T	c.(13744-13746)tcC>tcT	p.S4582S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4582					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						TGTGCTGCTGGGAATCCAGGG	0.562000										HNSCC(5;0.00058)			16	10					0	0	0.000958	0	0
OLFM2	93145	broad.mit.edu	37	19	9967558	9967558	+	Silent	SNP	G	G	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9967558G>C	ENST00000264833.4	-	5	797	c.612C>G	c.(610-612)ccC>ccG	p.P204P	OLFM2_ENST00000590841.1_Silent_p.P126P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	204	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GAACGGTGATGGGGTTACTGA	0.637000													4	9					0	0	0.001168	0	0
XIRP2	129446	broad.mit.edu	37	2	168097217	168097217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:168097217C>T	ENST00000409195.1	+	7	1102	c.1013C>T	c.(1012-1014)tCt>tTt	p.S338F	XIRP2_ENST00000409728.1_Missense_Mutation_p.S371F|XIRP2_ENST00000409756.2_Missense_Mutation_p.S338F|XIRP2_ENST00000295237.9_Missense_Mutation_p.S338F|XIRP2_ENST00000409043.1_Missense_Mutation_p.S338F|XIRP2_ENST00000409605.1_Missense_Mutation_p.S116F|XIRP2_ENST00000409273.1_Missense_Mutation_p.S116F|XIRP2_ENST00000420519.1_Missense_Mutation_p.S371F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	163					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						AACCAAGCATCTCAGTTTCAT	0.318000													35	51					0	0	0.001706	0	0
PYGM	5837	broad.mit.edu	37	11	64522293	64522293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:64522293C>T	ENST00000164139.3	-	8	1269	c.871G>A	c.(871-873)Gag>Aag	p.E291K	PYGM_ENST00000377432.3_Missense_Mutation_p.E203K	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	291					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)	AGCCGCAGCTCCTTCCCTTCG	0.627000													5	15					0	0	0.001168	0	0
ADAM21	8747	broad.mit.edu	37	14	70924751	70924751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:70924751G>A	ENST00000603540.1	+	2	793	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	ADAM21_ENST00000267499.3_Missense_Mutation_p.E179K|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	179					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AACAGAGAAGGAAGTAGCACG	0.458000													10	28					0	0	0.000673	0	0
WDR41	55255	broad.mit.edu	37	5	76729001	76729001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:76729001G>A	ENST00000296679.4	-	13	1714	c.1339C>T	c.(1339-1341)Caa>Taa	p.Q447*	WDR41_ENST00000512033.1_5'UTR|WDR41_ENST00000507029.1_Nonsense_Mutation_p.Q392*|WDR41_ENST00000414719.2_Nonsense_Mutation_p.Q193*	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	447										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TCTAATTTTTGAAATAATCTT	0.373000													15	74					0	0	0.000958	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77356242	77356242	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:77356242C>T	ENST00000282849.5	-	14	2572	c.2154G>A	c.(2152-2154)ggG>ggA	p.G718G		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	718	Cys-rich.				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						CTTCACAAACCCCGTCAATAC	0.418000													22	56					0	0	0.002780	0	0
ERBB4	2066	broad.mit.edu	37	2	212251679	212251679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:212251679C>T	ENST00000342788.4	-	27	3690	c.3380G>A	c.(3379-3381)aGg>aAg	p.R1127K	ERBB4_ENST00000436443.1_Missense_Mutation_p.R1111K|ERBB4_ENST00000402597.1_Missense_Mutation_p.R1117K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1127					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)		AGCACTGTACCTCTGGGTGCT	0.552000										TSP Lung(8;0.080)			14	37					0	0	0.004990	0	0
MLXIP	22877	broad.mit.edu	37	12	122611827	122611827	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:122611827G>A	ENST00000319080.6	+	2	570	c.438G>A	c.(436-438)tgG>tgA	p.W146*				Q9HAP2	MLXIP_HUMAN	MLX interacting protein	146	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CTCCAAAGTGGAAGAATTTCA	0.512000											OREG0022217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	12					0	0	0.000673	0	0
BPTF	2186	broad.mit.edu	37	17	65850238	65850238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:65850238C>T	ENST00000321892.4	+	2	857	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	BPTF_ENST00000306378.6_Missense_Mutation_p.R266C|BPTF_ENST00000424123.3_Missense_Mutation_p.R127C|BPTF_ENST00000335221.5_Missense_Mutation_p.R266C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	266	DDT.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCTCCTTTTCGCTTTGAGGA	0.443000													30	79					0	0	0.001271	0	0
ZNF98	148198	broad.mit.edu	37	19	22574947	22574947	+	Missense_Mutation	SNP	G	G	A	rs74170714		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:22574947G>A	ENST00000357774.5	-	4	1211	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTAGTAAGGTGGGATAACCGG	0.383000													11	13					0	0	0.001368	0	0
SPTLC3	55304	broad.mit.edu	37	20	13053030	13053030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:13053030G>A	ENST00000399002.2	+	3	704	c.430G>A	c.(430-432)Gta>Ata	p.V144I	SPTLC3_ENST00000378194.4_Missense_Mutation_p.V144I	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	144					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GATGGAGAGGGTATCAGACGA	0.443000													86	248					0	0	0.003610	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736306	140736306	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140736306C>T	ENST00000571252.1	+	1	1539	c.1539C>T	c.(1537-1539)atC>atT	p.I513I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACAGGGATCCTATATGCTC	0.522000													55	63					0	0	0.003610	0	0
TSLP	85480	broad.mit.edu	37	5	110407594	110407594	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:110407594C>T	ENST00000344895.3	+	1	205	c.6C>T	c.(4-6)ttC>ttT	p.F2F	TSLP_ENST00000420978.2_Intron	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	2				MFPFALLYVLS -> MKCLGQSKKEE (in Ref. 3; AAH40592).		extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CACGTATGTTCCCTTTTGCCT	0.448000													15	64					0	0	0.003163	0	0
CDH13	1012	broad.mit.edu	37	16	83704458	83704458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:83704458G>A	ENST00000566620.1	+	9	1455	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	CDH13_ENST00000268613.10_Missense_Mutation_p.D436N|CDH13_ENST00000428848.3_Missense_Mutation_p.D350N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	389	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGAAGATAAGGATGACCCCAC	0.488000													19	49					0	0	0.001216	0	0
CEBPE	1053	broad.mit.edu	37	14	23587028	23587028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:23587028G>A	ENST00000206513.5	-	2	1038	c.514C>T	c.(514-516)Cct>Tct	p.P172S		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	172						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		GTGGCCAAAGGGGCCTGGAGG	0.672000													12	22					0	0	0.001368	0	0
TLN1	7094	broad.mit.edu	37	9	35706001	35706001	+	Silent	SNP	G	G	A	rs149087654		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:35706001G>A	ENST00000314888.9	-	41	5822	c.5469C>T	c.(5467-5469)gtC>gtT	p.V1823V	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1823	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCCACCCACGACCCCAGCAG	0.617000													33	54					0	0	0.002836	0	0
NOD2	64127	broad.mit.edu	37	16	50733553	50733553	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:50733553C>T	ENST00000300589.2	+	2	333	c.228C>T	c.(226-228)ctC>ctT	p.L76L	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	76	CARD 1.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTTCCACCTCCTGGGCCAGC	0.627000													24	58					0	0	0.003330	0	0
POLM	27434	broad.mit.edu	37	7	44119559	44119559	+	Splice_Site	SNP	C	C	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:44119559C>G	ENST00000242248.5	-	3	474		c.e3-1		POLM_ENST00000335195.6_Splice_Site|POLM_ENST00000395831.3_Splice_Site	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu						DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GCCCAGCCACCTGGGGATGGG	0.642000								DNA polymerases (catalytic subunits)					18	20					0	0	0.006122	0	0
SYNE1	23345	broad.mit.edu	37	6	152646290	152646290	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:152646290G>A	ENST00000367255.5	-	81	16187	c.15586C>T	c.(15586-15588)Cga>Tga	p.R5196*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R5125*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R5125*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R4889*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R5196*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5196					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)		GCCACAGCTCGAAGGCGTGTC	0.542000										HNSCC(10;0.0054)			10	147					0	0	0.001855	0	0
NTRK1	4914	broad.mit.edu	37	1	156841478	156841478	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:156841478A>G	ENST00000368196.3	+	7	901	c.781A>G	c.(781-783)Aag>Gag	p.K261E	NTRK1_ENST00000392302.2_Missense_Mutation_p.K231E|NTRK1_ENST00000358660.3_Missense_Mutation_p.K261E|NTRK1_ENST00000524377.1_Missense_Mutation_p.K261E	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	261	Ig-like C2-type 1.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCTCAACAGGAAGAACGTGAC	0.587000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			46	43					0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141765418	141765418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:141765418C>T	ENST00000475668.2	+	39	4703	c.4649C>T	c.(4648-4650)tCc>tTc	p.S1550F	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1550	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)	TTTGGCATATCCTATGTGAGT	0.498000													23	52					0	0	0.001061	0	0
ASF1B	55723	broad.mit.edu	37	19	14231322	14231322	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:14231322G>A	ENST00000263382.3	-	4	1057	c.558C>T	c.(556-558)ctC>ctT	p.L186L	ASF1B_ENST00000592798.1_Silent_p.L127L	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	186					cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						TGCAGCCAGGGAGCCCCAAGC	0.637000													5	34					0	0	0.000602	0	0
TDRD9	122402	broad.mit.edu	37	14	104491926	104491926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:104491926G>A	ENST00000409874.4	+	26	2792	c.2744G>A	c.(2743-2745)gGa>gAa	p.G915E	TDRD9_ENST00000339063.5_Missense_Mutation_p.G915E	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	915					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CACTTTTGGGGATACAGGATT	0.433000													13	62					0	0	0.001368	0	0
FOXN1	8456	broad.mit.edu	37	17	26851738	26851738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:26851738G>A	ENST00000226247.2	+	2	370	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	FOXN1_ENST00000579795.1_Missense_Mutation_p.R114Q	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	114					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)					AGCCCTGGGCGATTCCTCAAG	0.657000													8	5					0	0	0.004482	0	0
MYRF	745	broad.mit.edu	37	11	61539312	61539312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:61539312G>A	ENST00000278836.5	+	7	1099	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.D326N	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CCTCCTGCAGGACAGTGACAG	0.617000													16	50					0	0	0.003163	0	0
PLCZ1	89869	broad.mit.edu	37	12	18865877	18865877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:18865877C>T	ENST00000266505.7	-	6	876	c.613G>A	c.(613-615)Gat>Aat	p.D205N	PLCZ1_ENST00000541695.1_Missense_Mutation_p.D68N|PLCZ1_ENST00000447925.2_Missense_Mutation_p.D203N|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000538330.1_5'UTR			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	205	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TGTGCTCCATCCCAGCAGTCA	0.373000													6	30					0	0	0.001168	0	0
OR4C16	219428	broad.mit.edu	37	11	55340494	55340494	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:55340494G>A	ENST00000314634.3	+	1	891	c.891G>A	c.(889-891)agG>agA	p.R297R		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTGCCATGAGGAAGCTTTGGA	0.358000													11	12					0	0	0.001368	0	0
FAM120C	54954	broad.mit.edu	37	X	54177717	54177717	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:54177717G>A	ENST00000375180.2	-	4	1175	c.1119C>T	c.(1117-1119)aaC>aaT	p.N373N	FAM120C_ENST00000328235.4_Silent_p.N373N	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	373										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTACATCCAGGTTTGAGGGAT	0.468000													35	13					0	0	0.005524	0	0
TNIK	23043	broad.mit.edu	37	3	170908526	170908526	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:170908526C>T	ENST00000436636.2	-	6	812	c.468G>A	c.(466-468)ggG>ggA	p.G156G	TNIK_ENST00000460047.1_Silent_p.G156G|TNIK_ENST00000475336.1_Silent_p.G156G|TNIK_ENST00000470834.1_Silent_p.G156G|TNIK_ENST00000357327.5_Silent_p.G156G|TNIK_ENST00000341852.6_Silent_p.G156G|TNIK_ENST00000538048.1_Silent_p.G156G|TNIK_ENST00000488470.1_Silent_p.G156G|TNIK_ENST00000284483.8_Silent_p.G156G|TNIK_ENST00000369326.5_Silent_p.G156G	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	156	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)			AGACATTTTGCCCTTTAATAT	0.418000													5	16					0	0	0.001168	0	0
SIN3A	25942	broad.mit.edu	37	15	75664325	75664325	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:75664325G>T	ENST00000394947.3	-	21	4131	c.3817C>A	c.(3817-3819)Cct>Act	p.P1273T	SIN3A_ENST00000360439.4_Missense_Mutation_p.P1273T|SIN3A_ENST00000394949.4_Missense_Mutation_p.P1273T	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1273					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGCAGTTAAGGGGCTTTGAAT	0.498000													21	35					1.10513e-12	2.31233e-12	0.002299	1	0
CSHL1	1444	broad.mit.edu	37	17	61987797	61987797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:61987797C>T	ENST00000450719.3	-	2	244	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	CSHL1_ENST00000346606.6_Missense_Mutation_p.E3K|CSHL1_ENST00000561003.1_Missense_Mutation_p.E14K|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Missense_Mutation_p.E14K|CSHL1_ENST00000392824.4_Silent_p.R166R|CSHL1_ENST00000309894.5_Missense_Mutation_p.E97K|CSHL1_ENST00000259003.10_Missense_Mutation_p.E35K			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	97						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TGCTGCGTTTCCTCCATGTTG	0.557000													57	76					0	0	0.003610	0	0
MSL3P1	151507	broad.mit.edu	37	2	234774899	234774899	+	RNA	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:234774899T>C	ENST00000438684.1	-	0	1215					NR_024322.1																						TCAAAGTGCTTCAATAAAGCC	0.428000													13	52					0	0	0.002450	0	0
LPHN2	23266	broad.mit.edu	37	1	82431863	82431863	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:82431863G>A	ENST00000370728.1	+	14	2772	c.2127G>A	c.(2125-2127)agG>agA	p.R709R	LPHN2_ENST00000319517.6_Silent_p.R696R|LPHN2_ENST00000370727.1_Silent_p.R709R|LPHN2_ENST00000370723.1_Silent_p.R696R|LPHN2_ENST00000359929.3_Silent_p.R696R|LPHN2_ENST00000370730.1_Silent_p.R709R|LPHN2_ENST00000370721.1_Silent_p.R634R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Silent_p.R709R|LPHN2_ENST00000370717.2_Silent_p.R709R|LPHN2_ENST00000271029.4_Silent_p.R709R|LPHN2_ENST00000370725.1_Silent_p.R709R|LPHN2_ENST00000370715.1_Silent_p.R696R|LPHN2_ENST00000370713.1_Silent_p.R696R|LPHN2_ENST00000394879.1_Silent_p.R696R			O95490	LPHN2_HUMAN	latrophilin 2	709					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)		AGAACAGCAGGAATGGTAAGG	0.363000													17	28					0	0	0.004007	0	0
CRP	1401	broad.mit.edu	37	1	159683763	159683763	+	Missense_Mutation	SNP	C	C	T	rs151273324		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:159683763C>T	ENST00000255030.5	-	2	330	c.227G>A	c.(226-228)aGa>aAa	p.R76K	CRP_ENST00000368111.1_Intron|CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000437342.1_Splice_Site	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	76	Pentaxin.			YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	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			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	ATTGTCTTGTCTCTTGGTGGC	0.448000													72	65					0	0	0.003610	0	0
RFX4	5992	broad.mit.edu	37	12	106995101	106995101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:106995101G>A	ENST00000357881.4	+	1	187	c.47G>A	c.(46-48)aGg>aAg	p.R16K	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000392842.1_Intron	NM_001206691.1	NP_001193620.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	0					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GACAGGACCAGGCCTCGACGG	0.672000													3	5					0	0	0.004672	0	0
F12	2161	broad.mit.edu	37	5	176829663	176829663	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:176829663T>C	ENST00000253496.3	-	13	1616	c.1568A>G	c.(1567-1569)cAg>cGg	p.Q523R	F12_ENST00000514943.1_5'UTR	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	523	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			GAACGGTACCTGCGCCTCCTG	0.662000									Hereditary Angioedema				11	14					0	0	0.001368	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721177	135721177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:135721177G>A	ENST00000264977.3	+	2	1454	c.837G>A	c.(835-837)atG>atA	p.M279I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	279					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						CTGTCTATATGAATGTAATGA	0.358000													7	17					0	0	0.000443	0	0
COL5A3	50509	broad.mit.edu	37	19	10099813	10099813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:10099813G>A	ENST00000264828.3	-	27	2217	c.2132C>T	c.(2131-2133)cCt>cTt	p.P711L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	711	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)			CACTCCCCGAGGTCCAGGATA	0.542000													36	37					0	0	0.002852	0	0
SUCO	51430	broad.mit.edu	37	1	172501763	172501763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:172501763G>A	ENST00000367723.3	+	1	275	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CTCAAAAGAGGAAAACAGTGC	0.493000													24	36					0	0	0.003330	0	0
LILRA3	11026	broad.mit.edu	37	19	54803096	54803096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54803096G>A	ENST00000391745.1	-	8	948	c.632C>T	c.(631-633)tCg>tTg	p.S211L	LILRA3_ENST00000251390.3_Missense_Mutation_p.S194L|LILRA3_ENST00000391744.3_Intron					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCACCTGTACGACCACCTGCG	0.587000													21	57					0	0	0.001523	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140866233	140866233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140866233G>A	ENST00000306593.1	+	1	1493	c.1493G>A	c.(1492-1494)aGg>aAg	p.R498K	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_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)			CTGGAGCCCAGGAATCGAGAT	0.532000													30	107					0	0	0.001786	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927047	111927047	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:111927047T>A	ENST00000305815.5	-	16	2216	c.1964A>T	c.(1963-1965)tAt>tTt	p.Y655F	SLC9C1_ENST00000487372.1_Missense_Mutation_p.Y607F	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	655	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTCTAGAATATAAAGTGTAAG	0.323000													45	109					0	0	0.003610	0	0
TMX4	56255	broad.mit.edu	37	20	7980462	7980462	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:7980462G>A	ENST00000246024.2	-	4	599	c.384C>T	c.(382-384)ttC>ttT	p.F128F	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	128	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GCAGGTCTTCGAAGATTCCTG	0.398000													8	22					0	0	0.004482	0	0
ARMCX5	64860	broad.mit.edu	37	X	101858321	101858321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:101858321G>A	ENST00000604957.1	+	1	3874	c.1252G>A	c.(1252-1254)Ggg>Agg	p.G418R	ARMCX5_ENST00000536530.1_Missense_Mutation_p.G418R|ARMCX5_ENST00000541409.1_Missense_Mutation_p.G418R|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.G418R|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.G418R|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G418R	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	418							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GAAATTACTAGGGCACTTGAG	0.388000													18	11					0	0	0.000958	0	0
ZNF592	9640	broad.mit.edu	37	15	85326475	85326475	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:85326475C>T	ENST00000299927.3	+	1	591	c.569C>T	c.(568-570)cCg>cTg	p.P190L	ZNF592_ENST00000560079.2_Missense_Mutation_p.P190L			Q92610	ZN592_HUMAN	zinc finger protein 592	190					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)			GCTAAGTTTCCGGTTCCAGAG	0.547000													51	87					0	0	0.003610	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65349981	65349981	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:65349981G>A	ENST00000284037.5	+	21	3224	c.2835G>A	c.(2833-2835)aaG>aaA	p.K945K	ERBB2IP_ENST00000380936.1_Silent_p.K945K|ERBB2IP_ENST00000508515.1_Silent_p.K945K|ERBB2IP_ENST00000380938.2_Silent_p.K945K|ERBB2IP_ENST00000380943.2_Silent_p.K945K|ERBB2IP_ENST00000506030.1_Silent_p.K945K|ERBB2IP_ENST00000380939.2_Silent_p.K945K|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Silent_p.K941K|ERBB2IP_ENST00000380935.1_Silent_p.K945K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	945					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAATTTTCAAGTTTGATTCAA	0.398000													20	28					0	0	0.000958	0	0
SLX4IP	128710	broad.mit.edu	37	20	10603430	10603430	+	Silent	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:10603430T>C	ENST00000334534.5	+	8	810	c.630T>C	c.(628-630)gcT>gcC	p.A210A		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		ATGGTCAGGCTTCCTCCAGTC	0.498000													25	41					0	0	0.001061	0	0
GINS4	84296	broad.mit.edu	37	8	41394708	41394708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:41394708C>T	ENST00000523277.2	+	4	360	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	GINS4_ENST00000520710.1_Missense_Mutation_p.L65F|RP11-360L9.4_ENST00000523081.1_RNA|GINS4_ENST00000518671.1_Missense_Mutation_p.L65F|GINS4_ENST00000276533.3_Missense_Mutation_p.L65F			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	65					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			GGAAGAAAATCTCAGGAGAGC	0.458000													10	18					0	0	0.000978	0	0
CSMD2	114784	broad.mit.edu	37	1	34080165	34080165	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:34080165G>A	ENST00000373381.4	-	40	6248	c.6072C>T	c.(6070-6072)ttC>ttT	p.F2024F	CSMD2_ENST00000373380.1_Silent_p.F897F|CSMD2_ENST00000373377.1_Silent_p.F123F|CSMD2_ENST00000373388.2_Silent_p.F123F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1984	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)				AGTTGCCTGGGAAGCCGGGGC	0.577000													10	23					0	0	0.000978	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085165	80085165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:80085165G>A	ENST00000466387.1	+	8	1049	c.325G>A	c.(325-327)Gag>Aag	p.E109K	CTNNA2_ENST00000496558.1_Missense_Mutation_p.E109K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E109K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E109K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E143K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E109K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	109					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGCCTCCTCCGAGTTTGCAGA	0.582000													37	60					0	0	0.002222	0	0
SBF1	6305	broad.mit.edu	37	22	50901026	50901026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:50901026G>A	ENST00000380817.2	-	18	2272	c.2089C>T	c.(2089-2091)Ctc>Ttc	p.L697F	SBF1_ENST00000348911.6_Missense_Mutation_p.L698F|SBF1_ENST00000390679.3_Missense_Mutation_p.L697F	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	697					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)		TCCAGGTAGAGGGCCCGGATG	0.687000													10	7					0	0	0.000673	0	0
SERPINI1	5274	broad.mit.edu	37	3	167510533	167510533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:167510533C>T	ENST00000295777.5	+	4	1068	c.637C>T	c.(637-639)Caa>Taa	p.Q213*	SERPINI1_ENST00000446050.2_Nonsense_Mutation_p.Q213*	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	213					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						AAGTGAAGTCCAAATTCCAAT	0.338000													17	50					0	0	0.002780	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799816	159799816	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:159799816C>T	ENST00000289707.5	+	2	350	c.201C>T	c.(199-201)tcC>tcT	p.S67S	SLAMF8_ENST00000368104.4_Intron|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	67						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TCCGAGGCTCCCTGGAGACTC	0.632000													35	186					0	0	0.005524	0	0
OTOA	146183	broad.mit.edu	37	16	21693134	21693134	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:21693134C>T	ENST00000388958.3	+	5	256	c.255C>T	c.(253-255)atC>atT	p.I85I	OTOA_ENST00000286149.4_Silent_p.I85I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	85					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CCTTCACCATCCCCAGCCTGC	0.537000													18	29					0	0	0.001523	0	0
GALK1	2584	broad.mit.edu	37	17	73759118	73759118	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:73759118G>A	ENST00000588479.1	-	4	1162	c.588C>T	c.(586-588)ggC>ggT	p.G196G	GALK1_ENST00000437911.1_Silent_p.G226G|GALK1_ENST00000225614.2_Silent_p.G196G			P51570	GALK1_HUMAN	galactokinase 1	196					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGCGCGTGGCCTTTCTGTC	0.652000													24	42					0	0	0.003954	0	0
ESPNL	339768	broad.mit.edu	37	2	239039894	239039894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:239039894C>T	ENST00000343063.3	+	9	2802	c.2539C>T	c.(2539-2541)Ccg>Tcg	p.P847S	ESPNL_ENST00000409169.1_Missense_Mutation_p.P803S|ESPNL_ENST00000409506.1_Missense_Mutation_p.P479S|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	847										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGACGGGGCTCCGGTGCCCTA	0.697000													3	3					0	0	0.004672	0	0
KANK4	163782	broad.mit.edu	37	1	62740018	62740018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:62740018G>A	ENST00000371153.4	-	3	1136	c.758C>T	c.(757-759)tCa>tTa	p.S253L	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	253	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ATTCTGGAATGAGAAAGGAGG	0.557000													14	34					0	0	0.002450	0	0
DNAH8	1769	broad.mit.edu	37	6	38816444	38816444	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:38816444A>T	ENST00000359357.3	+	35	4669	c.4415A>T	c.(4414-4416)aAa>aTa	p.K1472I	DNAH8_ENST00000441566.1_Missense_Mutation_p.K1472I|DNAH8_ENST00000449981.2_Missense_Mutation_p.K1689I					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						CCATTTAAAAAAAATATCCAG	0.343000													4	17					0	0	0.000602	0	0
FAN1	22909	broad.mit.edu	37	15	31202912	31202912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:31202912G>A	ENST00000362065.4	+	4	1762	c.1471G>A	c.(1471-1473)Gga>Aga	p.G491R	FAN1_ENST00000565466.1_Missense_Mutation_p.G491R|FAN1_ENST00000561594.1_Missense_Mutation_p.G491R|FAN1_ENST00000561607.1_Missense_Mutation_p.G491R	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	491					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GAATCCCAATGGACAGAAACA	0.468000								Direct reversal of damage					17	70					0	0	0.004990	0	0
SPDL1	54908	broad.mit.edu	37	5	169026118	169026118	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:169026118C>T	ENST00000265295.4	+	10	1558	c.1279C>T	c.(1279-1281)Ctg>Ttg	p.L427L		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AAATATGAAACTGAGAGCTAA	0.313000													13	42					0	0	0.004007	0	0
RXFP2	122042	broad.mit.edu	37	13	32366846	32366846	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:32366846C>T	ENST00000298386.2	+	16	1478	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	RXFP2_ENST00000380314.1_Silent_p.F445F	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	469						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTTACTTGTTCTTTGTTGGCA	0.453000													13	82					0	0	0.004007	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74206606	74206606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:74206606G>A	ENST00000286523.5	-	2	888	c.106C>T	c.(106-108)Cag>Tag	p.Q36*	ELMSAN1_ENST00000394071.2_Nonsense_Mutation_p.Q36*	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		ATGGACTGCTGGGGGGGCTGC	0.667000													38	31					0	0	0.001485	0	0
ZNF239	8187	broad.mit.edu	37	10	44052780	44052780	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:44052780G>A	ENST00000306006.6	-	2	1400	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	ZNF239_ENST00000426961.1_Silent_p.L250L|ZNF239_ENST00000535642.1_Silent_p.L250L|ZNF239_ENST00000374446.2_Silent_p.L250L	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGGATAAGCAGACTCGAGCTC	0.488000													28	59					0	0	0.001271	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248880	140248880	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140248880C>T	ENST00000398640.2	+	1	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_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)			AGCGCCTGTTCCGGGTGGCGT	0.617000													21	113					0	0	0.002299	0	0
KHDC3L	154288	broad.mit.edu	37	6	74072857	74072857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:74072857C>T	ENST00000370367.3	+	2	262	c.209C>T	c.(208-210)tCc>tTc	p.S70F		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		CAGGGTATGTCCCAAATCTTG	0.592000													47	45					0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21225679	21225679	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:21225679C>T	ENST00000233242.1	-	29	12742	c.12615G>A	c.(12613-12615)ccG>ccA	p.P4205P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4205					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)	CAGGTTTCCCCGGAAACTGGA	0.433000													82	77					0	0	0.003610	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716537	39716537	+	Missense_Mutation	SNP	T	T	G	rs144276859		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:39716537T>G	ENST00000553728.1	+	4	972	c.759T>G	c.(757-759)agT>agG	p.S253R	MIA2_ENST00000556784.1_Missense_Mutation_p.S252R|MIA2_ENST00000280082.3_Missense_Mutation_p.S253R																							CATTTCGGAGTAGAAAAATAG	0.388000													7	39					0	0	0.001984	0	0
PCBP3	54039	broad.mit.edu	37	21	47359986	47359986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:47359986G>A	ENST00000400314.1	+	15	1290	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	PCBP3_ENST00000400308.1_Missense_Mutation_p.E292K|PCBP3_ENST00000400309.1_Missense_Mutation_p.E317K|PCBP3_ENST00000400310.1_Missense_Mutation_p.E298K|PCBP3_ENST00000449640.1_Missense_Mutation_p.E318K|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Missense_Mutation_p.E308K			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	318	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAAAATCAATGAAATTCGACA	0.527000													11	42					0	0	0.001368	0	0
FAM122C	159091	broad.mit.edu	37	X	133941576	133941576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:133941576C>T	ENST00000414371.2	+	3	229	c.56C>T	c.(55-57)tCc>tTc	p.S19F	FAM122C_ENST00000370785.3_5'UTR|FAM122C_ENST00000475361.1_3'UTR|FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370784.4_5'UTR	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	0										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					GTAGACTTGTCCTTGTGTGGA	0.522000													32	19					0	0	0.002836	0	0
ATP5O	539	broad.mit.edu	37	21	35275880	35275880	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:35275880C>A	ENST00000290299.2	-	7	808	c.592G>T	c.(592-594)Gtc>Ttc	p.V198F	AP000304.12_ENST00000429238.1_Intron	NM_001697.2	NP_001688.1			ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit											large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						TTGGTCTTGACAGACATGTCA	0.433000													13	35					9.16793e-09	1.90814e-08	0.004990	1	0
HTT	3064	broad.mit.edu	37	4	3123107	3123107	+	Silent	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:3123107T>C	ENST00000355072.5	+	9	1366	c.1221T>C	c.(1219-1221)gcT>gcC	p.A407A		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	407					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)		TCACCGCTGCTAAGGAGGAGT	0.542000													24	73					0	0	0.001061	0	0
SNRNP40	9410	broad.mit.edu	37	1	31742085	31742085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:31742085G>A	ENST00000263694.4	-	7	796	c.778C>T	c.(778-780)Cgt>Tgt	p.R260C	SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Missense_Mutation_p.R260C|SNRNP40_ENST00000373720.3_Missense_Mutation_p.R30C	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	260						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						TCCCAGACACGAACTGCAAAA	0.448000													40	82					0	0	0.002222	0	0
CACTIN	58509	broad.mit.edu	37	19	3623989	3623989	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:3623989G>A	ENST00000429344.2	-	2	391	c.339C>T	c.(337-339)tcC>tcT	p.S113S	CACTIN_ENST00000248420.5_Silent_p.S113S|CACTIN_ENST00000221899.3_Silent_p.S45S	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		TGGATGCTGAGGAGCTAGGAG	0.711000													4	13					0	0	0.000248	0	0
GLRX3	10539	broad.mit.edu	37	10	131959077	131959077	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:131959077C>T	ENST00000368644.1	+	4	316	c.294C>T	c.(292-294)gaC>gaT	p.D98D	GLRX3_ENST00000331244.5_Silent_p.D98D	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	98	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		AGAAAATCGACCGATTAGATG	0.378000													11	37					0	0	0.000978	0	0
PADI2	11240	broad.mit.edu	37	1	17395573	17395573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:17395573G>A	ENST00000375486.4	-	16	2027	c.1964C>T	c.(1963-1965)cCc>cTc	p.P655L	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.P539L	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	655					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GAAGGTGAAGGGCTTCCTGCG	0.602000													6	65					0	0	0.001984	0	0
C3	718	broad.mit.edu	37	19	6679196	6679196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:6679196C>T	ENST00000245907.6	-	38	4662	c.4570G>A	c.(4570-4572)Gat>Aat	p.D1524N	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1524	NTR.				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)		ACCTTGTCATCCGACTTTTGT	0.572000													4	36					0	0	0.000248	0	0
PPEF2	5470	broad.mit.edu	37	4	76797736	76797736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:76797736C>T	ENST00000286719.7	-	11	1380	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	342	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGGATGGGTCCCTGTGCAGAG	0.542000													18	19					0	0	0.000958	0	0
WNT2	7472	broad.mit.edu	37	7	116937720	116937720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:116937720C>T	ENST00000265441.3	-	4	1098	c.799G>A	c.(799-801)Gac>Aac	p.D267N		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	267					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TACACGAGGTCATTTTTCGTT	0.438000													28	67					0	0	0.001786	0	0
WDR75	84128	broad.mit.edu	37	2	190334817	190334817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:190334817C>T	ENST00000314761.4	+	17	1895	c.1835C>T	c.(1834-1836)cCt>cTt	p.P612L		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	612						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GTATTTAAACCTAGTGAGCCA	0.423000													15	48					0	0	0.004007	0	0
NUP210L	91181	broad.mit.edu	37	1	153995689	153995689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:153995689C>T	ENST00000368559.3	-	31	4278	c.4207G>A	c.(4207-4209)Ggc>Agc	p.G1403S	NUP210L_ENST00000271854.3_Missense_Mutation_p.G1403S|NUP210L_ENST00000368553.1_Missense_Mutation_p.G336S	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1403						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGAGACATGCCCAAGGGAAAT	0.483000													33	102					0	0	0.003755	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620279	144620279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:144620279G>A	ENST00000262577.5	-	2	1289	c.1258C>T	c.(1258-1260)Cca>Tca	p.P420S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	420					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)			CCTACTGCTGGTCTGTCCCCC	0.627000													17	47					0	0	0.000958	0	0
BEGAIN	57596	broad.mit.edu	37	14	101004369	101004369	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:101004369G>A	ENST00000556751.1	-	5	4931	c.1527C>T	c.(1525-1527)ggC>ggT	p.G509G	BEGAIN_ENST00000355173.2_Silent_p.G573G|BEGAIN_ENST00000443071.2_Silent_p.G573G			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	573						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCAGCCCCGAGCCACCAGTCC	0.687000													6	5					0	0	0.001984	0	0
NF1	4763	broad.mit.edu	37	17	29665053	29665053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:29665053C>T	ENST00000358273.4	+	45	7098	c.6715C>T	c.(6715-6717)Caa>Taa	p.Q2239*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q2218*|NF1_ENST00000444181.2_Nonsense_Mutation_p.Q32*|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2239					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.?(3)	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)		ATTTGCATTCCAATATAATCC	0.328000			"""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)			47	31					0	0	0.003214	0	0
URB2	9816	broad.mit.edu	37	1	229772297	229772297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:229772297C>T	ENST00000258243.2	+	4	2073	c.1937C>T	c.(1936-1938)tCg>tTg	p.S646L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	646						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AACCTCCCTTCGTTGCTCCCA	0.478000													82	287					0	0	0.003610	0	0
IGSF9	57549	broad.mit.edu	37	1	159897575	159897575	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:159897575G>A	ENST00000368094.1	-	20	3530	c.3333C>T	c.(3331-3333)ctC>ctT	p.L1111L	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.L1095L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1111						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)			CTTCAGGTCTGAGCCGGGAGC	0.592000													29	81					0	0	0.001061	0	0
SMYD5	10322	broad.mit.edu	37	2	73449921	73449921	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:73449921C>T	ENST00000389501.4	+	7	726	c.681C>T	c.(679-681)gcC>gcT	p.A227A		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	227							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TCACAGAGGCCCTCTATGAGG	0.557000													4	23					0	0	0.000602	0	0
VSTM4	196740	broad.mit.edu	37	10	50315832	50315832	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:50315832C>T	ENST00000332853.3	-	2	287	c.264G>A	c.(262-264)ggG>ggA	p.G88G	VSTM4_ENST00000298454.3_Silent_p.G88G	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	88	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGCTGAAATTCCCATAGTACT	0.627000													14	38					0	0	0.003163	0	0
OR2V2	285659	broad.mit.edu	37	5	180582567	180582567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:180582567C>T	ENST00000328275.1	+	1	625	c.625C>T	c.(625-627)Ctc>Ttc	p.L209F		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCATGCTTCTCTTCCCATT	0.498000													23	145					0	0	0.003954	0	0
TOX2	84969	broad.mit.edu	37	20	42682973	42682973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:42682973G>A	ENST00000358131.5	+	5	921	c.713G>A	c.(712-714)gGa>gAa	p.G238E	TOX2_ENST00000423191.1_Missense_Mutation_p.G187E|TOX2_ENST00000372999.1_Missense_Mutation_p.G187E|TOX2_ENST00000341197.3_Missense_Mutation_p.G229E|TOX2_ENST00000435864.2_Missense_Mutation_p.G107E	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCCGACCCAGGAAAAAAGGCC	0.537000													9	14					0	0	0.000978	0	0
GPR116	221395	broad.mit.edu	37	6	46827023	46827023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:46827023G>A	ENST00000283296.7	-	17	2905	c.2617C>T	c.(2617-2619)Cca>Tca	p.P873S	GPR116_ENST00000362015.4_Missense_Mutation_p.P873S|GPR116_ENST00000545669.1_Missense_Mutation_p.P302S|GPR116_ENST00000265417.7_Missense_Mutation_p.P873S|GPR116_ENST00000456426.2_Missense_Mutation_p.P731S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	873					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P873S(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCAAAGTATGGGAAAACAAAC	0.463000													15	44					0	0	0.004007	0	0
ZNF366	167465	broad.mit.edu	37	5	71752399	71752399	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:71752399C>T	ENST00000318442.5	-	3	1846	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCCCACAAATCCCACACTTAT	0.517000													12	79					0	0	0.000978	0	0
ADH1B	125	broad.mit.edu	37	4	100237445	100237445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:100237445G>A	ENST00000305046.8	-	4	341	c.274C>T	c.(274-276)Ccg>Tcg	p.P92S	ADH1B_ENST00000394887.3_Missense_Mutation_p.P52S			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	92					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTAAAGAGCGGGATGACTTTA	0.373000													12	13					0	0	0.002450	0	0
CEP350	9857	broad.mit.edu	37	1	180063583	180063583	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:180063583C>T	ENST00000367607.3	+	34	8761	c.8343C>T	c.(8341-8343)atC>atT	p.I2781I	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2781						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						ATGAGAAAATCCAGCTTAGCA	0.388000													27	20					0	0	0.001061	0	0
CABIN1	23523	broad.mit.edu	37	22	24563146	24563146	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:24563146C>T	ENST00000398319.2	+	32	5932	c.5547C>T	c.(5545-5547)ctC>ctT	p.L1849L	CABIN1_ENST00000337989.7_Silent_p.L274L|CABIN1_ENST00000263119.5_Silent_p.L1849L|CABIN1_ENST00000405822.2_Silent_p.L1770L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1849					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAGGAAGCTCCTGGAGGACA	0.692000													12	20					0	0	0.001855	0	0
PDE10A	10846	broad.mit.edu	37	6	165957014	165957014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:165957014G>A	ENST00000366882.1	-	3	234	c.80C>T	c.(79-81)cCc>cTc	p.P27L	PDE10A_ENST00000354448.4_Missense_Mutation_p.P27L|PDE10A_ENST00000539869.2_Missense_Mutation_p.P37L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	27					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TAATACCTGGGGGTGAAGAGA	0.353000													22	38					0	0	0.001882	0	0
PTPRT	11122	broad.mit.edu	37	20	40747085	40747085	+	Silent	SNP	G	G	A	rs34284587		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:40747085G>A	ENST00000373198.3	-	22	3241	c.3006C>T	c.(3004-3006)tcC>tcT	p.S1002S	PTPRT_ENST00000373184.1_Silent_p.S970S|PTPRT_ENST00000373187.1_Silent_p.S980S|PTPRT_ENST00000373190.1_Silent_p.S979S|PTPRT_ENST00000356100.2_Silent_p.S989S|PTPRT_ENST00000373193.3_Silent_p.S983S|PTPRT_ENST00000373201.1_Silent_p.S970S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	980	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.S1002S(1)		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)				CGATGCTGGCGGAGTTCTCCT	0.537000													33	55					0	0	0.001706	0	0
GRM7	2917	broad.mit.edu	37	3	7721852	7721852	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:7721852C>T	ENST00000486284.1	+	9	2842	c.2568C>T	c.(2566-2568)gtC>gtT	p.V856V	GRM7_ENST00000403881.1_Silent_p.V856V|GRM7_ENST00000402647.2_Silent_p.V856V|GRM7_ENST00000389336.4_Silent_p.V856V|GRM7_ENST00000357716.4_Silent_p.V856V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	856					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AACTCAATGTCCAGAAACGGA	0.512000													20	35					0	0	0.002299	0	0
GZMA	3001	broad.mit.edu	37	5	54403633	54403633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:54403633C>T	ENST00000274306.6	+	3	262	c.227C>T	c.(226-228)tCc>tTc	p.S76F		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	76	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AACAAAAGGTCCCAGGTCATT	0.403000													13	23					0	0	0.003163	0	0
TCHH	7062	broad.mit.edu	37	1	152082159	152082159	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:152082159C>T	ENST00000368804.1	-	2	3533	c.3534G>A	c.(3532-3534)caG>caA	p.Q1178Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1178	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcttcctcctgctgcagct	0.602000													16	21					0	0	0.004990	0	0
OR2M5	127059	broad.mit.edu	37	1	248308997	248308997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:248308997C>T	ENST00000366476.1	+	1	548	c.548C>T	c.(547-549)tCc>tTc	p.S183F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GACTTCCCTTCCCTACTAATC	0.418000													25	137					0	0	0.003330	0	0
FZD4	8322	broad.mit.edu	37	11	86666029	86666029	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:86666029C>T	ENST00000531380.1	-	1	404	c.99G>A	c.(97-99)ccG>ccA	p.P33P		NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	33			P -> S (in EVR1).		canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCCCCGCGCCGGCCCCAGGA	0.716000													10	26					0	0	0.002450	0	0
ESYT3	83850	broad.mit.edu	37	3	138184241	138184241	+	Missense_Mutation	SNP	G	G	A	rs146734321	by1000genomes	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:138184241G>A	ENST00000389567.4	+	10	1333	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	383	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGAGGATACCGACAGGGATGA	0.592000													67	129					0	0	0.003610	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485076	97485076	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:97485076A>G	ENST00000376705.2	+	2	1064	c.1040A>G	c.(1039-1041)aAc>aGc	p.N347S		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	347						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)					AACCTGAAGAACATGGCCTTC	0.473000													6	61					0	0	0.001168	0	0
RNF212	285498	broad.mit.edu	37	4	1090587	1090587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:1090587C>T	ENST00000382968.5	-	3	309	c.212G>A	c.(211-213)aGt>aAt	p.S71N	RNF212_ENST00000433731.2_Missense_Mutation_p.S71N|RNF212_ENST00000333673.5_Missense_Mutation_p.S71N	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	ring finger protein 212	71							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CTTACACAGACTGTCTATGCT	0.502000													78	398					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9082925	9082925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9082925C>T	ENST00000397910.4	-	1	9093	c.8890G>A	c.(8890-8892)Gga>Aga	p.G2964R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2965	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						GAGGCAGATCCCTCAGGGGTT	0.502000													38	55					0	0	0.005524	0	0
OR51M1	390059	broad.mit.edu	37	11	5410645	5410645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:5410645C>T	ENST00000328611.3	+	1	39	c.17C>T	c.(16-18)tCg>tTg	p.S6L	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	6						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCAATATTCGCTCAGTCCT	0.403000													29	121					0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179579257	179579257	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179579257G>A	ENST00000589042.1	-	91	26468	c.26244C>T	c.(26242-26244)gtC>gtT	p.V8748V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V8431V|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.V7504V|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8431	Ig-like 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V7504V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTACCAACGACAGTAGATA	0.423000													4	10					0	0	0.000248	0	0
HIF3A	64344	broad.mit.edu	37	19	46825223	46825223	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:46825223G>A	ENST00000339613.2	+	10	1422	c.1167_splice	c.e10+1	p.S389_splice	HIF3A_ENST00000377670.4_Splice_Site_p.S445_splice|HIF3A_ENST00000600383.1_Splice_Site_p.S376_splice|HIF3A_ENST00000472815.1_Splice_Site_p.S376_splice|HIF3A_ENST00000300862.3_Splice_Site_p.S443_splice|HIF3A_ENST00000420102.2_Splice_Site_p.S394_splice|HIF3A_ENST00000244303.6_Splice_Site_p.S376_splice|AC007193.10_ENST00000596807.1_RNA			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GTCCTCTTTCGGTAAGCCATC	0.622000													8	18					0	0	0.000443	0	0
DGAT2	84649	broad.mit.edu	37	11	75508276	75508276	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:75508276C>T	ENST00000228027.7	+	6	968	c.708C>T	c.(706-708)atC>atT	p.I236I	DGAT2_ENST00000376262.3_Silent_p.I193I	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	236					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CTATCATCATCGTGGTCGGGG	0.567000													37	47					0	0	0.004878	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095318	107095318	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:107095318G>A	ENST00000390630.2	-	0	262																											TCCAGCTCCAGTAGTAACCAC	0.597000													24	23					0	0	0.003954	0	0
HADHB	3032	broad.mit.edu	37	2	26501657	26501657	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:26501657C>T	ENST00000317799.5	+	8	722	c.618C>T	c.(616-618)ttC>ttT	p.F206F	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Silent_p.F184F|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000537713.1_Silent_p.F191F	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	206					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTTAATTTCCTAGCACCTG	0.428000													32	26					0	0	0.003271	0	0
CD207	50489	broad.mit.edu	37	2	71060970	71060970	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:71060970C>T	ENST00000410009.3	-	3	417	c.372G>A	c.(370-372)ctG>ctA	p.L124L		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	124					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						TTTTTAACTTCAGGAACTGAG	0.448000													28	22					0	0	0.001512	0	0
KRI1	65095	broad.mit.edu	37	19	10664854	10664854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:10664854G>A	ENST00000312962.6	-	19	1922	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S	KRI1_ENST00000361821.5_Missense_Mutation_p.P631S	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	635										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGTGCTGGGGGACTCTCCGGC	0.647000													20	69					0	0	0.001523	0	0
TENM2	57451	broad.mit.edu	37	5	167643915	167643915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:167643915G>A	ENST00000519204.1	+	21	3976	c.3858G>A	c.(3856-3858)atG>atA	p.M1286I	TENM2_ENST00000545108.1_Missense_Mutation_p.M1406I|TENM2_ENST00000518659.1_Missense_Mutation_p.M1407I|TENM2_ENST00000403607.2_Missense_Mutation_p.M1231I|TENM2_ENST00000520394.1_Missense_Mutation_p.M1168I					teneurin transmembrane protein 2																		ATTCCAGCATGGATGTAGCCC	0.532000													36	45					0	0	0.002222	0	0
LRP12	29967	broad.mit.edu	37	8	105503244	105503244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:105503244C>T	ENST00000276654.5	-	7	2345	c.2237G>A	c.(2236-2238)cGa>cAa	p.R746Q	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.R727Q	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	746					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGAACTTGATCGTCCTAATGT	0.458000													17	48					0	0	0.001882	0	0
DHX34	9704	broad.mit.edu	37	19	47882968	47882968	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:47882968C>T	ENST00000328771.4	+	14	3057	c.2706_splice	c.e14-1	p.S903_splice		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	903						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CTCTTTCAGTCCCTCCTGCTT	0.642000													13	81					0	0	0.002450	0	0
SNHG16	100507246	broad.mit.edu	37	17	74557741	74557741	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:74557741C>T	ENST00000364968.1	+	0	26																											TTAGTTATCCCTGTCTGAAAA	0.363000													38	72					0	0	0.002522	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564472	46564472	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:46564472C>T	ENST00000458649.2	-	7	1513	c.1095G>A	c.(1093-1095)ctG>ctA	p.L365L	AMBRA1_ENST00000534300.1_Silent_p.L365L|AMBRA1_ENST00000533727.1_Silent_p.L275L|AMBRA1_ENST00000298834.3_Silent_p.L365L|AMBRA1_ENST00000314845.3_Silent_p.L275L|AMBRA1_ENST00000426438.1_Silent_p.L365L|AMBRA1_ENST00000528950.1_Silent_p.L365L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	365					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ACGGCCGGTTCAGGAGGCCCT	0.627000													36	109					0	0	0.002852	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515271	233515271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:233515271C>T	ENST00000366624.3	+	9	2780	c.2519C>T	c.(2518-2520)cCc>cTc	p.P840L	MLK4_ENST00000366622.1_Missense_Mutation_p.P286L	NM_032435.2	NP_115811.2																					GATTTTTGTCCCACTGCCCCA	0.517000													19	71					0	0	0.003330	0	0
NOS1	4842	broad.mit.edu	37	12	117672437	117672437	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:117672437C>T	ENST00000317775.6	-	21	3853	c.3168G>A	c.(3166-3168)ctG>ctA	p.L1056L	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.L1090L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1056	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCGCGTCCTCCAGCCGCTCGA	0.622000													8	41					0	0	0.004482	0	0
COL28A1	340267	broad.mit.edu	37	7	7530255	7530255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:7530255G>A	ENST00000399429.3	-	12	1189	c.1049C>T	c.(1048-1050)cCt>cTt	p.P350L		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	350	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGAACCATAAGGACCAGGAGG	0.433000													6	20					0	0	0.003080	0	0
BACH1	571	broad.mit.edu	37	21	30693685	30693685	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:30693685G>A	ENST00000399921.1	+	2	327	c.84G>A	c.(82-84)cgG>cgA	p.R28R	BACH1_ENST00000286800.3_Silent_p.R28R	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	28						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						ATGACCAGCGGAAGAAAGATG	0.493000													26	62					0	0	0.001271	0	0
PABPC4	8761	broad.mit.edu	37	1	40036968	40036968	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:40036968G>A	ENST00000372857.3	-	3	1233	c.441C>T	c.(439-441)acC>acT	p.T147T	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Silent_p.T147T|PABPC4_ENST00000372858.3_Silent_p.T147T|PABPC4_ENST00000372862.3_Silent_p.T147T	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	147	RRM 2.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-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;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCCTCTTGGGTCTCGAAGT	0.542000													69	118					0	0	0.003610	0	0
ATXN1	6310	broad.mit.edu	37	6	16327052	16327052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:16327052G>A	ENST00000244769.4	-	8	2426	c.1490C>T	c.(1489-1491)aCt>aTt	p.T497I	ATXN1_ENST00000436367.1_Missense_Mutation_p.T497I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	497	Self-association.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCCATGTCAGTGCTGCCGAC	0.662000													70	77					0	0	0.003610	0	0
IKBKE	9641	broad.mit.edu	37	1	206651542	206651542	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:206651542C>T	ENST00000367120.3	+	9	1225	c.852C>T	c.(850-852)atC>atT	p.I284I	IKBKE_ENST00000537984.1_Silent_p.I199I|IKBKE_ENST00000462698.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	284	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TGGCCAACATCCTGGAGGTGG	0.622000													33	31					0	0	0.002445	0	0
GABRQ	55879	broad.mit.edu	37	X	151821304	151821304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:151821304G>A	ENST00000370306.2	+	9	1479	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	487						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			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)					CAACCGTGTCGAAGCCCATGG	0.557000													78	23					0	0	0.003610	0	0
OR10K1	391109	broad.mit.edu	37	1	158435677	158435677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158435677C>T	ENST00000289451.2	+	1	406	c.326C>T	c.(325-327)tCc>tTc	p.S109F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCTTTGGCTCCTCTCACTCC	0.517000													22	92					0	0	0.003954	0	0
GPT	2875	broad.mit.edu	37	8	145731980	145731980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:145731980G>A	ENST00000394955.2	+	9	1451	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	GPT_ENST00000528431.1_Missense_Mutation_p.G410S	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	410					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCCAGTGCAGGGCGCCATGTA	0.716000													4	4					0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	8994429	8994429	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:8994429G>A	ENST00000397910.4	-	64	41666	c.41463C>T	c.(41461-41463)gtC>gtT	p.V13821V	MUC16_ENST00000380951.5_Silent_p.V462V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13824	SEA 12.			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						GGCCCTGAAGGACCCTCTCTG	0.537000													24	130					0	0	0.003330	0	0
CSMD3	114788	broad.mit.edu	37	8	113267561	113267561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:113267561G>A	ENST00000297405.5	-	62	10202	c.9958C>T	c.(9958-9960)Cct>Tct	p.P3320S	CSMD3_ENST00000352409.3_Missense_Mutation_p.P3250S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3151S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3280S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3320	Sushi 26.					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						AATATGAAAGGAAAATTGCAG	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	19					0	0	0.000673	0	0
FBP2	8789	broad.mit.edu	37	9	97321385	97321385	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:97321385C>T	ENST00000375337.3	-	7	921	c.855G>A	c.(853-855)gtG>gtA	p.V285V	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	285					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TGATGTAGGCCACGGGATTGC	0.587000													23	21					0	0	0.003330	0	0
DDX55	57696	broad.mit.edu	37	12	124091996	124091996	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:124091996C>T	ENST00000238146.4	+	4	314	c.264C>T	c.(262-264)atC>atT	p.I88I	DDX55_ENST00000538744.1_Silent_p.I88I	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	88	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CCATAATCATCACCCCCACTC	0.547000													12	16					0	0	0.001855	0	0
ZNF235	9310	broad.mit.edu	37	19	44791542	44791542	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:44791542G>A	ENST00000291182.4	-	5	2148	c.2046C>T	c.(2044-2046)ccC>ccT	p.P682P	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GACACGTATAGGGTTTCTCTC	0.493000													13	27					0	0	0.001855	0	0
ACSS3	79611	broad.mit.edu	37	12	81627128	81627128	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:81627128G>A	ENST00000548058.1	+	13	2507	c.1596_splice	c.e13-1	p.G533_splice	ACSS3_ENST00000261206.3_Splice_Site_p.G532_splice|ACSS3_ENST00000548324.1_Splice_Site_p.G215_splice			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	533						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTGTTTTCAGGGATATTATGA	0.313000													3	7					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179444698	179444698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179444698G>A	ENST00000589042.1	-	318	67540	c.67316C>T	c.(67315-67317)cCc>cTc	p.P22439L	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P20798L|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13374L|TTN_ENST00000359218.5_Missense_Mutation_p.P13499L|TTN_ENST00000342992.6_Missense_Mutation_p.P19871L|TTN_ENST00000342175.6_Missense_Mutation_p.P13566L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20798	Ig-like 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)			AGTTTCACCGGGATCACCAAT	0.428000													11	31					0	0	0.000978	0	0
CD86	942	broad.mit.edu	37	3	121825205	121825205	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:121825205G>A	ENST00000330540.2	+	4	677	c.561G>A	c.(559-561)caG>caA	p.Q187Q	CD86_ENST00000469710.1_Silent_p.Q105Q|CD86_ENST00000493101.1_Silent_p.Q75Q|CD86_ENST00000393627.2_Silent_p.Q181Q|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	187	Ig-like C2-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GTGTTATGCAGAAATCTCAAG	0.398000													36	59					0	0	0.004289	0	0
INF2	64423	broad.mit.edu	37	14	105174795	105174795	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:105174795C>T	ENST00000392634.4	+	9	1870	c.1758C>T	c.(1756-1758)tcC>tcT	p.S586S	INF2_ENST00000330634.7_Silent_p.S586S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	586	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGTGGGCGTCCCTGAGCAGCC	0.677000											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	40					0	0	0.003954	0	0
TRPC6	7225	broad.mit.edu	37	11	101374855	101374855	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:101374855C>A	ENST00000344327.3	-	2	1269	c.845G>T	c.(844-846)aGt>aTt	p.S282I	TRPC6_ENST00000532133.1_Missense_Mutation_p.S282I|TRPC6_ENST00000360497.4_Missense_Mutation_p.S282I|TRPC6_ENST00000348423.4_Missense_Mutation_p.S282I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	282					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTAAGCCGGACTTGCCAGGCC	0.438000													36	51					1.07121e-22	2.2563e-22	0.001485	1	0
SERPINA11	256394	broad.mit.edu	37	14	94914675	94914675	+	Missense_Mutation	SNP	C	C	T	rs113919455	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:94914675C>T	ENST00000334708.3	-	2	501	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	146					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AGGCTTTAGTCGCTTGTCTAG	0.527000													45	158					0	0	0.002522	0	0
LPAR3	23566	broad.mit.edu	37	1	85331159	85331159	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:85331159C>T	ENST00000440886.1	-	1	683	c.645G>A	c.(643-645)agG>agA	p.R215R	LPAR3_ENST00000370611.3_Silent_p.R215R|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	215					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CGTTGGTTTTCCTCTTGACGT	0.502000													18	42					0	0	0.001882	0	0
SSTR4	6754	broad.mit.edu	37	20	23016549	23016549	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:23016549C>T	ENST00000255008.3	+	1	493	c.429C>T	c.(427-429)gaC>gaT	p.D143D	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	143					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCAGCGTGGACCGCTACGTGG	0.687000													20	37					0	0	0.001523	0	0
ATMIN	23300	broad.mit.edu	37	16	81077961	81077961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:81077961C>T	ENST00000566488.1	+	3	2353	c.1390C>T	c.(1390-1392)Cct>Tct	p.P464S	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.P464S|ATMIN_ENST00000299575.4_Missense_Mutation_p.P620S			O43313	ATMIN_HUMAN	ATM interactor	620					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAATCCTGGACCTGACACCCA	0.438000													15	26					0	0	0.004007	0	0
PER2	8864	broad.mit.edu	37	2	239161848	239161848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:239161848G>A	ENST00000254657.3	-	19	3095	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	939	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGCCATCTCGGATGTGAGTGT	0.642000													19	60					0	0	0.000958	0	0
HABP2	3026	broad.mit.edu	37	10	115335753	115335753	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:115335753G>T	ENST00000351270.3	+	4	417	c.321G>T	c.(319-321)aaG>aaT	p.K107N	HABP2_ENST00000537906.1_Missense_Mutation_p.S96I|HABP2_ENST00000542051.1_Missense_Mutation_p.K81N|HABP2_ENST00000541666.1_Missense_Mutation_p.K107N	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	107	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CTGGGAATAAGTGTCAGAAAG	0.537000													16	35					9.16793e-09	1.90814e-08	0.004990	1	0
PDE1C	5137	broad.mit.edu	37	7	31864483	31864483	+	Silent	SNP	C	C	T	rs140362011		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:31864483C>T	ENST00000396184.3	-	14	1608	c.1404G>A	c.(1402-1404)tcG>tcA	p.S468S	PDE1C_ENST00000321453.7_Silent_p.S468S|PDE1C_ENST00000396182.2_Silent_p.S468S|PDE1C_ENST00000396191.1_Silent_p.S468S|PDE1C_ENST00000396193.1_Silent_p.S528S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	468	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.S468S(3)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCACTGACCTCGAACGCCTCT	0.507000													15	21					0	0	0.002450	0	0
EEF2	1938	broad.mit.edu	37	19	3977900	3977900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:3977900G>A	ENST00000309311.6	-	12	2072	c.1984C>T	c.(1984-1986)Ctc>Ttc	p.L662F		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	662						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTCGGTGAGGATGTTGGGG	0.647000													13	57					0	0	0.002450	0	0
NDFIP1	80762	broad.mit.edu	37	5	141520143	141520143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:141520143C>T	ENST00000253814.4	+	6	981	c.511C>T	c.(511-513)Cct>Tct	p.P171S		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	171					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTATTTCCCTGGATATTT	0.323000													53	72					0	0	0.003610	0	0
FAT3	120114	broad.mit.edu	37	11	92086290	92086290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:92086290C>T	ENST00000298047.6	+	1	1029	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	FAT3_ENST00000525166.1_Missense_Mutation_p.P188S|FAT3_ENST00000541502.1_Missense_Mutation_p.P338S|FAT3_ENST00000409404.2_Missense_Mutation_p.P338S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	338	Cadherin 3.				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)				GGAGAGCTTTCCCTATGGCTA	0.453000										TCGA Ovarian(4;0.039)			36	129					0	0	0.004289	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204218005	204218005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:204218005C>T	ENST00000272203.3	-	12	2084	c.1768G>A	c.(1768-1770)Gat>Aat	p.D590N	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.D610N	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	590										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)			TGCAGTGAATCCTTTTTGTGT	0.582000													12	49					0	0	0.003163	0	0
ADAM22	53616	broad.mit.edu	37	7	87774745	87774745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:87774745G>A	ENST00000398204.4	+	17	1731	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R	ADAM22_ENST00000398201.4_Missense_Mutation_p.G470R|ADAM22_ENST00000398209.3_Missense_Mutation_p.G470R|ADAM22_ENST00000265727.7_Missense_Mutation_p.G470R|ADAM22_ENST00000315984.7_Missense_Mutation_p.G470R	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	470	Disintegrin.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGTCCTTGAAGGAGCAGAGTG	0.348000													17	64					0	0	0.001216	0	0
RYR1	6261	broad.mit.edu	37	19	38966003	38966003	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:38966003G>A	ENST00000355481.4	+	29	4337	c.4206G>A	c.(4204-4206)ccG>ccA	p.P1402P	RYR1_ENST00000359596.3_Silent_p.P1402P|RYR1_ENST00000360985.3_Silent_p.P1402P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1402	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCAGCCACCGGCCACCCCCA	0.622000													3	3					0	0	0.004672	0	0
LPL	4023	broad.mit.edu	37	8	19805791	19805791	+	Silent	SNP	C	C	T	rs114726797	by1000genomes	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:19805791C>T	ENST00000311322.8	+	2	659	c.189C>T	c.(187-189)tcC>tcT	p.S63S	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	63					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TAGCAGAGTCCGTGGCTACCT	0.502000													14	39					0	0	0.002450	0	0
MXD1	4084	broad.mit.edu	37	2	70143267	70143267	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:70143267T>C	ENST00000264444.2	+	2	348	c.88T>C	c.(88-90)Tat>Cat	p.Y30H	MXD1_ENST00000540449.1_Missense_Mutation_p.Y30H	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	30					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TGAACATGGTTATGCCTCCAT	0.373000													9	16					0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179480180	179480180	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179480180C>T	ENST00000589042.1	-	259	48716	c.48492G>A	c.(48490-48492)tgG>tgA	p.W16164*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W14523*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W7099*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W7224*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W13596*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W7291*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14523	Fibronectin type-III 17.						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)			TTCGATCTCTCCATTTAACAT	0.443000													7	44					0	0	0.003080	0	0
TRANK1	9881	broad.mit.edu	37	3	36872497	36872497	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:36872497G>A	ENST00000301807.6	-	21	8692	c.6795C>T	c.(6793-6795)atC>atT	p.I2265I	TRANK1_ENST00000429976.2_Silent_p.I2815I|TRANK1_ENST00000428977.2_Silent_p.I2265I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2815					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						CACTTTGCTCGATGTCCTGCA	0.542000													72	163					0	0	0.003610	0	0
ATP8B1	5205	broad.mit.edu	37	18	55361813	55361813	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:55361813C>T	ENST00000536015.1	-	11	1149		c.e11+1		RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Splice_Site|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1						ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AAAATAAATACCGTGTAAACC	0.308000													7	4					0	0	0.003080	0	0
KPRP	448834	broad.mit.edu	37	1	152733109	152733109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:152733109C>T	ENST00000368773.1	+	2	1103	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	KPRP_ENST00000606109.1_Missense_Mutation_p.P349S	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	349	Pro-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)			TGAGATTCCTCCCATCAGACG	0.647000													12	28					0	0	0.001855	0	0
ALPK2	115701	broad.mit.edu	37	18	56196448	56196448	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:56196448G>A	ENST00000361673.3	-	6	5589	c.5376C>T	c.(5374-5376)atC>atT	p.I1792I		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1792	Ig-like 2.						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						TCTCAGCTTGGATCTTTTTCA	0.348000													29	29					0	0	0.002096	0	0
ATXN1	6310	broad.mit.edu	37	6	16328278	16328278	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:16328278G>A	ENST00000244769.4	-	8	1200	c.264C>T	c.(262-264)tcC>tcT	p.S88S	ATXN1_ENST00000436367.1_Silent_p.S88S	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	88					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGCTGGGCGGGGAGTAGTCCA	0.677000													34	53					0	0	0.003755	0	0
FSD2	123722	broad.mit.edu	37	15	83456038	83456038	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:83456038G>A	ENST00000334574.8	-	2	286	c.105C>T	c.(103-105)ctC>ctT	p.L35L	FSD2_ENST00000541889.1_Silent_p.L35L			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	35								p.L35L(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTTCTGGAAAGAGGTGCAGTC	0.502000													51	76					0	0	0.003610	0	0
BRINP2	57795	broad.mit.edu	37	1	177250269	177250269	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:177250269C>T	ENST00000361539.4	+	8	2269	c.1957C>T	c.(1957-1959)Ctg>Ttg	p.L653L	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		653						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AATCAAGTCCCTGGATGACAG	0.463000													25	83					0	0	0.003954	0	0
C12orf42	374470	broad.mit.edu	37	12	103795435	103795435	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:103795435G>A	ENST00000378113.2	-	3	322	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.P33S|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000315192.8_Missense_Mutation_p.P33S	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	33										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CTCACAATGGGAATATAGCAA	0.433000													9	34					0	0	0.000673	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586929	86586929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:86586929G>A	ENST00000376263.3	-	11	1044	c.821C>T	c.(820-822)cCt>cTt	p.P274L	HNRNPK_ENST00000376281.4_Missense_Mutation_p.P274L|HNRNPK_ENST00000351839.3_Missense_Mutation_p.P274L|HNRNPK_ENST00000376264.2_Missense_Mutation_p.P274L|HNRNPK_ENST00000360384.5_Missense_Mutation_p.P274L	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	274	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TCTAGATGGAGGCATGGGACG	0.597000													30	32					0	0	0.003271	0	0
SAMD3	154075	broad.mit.edu	37	6	130465718	130465718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:130465718G>A	ENST00000368134.2	-	14	2118	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S	SAMD3_ENST00000457563.2_Missense_Mutation_p.P528S|SAMD3_ENST00000439090.2_Missense_Mutation_p.P504S|SAMD3_ENST00000437477.2_Missense_Mutation_p.P504S	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	504										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTCAAAGAAGGAAAATAAGGA	0.388000													28	49					0	0	0.001271	0	0
CTNND2	1501	broad.mit.edu	37	5	11364892	11364892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:11364892G>A	ENST00000304623.8	-	8	1477	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*	CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q430*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q93*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q339*|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	430					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						GGGGGCTTCTGATAGACGCGG	0.617000													21	27					0	0	0.002780	0	0
CDHR2	54825	broad.mit.edu	37	5	176017435	176017435	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:176017435G>A	ENST00000510636.1	+	27	3637	c.3363G>A	c.(3361-3363)cgG>cgA	p.R1121R	CDHR2_ENST00000261944.5_Silent_p.R1121R|CDHR2_ENST00000506348.1_Silent_p.R1121R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1121					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGATGATCCGGAATGATCAGG	0.662000													20	32					0	0	0.001882	0	0
MAP2K5	5607	broad.mit.edu	37	15	67878236	67878236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:67878236C>T	ENST00000178640.5	+	5	958	c.331C>T	c.(331-333)Cct>Tct	p.P111S	MAP2K5_ENST00000354498.5_Missense_Mutation_p.P75S|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000395476.2_Missense_Mutation_p.P111S	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	111					nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						AGCCTGCAAGCCTCCTGGGGA	0.373000													12	59					0	0	0.001368	0	0
HADHA	3030	broad.mit.edu	37	2	26455137	26455137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:26455137G>A	ENST00000380649.3	-	6	593	c.464C>T	c.(463-465)tCa>tTa	p.S155L	HADHA_ENST00000461025.1_5'UTR|HADHA_ENST00000457468.2_Missense_Mutation_p.S68L	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	155					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GTATTGGCATGAAATGGCAAC	0.378000													21	22					0	0	0.001882	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786322	121786322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:121786322G>A	ENST00000261367.7	+	12	3349	c.1921G>A	c.(1921-1923)Ggg>Agg	p.G641R	SNCAIP_ENST00000542191.1_Missense_Mutation_p.G152R|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G228R|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G594R|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G534R|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G641R|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G196R|SNCAIP_ENST00000504884.2_3'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	594					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)		AGTCCAAGAGGGGATTCAGGT	0.478000													17	69					0	0	0.004990	0	0
TJAP1	93643	broad.mit.edu	37	6	43472807	43472807	+	Silent	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:43472807T>C	ENST00000372444.2	+	11	1291	c.858T>C	c.(856-858)acT>acC	p.T286T	TJAP1_ENST00000372449.1_Silent_p.T296T|TJAP1_ENST00000438588.2_Silent_p.T296T|TJAP1_ENST00000372445.5_Silent_p.T296T|TJAP1_ENST00000436109.2_Silent_p.T286T|TJAP1_ENST00000372452.1_Silent_p.T286T|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000259751.1_Silent_p.T286T	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	296	Pro-rich.					Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTCTGGGTACTGCCAGGGGCT	0.652000													18	19					0	0	0.000958	0	0
HPD	3242	broad.mit.edu	37	12	122284839	122284839	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:122284839C>T	ENST00000543163.1	-	12	1088	c.642_splice	c.e12-1	p.E215_splice	HPD_ENST00000543869.2_5'UTR|HPD_ENST00000289004.4_Splice_Site_p.E254_splice	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	254					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCCACATATTCCTGGGGGAGG	0.587000													15	18					0	0	0.002450	0	0
OR4K15	81127	broad.mit.edu	37	14	20444677	20444677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20444677C>T	ENST00000305051.5	+	1	1075	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	334					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAAGCCTAGTCAGGTTTCTGT	0.383000													5	6					0	0	0.001168	0	0
CLIC2	1193	broad.mit.edu	37	X	154528438	154528438	+	Silent	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:154528438A>G	ENST00000369449.2	-	2	296	c.78T>C	c.(76-78)agT>agC	p.S26S	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	26	N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGTTTCCAATACTCTCTCCAT	0.373000													40	14					0	0	0.001485	0	0
MAP3K11	4296	broad.mit.edu	37	11	65380868	65380868	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:65380868C>T	ENST00000309100.3	-	1	845	c.360G>A	c.(358-360)gaG>gaA	p.E120E		NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	120	Gly-rich.|Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGATCACCTCCTCCAGCCGCA	0.667000													12	37					0	0	0.001368	0	0
C12orf42	374470	broad.mit.edu	37	12	103872171	103872171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:103872171C>T	ENST00000378113.2	-	2	259	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.E12K|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000315192.8_Missense_Mutation_p.E12K	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	12										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AAGAATTCTTCTTCCCTTTGT	0.338000													8	8					0	0	0.000443	0	0
CDC37	11140	broad.mit.edu	37	19	10502334	10502334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:10502334G>A	ENST00000222005.2	-	8	1083	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	344					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TTAGAGTTGGGGACCCAGAGG	0.627000											OREG0025234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	47					0	0	0.002450	0	0
AKAP8	10270	broad.mit.edu	37	19	15483046	15483046	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:15483046C>A	ENST00000269701.2	-	6	1034	c.974G>T	c.(973-975)gGa>gTa	p.G325V		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	325					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GGAGAAATCTCCTTCACTGTC	0.592000													13	57					9.31168e-06	1.9355e-05	0.001855	1	0
GLRX3	10539	broad.mit.edu	37	10	131959078	131959078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:131959078C>T	ENST00000368644.1	+	4	317	c.295C>T	c.(295-297)Cga>Tga	p.R99*	GLRX3_ENST00000331244.5_Nonsense_Mutation_p.R99*	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	99	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GAAAATCGACCGATTAGATGG	0.378000													12	38					0	0	0.001368	0	0
KRBA1	84626	broad.mit.edu	37	7	149420913	149420913	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:149420913C>T	ENST00000255992.10	+	8	1260	c.861C>T	c.(859-861)ccC>ccT	p.P287P	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Silent_p.P287P|KRBA1_ENST00000485033.2_Silent_p.P287P	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	287										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACAGGCATCCCAGTCCCTCAG	0.612000													23	41					0	0	0.002780	0	0
DNER	92737	broad.mit.edu	37	2	230377581	230377581	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:230377581C>T	ENST00000341772.4	-	6	1199	c.1065G>A	c.(1063-1065)agG>agA	p.R355R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	355	EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGCAAGGTTTCCTCTGGCAAG	0.438000													29	32					0	0	0.002096	0	0
OR10R2	343406	broad.mit.edu	37	1	158449871	158449871	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158449871C>T	ENST00000368152.1	+	1	204	c.204C>T	c.(202-204)gtC>gtT	p.V68V	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTATCAGTGTCATCCACCTGG	0.428000													46	49					0	0	0.002852	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058033	152058033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:152058033C>T	ENST00000368806.1	-	3	2189	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	709							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCCTTTCTCTTCTTTGCTA	0.453000													21	77					0	0	0.002299	0	0
ALB	213	broad.mit.edu	37	4	74280794	74280794	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:74280794C>T	ENST00000295897.4	+	9	1190	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Silent_p.V175V|ALB_ENST00000503124.1_Silent_p.V217V|ALB_ENST00000509063.1_Silent_p.V367V|ALB_ENST00000401494.3_Silent_p.V252V	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	367	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)	ATTACTCTGTCGTGCTGCTGC	0.393000													28	28					0	0	0.005443	0	0
MYOCD	93649	broad.mit.edu	37	17	12639642	12639642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:12639642G>A	ENST00000425538.1	+	6	780	c.580G>A	c.(580-582)Ggg>Agg	p.G194R	MYOCD_ENST00000343344.4_Missense_Mutation_p.G194R|MYOCD_ENST00000395988.1_Missense_Mutation_p.G98R	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	194	HDAC5-binding (By similarity).				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)		AGGTTCTCTGGGGACAAACCA	0.458000													37	35					0	0	0.004289	0	0
GABRB1	2560	broad.mit.edu	37	4	47427775	47427775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:47427775G>A	ENST00000295454.3	+	9	1457	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	GABRB1_ENST00000538619.1_Missense_Mutation_p.D319N	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	389					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)	GAGCGTGAGCGACCCCAAGGC	0.627000													19	59					0	0	0.000958	0	0
EPHA3	2042	broad.mit.edu	37	3	89521633	89521633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:89521633G>A	ENST00000336596.2	+	16	2935	c.2710G>A	c.(2710-2712)Gac>Aac	p.D904N	EPHA3_ENST00000494014.1_Missense_Mutation_p.D904N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	904						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCTTCTTCTGGACCAAAGCAA	0.468000										TSP Lung(6;0.00050)			51	135					0	0	0.003610	0	0
PCBP3	54039	broad.mit.edu	37	21	47359972	47359972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:47359972G>A	ENST00000400314.1	+	15	1276	c.938G>A	c.(937-939)gGg>gAg	p.G313E	PCBP3_ENST00000400308.1_Missense_Mutation_p.G287E|PCBP3_ENST00000400309.1_Missense_Mutation_p.G312E|PCBP3_ENST00000400310.1_Missense_Mutation_p.G293E|PCBP3_ENST00000449640.1_Missense_Mutation_p.G313E|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Missense_Mutation_p.G303E			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	313	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		GGACGCCAAGGGACCAAAATC	0.537000													12	46					0	0	0.001855	0	0
FBLN5	10516	broad.mit.edu	37	14	92336628	92336628	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:92336628G>A	ENST00000267620.10	-	12	1579	c.1410C>T	c.(1408-1410)atC>atT	p.I470I	FBLN5_ENST00000556961.1_5'UTR|FBLN5_ENST00000556154.1_Silent_p.I434I|FBLN5_ENST00000342058.4_Silent_p.I429I			Q9UBX5	FBLN5_HUMAN	fibulin 5	429					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CTCTGAAGTTGATGACAGTGT	0.577000													63	87					0	0	0.003610	0	0
RBP3	5949	broad.mit.edu	37	10	48390435	48390435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:48390435C>T	ENST00000224600.4	-	1	556	c.443G>A	c.(442-444)gGg>gAg	p.G148E		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	148	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGGAACTCCCCCATCATGCT	0.652000													12	38					0	0	0.001855	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865196	140865196	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140865196C>T	ENST00000306593.1	+	1	456	c.456C>T	c.(454-456)ttC>ttT	p.F152F	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_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)			GACAGCGTTTCCCGTTGGAAA	0.537000													15	52					0	0	0.003163	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001296	52001296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:52001296G>A	ENST00000291707.3	-	5	1436	c.1381C>T	c.(1381-1383)Ctc>Ttc	p.L461F	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.L343F	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	461	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCAGGGAGAGGCTCAGGGAA	0.587000													16	21					0	0	0.000958	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829737	26829737	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:26829737C>T	ENST00000215906.5	+	2	594	c.156C>T	c.(154-156)tcC>tcT	p.S52S		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	52					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GCATCCAGTCCGTGCGGGACT	0.657000													27	59					0	0	0.004656	0	0
MYO15A	51168	broad.mit.edu	37	17	18023559	18023559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:18023559G>A	ENST00000205890.5	+	2	1783	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	482	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)					CTCTTCCCGCGACCCCAGGTG	0.632000													15	7					0	0	0.006122	0	0
RASGRP3	25780	broad.mit.edu	37	2	33759402	33759402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:33759402C>T	ENST00000403687.3	+	11	1836	c.1096C>T	c.(1096-1098)Ctc>Ttc	p.L366F	RASGRP3_ENST00000407811.1_Missense_Mutation_p.L366F|RASGRP3_ENST00000402538.3_Missense_Mutation_p.L366F	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	366	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTCCCTGGACCTCTATCACAC	0.333000													4	21					0	0	0.000248	0	0
SLC6A20	54716	broad.mit.edu	37	3	45807204	45807204	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:45807204G>A	ENST00000358525.4	-	8	1243	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	SLC6A20_ENST00000456124.2_Silent_p.I376I|SLC6A20_ENST00000353278.4_Silent_p.I339I|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	376					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTGTGTAGACGATGAATGCCA	0.532000													20	52					0	0	0.002780	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862023	128862023	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:128862023G>A	ENST00000274487.4	+	4	1087	c.942G>A	c.(940-942)ggG>ggA	p.G314G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	314					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)		GTGGAAGAGGGAAACGATATT	0.393000													13	17					0	0	0.001368	0	0
MMP15	4324	broad.mit.edu	37	16	58079018	58079018	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:58079018C>T	ENST00000219271.3	+	10	2463	c.1678C>T	c.(1678-1680)Cag>Tag	p.Q560*		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	560					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CATGGGCTGCCAGGAGCACGT	0.672000													5	6					0	0	0.000602	0	0
PDE11A	50940	broad.mit.edu	37	2	178494141	178494141	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:178494141C>T	ENST00000286063.5	-	20	3113	c.2796G>A	c.(2794-2796)agG>agA	p.R932R	PDE11A_ENST00000389683.3_Silent_p.R488R|PDE11A_ENST00000409504.1_Silent_p.R574R|PDE11A_ENST00000450799.2_Silent_p.R123R|PDE11A_ENST00000449286.2_Silent_p.R574R|PDE11A_ENST00000358450.4_Silent_p.R682R	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	932					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AGGTTTAGTTCCTGTCTTCCT	0.483000									Primary Pigmented Nodular Adrenocortical Disease, Familial				32	51					0	0	0.002096	0	0
TPCN2	219931	broad.mit.edu	37	11	68825141	68825141	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:68825141C>T	ENST00000294309.3	+	5	626	c.525C>T	c.(523-525)tcC>tcT	p.S175S	TPCN2_ENST00000542467.1_Silent_p.S175S|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	175					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGACCGTGTCCCTGAGTCTCG	0.607000													9	39					0	0	0.000673	0	0
NLRP13	126204	broad.mit.edu	37	19	56443522	56443522	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:56443522G>A	ENST00000588751.1	-	1	180	c.156C>T	c.(154-156)ttC>ttT	p.F52F	NLRP13_ENST00000342929.3_Silent_p.F52F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	52	DAPIN.						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)		GGATACGCGGGAAGTGCCCCT	0.547000													16	61					0	0	0.000958	0	0
ACTR3B	57180	broad.mit.edu	37	7	152551617	152551617	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:152551617C>T	ENST00000256001.8	+	12	1370	c.1236C>T	c.(1234-1236)ccC>ccT	p.P412P	ACTR3B_ENST00000377776.3_Silent_p.P342P|ACTR3B_ENST00000537264.1_Silent_p.P324P|ACTR3B_ENST00000397282.2_Silent_p.P324P	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	412					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GCCACAACCCCGTCTTTGGAG	0.562000													32	66					0	0	0.001485	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716536	39716536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:39716536G>A	ENST00000553728.1	+	4	971	c.758G>A	c.(757-759)aGt>aAt	p.S253N	MIA2_ENST00000556784.1_Missense_Mutation_p.S252N|MIA2_ENST00000280082.3_Missense_Mutation_p.S253N																							TCATTTCGGAGTAGAAAAATA	0.388000													6	39					0	0	0.001168	0	0
F2	2147	broad.mit.edu	37	11	46748337	46748337	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:46748337C>T	ENST00000311907.5	+	9	1136	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	F2_ENST00000530231.1_Silent_p.I360I	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	360					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	AATCCTACATCGACGGGCGCA	0.587000													20	78					0	0	0.001882	0	0
TMEM199	147007	broad.mit.edu	37	17	26685996	26685996	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:26685996T>C	ENST00000292114.3	+	2	359	c.269T>C	c.(268-270)gTt>gCt	p.V90A	CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000581386.1_3'UTR|TMEM199_ENST00000509083.1_Missense_Mutation_p.V90A|TMEM199_ENST00000395404.3_Intron	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	90						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CTCCCAGAGGTTGTGAAGCCT	0.413000													22	23					0	0	0.002780	0	0
TACR2	6865	broad.mit.edu	37	10	71164665	71164665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:71164665C>T	ENST00000373306.4	-	5	1657	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	TACR2_ENST00000373307.1_Missense_Mutation_p.E160K	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	372					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CGCCCCGCCTCCCCACTGGTA	0.567000													4	17					0	0	0.000602	0	0
VAT1L	57687	broad.mit.edu	37	16	77910297	77910297	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:77910297G>A	ENST00000302536.2	+	5	906	c.753G>A	c.(751-753)ttG>ttA	p.L251L	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	251							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						ACATCGTTTTGGATTGCCTCT	0.473000													40	87					0	0	0.003214	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132613	52132613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:52132613G>A	ENST00000222107.4	-	3	836	c.698C>T	c.(697-699)tCc>tTc	p.S233F	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S233F|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S233F|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S233F|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S233F			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	233					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CCACTCACAGGAGACATTGAG	0.577000													20	43					0	0	0.004656	0	0
TSIX	9383	broad.mit.edu	37	X	73045103	73045103	+	RNA	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:73045103C>A	ENST00000604411.1	+	0	33064				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCAGCAAACACAAATTGGCCT	0.299000													22	13					5.26018e-13	1.1011e-12	0.001882	1	0
OR5AN1	390195	broad.mit.edu	37	11	59131940	59131940	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:59131940G>A	ENST00000313940.2	+	1	56	c.9G>A	c.(7-9)ggG>ggA	p.G3G		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CAATGACTGGGGGAGGAAATA	0.398000													6	23					0	0	0.001168	0	0
ANLN	54443	broad.mit.edu	37	7	36455450	36455450	+	Silent	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:36455450C>A	ENST00000265748.2	+	8	1700	c.1479C>A	c.(1477-1479)acC>acA	p.T493T	ANLN_ENST00000495714.1_Intron|ANLN_ENST00000396068.2_Silent_p.T493T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	493	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAAAGGTGACCGAAAACCAGA	0.398000													6	142					0.00198382	0.0041037	0.001984	1	0
VSNL1	7447	broad.mit.edu	37	2	17773477	17773477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:17773477G>A	ENST00000406397.1	+	2	661	c.136G>A	c.(136-138)Gag>Aag	p.E46K	VSNL1_ENST00000404666.2_Missense_Mutation_p.E46K|VSNL1_ENST00000295156.4_Missense_Mutation_p.E46K			P62760	VISL1_HUMAN	visinin-like 1	46	EF-hand 1.						calcium ion binding	p.E46Q(1)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTAAATCTCGAGGAATTTCA	0.428000													17	26					0	0	0.001523	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222485	140222485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140222485G>A	ENST00000531613.1	+	1	1579	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E527K|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGAGGAGCTAGAGCT	0.672000													11	152					0	0	0.001855	0	0
ZNF888	388559	broad.mit.edu	37	19	53418540	53418540	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:53418540G>A	ENST00000596623.1	-	0	459									zinc finger protein 888																		CCTCCTGAGAGAATTCTATGG	0.438000													17	103					0	0	0.002445	0	0
LARP4B	23185	broad.mit.edu	37	10	930436	930436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:930436G>A	ENST00000316157.3	-	2	132	c.92C>T	c.(91-93)cCt>cTt	p.P31L		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	31							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TTGAGATATAGGACCATTCAT	0.328000													11	25					0	0	0.000978	0	0
PREX2	80243	broad.mit.edu	37	8	69020509	69020509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:69020509C>T	ENST00000288368.4	+	24	3158	c.2881C>T	c.(2881-2883)Cag>Tag	p.Q961*		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	961					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						ATTTGGTGTTCAGTTGGATAG	0.393000													8	14					0	0	0.004482	0	0
LAG3	3902	broad.mit.edu	37	12	6884007	6884007	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:6884007T>G	ENST00000203629.2	+	4	1091	c.758T>G	c.(757-759)aTc>aGc	p.I253S	LAG3_ENST00000441671.2_Missense_Mutation_p.I253S	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	253						integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AACGTCTCCATCATGTATAAC	0.557000													44	53					0	0	0.003610	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108565	90108565	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:90108565C>T	ENST00000390271.2	+	0	62																											GGCTTCTGCTCCTCTGGGTTC	0.398000													16	63					0	0	0.000958	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971187	21971187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:21971187G>A	ENST00000579755.1	-	2	506	c.214C>T	c.(214-216)Ccg>Tcg	p.P72S	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72S|CDKN2A_ENST00000498628.2_Silent_p.A6A|CDKN2A_ENST00000497750.1_Silent_p.A6A|CDKN2A_ENST00000579122.1_Silent_p.A57A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Silent_p.A57A|CDKN2A_ENST00000446177.1_Silent_p.A57A|CDKN2A_ENST00000498124.1_Silent_p.A57A|CDKN2A_ENST00000494262.1_Silent_p.A6A|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113S|CDKN2A_ENST00000578845.2_Silent_p.A6A|CDKN2A_ENST00000479692.2_Silent_p.A6A			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	48			C -> G (in an esophagus tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(45)|p.R58*(6)|p.M53_R58del(3)|p.M54fs*61(2)|p.R58fs*59(1)|p.R58fs*89(1)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.A57A(1)|p.P113L(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGCCACTCGGGCGCTGCCCA	0.682000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			33	18					0	0	0.002445	0	0
ABCA12	26154	broad.mit.edu	37	2	215866380	215866380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:215866380G>A	ENST00000272895.7	-	21	2984	c.2765C>T	c.(2764-2766)tCc>tTc	p.S922F	ABCA12_ENST00000389661.4_Missense_Mutation_p.S604F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	922					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)		TACACAAGAGGAAATATTTAC	0.368000													12	40					0	0	0.001368	0	0
CYP2A13	1553	broad.mit.edu	37	19	41601812	41601812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:41601812C>T	ENST00000330436.3	+	9	1451	c.1451C>T	c.(1450-1452)cCa>cTa	p.P484L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	484					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCCACGATCCCACGAAACTAC	0.632000													25	66					0	0	0.004656	0	0
SSPO	23145	broad.mit.edu	37	7	149482056	149482056	+	RNA	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:149482056T>C	ENST00000378016.2	+	0	2844							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)			ACTCCTGCCCTGCAGGCAGTA	0.617000													5	16					0	0	0.000602	0	0
FAM193A	8603	broad.mit.edu	37	4	2659588	2659588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:2659588G>A	ENST00000324666.5	+	6	848	c.497G>A	c.(496-498)aGa>aAa	p.R166K	FAM193A_ENST00000382839.3_Missense_Mutation_p.R166K|FAM193A_ENST00000502458.1_Missense_Mutation_p.R190K|FAM193A_ENST00000505311.1_Missense_Mutation_p.R166K|FAM193A_ENST00000545951.1_Missense_Mutation_p.R166K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	166										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTTAAACAAAGAAGATTCATT	0.358000													105	296					0	0	0.003610	0	0
ARID3C	138715	broad.mit.edu	37	9	34622505	34622505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:34622505G>A	ENST00000378909.2	-	5	979	c.887C>T	c.(886-888)cCt>cTt	p.P296L		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	296	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TGCCAGACAAGGGTTTGGAAT	0.572000													31	55					0	0	0.004878	0	0
PROM1	8842	broad.mit.edu	37	4	16040580	16040580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:16040580C>T	ENST00000505450.1	-	3	877	c.265G>A	c.(265-267)Gat>Aat	p.D89N	PROM1_ENST00000447510.2_Missense_Mutation_p.D89N|PROM1_ENST00000510224.1_Missense_Mutation_p.D89N|PROM1_ENST00000508167.1_Missense_Mutation_p.D89N|PROM1_ENST00000539194.1_Missense_Mutation_p.D89N|PROM1_ENST00000540805.1_Missense_Mutation_p.D89N|PROM1_ENST00000543373.1_Missense_Mutation_p.D89N	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	89					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TTGTCATAATCAATTTTGGAT	0.249000													6	22					0	0	0.003080	0	0
MGAM	8972	broad.mit.edu	37	7	141758027	141758027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:141758027C>T	ENST00000475668.2	+	31	3772	c.3718C>T	c.(3718-3720)Cct>Tct	p.P1240S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1240S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1240	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)	TGTGATGGTACCTTACTGGTC	0.443000													127	261					0	0	0.003610	0	0
TGFBR3	7049	broad.mit.edu	37	1	92185583	92185583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:92185583G>A	ENST00000212355.4	-	9	1745	c.1280C>T	c.(1279-1281)cCt>cTt	p.P427L	TGFBR3_ENST00000525962.1_Missense_Mutation_p.P427L|TGFBR3_ENST00000370399.2_Missense_Mutation_p.P426L	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	427					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.P427H(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GGGAATGACAGGGTCCTTTGG	0.522000													44	113					0	0	0.002852	0	0
FAM83C	128876	broad.mit.edu	37	20	33879631	33879631	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:33879631C>T	ENST00000374408.3	-	1	573	c.477G>A	c.(475-477)aaG>aaA	p.K159K		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	159										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCAGCAGGTCCTTGATGTTCT	0.607000													47	87					0	0	0.003610	0	0
KLC4	89953	broad.mit.edu	37	6	43040994	43040994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:43040994C>T	ENST00000394056.2	+	15	2158	c.1663C>T	c.(1663-1665)Ctt>Ttt	p.L555F	KLC4_ENST00000259708.3_Missense_Mutation_p.L573F|KLC4_ENST00000479388.1_Missense_Mutation_p.L555F|KLC4_ENST00000347162.5_Missense_Mutation_p.L555F|KLC4_ENST00000453940.2_Missense_Mutation_p.L478F|KLC4_ENST00000394058.1_Missense_Mutation_p.L555F			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	555						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GAGTGGCTCTCTTGGCAAGAT	0.557000													7	33					0	0	0.000443	0	0
TBC1D21	161514	broad.mit.edu	37	15	74173986	74173986	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:74173986G>A	ENST00000300504.2	+	3	253	c.168_splice	c.e3-1	p.G57_splice	TBC1D21_ENST00000535547.2_Splice_Site_p.G21_splice|TBC1D21_ENST00000562056.1_Splice_Site_p.G57_splice	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	57	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCACCCCAGGGTCTGCACCCC	0.612000													5	11					0	0	0.000602	0	0
ZNF664	144348	broad.mit.edu	37	12	124497191	124497191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:124497191G>A	ENST00000539644.1	+	6	2330	c.500G>A	c.(499-501)gGa>gAa	p.G167E	ZNF664_ENST00000337815.4_Missense_Mutation_p.G167E|ZNF664_ENST00000538932.2_Missense_Mutation_p.G167E|ZNF664_ENST00000392404.3_Missense_Mutation_p.G167E|RP11-522N14.1_ENST00000540762.1_RNA			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GTCCACACAGGAGAGAAACCC	0.512000													25	115					0	0	0.004656	0	0
DRD5	1816	broad.mit.edu	37	4	9784034	9784034	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:9784034C>T	ENST00000304374.2	+	1	777	c.381C>T	c.(379-381)tcC>tcT	p.S127S		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	127					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCACTGCCTCCATCCTGAACC	0.617000													7	38					0	0	0.004482	0	0
MRPL37	51253	broad.mit.edu	37	1	54666161	54666161	+	Missense_Mutation	SNP	A	A	G	rs142946413	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:54666161A>G	ENST00000605337.1	+	1	293	c.245A>G	c.(244-246)tAc>tGc	p.Y82C	MRPL37_ENST00000487096.1_Intron|MRPL37_ENST00000360840.5_Missense_Mutation_p.Y82C|MRPL37_ENST00000336230.6_Missense_Mutation_p.T52A			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	82					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GACCGCGGCTACAAGGACCCA	0.617000													12	44					0	0	0.001368	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69094497	69094497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:69094497C>T	ENST00000332644.5	-	9	1213	c.1052G>A	c.(1051-1053)tGt>tAt	p.C351Y		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	351	Peptidase S1.				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						AAATCCAGCACATAACATTGT	0.358000													17	18					0	0	0.004007	0	0
RFX6	222546	broad.mit.edu	37	6	117201716	117201716	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:117201716G>A	ENST00000332958.2	+	3	406	c.390G>A	c.(388-390)gaG>gaA	p.E130E		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	130					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GGCTTGAAGAGAATTACATTG	0.353000													4	33					0	0	0.000248	0	0
LILRB1	10859	broad.mit.edu	37	19	55146159	55146159	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:55146159C>T	ENST00000396331.1	+	11	1785	c.1428C>T	c.(1426-1428)ctC>ctT	p.L476L	LILRB1_ENST00000396317.1_Silent_p.L460L|LILRB1_ENST00000396315.1_Silent_p.L477L|LILRB1_ENST00000418536.2_Silent_p.L460L|LILRB1_ENST00000324602.7_Silent_p.L477L|LILRB1_ENST00000396332.4_Silent_p.L476L|LILRB1_ENST00000434867.2_Silent_p.L476L|LILRB1_ENST00000448689.1_Silent_p.L476L|LILRB1_ENST00000427581.2_Silent_p.L526L|LILRB1_ENST00000396321.2_Silent_p.L476L|LILRB1_ENST00000396327.3_Silent_p.L477L|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	476					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		tcctcctcctcctcctcctct	0.607000										HNSCC(37;0.09)			25	23					0	0	0.002780	0	0
TNFSF15	9966	broad.mit.edu	37	9	117553092	117553092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:117553092C>T	ENST00000374045.4	-	4	509	c.396G>A	c.(394-396)atG>atA	p.M132I	TNFSF15_ENST00000374044.1_Missense_Mutation_p.M55I	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	132					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGGTATAGTTCATTCGGTTCT	0.478000													21	23					0	0	0.001882	0	0
OR51F2	119694	broad.mit.edu	37	11	4843091	4843091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4843091G>A	ENST00000322110.5	+	1	541	c.476G>A	c.(475-477)gGg>gAg	p.G159E	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCAAGATTGGGATGAGCATG	0.463000													16	78					0	0	0.006122	0	0
MXD1	4084	broad.mit.edu	37	2	70143266	70143266	+	Silent	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:70143266T>A	ENST00000264444.2	+	2	347	c.87T>A	c.(85-87)ggT>ggA	p.G29G	MXD1_ENST00000540449.1_Silent_p.G29G	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	29					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CTGAACATGGTTATGCCTCCA	0.373000													9	16					0	0	0.000443	0	0
OR14C36	127066	broad.mit.edu	37	1	248512232	248512232	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:248512232C>T	ENST00000317861.1	+	1	156	c.156C>T	c.(154-156)agC>agT	p.S52S		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GTGACAGCAGCCTTCACATGC	0.443000													21	80					0	0	0.001882	0	0
LTBP1	4052	broad.mit.edu	37	2	33572504	33572504	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:33572504C>T	ENST00000404816.2	+	26	4280	c.3927C>T	c.(3925-3927)ttC>ttT	p.F1309F	LTBP1_ENST00000402934.1_Silent_p.F930F|LTBP1_ENST00000418533.2_Silent_p.F941F|LTBP1_ENST00000404525.1_Silent_p.F930F|LTBP1_ENST00000354476.3_Silent_p.F1310F|LTBP1_ENST00000272273.5_Silent_p.F207F|LTBP1_ENST00000390003.4_Silent_p.F984F|LTBP1_ENST00000407925.1_Silent_p.F983F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1309	EGF-like 14; 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)				AAGGGTCCTTCCTGTGCGTGT	0.542000													34	63					0	0	0.005524	0	0
HCRTR2	3062	broad.mit.edu	37	6	55120098	55120098	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:55120098C>T	ENST00000370862.3	+	3	903	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	189					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)			CTCAGGCCATCGTCATGGAGT	0.502000													9	23					0	0	0.004482	0	0
ZNF558	148156	broad.mit.edu	37	19	8922239	8922239	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:8922239C>T	ENST00000601372.1	-	10	1638	c.927G>A	c.(925-927)caG>caA	p.Q309Q	ZNF558_ENST00000301475.1_Silent_p.Q309Q|ZNF558_ENST00000444186.2_Silent_p.Q238Q			Q96NG5	ZN558_HUMAN	zinc finger protein 558	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TTCTTACGTGCTGTGTCAGAT	0.438000													14	50					0	0	0.001855	0	0
UGT2B7	7364	broad.mit.edu	37	4	69972921	69972921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:69972921C>T	ENST00000305231.7	+	4	1077	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.P344L	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	344					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGAATAAACCAGATACCTTA	0.348000													23	20					0	0	0.003330	0	0
DENND3	22898	broad.mit.edu	37	8	142154307	142154307	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:142154307C>T	ENST00000519811.1	+	5	754	c.684C>T	c.(682-684)ttC>ttT	p.F228F	DENND3_ENST00000424248.1_Silent_p.F148F|DENND3_ENST00000262585.2_Silent_p.F148F			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	148	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TAAAAGATTTCGCTGCGAAGC	0.368000													25	37					0	0	0.001061	0	0
ATP5F1	515	broad.mit.edu	37	1	112002251	112002251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:112002251C>T	ENST00000369722.3	+	6	1292	c.686C>T	c.(685-687)aCa>aTa	p.T229I	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Missense_Mutation_p.T168I	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	229					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCATCTCCACACAGCAGGTA	0.428000													9	15					0	0	0.000673	0	0
EIF4G3	8672	broad.mit.edu	37	1	21186888	21186888	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:21186888C>T	ENST00000602326.1	-	22	3667	c.3084G>A	c.(3082-3084)aaG>aaA	p.K1028K	EIF4G3_ENST00000374935.3_Silent_p.K742K|EIF4G3_ENST00000536266.1_Silent_p.K626K|EIF4G3_ENST00000374937.3_Silent_p.K1028K|EIF4G3_ENST00000400422.1_Silent_p.K1022K|EIF4G3_ENST00000264211.8_Silent_p.K1022K|EIF4G3_ENST00000537738.1_Silent_p.K512K	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1022					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTGGTCTTCTCTTCTCTTTGG	0.398000													69	65					0	0	0.003610	0	0
SLC25A16	8034	broad.mit.edu	37	10	70248341	70248341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:70248341G>A	ENST00000265870.2	-	7	754	c.656C>T	c.(655-657)tCc>tTc	p.S219F	SLC25A16_ENST00000493963.1_5'UTR|SLC25A16_ENST00000539557.1_Missense_Mutation_p.S121F	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	219					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						AGGAGCATGGGAAAGCCCAAC	0.378000													14	35					0	0	0.004007	0	0
ROR2	4920	broad.mit.edu	37	9	94486827	94486827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:94486827C>T	ENST00000375708.3	-	9	2147	c.1949G>A	c.(1948-1950)gGg>gAg	p.G650E	ROR2_ENST00000375715.1_Missense_Mutation_p.G510E|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	650	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGCGAGTTCCCCAGCAGCTT	0.572000													17	21					0	0	0.000958	0	0
TMEM163	81615	broad.mit.edu	37	2	135470807	135470807	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:135470807G>A	ENST00000281924.6	-	2	349	c.285C>T	c.(283-285)tcC>tcT	p.S95S		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	95						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		TGACAATGATGGAGAACCAGG	0.517000													28	51					0	0	0.001786	0	0
TXNRD2	10587	broad.mit.edu	37	22	19865663	19865663	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:19865663G>A	ENST00000535882.1	-	16	1391	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	TXNRD2_ENST00000542719.1_Silent_p.F435F|TXNRD2_ENST00000400521.1_Silent_p.F465F|TXNRD2_ENST00000400519.1_Silent_p.F464F|TXNRD2_ENST00000400518.1_Silent_p.F435F|TXNRD2_ENST00000400525.1_Silent_p.F442F			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	465					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TGGGGCCAAGGAAATGCAGGC	0.612000													8	30					0	0	0.000673	0	0
RANBP2	5903	broad.mit.edu	37	2	109382703	109382703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:109382703C>T	ENST00000283195.6	+	20	5834	c.5708C>T	c.(5707-5709)tCg>tTg	p.S1903L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1903					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						TTTGGCATTTCGGAACCAGGA	0.408000													76	81					0	0	0.003610	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77528847	77528847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:77528847G>A	ENST00000477717.1	+	5	1202	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	323					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CTGGAAACCAGAATCACTTGC	0.433000													15	18					0	0	0.000958	0	0
PKP2	5318	broad.mit.edu	37	12	33031073	33031073	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:33031073C>T	ENST00000340811.4	-	3	849	c.741G>A	c.(739-741)ggG>ggA	p.G247G	PKP2_ENST00000070846.6_Silent_p.G247G	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	247					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGCGGCTGGTCCCTGGCCTGG	0.622000													14	31					0	0	0.001855	0	0
COL2A1	1280	broad.mit.edu	37	12	48372520	48372520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:48372520G>A	ENST00000380518.3	-	42	2919	c.2755C>T	c.(2755-2757)Ccc>Tcc	p.P919S	COL2A1_ENST00000337299.6_Missense_Mutation_p.P850S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	919	Triple-helical region.				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)	GGACCAGGGGGACCAGGGGGT	0.617000													10	32					0	0	0.000978	0	0
FLG	2312	broad.mit.edu	37	1	152286781	152286781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:152286781C>T	ENST00000368799.1	-	3	616	c.581G>A	c.(580-582)gGa>gAa	p.G194E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	194					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G194A(1)		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)			CCTATTGTCTCCTAATCTAGT	0.318000									Ichthyosis				36	77					0	0	0.003755	0	0
SETD3	84193	broad.mit.edu	37	14	99871664	99871664	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:99871664G>A	ENST00000331768.5	-	10	1128	c.969C>T	c.(967-969)atC>atT	p.I323I		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	323					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AACCACTGTGGATCACAAACT	0.398000													29	37					0	0	0.002096	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83820057	83820057	+	Silent	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:83820057T>C	ENST00000299633.4	-	5	1119	c.516A>G	c.(514-516)aaA>aaG	p.K172K		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		172					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TTTCCTCTTCTTTGCAGTCTT	0.408000													27	59					0	0	0.001061	0	0
ZNF559	84527	broad.mit.edu	37	19	9453434	9453434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9453434C>T	ENST00000393883.2	+	6	1955	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L	ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.P356L|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.P436L|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.P500L|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602738.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GCAGAAAGGCCTTTTGAATGT	0.418000													18	35					0	0	0.000958	0	0
STMN4	81551	broad.mit.edu	37	8	27097515	27097515	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:27097515G>A	ENST00000350889.4	-	6	677	c.564C>T	c.(562-564)gcC>gcT	p.A188A	STMN4_ENST00000523048.1_Silent_p.A188A|STMN4_ENST00000519997.1_Silent_p.A152A|STMN4_ENST00000519614.1_Silent_p.A161A|STMN4_ENST00000265770.7_Silent_p.A161A|STMN4_ENST00000522908.1_Silent_p.A188A	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	161					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CCAACATGGCGGCGAGGTGGG	0.527000													19	52					0	0	0.001882	0	0
PELP1	27043	broad.mit.edu	37	17	4576309	4576309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:4576309G>A	ENST00000269230.7	-	19	1934	c.1709C>T	c.(1708-1710)cCt>cTt	p.P570L	PELP1_ENST00000572293.1_Silent_p.P709P|PELP1_ENST00000436683.2_Silent_p.P512P|PELP1_ENST00000574876.1_Silent_p.P659P|PELP1_ENST00000301396.4_Silent_p.P803P			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	633					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGGCCCTGAAGGGCGATGGGG	0.706000													17	21					0	0	0.006122	0	0
CUX1	1523	broad.mit.edu	37	7	101840438	101840438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:101840438C>T	ENST00000360264.3	+	15	1800	c.1780C>T	c.(1780-1782)Caa>Taa	p.Q594*	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_Nonsense_Mutation_p.Q583*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.Q481*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.Q481*|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Nonsense_Mutation_p.Q583*|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.Q583*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	583					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						GGGACTGTCTCAAGGGTCCGT	0.507000													36	92					0	0	0.004878	0	0
OBSCN	84033	broad.mit.edu	37	1	228491542	228491542	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:228491542G>A	ENST00000570156.2	+	52	13979	c.13905G>A	c.(13903-13905)agG>agA	p.R4635R	OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Silent_p.R1325R|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3678	Ig-like 47.				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)				ACGGGACGAGGTGTGAGCTGC	0.602000													5	84					0	0	0.001168	0	0
CASS4	57091	broad.mit.edu	37	20	55027872	55027872	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:55027872T>C	ENST00000371336.3	+	5	1841	c.1640T>C	c.(1639-1641)cTt>cCt	p.L547P	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.L547P	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	547					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGGAAGTTCTTGTGACTGAC	0.493000													33	55					0	0	0.004878	0	0
ZNF578	147660	broad.mit.edu	37	19	53014273	53014273	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:53014273C>T	ENST00000421239.2	+	6	883	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATAATTTTTTCCATTCATCAT	0.358000													32	61					0	0	0.001786	0	0
TTN	7273	broad.mit.edu	37	2	179602934	179602934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179602934C>T	ENST00000589042.1	-	49	14470	c.14246G>A	c.(14245-14247)cGa>cAa	p.R4749Q	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R4432Q|TTN_ENST00000460472.2_Missense_Mutation_p.R4386Q|TTN_ENST00000359218.5_Missense_Mutation_p.R4511Q|TTN_ENST00000342992.6_Missense_Mutation_p.R3505Q|TTN_ENST00000342175.6_Missense_Mutation_p.R4578Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4432	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R4386Q(1)|p.R3505Q(1)|p.R4511Q(1)|p.R4578Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGAAGATCGAATAGAACA	0.463000													7	13					0	0	0.003080	0	0
POLQ	10721	broad.mit.edu	37	3	121215716	121215716	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:121215716C>T	ENST00000264233.5	-	14	2345	c.2217G>A	c.(2215-2217)caG>caA	p.Q739Q		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	739					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATCCATATTTCTGATTTATTT	0.368000								DNA polymerases (catalytic subunits)					34	64					0	0	0.002836	0	0
MYT1L	23040	broad.mit.edu	37	2	1926121	1926121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:1926121G>A	ENST00000399161.2	-	10	2167	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	MYT1L_ENST00000428368.2_Missense_Mutation_p.P474S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	474					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCTCCCCGGGAAGTTGTCTC	0.473000													41	43					0	0	0.002222	0	0
JAGN1	84522	broad.mit.edu	37	3	9934917	9934917	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:9934917C>T	ENST00000307768.4	+	2	577	c.408C>T	c.(406-408)taC>taT	p.Y136Y		NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1 (Drosophila)	136						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					GCAAGGCCTACCGTTTCCTCT	0.522000													39	68					0	0	0.002852	0	0
SPIC	121599	broad.mit.edu	37	12	101876613	101876613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:101876613C>T	ENST00000551346.1	+	5	413	c.254C>T	c.(253-255)tCt>tTt	p.S85F	SPIC_ENST00000299272.5_Missense_Mutation_p.S85F			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	85						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ATTCATCAATCTCTGCAGAAC	0.403000													79	114					0	0	0.003610	0	0
SEC31B	25956	broad.mit.edu	37	10	102250017	102250017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:102250017G>A	ENST00000370345.3	-	21	2810	c.2713C>T	c.(2713-2715)Cct>Tct	p.P905S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	905	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CATGTCCCAGGGAATCCCACC	0.542000													5	25					0	0	0.000602	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927235	53927235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:53927235G>A	ENST00000371445.3	+	2	722	c.667G>A	c.(667-669)Ggc>Agc	p.G223S	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	223	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GTTCCCGCTGGGCTACCTGGA	0.667000													24	41					0	0	0.002780	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130938999	130938999	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:130938999G>A	ENST00000509018.1	-	3	367	c.162C>T	c.(160-162)cgC>cgT	p.R54R	RAPGEF6_ENST00000510071.1_Silent_p.R54R|RAPGEF6_ENST00000307984.5_Silent_p.R54R|RAPGEF6_ENST00000507093.1_Silent_p.R54R|RAPGEF6_ENST00000296859.6_Silent_p.R54R|FNIP1_ENST00000514667.1_Silent_p.R104R|RAPGEF6_ENST00000308008.6_Silent_p.R54R	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	54					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATCTCTCATAGCGTGCTCTTG	0.254000													7	125					0	0	0.004482	0	0
SPIB	6689	broad.mit.edu	37	19	50926083	50926083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:50926083C>T	ENST00000595883.1	+	4	153	c.128C>T	c.(127-129)tCc>tTc	p.S43F	SPIB_ENST00000596074.1_Intron|SPIB_ENST00000270632.7_Missense_Mutation_p.S43F|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000597855.1_Missense_Mutation_p.S43F	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	43	TAD2.				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCCCCAGACTCCCTGTGGGAC	0.647000													12	44					0	0	0.002450	0	0
CBY1	25776	broad.mit.edu	37	22	39064088	39064088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:39064088C>T	ENST00000216029.3	+	2	163	c.29C>T	c.(28-30)cCg>cTg	p.P10L	RP3-508I15.9_ENST00000422408.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.10_ENST00000423346.1_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	10					cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					ACGTTCAGTCCGAAGAAGACA	0.537000													12	36					0	0	0.001855	0	0
HLA-V	352962	broad.mit.edu	37	6	29760053	29760053	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:29760053G>A	ENST00000457107.1	+	0	54																											CTGCTCTCGGGGGCCCTGGTC	0.692000													4	17					0	0	0.001984	0	0
KRT18	3875	broad.mit.edu	37	12	53344144	53344144	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:53344144C>T	ENST00000550600.1	+	3	504	c.450C>T	c.(448-450)atC>atT	p.I150I	KRT18_ENST00000388835.3_Silent_p.I150I|KRT18_ENST00000388837.2_Silent_p.I150I			P05783	K1C18_HUMAN	keratin 18	150	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ATGCCCGCATCGTTCTGCAGA	0.512000													190	272					0	0	0.003610	0	0
HOXC10	3226	broad.mit.edu	37	12	54379302	54379302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:54379302C>T	ENST00000303460.4	+	1	333	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	87					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						AGCCGCCTATCGCCTGGAACA	0.632000													18	58					0	0	0.001882	0	0
EXPH5	23086	broad.mit.edu	37	11	108409798	108409798	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:108409798C>T	ENST00000265843.4	-	3	506	c.396G>A	c.(394-396)agG>agA	p.R132R	EXPH5_ENST00000428840.1_Silent_p.R56R|EXPH5_ENST00000525344.1_Silent_p.R125R	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	132					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCCAGATTTCCTGAATGAGA	0.423000													36	46					0	0	0.001485	0	0
BBS7	55212	broad.mit.edu	37	4	122774202	122774202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:122774202C>T	ENST00000264499.4	-	8	941	c.758G>A	c.(757-759)gGg>gAg	p.G253E	BBS7_ENST00000506636.1_Missense_Mutation_p.G253E	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	253					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			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						ATCTTTAACCCCATCACCCAC	0.343000									Bardet-Biedl syndrome				18	18					0	0	0.004990	0	0
MACF1	23499	broad.mit.edu	37	1	39913438	39913438	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:39913438C>T	ENST00000564288.1	+	82	20613	c.19836C>T	c.(19834-19836)ttC>ttT	p.F6612F	MACF1_ENST00000289893.4_Silent_p.F5055F|MACF1_ENST00000317713.7_Silent_p.F4553F|MACF1_ENST00000361689.2_Silent_p.F4553F|MACF1_ENST00000567887.1_Silent_p.F6649F|MACF1_ENST00000372915.3_Silent_p.F6511F|MACF1_ENST00000539005.1_Silent_p.F4423F|MACF1_ENST00000545844.1_Silent_p.F4553F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6620					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATTAAAGTTCCTTAGCCAAA	0.423000													33	64					0	0	0.003755	0	0
BTBD7	55727	broad.mit.edu	37	14	93708971	93708971	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:93708971T>C	ENST00000334746.5	-	11	3354	c.3047A>G	c.(3046-3048)cAt>cGt	p.H1016R	BTBD7_ENST00000554565.1_Missense_Mutation_p.H665R|BTBD7_ENST00000393170.2_Missense_Mutation_p.H590R	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1016										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TCTGTGTAGATGCCCGTCAGG	0.502000													34	113					0	0	0.005524	0	0
CREBBP	1387	broad.mit.edu	37	16	3778043	3778043	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:3778043G>A	ENST00000262367.5	-	31	7814	c.7005C>T	c.(7003-7005)atC>atT	p.I2335I	CREBBP_ENST00000382070.3_Silent_p.I2297I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2335					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGACGTGGCGATCTGCTGGC	0.647000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						39	82					0	0	0.005524	0	0
OSBPL7	114881	broad.mit.edu	37	17	45888181	45888181	+	Silent	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:45888181G>T	ENST00000007414.3	-	17	1949	c.1758C>A	c.(1756-1758)atC>atA	p.I586I	OSBPL7_ENST00000392507.3_Silent_p.I586I	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	586					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GGCAGGCCGAGATAGGGGGGT	0.602000													5	8					0.00116845	0.00241915	0.001168	1	0
MSRA	4482	broad.mit.edu	37	8	10159066	10159066	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:10159066C>T	ENST00000528246.1	+	5	779	c.156C>T	c.(154-156)gtC>gtT	p.V52V	MSRA_ENST00000317173.4_Silent_p.V118V|MSRA_ENST00000441698.2_Silent_p.V78V|MSRA_ENST00000382490.5_Silent_p.V75V|MSRA_ENST00000518255.1_Silent_p.V118V	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	118					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	ATGCAGAAGTCGTCCGAGTGG	0.428000													25	57					0	0	0.001271	0	0
MXRA5	25878	broad.mit.edu	37	X	3242170	3242170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:3242170G>A	ENST00000217939.6	-	5	1710	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	519	Ig-like C2-type 1.					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)				TTTCAGGATGGAGCCATCTGG	0.537000													14	15					0	0	0.003163	0	0
OR4K17	390436	broad.mit.edu	37	14	20585706	20585706	+	Silent	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20585706A>T	ENST00000315543.4	+	1	141	c.141A>T	c.(139-141)ggA>ggT	p.G47G		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTTGCTGGGACTGACCAGCT	0.423000													22	109					0	0	0.003330	0	0
YLPM1	56252	broad.mit.edu	37	14	75248527	75248527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:75248527C>T	ENST00000325680.7	+	4	1905	c.1781C>T	c.(1780-1782)cCt>cTt	p.P594L	YLPM1_ENST00000552421.1_Missense_Mutation_p.P594L|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTCCCCCCACCTTCCCTGTCT	0.592000													25	38					0	0	0.001271	0	0
ZNF624	57547	broad.mit.edu	37	17	16525964	16525964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:16525964G>A	ENST00000311331.7	-	6	2327	c.2236C>T	c.(2236-2238)Cat>Tat	p.H746Y		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	746					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)		TCTCCACTATGGATTTTCTGA	0.418000													57	53					0	0	0.003610	0	0
ATP2B2	491	broad.mit.edu	37	3	10430058	10430058	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:10430058C>T	ENST00000397077.1	-	8	1385	c.810G>A	c.(808-810)cgG>cgA	p.R270R	ATP2B2_ENST00000352432.4_Silent_p.R270R|ATP2B2_ENST00000360273.2_Silent_p.R270R|ATP2B2_ENST00000383800.4_Silent_p.R270R|ATP2B2_ENST00000343816.4_Silent_p.R270R			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	270					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCACCAACATCCGTCCTGAGC	0.507000													38	89					0	0	0.001951	0	0
CASR	846	broad.mit.edu	37	3	122002631	122002631	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:122002631G>A	ENST00000498619.1	+	7	2298	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E	CASR_ENST00000490131.1_Silent_p.E610E|CASR_ENST00000296154.5_Silent_p.E610E	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	610					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)	CGTGGACGGAGCCCTTTGGGA	0.532000													21	47					0	0	0.001523	0	0
MUC17	140453	broad.mit.edu	37	7	100693850	100693850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:100693850G>A	ENST00000306151.4	+	7	12872	c.12808G>A	c.(12808-12810)Gaa>Aaa	p.E4270K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4270	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E4270K(1)		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)					CAATGCCACCGAAGTAGTGAA	0.463000													30	45					0	0	0.001271	0	0
ZNF317	57693	broad.mit.edu	37	19	9271287	9271287	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9271287C>T	ENST00000247956.6	+	7	1271	c.966C>T	c.(964-966)atC>atT	p.I322I	ZNF317_ENST00000360385.3_Silent_p.I290I	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I322I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCCACCTCATCGCACACAAGA	0.587000													7	59					0	0	0.004482	0	0
KLK8	11202	broad.mit.edu	37	19	51503258	51503258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:51503258G>A	ENST00000600767.1	-	5	976	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	KLK8_ENST00000347619.4_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000291726.7_Missense_Mutation_p.P163S|KLK8_ENST00000391806.2_Missense_Mutation_p.P208S|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000593490.1_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	163	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CTACCTCGGGGACTGGTGACA	0.612000													7	23					0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179640917	179640917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179640917C>T	ENST00000589042.1	-	28	5898	c.5674G>A	c.(5674-5676)Gat>Aat	p.D1892N	TTN_ENST00000591111.1_Missense_Mutation_p.D1892N|TTN_ENST00000360870.5_Missense_Mutation_p.D1892N|TTN_ENST00000460472.2_Missense_Mutation_p.D1846N|TTN_ENST00000359218.5_Missense_Mutation_p.D1846N|TTN_ENST00000342992.6_Missense_Mutation_p.D1892N|TTN_ENST00000342175.6_Missense_Mutation_p.D1846N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1607	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATACCATCATAGCGAACT	0.483000													34	57					0	0	0.004878	0	0
MDN1	23195	broad.mit.edu	37	6	90387356	90387356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:90387356G>A	ENST00000369393.3	-	76	12587	c.12472C>T	c.(12472-12474)Cat>Tat	p.H4158Y	MDN1_ENST00000428876.1_Missense_Mutation_p.H4158Y			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4158					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)		GGGTGAAGATGAAGCATCTCT	0.428000													20	57					0	0	0.001216	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166434	180166434	+	Missense_Mutation	SNP	G	G	A	rs141289205		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:180166434G>A	ENST00000307832.2	-	1	665	c.625C>T	c.(625-627)Cct>Tct	p.P209S		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|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)			AGTGCTGCAGGAACAGCCACG	0.522000													12	100					0	0	0.001368	0	0
MED12L	116931	broad.mit.edu	37	3	150908543	150908543	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:150908543A>G	ENST00000474524.1	+	13	1831	c.1793A>G	c.(1792-1794)aAc>aGc	p.N598S	MED12L_ENST00000309237.4_Missense_Mutation_p.N598S|MED12L_ENST00000422248.2_Missense_Mutation_p.N598S|MED12L_ENST00000273432.4_Missense_Mutation_p.N458S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	598					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAATTTGTGAACCTGGTGCTG	0.438000													16	33					0	0	0.001216	0	0
ZNF407	55628	broad.mit.edu	37	18	72589239	72589239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:72589239C>T	ENST00000299687.5	+	4	4964	c.4964C>T	c.(4963-4965)cCg>cTg	p.P1655L	ZNF407_ENST00000584235.1_3'UTR|ZNF407_ENST00000577538.1_Missense_Mutation_p.P1655L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGAGAAAAGCCGTTTAAATGT	0.507000													28	35					0	0	0.005443	0	0
USP29	57663	broad.mit.edu	37	19	57641808	57641808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:57641808G>A	ENST00000254181.4	+	4	2219	c.1765G>A	c.(1765-1767)Gat>Aat	p.D589N	USP29_ENST00000598197.1_Missense_Mutation_p.D589N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	589					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAATCCAGTGATTCCCTGGT	0.483000													27	41					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179473426	179473426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179473426C>T	ENST00000589042.1	-	274	52536	c.52312G>A	c.(52312-52314)Gga>Aga	p.G17438R	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G15797R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8373R|TTN_ENST00000359218.5_Missense_Mutation_p.G8498R|TTN_ENST00000342992.6_Missense_Mutation_p.G14870R|TTN_ENST00000342175.6_Missense_Mutation_p.G8565R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15797	Fibronectin type-III 26.						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)			TACTCTTTTCCTTCAATCAGT	0.398000													5	4					0	0	0.000602	0	0
PCLO	27445	broad.mit.edu	37	7	82583985	82583985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:82583985G>A	ENST00000423517.2	-	5	6621	c.6284C>T	c.(6283-6285)aCc>aTc	p.T2095I	PCLO_ENST00000333891.8_Missense_Mutation_p.T2095I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2026					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						AAAGTCCATGGTGGACTCTGT	0.488000													10	32					0	0	0.001368	0	0
C12orf42	374470	broad.mit.edu	37	12	103699882	103699882	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:103699882C>T	ENST00000548048.1	-	8	796	c.300G>A	c.(298-300)ttG>ttA	p.L100L	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Silent_p.L167L|C12orf42_ENST00000378113.2_Silent_p.L167L|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	167										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CCAGTTGTTCCAAAAATGAAC	0.493000													11	28					0	0	0.000673	0	0
OR2B11	127623	broad.mit.edu	37	1	247614961	247614961	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:247614961G>A	ENST00000318749.6	-	1	347	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCAGCCAGTGGAAGACTGCAT	0.592000													41	32					0	0	0.002852	0	0
CTNNA2	1496	broad.mit.edu	37	2	80835431	80835431	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:80835431C>T	ENST00000466387.1	+	21	3142	c.2418C>T	c.(2416-2418)ctC>ctT	p.L806L	CTNNA2_ENST00000343114.3_Silent_p.L485L|CTNNA2_ENST00000496558.1_Silent_p.L806L|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Silent_p.L806L|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000361291.4_Silent_p.L840L|CTNNA2_ENST00000541047.1_Silent_p.L806L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	806					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAGGAGAGCTCATTGTGTCAG	0.458000													6	7					0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9046526	9046526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9046526G>A	ENST00000397910.4	-	5	35308	c.35105C>T	c.(35104-35106)tCc>tTc	p.S11702F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11704	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						GGTTGTTCTGGAAACAGGTGT	0.507000													18	67					0	0	0.001216	0	0
SOHLH2	54937	broad.mit.edu	37	13	36765966	36765966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:36765966G>A	ENST00000379881.3	-	5	584	c.496C>T	c.(496-498)Cac>Tac	p.H166Y	SOHLH2_ENST00000554962.1_Missense_Mutation_p.H243Y|SOHLH2_ENST00000317764.6_Missense_Mutation_p.H166Y|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.H243Y	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TATCCCAGGTGTTCGCTGTAG	0.378000													37	41					0	0	0.002522	0	0
ZNF253	56242	broad.mit.edu	37	19	20002699	20002699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:20002699C>T	ENST00000589717.1	+	4	735	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F	ZNF253_ENST00000355650.4_Missense_Mutation_p.L139F	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	215					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTGCAAACCTTACTACACA	0.388000													12	27					0	0	0.000978	0	0
OR51S1	119692	broad.mit.edu	37	11	4869916	4869916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:4869916G>A	ENST00000322101.2	-	1	598	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCAGTAGGGCATGTAGGCC	0.542000													27	98					0	0	0.001786	0	0
ADCY7	113	broad.mit.edu	37	16	50347965	50347965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:50347965G>A	ENST00000394697.2	+	23	3188	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	ADCY7_ENST00000254235.3_Missense_Mutation_p.E950K			P51828	ADCY7_HUMAN	adenylate cyclase 7	950	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CTCAGGGCACGAGAACCAGGT	0.552000													12	26					0	0	0.001368	0	0
KIF19	124602	broad.mit.edu	37	17	72338033	72338033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:72338033C>T	ENST00000389916.4	+	3	277	c.139C>T	c.(139-141)Cca>Tca	p.P47S		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	47	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCTCATGGACCCAATGGAGGA	0.617000													36	81					0	0	0.004289	0	0
AXL	558	broad.mit.edu	37	19	41745213	41745213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:41745213C>T	ENST00000301178.4	+	9	1469	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	AXL_ENST00000593513.1_Missense_Mutation_p.R159C|AXL_ENST00000359092.3_Missense_Mutation_p.R427C	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	427	Fibronectin type-III 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						GGAGGCCTGGCGCCCAGGTAA	0.592000													13	48					0	0	0.001855	0	0
CD300E	342510	broad.mit.edu	37	17	72619781	72619781	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:72619781C>A	ENST00000392619.1	-	1	96	c.61G>T	c.(61-63)Gga>Tga	p.G21*	CD300E_ENST00000426295.2_Nonsense_Mutation_p.G35*|CD300E_ENST00000328630.3_5'UTR	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	0	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCTTGGCTTCCGTCCTCAGCA	0.527000													5	110					0.00116845	0.00241915	0.001168	1	0
RP11-909M7.3	0	broad.mit.edu	37	14	101434481	101434481	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:101434481C>T	ENST00000554693.2	+	0	135				SNORD114-11_ENST00000363738.1_RNA																							GTGTGTGAGTCATGCACAGTG	0.413000													7	8					0	0	0.000443	0	0
CDK11A	728642	broad.mit.edu	37	1	1635549	1635549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:1635549G>A	ENST00000356200.3	-	15	1855	c.1621C>T	c.(1621-1623)Cct>Tct	p.P541S	CDK11A_ENST00000358779.5_Missense_Mutation_p.P565S|CDK11A_ENST00000378633.1_Missense_Mutation_p.P578S|CDK11A_ENST00000357760.2_Missense_Mutation_p.P574S|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000495016.1_Intron|CDK11A_ENST00000404249.3_Missense_Mutation_p.P575S|CDK11A_ENST00000378638.2_Missense_Mutation_p.P541S					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCCTTCAGAGGGGATCCGTAC	0.682000													8	7					0	0	0.003080	0	0
STAT4	6775	broad.mit.edu	37	2	191905794	191905794	+	Silent	SNP	C	C	T	rs66818798		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:191905794C>T	ENST00000392320.2	-	15	1646	c.1332G>A	c.(1330-1332)ttG>ttA	p.L444L	STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Silent_p.L444L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	444					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L444F(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CACCTACCTCCAAATCTATGG	0.383000													37	72					0	0	0.001287	0	0
BZRAP1	9256	broad.mit.edu	37	17	56404061	56404061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:56404061C>T	ENST00000355701.3	-	2	1294	c.424G>A	c.(424-426)Gag>Aag	p.E142K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E142K|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E142K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	142						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTTTTCCTCCTTAAGGATG	0.617000													23	58					0	0	0.005443	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229300	8229300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:8229300G>A	ENST00000539824.1	+	12	2025	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	SH3TC1_ENST00000245105.3_Missense_Mutation_p.A627T			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	627							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGTGCCCAAAGCCATGGCCCT	0.662000													20	49					0	0	0.000958	0	0
CAMK2G	818	broad.mit.edu	37	10	75607824	75607824	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:75607824G>A	ENST00000423381.1	-	9	741	c.618C>T	c.(616-618)atC>atT	p.I206I	CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Silent_p.I206I|CAMK2G_ENST00000372765.1_Silent_p.I206I|CAMK2G_ENST00000351293.3_Silent_p.I206I|CAMK2G_ENST00000322635.3_Silent_p.I206I|CAMK2G_ENST00000322680.3_Silent_p.I206I|CAMK2G_ENST00000305762.7_Silent_p.I206I	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	206	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CCACCAGGAGGATATACAGGA	0.547000													24	84					0	0	0.003330	0	0
CASC5	57082	broad.mit.edu	37	15	40942525	40942525	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:40942525A>T	ENST00000346991.5	+	19	6589	c.6199A>T	c.(6199-6201)Aaa>Taa	p.K2067*	CASC5_ENST00000399668.2_Nonsense_Mutation_p.K2041*			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2067	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GGATGAAGAGAAAAACAATCC	0.333000													46	128					0	0	0.003610	0	0
ZNF66	7617	broad.mit.edu	37	19	20959256	20959256	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:20959256G>A	ENST00000360204.5	+	0	147				ZNF66_ENST00000344519.8_Splice_Site_p.M1_splice|ZNF66_ENST00000594534.1_Splice_Site_p.M1_splice																							GCCTAGAAATGGTGAGAGTGC	0.592000													8	42					0	0	0.000443	0	0
PDE11A	50940	broad.mit.edu	37	2	178592807	178592807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:178592807G>A	ENST00000286063.5	-	11	2199	c.1882C>T	c.(1882-1884)Ctc>Ttc	p.L628F	PDE11A_ENST00000389683.3_Missense_Mutation_p.L184F|PDE11A_ENST00000409504.1_Missense_Mutation_p.L270F|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.L270F|PDE11A_ENST00000358450.4_Missense_Mutation_p.L378F	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	628					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AACATCCGGAGAGCAGCTGTG	0.463000									Primary Pigmented Nodular Adrenocortical Disease, Familial				7	5					0	0	0.001984	0	0
SAMD7	344658	broad.mit.edu	37	3	169644830	169644830	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:169644830G>A	ENST00000428432.2	+	6	1169	c.780G>A	c.(778-780)agG>agA	p.R260R	SAMD7_ENST00000335556.3_Silent_p.R260R	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	260										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CCACCCATAGGAAACCCTGGG	0.522000													20	56					0	0	0.002780	0	0
CUX1	1523	broad.mit.edu	37	7	101840399	101840399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:101840399G>A	ENST00000360264.3	+	15	1761	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.G570R|CUX1_ENST00000546411.2_Missense_Mutation_p.G468R|CUX1_ENST00000556210.1_Missense_Mutation_p.G468R|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.G570R|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.G570R	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	570					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						GCACAATATCGGACAACGTAT	0.542000													46	108					0	0	0.003610	0	0
SENP5	205564	broad.mit.edu	37	3	196613461	196613461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:196613461C>T	ENST00000323460.5	+	2	1658	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.P470L	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	470					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-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;0.004)		CTGGAGGCTCCCTTGGTGTGC	0.478000													31	35					0	0	0.001786	0	0
RP11-87F15.2	0	broad.mit.edu	37	4	177241089	177241089	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:177241089G>A	ENST00000512634.1	-	0	314																											CGGAGGACCGGAAAGGAGGCG	0.791000													5	3					0	0	0.001984	0	0
STARD8	9754	broad.mit.edu	37	X	67937434	67937434	+	Silent	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:67937434A>G	ENST00000252336.6	+	5	810	c.438A>G	c.(436-438)caA>caG	p.Q146Q	STARD8_ENST00000374599.3_Silent_p.Q226Q|STARD8_ENST00000374597.3_Silent_p.Q146Q	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	146					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GCAGCCAGCAAGCAGAGCCCA	0.552000													19	8					0	0	0.006122	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476474	42476474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:42476474C>T	ENST00000434000.1	-	9	3019	c.2737G>A	c.(2737-2739)Gac>Aac	p.D913N	GPATCH8_ENST00000591680.1_Missense_Mutation_p.D991N			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	991	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CGGCTGCGGTCCCGGCTATAG	0.647000													15	9					0	0	0.002450	0	0
ETS2	2114	broad.mit.edu	37	21	40191655	40191655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:40191655C>T	ENST00000360214.3	+	9	1500	c.1040C>T	c.(1039-1041)cCa>cTa	p.P347L	ETS2_ENST00000360938.3_Missense_Mutation_p.P347L	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	347					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CAAGGCAAACCAGTTATACCT	0.552000													6	12					0	0	0.001168	0	0
AMHR2	269	broad.mit.edu	37	12	53819593	53819593	+	Missense_Mutation	SNP	G	G	A	rs146554515		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:53819593G>A	ENST00000257863.4	+	6	822	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	AMHR2_ENST00000379791.3_Missense_Mutation_p.E248K|AMHR2_ENST00000550311.1_Missense_Mutation_p.E248K	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	248	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.E248K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AGCATTGTACGAACTTCCAGG	0.597000													9	39					0	0	0.004482	0	0
ALB	213	broad.mit.edu	37	4	74282062	74282062	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:74282062C>T	ENST00000295897.4	+	10	1370	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Silent_p.F235F|ALB_ENST00000503124.1_Silent_p.F277F|ALB_ENST00000509063.1_Silent_p.F427F|ALB_ENST00000401494.3_Silent_p.F312F	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	427	Albumin 3.				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)	AGTACAAATTCCAGAATGCGT	0.299000													11	9					0	0	0.001368	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350734	89350734	+	Missense_Mutation	SNP	G	G	A	rs146294483		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:89350734G>A	ENST00000301030.4	-	9	2676	c.2216C>T	c.(2215-2217)tCg>tTg	p.S739L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S739L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	739	Lys-rich.					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)		TGCTTTATTCGAACGGTCTTT	0.388000													35	67					0	0	0.003755	0	0
ZNF99	7652	broad.mit.edu	37	19	22941440	22941440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:22941440G>A	ENST00000397104.3	-	5	997	c.998C>T	c.(997-999)cCc>cTc	p.P333L	ZNF99_ENST00000596209.1_Missense_Mutation_p.P424L					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTTGCAGGGTTTCTCTGC	0.373000													13	30					0	0	0.001855	0	0
CD1D	912	broad.mit.edu	37	1	158152832	158152832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158152832G>A	ENST00000368171.3	+	5	1271	c.772G>A	c.(772-774)Gac>Aac	p.D258N		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	258	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCCCAATGCTGACGAGACATG	0.602000													21	73					0	0	0.002299	0	0
NEB	4703	broad.mit.edu	37	2	152388399	152388399	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:152388399C>T	ENST00000397345.3	-	144	21631	c.21429G>A	c.(21427-21429)agG>agA	p.R7143R	NEB_ENST00000604864.1_Silent_p.R7143R|NEB_ENST00000172853.10_Silent_p.R5442R|NEB_ENST00000603639.1_Silent_p.R7143R|NEB_ENST00000409198.1_Silent_p.R5442R|NEB_ENST00000427231.2_Silent_p.R7143R	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5442					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)		CATAGTTTTTCCTGTATTTGA	0.373000													4	20					0	0	0.000248	0	0
EPAS1	2034	broad.mit.edu	37	2	46611732	46611732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:46611732C>T	ENST00000263734.3	+	16	3056	c.2546C>T	c.(2545-2547)cCc>cTc	p.P849L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	849	CTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTGAACGTGCCCGTGCTGGGA	0.632000													13	39					0	0	0.001855	0	0
TNR	7143	broad.mit.edu	37	1	175323626	175323626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:175323626G>A	ENST00000367674.1	-	18	3991	c.3283C>T	c.(3283-3285)Cga>Tga	p.R1095*	TNR_ENST00000263525.2_Nonsense_Mutation_p.R1095*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1095	Fibronectin type-III 9.				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)					CCCTCCAGTCGAATCCAGGTG	0.552000													50	48					0	0	0.003610	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475968	140475968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:140475968C>T	ENST00000194155.4	+	1	1742	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		532	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGAGTTCCGCGTGGGCGC	0.692000													25	44					0	0	0.003330	0	0
SCN11A	11280	broad.mit.edu	37	3	38988316	38988316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:38988316G>A	ENST00000302328.3	-	2	548	c.350C>T	c.(349-351)tCa>tTa	p.S117L	SCN11A_ENST00000444237.2_Missense_Mutation_p.S117L|SCN11A_ENST00000450244.1_Missense_Mutation_p.S117L|SCN11A_ENST00000456224.3_Missense_Mutation_p.S117L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	117					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACTTCTGATTGAATTGAAAGG	0.403000													37	78					0	0	0.004878	0	0
DEFB110	245913	broad.mit.edu	37	6	49989596	49989596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:49989596G>A	ENST00000371148.2	-	1	98	c.53C>T	c.(52-54)cCa>cTa	p.P18L	DEFB110_ENST00000393660.2_Missense_Mutation_p.P18L	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	18					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					CATATTACCTGGTAAAATTGT	0.303000													6	21					0	0	0.001168	0	0
DSC1	1823	broad.mit.edu	37	18	28710629	28710629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:28710629C>T	ENST00000257198.5	-	16	2794	c.2533G>A	c.(2533-2535)Gac>Aac	p.D845N	DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	845					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CAAACGTAGTCTTCACAATGT	0.393000													12	17					0	0	0.001368	0	0
SLC23A2	9962	broad.mit.edu	37	20	4839988	4839988	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:4839988G>T	ENST00000379333.1	-	16	2059	c.1667C>A	c.(1666-1668)aCt>aAt	p.T556N	SLC23A2_ENST00000424750.2_Missense_Mutation_p.T442N|SLC23A2_ENST00000338244.1_Missense_Mutation_p.T556N	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	556					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAACATAGCAGTTGTGAGAAG	0.428000													83	125					1.14069e-49	2.40801e-49	0.003610	1	0
DNAH5	1767	broad.mit.edu	37	5	13900349	13900349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:13900349C>T	ENST00000265104.4	-	15	2329	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	742	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)					GTATCTATCTCGTTTCTGGAA	0.388000									Kartagener syndrome				15	29					0	0	0.004007	0	0
GPR98	84059	broad.mit.edu	37	5	90015894	90015894	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:90015894G>A	ENST00000405460.2	+	44	9573	c.9477G>A	c.(9475-9477)acG>acA	p.T3159T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3159	Calx-beta 22.				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)		TATTAGACACGGAACCAGAAA	0.363000													20	135					0	0	0.005443	0	0
SGSM1	129049	broad.mit.edu	37	22	25289463	25289463	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:25289463C>T	ENST00000400358.4	+	17	1893	c.1836C>T	c.(1834-1836)atC>atT	p.I612I	SGSM1_ENST00000400359.4_Silent_p.I667I	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	667						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCGAGGCGATCGTGCGGCAGA	0.642000													23	26					0	0	0.003954	0	0
SLC5A12	159963	broad.mit.edu	37	11	26708086	26708086	+	Silent	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:26708086A>G	ENST00000396005.3	-	10	1468	c.1159T>C	c.(1159-1161)Tta>Cta	p.L387L		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	387					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ACGCCAAATAAGAGACCTGAA	0.453000													8	16					0	0	0.003080	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514565	113514565	+	Missense_Mutation	SNP	G	G	A	rs76184593	by1000genomes	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:113514565G>A	ENST00000302450.6	-	4	461	c.383C>T	c.(382-384)tCg>tTg	p.S128L	CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000541405.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	128						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGTTGTGGACGATCCAGCTTC	0.413000													68	86					0	0	0.003610	0	0
SELPLG	6404	broad.mit.edu	37	12	109017754	109017754	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:109017754C>T	ENST00000388962.3	-	2	489	c.330G>A	c.(328-330)ggG>ggA	p.G110G	SELPLG_ENST00000228463.6_Silent_p.G126G|SELPLG_ENST00000550948.1_Silent_p.G110G	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	110					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGGACAGGTTCCCCATGTTGG	0.607000													10	56					0	0	0.000673	0	0
TSPAN16	26526	broad.mit.edu	37	19	11411966	11411966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:11411966G>A	ENST00000316737.1	+	4	582	c.432G>A	c.(430-432)tgG>tgA	p.W144*	TSPAN16_ENST00000592955.1_Nonsense_Mutation_p.W119*|TSPAN16_ENST00000590327.1_Nonsense_Mutation_p.W144*|CTC-510F12.4_ENST00000586356.1_RNA	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	144						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						CTACACAGTGGAACTTGGTCA	0.473000													26	36					0	0	0.001271	0	0
C1orf110	339512	broad.mit.edu	37	1	162824779	162824779	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:162824779T>C	ENST00000367910.1	-	4	805	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E	C1orf110_ENST00000367912.1_Intron|C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	229										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TCCATGTGTTTTGGGGGAATT	0.473000													45	30					0	0	0.002222	0	0
SVEP1	79987	broad.mit.edu	37	9	113173840	113173840	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:113173840A>C	ENST00000401783.2	-	37	6487	c.6151T>G	c.(6151-6153)Tac>Gac	p.Y2051D	SVEP1_ENST00000374469.1_Missense_Mutation_p.Y2028D|SVEP1_ENST00000297826.5_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2051	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTAGGCTGTAACCATCAGAG	0.537000													10	13					0	0	0.000443	0	0
USP46	64854	broad.mit.edu	37	4	53468187	53468187	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:53468187G>A	ENST00000441222.2	-	7	940	c.756C>T	c.(754-756)gcC>gcT	p.A252A	USP46_ENST00000508499.1_Silent_p.A245A|USP46_ENST00000451218.2_Silent_p.A225A	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	252					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TTAGGTGCAGGGCCAAGATCA	0.473000													38	71					0	0	0.001706	0	0
KRTAP6-3	337968	broad.mit.edu	37	21	31964965	31964965	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:31964965C>T	ENST00000391624.1	+	1	207	c.180C>T	c.(178-180)tcC>tcT	p.S60S		NM_181605.3	NP_853636.3			keratin associated protein 6-3											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						gctatggctccttctgtggct	0.612000													6	12					0	0	0.001984	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7660993	7660993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:7660993C>T	ENST00000299492.4	+	15	1655	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P280S|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P311S|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P265S	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	423					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCACAAATATCCCACTTTACC	0.537000													79	114					0	0	0.003610	0	0
PROX1	5629	broad.mit.edu	37	1	214170240	214170240	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:214170240C>T	ENST00000366958.4	+	2	970	c.362C>T	c.(361-363)tCc>tTc	p.S121F	PROX1_ENST00000498508.2_Missense_Mutation_p.S121F|PROX1_ENST00000261454.4_Missense_Mutation_p.S121F|PROX1_ENST00000435016.1_Missense_Mutation_p.S121F	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	121					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGTACAGGCTCCGAAGTACAT	0.488000													106	82					0	0	0.003610	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567069	173567069	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:173567069A>C	ENST00000367714.3	-	4	753	c.331T>G	c.(331-333)Tat>Gat	p.Y111D	SLC9C2_ENST00000536496.1_Missense_Mutation_p.Y9D|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	111					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTGAGTGTATAAAATTCTACA	0.318000													5	190					0	0	0.000602	0	0
ZNF595	152687	broad.mit.edu	37	4	60001	60001	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:60001G>A	ENST00000509152.2	+	3	366	c.181G>A	c.(181-183)Gag>Aag	p.E61K	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.E61K					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)		GCAAATAAAAGAGCCCTGCAA	0.448000													5	134					0	0	0.000602	0	0
SCN10A	6336	broad.mit.edu	37	3	38743371	38743371	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:38743371C>T	ENST00000449082.2	-	26	4615	c.4616G>A	c.(4615-4617)tGg>tAg	p.W1539*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1539					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)	AAACACATTCCAGCCATTTGT	0.498000													13	28					0	0	0.001855	0	0
EIF2B3	8891	broad.mit.edu	37	1	45392316	45392316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:45392316C>T	ENST00000360403.2	-	5	676	c.550G>A	c.(550-552)Gga>Aga	p.G184R	EIF2B3_ENST00000372183.3_Missense_Mutation_p.G184R|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	184					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGATGGATCCCTTAATGACC	0.458000													45	78					0	0	0.002852	0	0
CES1	1066	broad.mit.edu	37	16	55855416	55855416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:55855416C>T	ENST00000422046.2	-	5	835	c.554G>A	c.(553-555)aGc>aAc	p.S185N	CES1_ENST00000360526.3_Missense_Mutation_p.S186N|CES1_ENST00000361503.4_Missense_Mutation_p.S185N|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	185					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)	GTTCCCCCGGCTGTGTTCATC	0.597000													10	19					0	0	0.001368	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190579	72190579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:72190579C>T	ENST00000555818.1	+	16	4835	c.4487C>T	c.(4486-4488)tCc>tTc	p.S1496F	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S950F|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1475F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1475F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1496					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.S1496F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCATAAACTCCGTGGGATTT	0.478000													20	75					0	0	0.001216	0	0
OR6N1	128372	broad.mit.edu	37	1	158735659	158735659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158735659G>A	ENST00000335094.2	-	1	833	c.814C>T	c.(814-816)Cag>Tag	p.Q272*		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCCAGGGCCTGGTCATAGTCC	0.537000													27	143					0	0	0.005443	0	0
ICOS	29851	broad.mit.edu	37	2	204820508	204820508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:204820508G>A	ENST00000316386.6	+	2	275	c.208G>A	c.(208-210)Gga>Aga	p.G70R	ICOS_ENST00000435193.1_Missense_Mutation_p.G70R	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	70	Ig-like V-type.				immune response|T cell costimulation	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						TAAGACAAAAGGAAGTGGAAA	0.383000													15	27					0	0	0.004990	0	0
TRPC3	7222	broad.mit.edu	37	4	122833196	122833196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:122833196G>A	ENST00000264811.5	-	4	1593	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	TRPC3_ENST00000379645.3_Missense_Mutation_p.S465F|TRPC3_ENST00000513531.1_Missense_Mutation_p.S337F	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	380					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						GATGATGAAAGAAGCTGCATG	0.448000													6	7					0	0	0.001168	0	0
GTDC1	79712	broad.mit.edu	37	2	144764978	144764978	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:144764978T>G	ENST00000409214.1	-	7	924	c.646A>C	c.(646-648)Aag>Cag	p.K216Q	GTDC1_ENST00000542155.1_Missense_Mutation_p.K216Q|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000344850.4_Missense_Mutation_p.K216Q|GTDC1_ENST00000392867.3_Missense_Mutation_p.K216Q|GTDC1_ENST00000241391.5_Missense_Mutation_p.K216Q|GTDC1_ENST00000392869.1_Missense_Mutation_p.K216Q|GTDC1_ENST00000463875.2_Missense_Mutation_p.K87Q	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	216					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TTAAAATTCTTCAATAAATCC	0.418000													5	20					0	0	0.001168	0	0
WDR62	284403	broad.mit.edu	37	19	36557283	36557283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:36557283C>T	ENST00000401500.2	+	5	550	c.515C>T	c.(514-516)tCc>tTc	p.S172F	WDR62_ENST00000270301.7_Missense_Mutation_p.S172F|WDR62_ENST00000388999.3_Missense_Mutation_p.S172F|WDR62_ENST00000378860.4_3'UTR	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	172					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)			CACATCGTGTCCATGGGCTAC	0.562000													5	14					0	0	0.000602	0	0
GCOM1	145781	broad.mit.edu	37	15	57925814	57925814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:57925814G>A	ENST00000574161.1	+	8	927	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	GCOM1_ENST00000380568.3_Missense_Mutation_p.E270K|GCOM1_ENST00000587652.1_Missense_Mutation_p.E270K|MYZAP_ENST00000267853.5_Missense_Mutation_p.E270K|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000380565.4_Missense_Mutation_p.E270K|GCOM1_ENST00000572390.1_Missense_Mutation_p.E270K|GCOM1_ENST00000380561.2_Missense_Mutation_p.E239K|GCOM1_ENST00000380569.2_Missense_Mutation_p.E270K|GCOM1_ENST00000380560.2_Missense_Mutation_p.E201K|GCOM1_ENST00000396180.1_Missense_Mutation_p.E239K	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		270					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TTTGCAGGAAGAAACCAATAG	0.473000													16	66					0	0	0.000958	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975907	76975907	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:76975907G>A	ENST00000409911.1	-	3	1913	c.1690C>T	c.(1690-1692)Ctg>Ttg	p.L564L	LRRTM4_ENST00000409093.1_Silent_p.L563L|LRRTM4_ENST00000409884.1_Silent_p.L563L	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	563						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCCAGCTCCAGGCCGGGGCTT	0.597000													18	106					0	0	0.001523	0	0
SOGA2	23255	broad.mit.edu	37	18	8825784	8825784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:8825784C>T	ENST00000359865.3	+	15	4418	c.4276C>T	c.(4276-4278)Cgc>Tgc	p.R1426C	SOGA2_ENST00000400050.3_Missense_Mutation_p.R1385C|SOGA2_ENST00000306329.11_Missense_Mutation_p.R1745C|SOGA2_ENST00000306285.7_Missense_Mutation_p.R751C|SOGA2_ENST00000517570.1_Missense_Mutation_p.R1385C|SOGA2_ENST00000518815.1_Missense_Mutation_p.R751C	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1736																	AGCCTGGGCCCGCTCCACCAC	0.607000													14	20					0	0	0.004007	0	0
UBR1	197131	broad.mit.edu	37	15	43347094	43347094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:43347094G>A	ENST00000290650.4	-	12	1363	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	UBR1_ENST00000382177.2_Nonsense_Mutation_p.R429*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	429					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATAAGATGTCGAGCCTGCGGA	0.328000													22	41					0	0	0.002299	0	0
PCDH7	5099	broad.mit.edu	37	4	30724721	30724721	+	Silent	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:30724721G>T	ENST00000361762.2	+	1	2685	c.1677G>T	c.(1675-1677)gcG>gcT	p.A559A	PCDH7_ENST00000543491.1_Silent_p.A559A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	559	Cadherin 5.				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						CGGTGCTGGCGACAGACGCAG	0.607000													22	15					6.33239e-15	1.32848e-14	0.001523	1	0
TMEM127	55654	broad.mit.edu	37	2	96919815	96919815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:96919815C>T	ENST00000258439.2	-	4	704	c.448G>A	c.(448-450)Gct>Act	p.A150T	TMEM127_ENST00000435268.1_Missense_Mutation_p.A66T|TMEM127_ENST00000432959.1_Missense_Mutation_p.A150T	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	150					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						AGTTCAGAAGCCCAATAAGAA	0.527000													6	91					0	0	0.001168	0	0
CD86	942	broad.mit.edu	37	3	121828124	121828124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:121828124C>T	ENST00000330540.2	+	5	832	c.716C>T	c.(715-717)cCt>cTt	p.P239L	CD86_ENST00000469710.1_Missense_Mutation_p.P157L|CD86_ENST00000493101.1_Missense_Mutation_p.P127L|CD86_ENST00000393627.2_Missense_Mutation_p.P233L|CD86_ENST00000264468.5_Missense_Mutation_p.P26L	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	239					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CTTGAGGACCCTCAGCCTCCC	0.418000													17	44					0	0	0.001523	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518229	84518229	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:84518229G>A	ENST00000331369.5	+	0	423																											GATTGGCAACGAGTGGAGAAG	0.483000													26	33					0	0	0.003330	0	0
OR2T11	127077	broad.mit.edu	37	1	248789505	248789505	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:248789505G>A	ENST00000330803.2	-	1	986	c.925C>T	c.(925-927)Cag>Tag	p.Q309*		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	309			Q -> R (in dbSNP:rs1892442).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			GCTACTTTCTGAGCAGATGAG	0.463000													20	74					0	0	0.002299	0	0
MYO5C	55930	broad.mit.edu	37	15	52539151	52539151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:52539151G>A	ENST00000261839.7	-	16	2103	c.1942C>T	c.(1942-1944)Cga>Tga	p.R648*	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	648	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTGATGCATCGAACGTAGTGG	0.468000													33	77					0	0	0.001706	0	0
CACNA1E	777	broad.mit.edu	37	1	181689432	181689432	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:181689432C>T	ENST00000526775.1	+	14	2007	c.1842C>T	c.(1840-1842)atC>atT	p.I614I	CACNA1E_ENST00000367570.1_Silent_p.I614I|CACNA1E_ENST00000367567.4_Silent_p.I221I|CACNA1E_ENST00000357570.5_Silent_p.I565I|CACNA1E_ENST00000360108.3_Silent_p.I614I|CACNA1E_ENST00000358338.5_Silent_p.I565I|CACNA1E_ENST00000367573.2_Silent_p.I614I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	614					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						TCCTCTTCATCGTTGTCTTTG	0.468000													7	44					0	0	0.001984	0	0
SPIC	121599	broad.mit.edu	37	12	101880291	101880291	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:101880291C>T	ENST00000551346.1	+	6	648	c.489C>T	c.(487-489)acC>acT	p.T163T	SPIC_ENST00000299272.5_Silent_p.T163T			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	163						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACAGGAAGACCATGACTTACC	0.433000													7	48					0	0	0.003080	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476475	42476475	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:42476475C>T	ENST00000434000.1	-	9	3018	c.2736G>A	c.(2734-2736)cgG>cgA	p.R912R	GPATCH8_ENST00000591680.1_Silent_p.R990R			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	990	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGCTGCGGTCCCGGCTATAGC	0.652000													15	8					0	0	0.002450	0	0
CATSPERB	79820	broad.mit.edu	37	14	92055994	92055994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:92055994G>A	ENST00000256343.3	-	24	2996	c.2840C>T	c.(2839-2841)cCa>cTa	p.P947L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	947					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)				TTGTGTAATTGGAAACTTAAA	0.363000													8	15					0	0	0.004482	0	0
ODF3L2	284451	broad.mit.edu	37	19	467741	467741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:467741G>A	ENST00000315489.4	-	3	492	c.257C>T	c.(256-258)cCg>cTg	p.P86L	ODF3L2_ENST00000382696.3_Missense_Mutation_p.P50L	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	86										large_intestine(1)|lung(2)	3						GATGGGGCCCGGGCTGGTGTC	0.647000													13	63					0	0	0.001855	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602012	58602012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:58602012G>A	ENST00000287275.1	-	6	1165	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	GLYATL2_ENST00000532258.1_Missense_Mutation_p.H259Y	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	259						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)	TCTGCCACATGGAAATAAAAT	0.403000													16	55					0	0	0.004007	0	0
BDKRB1	623	broad.mit.edu	37	14	96731048	96731048	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:96731048G>A	ENST00000216629.6	+	3	1635	c.1029G>A	c.(1027-1029)agG>agA	p.R343R	BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	343					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CATCCCATAGGAAAGAAATCT	0.383000													80	102					0	0	0.003610	0	0
DNAH8	1769	broad.mit.edu	37	6	38905789	38905789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:38905789G>A	ENST00000359357.3	+	76	11206	c.10952G>A	c.(10951-10953)cGa>cAa	p.R3651Q	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3615Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.R3868Q					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						GGTGTACTTCGAACTACCAAG	0.473000													30	58					0	0	0.001786	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762728	130762728	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:130762728C>T	ENST00000392429.1	+	2	3539	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	TMEM200A_ENST00000545622.1_Silent_p.S387S|TMEM200A_ENST00000296978.3_Silent_p.S387S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	387						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCAATACATCCTTGCATTTGC	0.527000													17	23					0	0	0.000958	0	0
ACTN3	89	broad.mit.edu	37	11	66325598	66325598	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:66325598C>T	ENST00000513398.1	+	0	1326				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CAGCACCTGGCTGAGAAGTTC	0.642000													6	31					0	0	0.001984	0	0
BFSP1	631	broad.mit.edu	37	20	17475601	17475601	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:17475601C>T	ENST00000377873.3	-	8	1155	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	BFSP1_ENST00000377868.2_Silent_p.R247R|BFSP1_ENST00000536626.1_Silent_p.R233R|BFSP1_ENST00000544874.1_Silent_p.R233R	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	372	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						TCTCTTTTCTCCTTGGAACAT	0.418000													70	131					0	0	0.003610	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99998722	99998722	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:99998722A>G	ENST00000398027.2	-	18	2109	c.1862T>C	c.(1861-1863)gTt>gCt	p.V621A	ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.V450A|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.V450A	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	621							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)					CTCTCTCCCAACATCTTCCAT	0.627000													14	30					0	0	0.003163	0	0
CYYR1	116159	broad.mit.edu	37	21	27945215	27945215	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:27945215C>T	ENST00000299340.4	-	1	388	c.45G>A	c.(43-45)ccG>ccA	p.P15P	CYYR1_ENST00000435845.2_Silent_p.P123P|CYYR1_ENST00000400043.3_Silent_p.P15P	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	15						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GGACCAACTTCGGAAGCAAGA	0.662000													15	44					0	0	0.004990	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475391	52475391	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:52475391C>T	ENST00000231721.2	-	7	701	c.702G>A	c.(700-702)gaG>gaA	p.E234E		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	234	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GGTCAGAGTTCTCAGGGATCC	0.627000													17	30					0	0	0.001523	0	0
CSMD2	114784	broad.mit.edu	37	1	34123639	34123639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:34123639C>T	ENST00000373381.4	-	27	4530	c.4354G>A	c.(4354-4356)Gac>Aac	p.D1452N	CSMD2_ENST00000373380.1_Missense_Mutation_p.D325N|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1412	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)				TAGCCAGGGTCACACTGGAAC	0.582000													32	70					0	0	0.002096	0	0
SIRPB1	10326	broad.mit.edu	37	20	1600548	1600548	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:1600548G>A	ENST00000381605.4	-	1	107	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	SIRPB1_ENST00000381603.3_Silent_p.L15L|RP4-576H24.4_ENST00000564763.1_Silent_p.L15L|SIRPB1_ENST00000568365.1_Silent_p.L15L|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000279477.7_Silent_p.L15L	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	15					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTCATCAGCAGGAAAGGACTA	0.567000													13	49					0	0	0.003163	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576825	158576825	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158576825C>T	ENST00000361284.1	+	1	597	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	199					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)					AGCTGAGGATCTTTATCCTCA	0.512000													31	24					0	0	0.001786	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679563	53679563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:53679563G>A	ENST00000262135.4	-	17	2750	c.2657C>T	c.(2656-2658)tCg>tTg	p.S886L	RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.S886L|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.S886L|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.S886L	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	886					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATGTGCCAACGAAATCAGAGG	0.328000													134	231					0	0	0.003610	0	0
FBXO34	55030	broad.mit.edu	37	14	55818526	55818526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:55818526C>T	ENST00000313833.4	+	2	1663	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	FBXO34_ENST00000440021.1_Missense_Mutation_p.S473F	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	473										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ATTTTAAACTCCTGTGAAGAC	0.423000													43	56					0	0	0.002852	0	0
KMT2A	4297	broad.mit.edu	37	11	118343024	118343024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:118343024C>T	ENST00000534358.1	+	3	1173	c.1150C>T	c.(1150-1152)Caa>Taa	p.Q384*	KMT2A_ENST00000389506.5_Nonsense_Mutation_p.Q384*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.Q384*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AAAGGGGGCTCAAAAGAAAAT	0.423000													26	17					0	0	0.003954	0	0
CHKB	1120	broad.mit.edu	37	22	51020181	51020181	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:51020181G>A	ENST00000406938.2	-	3	661	c.444C>T	c.(442-444)atC>atT	p.I148I	CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	148					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		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)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CCCGTACTGGGATGTACTGTT	0.632000													25	57					0	0	0.003330	0	0
RANBP3L	202151	broad.mit.edu	37	5	36271414	36271414	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:36271414C>T	ENST00000296604.3	-	2	577		c.e2-1		RANBP3L_ENST00000515759.1_Splice_Site|RANBP3L_ENST00000502994.1_Splice_Site	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like						intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ACAGATTTTTCTGTGAAAAAA	0.274000													21	31					0	0	0.003330	0	0
TP53BP1	7158	broad.mit.edu	37	15	43713272	43713272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:43713272G>A	ENST00000263801.3	-	20	4438	c.4186C>T	c.(4186-4188)Cgt>Tgt	p.R1396C	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1401C|TP53BP1_ENST00000382039.3_Intron|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1401C	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1396					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)		CCACGCCCACGAGGCGTGACT	0.572000								Other conserved DNA damage response genes					39	67					0	0	0.001287	0	0
LGALS4	3960	broad.mit.edu	37	19	39294190	39294190	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:39294190G>A	ENST00000307751.4	-	7	1019	c.540_splice	c.e7-1	p.T181_splice		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	181					cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCCTTCCATGGTCTGTGAAGT	0.522000													16	45					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9074913	9074913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9074913G>A	ENST00000397910.4	-	3	12736	c.12533C>T	c.(12532-12534)tCa>tTa	p.S4178L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4180	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						GTGCCCTTGTGATGTCAACAA	0.517000													15	58					0	0	0.003163	0	0
NLRP4	147945	broad.mit.edu	37	19	56369416	56369416	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:56369416C>T	ENST00000301295.6	+	3	1079	c.657C>T	c.(655-657)atC>atT	p.I219I	NLRP4_ENST00000346986.5_Silent_p.I219I|NLRP4_ENST00000587891.1_Silent_p.I144I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	219	NACHT.						ATP binding	p.I219I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAACAGAGATCGTGTCTCAAC	0.537000													40	60					0	0	0.001485	0	0
DIP2C	22982	broad.mit.edu	37	10	409160	409160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:409160G>A	ENST00000280886.6	-	21	2656	c.2569C>T	c.(2569-2571)Cag>Tag	p.Q857*	DIP2C_ENST00000540204.1_Nonsense_Mutation_p.Q178*|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	857						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTCATCCACTGGAAACTGTCC	0.597000													5	17					0	0	0.000602	0	0
ZNF264	9422	broad.mit.edu	37	19	57723539	57723539	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:57723539C>T	ENST00000263095.6	+	4	1488	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	ZNF264_ENST00000536056.1_Silent_p.L358L	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L358L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GGTCATATCTCATGTGGCACC	0.517000													12	50					0	0	0.001368	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809590	18809590	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:18809590C>T	ENST00000400664.1	+	1	2167	c.2115C>T	c.(2113-2115)tgC>tgT	p.C705C		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	705						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGTACGAGTGCGCCACGTACC	0.652000													19	18					0	0	0.000958	0	0
PTPRT	11122	broad.mit.edu	37	20	41306585	41306585	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:41306585G>A	ENST00000373198.3	-	7	1309	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	PTPRT_ENST00000373184.1_Silent_p.I358I|PTPRT_ENST00000373187.1_Silent_p.I358I|PTPRT_ENST00000373190.1_Silent_p.I358I|PTPRT_ENST00000356100.2_Silent_p.I358I|PTPRT_ENST00000373193.3_Silent_p.I358I|PTPRT_ENST00000373201.1_Silent_p.I358I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	358	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAGCACTCGGATCTCATACT	0.562000													29	90					0	0	0.003271	0	0
TAAR6	319100	broad.mit.edu	37	6	132891894	132891894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:132891894C>T	ENST00000275198.1	+	1	434	c.434C>T	c.(433-435)aCc>aTc	p.T145I		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	145						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		ACCAAGTTCACCGTATCTGTG	0.502000													83	148					0	0	0.003610	0	0
MED25	81857	broad.mit.edu	37	19	50338993	50338993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:50338993C>T	ENST00000312865.6	+	16	1809	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C	MED25_ENST00000538643.1_Missense_Mutation_p.R373C	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	586	Interaction with RARA.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCTCCAGCTCCGCCCACCGCA	0.721000													3	5					0	0	0.004672	0	0
RGS22	26166	broad.mit.edu	37	8	101075805	101075805	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:101075805C>T	ENST00000360863.6	-	8	1385	c.1191G>A	c.(1189-1191)agG>agA	p.R397R	RGS22_ENST00000523287.1_Silent_p.R216R|RGS22_ENST00000523437.1_Silent_p.R385R	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	397			R -> M (in dbSNP:rs2446927).		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)			ACCAGTCCGCCCTGCTCTCTG	0.358000													25	69					0	0	0.005443	0	0
PSMA6	5687	broad.mit.edu	37	14	35778136	35778136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:35778136C>T	ENST00000261479.4	+	3	308	c.188C>T	c.(187-189)tCc>tTc	p.S63F	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.S63F|PSMA6_ENST00000540871.1_Missense_Mutation_p.S44F|PSMA6_ENST00000556506.1_Missense_Mutation_p.S63F|PSMA6_ENST00000555764.1_5'UTR	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	63					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 NF-kappaB transcription factor activity|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	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		TTATTGGATTCCAGCACAGTG	0.274000													102	147					0	0	0.003610	0	0
C1orf106	55765	broad.mit.edu	37	1	200869303	200869303	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:200869303G>A	ENST00000367342.4	+	4	707	c.507G>A	c.(505-507)agG>agA	p.R169R	C1orf106_ENST00000413687.2_Silent_p.R84R	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	169										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TTCGCCGCAGGATCGGAGCGG	0.607000													27	23					0	0	0.001786	0	0
BCAS1	8537	broad.mit.edu	37	20	52611550	52611550	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:52611550C>T	ENST00000395961.3	-	6	1094		c.e6+1		BCAS1_ENST00000434986.2_Splice_Site|BCAS1_ENST00000371440.3_Splice_Site|BCAS1_ENST00000371435.2_Splice_Site	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1							cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CAACTACCTACCGTGTCTTCT	0.348000													7	202					0	0	0.000443	0	0
KIAA0754	643314	broad.mit.edu	37	1	39880123	39880123	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:39880123G>T	ENST00000530275.1	+	1	3973	c.3778G>T	c.(3778-3780)Gca>Tca	p.A1260S	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1260										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCTCTGGCTGCAACCGCTGG	0.468000													22	44					9.95505e-16	2.09034e-15	0.002299	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54932736	54932736	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:54932736C>T	ENST00000293373.6	+	30	3331	c.3252C>T	c.(3250-3252)tcC>tcT	p.S1084S	NCKAP1L_ENST00000545638.2_Silent_p.S1034S	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1084					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						ATCGAGAATCCATTTCTCTGC	0.453000													7	33					0	0	0.000443	0	0
SRPK1	6732	broad.mit.edu	37	6	35838079	35838079	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:35838079T>C	ENST00000373825.2	-	10	1255	c.970A>G	c.(970-972)Aaa>Gaa	p.K324E	SRPK1_ENST00000373822.1_Missense_Mutation_p.K217E|SRPK1_ENST00000423325.2_Missense_Mutation_p.K308E			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	324	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						TGGGTCATTTTATTAGGTGGG	0.368000													16	22					0	0	0.001216	0	0
OR56B4	196335	broad.mit.edu	37	11	6129497	6129497	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:6129497C>T	ENST00000316529.3	+	1	584	c.489C>T	c.(487-489)atC>atT	p.I163I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTGACCATCCCAGTGCCTA	0.512000													26	46					0	0	0.001061	0	0
MIOX	55586	broad.mit.edu	37	22	50927489	50927489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:50927489C>T	ENST00000395733.3	+	6	575	c.461C>T	c.(460-462)cCt>cTt	p.P154L	MIOX_ENST00000395732.3_Silent_p.T143T|MIOX_ENST00000216075.6_Silent_p.T143T			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	0					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGGCGACACCTTCCCCGTCG	0.657000													10	11					0	0	0.001368	0	0
MDN1	23195	broad.mit.edu	37	6	90402813	90402813	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:90402813C>T	ENST00000369393.3	-	63	10051	c.9936G>A	c.(9934-9936)aaG>aaA	p.K3312K	MDN1_ENST00000428876.1_Silent_p.K3312K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3312					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)		AGGCCTGTTTCTTCAACAGGT	0.512000													12	45					0	0	0.002450	0	0
CACNA1C	775	broad.mit.edu	37	12	2224708	2224708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:2224708G>A	ENST00000399655.1	+	2	633	c.368G>A	c.(367-369)tGg>tAg	p.W123*	CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W123*	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	123					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)	ATTGTCGAATGGAAATATCCT	0.647000													10	41					0	0	0.000673	0	0
STARD10	10809	broad.mit.edu	37	11	72466185	72466185	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:72466185G>A	ENST00000334805.6	-	7	1552	c.633C>T	c.(631-633)gcC>gcT	p.A211A	STARD10_ENST00000545082.1_Silent_p.A182A|STARD10_ENST00000543304.1_Silent_p.A211A|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000538536.1_Silent_p.A165A	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	211	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TCTTCTTCATGGCCTGTGGGC	0.667000													22	98					0	0	0.003330	0	0
OIT3	170392	broad.mit.edu	37	10	74690355	74690355	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:74690355T>A	ENST00000334011.5	+	8	1645	c.1427T>A	c.(1426-1428)tTc>tAc	p.F476Y		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	476	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GCAAAGCACTTCCAGGTCCCT	0.418000													37	109					0	0	0.001287	0	0
MED12L	116931	broad.mit.edu	37	3	151105867	151105867	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:151105867C>T	ENST00000474524.1	+	35	5291	c.5253C>T	c.(5251-5253)tcC>tcT	p.S1751S	MED12L_ENST00000273432.4_Silent_p.S1611S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1751					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAAGGAAGTCCGCTGAGCTGT	0.502000													15	16					0	0	0.003163	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039539	55039539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:55039539G>A	ENST00000370862.3	+	1	490	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	52					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)			GCACCCGAAAGAATATGAGTG	0.557000													9	62					0	0	0.004482	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24533825	24533825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:24533825C>T	ENST00000357578.3	+	10	1638	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S511F|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S410F|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.S470F	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	498					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GGATTAATTTCCTCTGTGGAG	0.517000													36	117					0	0	0.001485	0	0
MYBPC3	4607	broad.mit.edu	37	11	47356646	47356646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:47356646C>T	ENST00000399249.2	-	26	2906	c.2852G>A	c.(2851-2853)gGg>gAg	p.G951E	MYBPC3_ENST00000256993.4_Missense_Mutation_p.G950E|MYBPC3_ENST00000545968.1_Missense_Mutation_p.G951E			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	950	Fibronectin type-III 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGCTCCAGGCCCTGCCATATT	0.637000													13	10					0	0	0.001855	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399212	22399212	+	Missense_Mutation	SNP	G	G	A	rs138159912		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:22399212G>A	ENST00000263160.3	+	12	2112	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	559					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TAGTGGTTGGGAAAAGAAAGA	0.368000													7	13					0	0	0.003080	0	0
AOX1	316	broad.mit.edu	37	2	201473824	201473824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:201473824G>A	ENST00000374700.2	+	11	1266	c.1025G>A	c.(1024-1026)gGa>gAa	p.G342E		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	342	FAD-binding PCMH-type.				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)	AAGCATTTGGGAACTCTGGCT	0.498000													13	15					0	0	0.003163	0	0
IQSEC3	440073	broad.mit.edu	37	12	278263	278263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:278263C>T	ENST00000538872.1	+	12	3174	c.3056C>T	c.(3055-3057)tCg>tTg	p.S1019L	IQSEC3_ENST00000537151.1_3'UTR|IQSEC3_ENST00000382841.2_Missense_Mutation_p.S716L|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S1019L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1019					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAGCAAGGATCGCCGACAGGT	0.642000													14	36					0	0	0.002450	0	0
SYNE1	23345	broad.mit.edu	37	6	152708267	152708267	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:152708267G>A	ENST00000367255.5	-	54	9028	c.8427C>T	c.(8425-8427)ttC>ttT	p.F2809F	SYNE1_ENST00000448038.1_Silent_p.F2816F|SYNE1_ENST00000423061.1_Silent_p.F2816F|SYNE1_ENST00000341594.5_Silent_p.F2848F|SYNE1_ENST00000265368.4_Silent_p.F2809F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2809					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)		CTGTGTCCTTGAAAGACTCAT	0.428000										HNSCC(10;0.0054)			20	65					0	0	0.001882	0	0
BTBD9	114781	broad.mit.edu	37	6	38565854	38565854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:38565854G>A	ENST00000481247.1	-	2	168	c.17C>T	c.(16-18)cCt>cTt	p.P6L	BTBD9_ENST00000403056.1_Missense_Mutation_p.P6L	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	6					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GGGGCGAAGAGGGTGGCTGTT	0.438000													17	62					0	0	0.000958	0	0
ABCC9	10060	broad.mit.edu	37	12	21971127	21971127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:21971127G>A	ENST00000261200.4	-	30	3727	c.3728C>T	c.(3727-3729)tCg>tTg	p.S1243L	ABCC9_ENST00000261201.4_Missense_Mutation_p.S1243L|ABCC9_ENST00000345162.2_Missense_Mutation_p.S1207L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1243	ABC transmembrane type-1 2.				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)	TCCAGAATTCGAAGACCCACT	0.408000													17	99					0	0	0.004990	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77509952	77509952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:77509952C>T	ENST00000477717.1	+	3	560	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	109					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCTGCACAGTCGGCAAGGCTC	0.617000													18	37					0	0	0.000958	0	0
KCNQ1	3784	broad.mit.edu	37	11	2869092	2869092	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:2869092C>T	ENST00000155840.5	+	16	1998	c.1890C>T	c.(1888-1890)ccC>ccT	p.P630P	KCNQ1_ENST00000526095.1_3'UTR|KCNQ1_ENST00000335475.5_Silent_p.P503P|KCNQ1-AS1_ENST00000440887.2_RNA	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	630				LHGGSTPGSGGPPREGGAHITQPCGS -> MQQGGPTCNSR SQVVASNE (in Ref. 4; AAM94040).	blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GCGGCGGCCCCCCCAGAGAGG	0.701000													11	59					0	0	0.002450	0	0
ASCL1	429	broad.mit.edu	37	12	103352346	103352346	+	Silent	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:103352346T>C	ENST00000266744.3	+	1	883	c.324T>C	c.(322-324)ttT>ttC	p.F108F		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	108					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						TCAGCGGCTTTGGCTACAGCC	0.667000													3	11					0	0	0.004672	0	0
DACH1	1602	broad.mit.edu	37	13	72147000	72147000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:72147000G>A	ENST00000305425.4	-	4	1699	c.1277C>T	c.(1276-1278)cCa>cTa	p.P426L	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.P478L	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	476					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AACTCTGGATGGGGGACTCTG	0.423000													18	31					0	0	0.001882	0	0
UNC79	57578	broad.mit.edu	37	14	94046668	94046668	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:94046668G>A	ENST00000553484.1	+	19	2761	c.2607G>A	c.(2605-2607)caG>caA	p.Q869Q	UNC79_ENST00000555664.1_Silent_p.Q869Q|UNC79_ENST00000256339.4_Silent_p.Q692Q|UNC79_ENST00000393151.2_Silent_p.Q869Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	869						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						TCTGCTATCAGCTTGCTTGTG	0.478000													21	54					0	0	0.002780	0	0
HEG1	57493	broad.mit.edu	37	3	124732282	124732282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:124732282G>A	ENST00000311127.4	-	6	2208	c.2141C>T	c.(2140-2142)tCc>tTc	p.S714F		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	714	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGATGGTGAGGAAGACCATGG	0.458000													24	55					0	0	0.003330	0	0
KIF13A	63971	broad.mit.edu	37	6	17772153	17772153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:17772153G>A	ENST00000378814.5	-	36	4422	c.4423C>T	c.(4423-4425)Ctt>Ttt	p.L1475F	KIF13A_ENST00000259711.6_Missense_Mutation_p.L1488F|KIF13A_ENST00000378816.5_Missense_Mutation_p.L1488F|KIF13A_ENST00000378826.2_Missense_Mutation_p.L1488F|KIF13A_ENST00000378843.2_Missense_Mutation_p.L1475F	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1488					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGGCTTAGAAGAGGCCTTGCT	0.458000													110	152					0	0	0.003610	0	0
TNR	7143	broad.mit.edu	37	1	175362950	175362950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:175362950G>A	ENST00000367674.1	-	6	2030	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	TNR_ENST00000263525.2_Missense_Mutation_p.S441F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	441	Fibronectin type-III 2.				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)					CCCATCGAAGGAAAATGAGAA	0.458000													51	181					0	0	0.003610	0	0
TNR	7143	broad.mit.edu	37	1	175372522	175372522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:175372522G>A	ENST00000367674.1	-	4	1438	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F	TNR_ENST00000263525.2_Missense_Mutation_p.L244F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	244	Cys-rich.				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)					TCCACGCAGAGCCCCCGGGAG	0.642000													51	32					0	0	0.003610	0	0
ITGB6	3694	broad.mit.edu	37	2	161052042	161052042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:161052042G>A	ENST00000283249.2	-	4	668	c.431C>T	c.(430-432)tCc>tTc	p.S144F	ITGB6_ENST00000409967.2_Missense_Mutation_p.S144F|ITGB6_ENST00000409872.1_Missense_Mutation_p.S144F|ITGB6_ENST00000428609.2_Missense_Mutation_p.S102F|ITGB6_ENST00000485635.1_5'UTR			P18564	ITB6_HUMAN	integrin, beta 6	144	VWFA.				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						GTCATCCATGGAGGCGGAGAG	0.522000													46	40					0	0	0.003610	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802710	96802710	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:96802710G>A	ENST00000371270.3	-	7	1180	c.1086C>T	c.(1084-1086)gtC>gtT	p.V362V	CYP2C8_ENST00000535898.1_Silent_p.V260V|CYP2C8_ENST00000539050.1_Silent_p.V276V	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	362					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)	CACCGGTGGGGACAAGGTCAC	0.488000													5	55					0	0	0.000602	0	0
YBX3	8531	broad.mit.edu	37	12	10856689	10856689	+	Missense_Mutation	SNP	G	G	A	rs141479423	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:10856689G>A	ENST00000228251.4	-	7	1039	c.839C>T	c.(838-840)cCg>cTg	p.P280L	YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Missense_Mutation_p.P211L	NM_003651.4	NP_003642.3			Y box binding protein 3																		TCGATGAACCGGTCCCTGAAG	0.507000													42	80					0	0	0.003610	0	0
FN1	2335	broad.mit.edu	37	2	216264013	216264013	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:216264013G>A	ENST00000354785.4	-	21	3684	c.3315C>T	c.(3313-3315)atC>atT	p.I1105I	FN1_ENST00000357009.2_Silent_p.I1105I|FN1_ENST00000359671.1_Silent_p.I1105I|FN1_ENST00000356005.4_Silent_p.I1105I|FN1_ENST00000345488.5_Silent_p.I1105I|FN1_ENST00000323926.6_Silent_p.I1105I|FN1_ENST00000336916.4_Silent_p.I1105I|FN1_ENST00000421182.1_Silent_p.I1105I|FN1_ENST00000357867.4_Silent_p.I1105I|FN1_ENST00000443816.1_Silent_p.I1105I|FN1_ENST00000446046.1_Silent_p.I1105I|FN1_ENST00000346544.3_Silent_p.I1105I|FN1_ENST00000432072.2_Silent_p.I1105I			P02751	FINC_HUMAN	fibronectin 1	1105	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGTCCATGTGATCACAATGG	0.468000													10	56					0	0	0.001855	0	0
CDYL2	124359	broad.mit.edu	37	16	80718436	80718436	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:80718436G>A	ENST00000299564.8	-	2	770	c.616_splice	c.e2+1	p.L205_splice	CDYL2_ENST00000563890.1_Splice_Site_p.L205_splice|CDYL2_ENST00000566173.1_Splice_Site_p.L205_splice|CDYL2_ENST00000562812.1_Splice_Site_p.L205_splice	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	205						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GCTACAAACCGAGCCCGTTCT	0.527000													27	41					0	0	0.001786	0	0
ABCA13	154664	broad.mit.edu	37	7	48313338	48313338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:48313338G>A	ENST00000435803.1	+	17	4099	c.4075G>A	c.(4075-4077)Gaa>Aaa	p.E1359K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1359					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGTATTTTAGAAGATGGCTT	0.333000													11	24					0	0	0.000978	0	0
MYOT	9499	broad.mit.edu	37	5	137219247	137219247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:137219247G>A	ENST00000239926.4	+	7	1365	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.E147K|MYOT_ENST00000515645.1_Missense_Mutation_p.E216K	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	331	Ig-like C2-type 1.|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)			TAGAGCAGGAGAAGCCACCTT	0.423000													5	46					0	0	0.000602	0	0
MEFV	4210	broad.mit.edu	37	16	3304748	3304748	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:3304748G>T	ENST00000219596.1	-	2	359	c.320C>A	c.(319-321)tCc>tAc	p.S107Y	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	107					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAGGGAGCTGGACGCTGCGGA	0.592000													6	102					1.12685e-05	2.34122e-05	0.004482	1	0
RGMB	285704	broad.mit.edu	37	5	98115297	98115297	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:98115297G>A	ENST00000308234.7	+	4	675	c.273G>A	c.(271-273)caG>caA	p.Q91Q	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000513185.1_Silent_p.Q50Q	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	50					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		ACTGCCAACAGCCAGCCCAAT	0.453000													30	190					0	0	0.004289	0	0
ATP2A1	487	broad.mit.edu	37	16	28898962	28898962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:28898962G>A	ENST00000395503.4	+	8	1031	c.847G>A	c.(847-849)Gtc>Atc	p.V283I	ATP2A1_ENST00000357084.3_Missense_Mutation_p.V283I|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V158I	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	283					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CAACGACCCCGTCCATGGGGG	0.557000													12	101					0	0	0.000978	0	0
KRT12	3859	broad.mit.edu	37	17	39023203	39023203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:39023203C>T	ENST00000251643.4	-	1	259	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	79	Gly-rich.|Head.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ACCCAGTCCTCCTGCCATGGA	0.597000													42	32					0	0	0.002222	0	0
P4HA3	283208	broad.mit.edu	37	11	73984630	73984630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:73984630C>T	ENST00000331597.4	-	10	1403	c.1358G>A	c.(1357-1359)aGa>aAa	p.R453K	P4HA3_ENST00000427714.2_Missense_Mutation_p.R453K	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	453	Fe2OG dioxygenase.					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)					TGACTTCATTCTGTAGAGGGG	0.388000													17	24					0	0	0.001523	0	0
TESK2	10420	broad.mit.edu	37	1	45813622	45813622	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:45813622G>A	ENST00000372086.3	-	6	991	c.591C>T	c.(589-591)gaC>gaT	p.D197D	TESK2_ENST00000341771.6_Silent_p.D197D|TESK2_ENST00000538496.1_Silent_p.D114D|TESK2_ENST00000372084.1_Silent_p.D197D|TESK2_ENST00000486676.1_5'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	197	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CCAGGCCAAAGTCAGCTACCA	0.522000													47	68					0	0	0.003610	0	0
C7orf33	202865	broad.mit.edu	37	7	148288132	148288132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:148288132C>T	ENST00000307003.2	+	1	476	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	39										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GATTGACCTTCGCCTGAGTGG	0.557000													24	58					0	0	0.002780	0	0
ZNF165	7718	broad.mit.edu	37	6	28056771	28056771	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:28056771G>A	ENST00000377325.1	+	4	1537	c.981G>A	c.(979-981)aaG>aaA	p.K327K		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	327					viral reproduction	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(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AATCTTTCAAGAGCCCAAAAC	0.368000													15	31					0	0	0.002450	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190494	32190494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:32190494G>A	ENST00000375023.3	-	3	383	c.245C>T	c.(244-246)gCc>gTc	p.A82V		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	82	EGF-like 2.				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						GGGAAGCAGGGCTTGGCAGCT	0.637000													18	434					0	0	0.000958	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1798340	1798340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:1798340G>A	ENST00000250894.4	+	7	1244	c.1087G>A	c.(1087-1089)Gga>Aga	p.G363R	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.G363R|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	363					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGACCGCACAGGAAGCAGGTA	0.582000													11	20					0	0	0.000978	0	0
ATP6V1A	523	broad.mit.edu	37	3	113513742	113513742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:113513742C>T	ENST00000273398.3	+	9	1120	c.1012C>T	c.(1012-1014)Cgt>Tgt	p.R338C	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.R305C	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	338					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAGTACTTCCGTGACATGGG	0.408000													54	110					0	0	0.003610	0	0
XIST	7503	broad.mit.edu	37	X	73070206	73070206	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:73070206G>A	ENST00000429829.1	-	0	2382					NR_001564.2																						TAATTAAAGTGAATTCTACAA	0.279000													14	5					0	0	0.001855	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447010	17447010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:17447010C>T	ENST00000541323.1	+	3	534	c.89C>T	c.(88-90)cCa>cTa	p.P30L	PDGFRL_ENST00000251630.6_Missense_Mutation_p.P30L|PDGFRL_ENST00000398074.3_Missense_Mutation_p.P30L	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	30						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AACAAGCGTCCAAAAGAACCA	0.423000													50	93					0	0	0.003610	0	0
FAM179B	23116	broad.mit.edu	37	14	45537756	45537756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:45537756C>T	ENST00000361462.2	+	18	5062	c.4879C>T	c.(4879-4881)Cca>Tca	p.P1627S	FAM179B_ENST00000361577.3_Missense_Mutation_p.P1574S|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1574							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CATGCTAATTCCAGCAATAGT	0.388000													9	37					0	0	0.000673	0	0
NELL1	4745	broad.mit.edu	37	11	20939776	20939776	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:20939776A>G	ENST00000298925.5	+	7	889	c.736A>G	c.(736-738)Aca>Gca	p.T246A	NELL1_ENST00000357134.5_Missense_Mutation_p.T218A|NELL1_ENST00000325319.5_Missense_Mutation_p.T161A|NELL1_ENST00000532434.1_Missense_Mutation_p.T218A			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	218					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGGATATATAACACAGTGTCC	0.353000													6	16					0	0	0.003080	0	0
BIRC5	332	broad.mit.edu	37	17	76212781	76212781	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:76212781C>T	ENST00000301633.4	+	4	458	c.327C>T	c.(325-327)ttC>ttT	p.F109F	BIRC5_ENST00000592734.1_Intron|AC087645.1_ENST00000600484.1_Silent_p.R272R|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000350051.3_Silent_p.F86F|BIRC5_ENST00000374948.2_Intron	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	86					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			GTTGCGCTTTCCTTTCTGTCA	0.413000													35	80					0	0	0.003755	0	0
ACTL6B	51412	broad.mit.edu	37	7	100245114	100245114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:100245114C>T	ENST00000160382.5	-	8	818	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	238					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGTAGCTTCTCCTTCTTCTTC	0.612000													32	63					0	0	0.001287	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16812746	16812746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:16812746C>T	ENST00000448080.2	-	20	2763	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Splice_Site_p.E916_splice|PLEKHA7_ENST00000355661.3_Splice_Site_p.E916_splice|PLEKHA7_ENST00000332954.4_5'UTR	NM_175058.4	NP_778228.3	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	916	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCTTCATCTTCCTGCTGAGAA	0.617000													10	14					0	0	0.002450	0	0
KIAA1804	84451	broad.mit.edu	37	1	233511738	233511738	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:233511738G>A	ENST00000366624.3	+	7	2013	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	MLK4_ENST00000366622.1_Silent_p.R30R	NM_032435.2	NP_115811.2																					ATGTAAAAAGGAATTTTAAGA	0.348000													16	69					0	0	0.003163	0	0
PTCH2	8643	broad.mit.edu	37	1	45288249	45288249	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:45288249G>A	ENST00000372192.3	-	22	3580	c.3450C>T	c.(3448-3450)ccC>ccT	p.P1150P	PTCH2_ENST00000447098.2_Intron	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1150					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)					CAAAGCTCTGGGGCAGGGAGG	0.627000									Basal Cell Nevus syndrome				21	73					0	0	0.001523	0	0
DBNDD1	79007	broad.mit.edu	37	16	90075245	90075245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:90075245G>A	ENST00000392973.3	-	2	1015	c.284C>T	c.(283-285)gCc>gTc	p.A95V	DBNDD1_ENST00000002501.6_Missense_Mutation_p.A89V|DBNDD1_ENST00000568838.1_Missense_Mutation_p.A209V|DBNDD1_ENST00000304733.3_Missense_Mutation_p.A109V			Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	89						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		AAAGACCTCGGCCAGCTCCTG	0.647000													12	16					0	0	0.001855	0	0
CSMD2	114784	broad.mit.edu	37	1	34123683	34123683	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:34123683C>A	ENST00000373381.4	-	27	4486	c.4310G>T	c.(4309-4311)aGt>aTt	p.S1437I	CSMD2_ENST00000373380.1_Missense_Mutation_p.S310I|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1397	Sushi 8.					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)				ACTGTCACCACTCCGACTCCC	0.582000													41	57					6.5261e-18	1.37095e-17	0.001951	1	0
MDGA1	266727	broad.mit.edu	37	6	37623535	37623535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:37623535C>T	ENST00000434837.2	-	4	1698	c.520G>A	c.(520-522)Gat>Aat	p.D174N	MDGA1_ENST00000297153.7_Missense_Mutation_p.D174N|MDGA1_ENST00000505425.1_Missense_Mutation_p.D174N	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	174	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						GATAGGGTATCGGAACCCCGC	0.587000													5	13					0	0	0.001984	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601809	138601809	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:138601809T>C	ENST00000440172.1	-	2	2611	c.2563A>G	c.(2563-2565)Acc>Gcc	p.T855A	KIAA1549_ENST00000422774.1_Missense_Mutation_p.T855A|KIAA1549_ENST00000242365.4_Missense_Mutation_p.T805A	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	855						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGAAGGGGGTTGCTTCAGAA	0.577000			O	BRAF	pilocytic astrocytoma								15	17					0	0	0.004990	0	0
RGPD3	653489	broad.mit.edu	37	2	107041192	107041192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:107041192C>T	ENST00000409886.3	-	20	3318	c.3231G>A	c.(3229-3231)tgG>tgA	p.W1077*	RGPD3_ENST00000304514.7_Nonsense_Mutation_p.W1077*	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1077	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCCTTTCTTTCCACTGACTTA	0.383000													10	361					0	0	0.001368	0	0
CNTN4	152330	broad.mit.edu	37	3	2967439	2967439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:2967439G>A	ENST00000397461.1	+	12	1718	c.1334G>A	c.(1333-1335)aGg>aAg	p.R445K	CNTN4_ENST00000427331.1_Missense_Mutation_p.R445K|CNTN4_ENST00000358480.3_Missense_Mutation_p.R226K|CNTN4_ENST00000397459.2_Missense_Mutation_p.R117K|CNTN4_ENST00000418658.1_Missense_Mutation_p.R445K|CNTN4_ENST00000448906.2_Missense_Mutation_p.R117K|CNTN4_ENST00000475817.1_3'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	445	Ig-like C2-type 5.				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)		AAGAAAGGAAGGGATATATTA	0.348000													48	111					0	0	0.003610	0	0
CAD	790	broad.mit.edu	37	2	27457094	27457094	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:27457094G>A	ENST00000264705.4	+	22	3780	c.3618_splice	c.e22+1	p.K1206_splice	CAD_ENST00000403525.1_Splice_Site_p.K1143_splice	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1206	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCATTGCCAAGGTAATAAGGC	0.522000													10	48					0	0	0.000978	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84900627	84900627	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:84900627C>T	ENST00000262424.5	+	7	1058	c.834C>T	c.(832-834)acC>acT	p.T278T	CRISPLD2_ENST00000567845.1_Silent_p.T277T|CRISPLD2_ENST00000564567.1_Silent_p.T278T	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	278						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CCAAGAAAACCTCTGCGGTCA	0.587000													12	28					0	0	0.000978	0	0
ANAPC7	51434	broad.mit.edu	37	12	110824147	110824147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:110824147G>A	ENST00000455511.3	-	6	904	c.904C>T	c.(904-906)Cct>Tct	p.P302S	ANAPC7_ENST00000450008.2_Missense_Mutation_p.P302S	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	302				P -> L (in Ref. 1; AAF05754).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						ATCAGATAAGGATCCAACATC	0.438000													142	157					0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21231904	21231904	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:21231904G>A	ENST00000233242.1	-	26	7963	c.7836C>T	c.(7834-7836)ttC>ttT	p.F2612F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2612					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)	CAGGTGTCTGGAAGGTAGCTT	0.413000													44	186					0	0	0.003610	0	0
TMEM176B	28959	broad.mit.edu	37	7	150488648	150488648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:150488648C>T	ENST00000447204.2	-	7	1156	c.784G>A	c.(784-786)Gag>Aag	p.E262K	TMEM176B_ENST00000434545.1_Missense_Mutation_p.E262K|TMEM176B_ENST00000450753.2_Missense_Mutation_p.E225K|TMEM176B_ENST00000326442.5_Missense_Mutation_p.E262K|TMEM176B_ENST00000492607.1_Missense_Mutation_p.E262K|TMEM176B_ENST00000429904.2_Missense_Mutation_p.E262K	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	262					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)		GAGGTCTGCTCCCTAGAGGGC	0.567000													16	49					0	0	0.003330	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578269	67578269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:67578269G>A	ENST00000310421.4	-	1	1183	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	309	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATGCCACTGAGGGAATCTAAC	0.473000													30	74					0	0	0.002445	0	0
TACC2	10579	broad.mit.edu	37	10	123842291	123842291	+	Silent	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:123842291T>C	ENST00000369005.1	+	4	616	c.276T>C	c.(274-276)ggT>ggC	p.G92G	TACC2_ENST00000515603.1_Silent_p.G92G|TACC2_ENST00000453444.2_Silent_p.G92G|TACC2_ENST00000515273.1_Silent_p.G92G|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.G92G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	92						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)				GGCCAGAAGGTTCTTTGCTGC	0.637000													18	22					0	0	0.001882	0	0
KIF27	55582	broad.mit.edu	37	9	86465139	86465139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:86465139C>T	ENST00000297814.2	-	16	3574	c.3431G>A	c.(3430-3432)cGg>cAg	p.R1144Q	KIF27_ENST00000413982.1_Missense_Mutation_p.R1078Q|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.R1047Q	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1144					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CATATTATCCCGTTCCAGAAC	0.388000													40	29					0	0	0.005524	0	0
NYAP2	57624	broad.mit.edu	37	2	226446890	226446890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:226446890C>T	ENST00000272907.6	+	4	1170	c.757C>T	c.(757-759)Ctc>Ttc	p.L253F	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	253																	GGGGAACATTCTCAGAGACTT	0.592000													24	99					0	0	0.003330	0	0
DSCAM	1826	broad.mit.edu	37	21	42064779	42064779	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:42064779G>A	ENST00000400454.1	-	3	942	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	155	Ig-like C2-type 2.				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)				AGACGACAGTGATGTACGCCT	0.522000													21	40					0	0	0.001216	0	0
ECHDC2	55268	broad.mit.edu	37	1	53364886	53364886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:53364886G>A	ENST00000536120.1	-	11	1392	c.575C>T	c.(574-576)gCc>gTc	p.A192V	ECHDC2_ENST00000358358.5_Missense_Mutation_p.A207V|ECHDC2_ENST00000371522.4_Missense_Mutation_p.A238V			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	238					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CAGCCGCACGGCAATGGGGGC	0.547000													17	52					0	0	0.006122	0	0
TDRD5	163589	broad.mit.edu	37	1	179604942	179604942	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:179604942C>T	ENST00000444136.1	+	9	1690	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	TDRD5_ENST00000294848.8_Silent_p.I480I|TDRD5_ENST00000367614.1_Silent_p.I480I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	480					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGGAGTATATCATCTCTCCTA	0.453000													13	69					0	0	0.002450	0	0
ERC2	26059	broad.mit.edu	37	3	56330423	56330423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:56330423C>T	ENST00000288221.6	-	3	953	c.698G>A	c.(697-699)cGa>cAa	p.R233Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	233						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)		TCTCTGGGTTCGCAGCTCATC	0.522000													25	46					0	0	0.002780	0	0
MYH11	4629	broad.mit.edu	37	16	15818255	15818255	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:15818255C>T	ENST00000338282.6	-	31	4234	c.4128G>A	c.(4126-4128)tcG>tcA	p.S1376S	MYH11_ENST00000576790.1_Silent_p.S1376S|NDE1_ENST00000396354.1_3'UTR|MYH11_ENST00000396324.3_Silent_p.S1383S|NDE1_ENST00000396355.1_3'UTR|MYH11_ENST00000300036.5_Silent_p.S1376S|NDE1_ENST00000571896.1_3'UTR|MYH11_ENST00000452625.2_Silent_p.S1383S|NDE1_ENST00000342673.5_3'UTR	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1376					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTTCTTCTTCGAGTCGGAGA	0.587000			T	CBFB	AML								19	54					0	0	0.002780	0	0
SFMBT1	51460	broad.mit.edu	37	3	52946618	52946618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:52946618G>A	ENST00000394752.3	-	16	2048	c.1666C>T	c.(1666-1668)Ctt>Ttt	p.L556F	SFMBT1_ENST00000358080.2_Missense_Mutation_p.L556F|SFMBT1_ENST00000394750.1_Missense_Mutation_p.L556F|SFMBT1_ENST00000296295.6_Missense_Mutation_p.L556F	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	556					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AGCTCCCGAAGGACACGGCTG	0.463000													26	69					0	0	0.001512	0	0
OR13A1	79290	broad.mit.edu	37	10	45798957	45798957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:45798957G>A	ENST00000553795.1	-	4	1222	c.914C>T	c.(913-915)cCc>cTc	p.P305L	OR13A1_ENST00000374401.2_Missense_Mutation_p.P305L|OR13A1_ENST00000536058.1_Missense_Mutation_p.P305L	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						ATAGATGAGGGGGTTGAGGGT	0.493000													11	33					0	0	0.000978	0	0
CCNB3	85417	broad.mit.edu	37	X	50053951	50053951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:50053951G>A	ENST00000376042.1	+	6	3080	c.2782G>A	c.(2782-2784)Gaa>Aaa	p.E928K	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E928K			Q8WWL7	CCNB3_HUMAN	cyclin B3	928					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)					AGTCCTCTTCGAAGATATGAT	0.468000													13	10					0	0	0.004007	0	0
DNAH7	56171	broad.mit.edu	37	2	196746715	196746715	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:196746715C>T	ENST00000312428.6	-	36	5865	c.5763_splice	c.e36-1	p.G1922_splice		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1922					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						TTTTCCTATTCCCTGTTTATA	0.338000													17	27					0	0	0.006122	0	0
TM9SF3	56889	broad.mit.edu	37	10	98303926	98303926	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:98303926G>A	ENST00000371142.4	-	9	1308	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	364						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CTGGGATAAGGAATGCCCCAA	0.353000													9	39					0	0	0.000673	0	0
CPZ	8532	broad.mit.edu	37	4	8620164	8620164	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:8620164G>A	ENST00000429646.2	+	8	3129	c.336G>A	c.(334-336)cgG>cgA	p.R112R	CPZ_ENST00000360986.4_Silent_p.R504R|CPZ_ENST00000315782.6_Silent_p.R493R|CPZ_ENST00000382480.2_Silent_p.R367R			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	504	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGTGCACCGGGGCATCAAAG	0.592000													14	51					0	0	0.006122	0	0
POLL	27343	broad.mit.edu	37	10	103339389	103339389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:103339389G>A	ENST00000370162.3	-	9	2043	c.1549C>T	c.(1549-1551)Cga>Tga	p.R517*	DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Nonsense_Mutation_p.R517*|POLL_ENST00000370168.3_Nonsense_Mutation_p.R190*|POLL_ENST00000370172.1_Nonsense_Mutation_p.R429*|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Nonsense_Mutation_p.R240*|POLL_ENST00000370158.3_Nonsense_Mutation_p.R242*|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000456836.2_Nonsense_Mutation_p.R254*|POLL_ENST00000370169.1_Nonsense_Mutation_p.R517*	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	517					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GCCAGGGCTCGCATGGAGCGG	0.627000								DNA polymerases (catalytic subunits)					22	68					0	0	0.003954	0	0
HSF2	3298	broad.mit.edu	37	6	122744791	122744791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:122744791C>T	ENST00000452194.1	+	10	1323	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	HSF2_ENST00000465214.1_3'UTR|HSF2_ENST00000368455.4_Missense_Mutation_p.S379L	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	379	Hydrophobic repeat HR-C.				response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		GCCATGCTATCAGGAAGACAA	0.348000													13	14					0	0	0.004990	0	0
OR2S2	56656	broad.mit.edu	37	9	35958057	35958057	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:35958057G>A	ENST00000341959.2	-	1	94	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	13					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)			TCAGGAGAACGAACCCCATCA	0.537000													20	30					0	0	0.001882	0	0
ZDHHC8P1	150244	broad.mit.edu	37	22	23742356	23742356	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:23742356G>A	ENST00000255890.4	-	0	853																											TGGGTCGCCCGTTGCCCCAGG	0.692000													8	13					0	0	0.000978	0	0
ZFAS1	441951	broad.mit.edu	37	20	47897250	47897250	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:47897250C>T	ENST00000450535.1	+	0	730				ZFAS1_ENST00000417721.1_RNA|ZFAS1_ENST00000371743.3_RNA|SNORD12_ENST00000391002.1_RNA|ZFAS1_ENST00000428008.1_RNA|ZFAS1_ENST00000326677.5_RNA|ZFAS1_ENST00000441722.1_RNA|ZFAS1_ENST00000458653.1_RNA																							AGCTTCTTTCCCCATCAGATC	0.453000													39	77					0	0	0.003610	0	0
SYT10	341359	broad.mit.edu	37	12	33592343	33592343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:33592343G>A	ENST00000228567.3	-	1	411	c.115C>T	c.(115-117)Cct>Tct	p.P39S	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	39						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTGTCCCGAGGGAAGATGCCC	0.682000													31	67					0	0	0.001786	0	0
RNF17	56163	broad.mit.edu	37	13	25353861	25353861	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr13:25353861C>T	ENST00000255324.5	+	5	538	c.486C>T	c.(484-486)ttC>ttT	p.F162F	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Silent_p.F162F|RNF17_ENST00000381921.1_Silent_p.F162F	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	162					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACCATAGTTTCGAACAGTTAA	0.348000													18	30					0	0	0.006122	0	0
ADAM28	10863	broad.mit.edu	37	8	24181424	24181424	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:24181424C>T	ENST00000265769.4	+	9	908	c.798C>T	c.(796-798)acC>acT	p.T266T	RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Silent_p.T266T|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Silent_p.T33T|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Silent_p.T13T|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	266	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TAAAGATAACCCCAAATGCAA	0.383000													4	6					0	0	0.000248	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733245	106733245	+	RNA	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:106733245G>A	ENST00000390610.2	-	0	309																											ACTCTGCCCTGGAACTTCTGT	0.522000													49	183					0	0	0.003214	0	0
VWF	7450	broad.mit.edu	37	12	6127662	6127662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:6127662C>T	ENST00000261405.5	-	28	5176	c.4922G>A	c.(4921-4923)aGg>aAg	p.R1641K		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1641	VWFA 2.				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)	CCAGCCAATCCTCTCCAGCTC	0.612000													27	24					0	0	0.001786	0	0
GRM1	2911	broad.mit.edu	37	6	146755485	146755485	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:146755485G>A	ENST00000361719.2	+	9	3608	c.3138G>A	c.(3136-3138)ccG>ccA	p.P1046P	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_Silent_p.P1046P	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1046					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)	CCGCGATCCCGGATTTTCACG	0.677000													8	32					0	0	0.003080	0	0
STARD4	134429	broad.mit.edu	37	5	110835784	110835784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:110835784C>T	ENST00000296632.3	-	6	552	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	140	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		GGTCTCTTTTCATCCCAGTCA	0.333000													12	20					0	0	0.003163	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874906	20874906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:20874906C>T	ENST00000381552.1	+	8	1312	c.944C>T	c.(943-945)tCc>tTc	p.S315F	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.S197F|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.S266F|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.S315F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.S315F			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	315					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)					TCTGAGAAATCCAAGTTTATT	0.373000													12	18					0	0	0.001368	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817355	26817355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:26817355G>A	ENST00000444914.3	+	3	682	c.262G>A	c.(262-264)Gag>Aag	p.E88K	SLC13A2_ENST00000314669.5_Intron|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000545060.1_Intron	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.E88*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ATCCAGTTTCGAGAGCCCAGG	0.522000													21	18					0	0	0.001216	0	0
PRRG3	79057	broad.mit.edu	37	X	150868980	150868980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:150868980G>A	ENST00000370353.3	+	4	561	c.171G>A	c.(169-171)atG>atA	p.M57I	PRRG3_ENST00000370354.1_3'UTR|PRRG3_ENST00000538575.1_Missense_Mutation_p.M57I			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	57	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGCAGATGGAGTTCTGGA	0.532000													11	89					0	0	0.000978	0	0
NPSR1	387129	broad.mit.edu	37	7	34874056	34874056	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:34874056G>A	ENST00000360581.1	+	6	869	c.741G>A	c.(739-741)gtG>gtA	p.V247V	NPSR1_ENST00000381539.3_Silent_p.V247V|NPSR1_ENST00000359791.1_Silent_p.V247V|NPSR1_ENST00000381542.1_Silent_p.V181V|NPSR1_ENST00000531252.1_Silent_p.V236V	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	247						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ACGAAACAGTGATTTCCAACT	0.423000													18	22					0	0	0.001882	0	0
ADAM18	8749	broad.mit.edu	37	8	39468132	39468132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:39468132G>A	ENST00000265707.5	+	6	474	c.429G>A	c.(427-429)atG>atA	p.M143I	ADAM18_ENST00000379866.1_Missense_Mutation_p.M143I|ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000520772.1_Missense_Mutation_p.M143I	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	143					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)			TTTATCAAATGAAAAATAATG	0.333000													11	29					0	0	0.000673	0	0
LZTS2	84445	broad.mit.edu	37	10	102763647	102763647	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:102763647C>T	ENST00000370220.1	+	2	3855	c.792C>T	c.(790-792)gtC>gtT	p.V264V	LZTS2_ENST00000370223.3_Silent_p.V264V			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	264	Required for centrosomal localization (By similarity).|Ser-rich.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CCCGAGGGGTCCCTACTGGGC	0.701000													7	24					0	0	0.001984	0	0
HERC2	8924	broad.mit.edu	37	15	28370267	28370267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:28370267G>A	ENST00000261609.7	-	84	12983	c.12875C>T	c.(12874-12876)cCt>cTt	p.P4292L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4292					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TACCAACCGAGGCCTCTGGAT	0.557000													59	127					0	0	0.003610	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232951	1232951	+	Silent	SNP	C	C	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:1232951C>G	ENST00000324642.3	+	3	510	c.387C>G	c.(385-387)tcC>tcG	p.S129S	SLC6A18_ENST00000296821.4_Silent_p.S129S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	129					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCTCAACTCCTTCCAGCACC	0.647000													21	40					0	0	0.002299	0	0
SCNN1G	6340	broad.mit.edu	37	16	23224185	23224185	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:23224185C>T	ENST00000300061.2	+	10	1544	c.1401C>T	c.(1399-1401)agC>agT	p.S467S	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	467					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TAACCACAAGCCTGGCACAAT	0.577000													27	35					0	0	0.004656	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877951	76877951	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:76877951T>A	ENST00000328299.3	+	3	620	c.472T>A	c.(472-474)Ttc>Atc	p.F158I	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	158					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TTGGGGACCTTTCCGCAATAT	0.393000													8	25					0	0	0.004482	0	0
MED15	51586	broad.mit.edu	37	22	20937674	20937674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:20937674C>T	ENST00000263205.7	+	13	1799	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	MED15_ENST00000382974.2_Missense_Mutation_p.S466L|MED15_ENST00000406969.1_Missense_Mutation_p.S511L|MED15_ENST00000425759.2_Missense_Mutation_p.S426L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.S537L|MED15_ENST00000541476.1_Missense_Mutation_p.S511L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	577					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ACAGACCCCTCGAAGCGGTGA	0.537000													25	90					0	0	0.004656	0	0
OR2L2	26246	broad.mit.edu	37	1	248202499	248202499	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:248202499G>A	ENST00000366479.2	+	1	1026	c.930G>A	c.(928-930)gtG>gtA	p.V310V	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTTCTCAGTGAAAATGTAGA	0.438000													25	35					0	0	0.001512	0	0
EBF2	64641	broad.mit.edu	37	8	25708231	25708231	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:25708231G>A	ENST00000520164.1	-	15	2112	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	EBF2_ENST00000408929.3_Silent_p.I377I|EBF2_ENST00000535548.1_3'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	525	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AAAATGGGAGGATGGAGGATG	0.498000													9	39					0	0	0.000443	0	0
WDR66	144406	broad.mit.edu	37	12	122437759	122437759	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:122437759C>T	ENST00000288912.4	+	20	3998	c.3144C>T	c.(3142-3144)atC>atT	p.I1048I		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1048							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGTGGCATCCACAAGAGCT	0.448000													25	37					0	0	0.003954	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139727	142139727	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:142139727C>T	ENST00000390374.3	-	0	88																											CTCACCTGTCCCTAGGAAACC	0.532000													28	67					0	0	0.002836	0	0
POTEE	445582	broad.mit.edu	37	2	131976027	131976027	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:131976027T>G	ENST00000356920.5	+	1	146	c.52T>G	c.(52-54)Ttt>Gtt	p.F18V	POTEE_ENST00000358087.5_Missense_Mutation_p.F18V|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	18							ATP binding	p.F18fs*107(1)									GAAGAAGCCATTTGGTCTCAG	0.557000													50	61					0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38946740	38946740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:38946740G>A	ENST00000302328.3	-	11	1744	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S	SCN11A_ENST00000444237.2_Missense_Mutation_p.P516S|SCN11A_ENST00000450244.1_Missense_Mutation_p.P516S|SCN11A_ENST00000456224.3_Missense_Mutation_p.P516S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	516					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTTGGAGAGGATCTCCATGC	0.498000													46	93					0	0	0.002852	0	0
CALCRL	10203	broad.mit.edu	37	2	188225386	188225386	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:188225386G>A	ENST00000409998.1	-	11	1501	c.720C>T	c.(718-720)ctC>ctT	p.L240L	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Silent_p.L240L|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Silent_p.L240L			Q16602	CALRL_HUMAN	calcitonin receptor-like	240						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)			CCACCACAATGAGTGTGTGTA	0.403000													4	12					0	0	0.000602	0	0
ZBTB4	57659	broad.mit.edu	37	17	7369619	7369619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:7369619G>A	ENST00000311403.4	-	3	841	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	ZBTB4_ENST00000380599.4_Missense_Mutation_p.R168C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CCCAGACGGCGCCCCAAAGCT	0.647000													10	8					0	0	0.001855	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060387	144060387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:144060387G>A	ENST00000056217.5	+	2	799	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	209					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCAGGGGGAAGAGCTGCCACC	0.552000													56	361					0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846549	228846549	+	Missense_Mutation	SNP	G	G	A	rs62621004		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:228846549G>A	ENST00000392056.3	-	12	5033	c.4987C>T	c.(4987-4989)Cgg>Tgg	p.R1663W	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1634W	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1663						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)		CAGGACTTCCGATGAACCAGC	0.493000													18	19					0	0	0.002299	0	0
IRAK2	3656	broad.mit.edu	37	3	10261447	10261447	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:10261447G>A	ENST00000256458.4	+	8	1077	c.987G>A	c.(985-987)ctG>ctA	p.L329L		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	329	Protein kinase.				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						TGCATGGTCTGGAGATCATCC	0.617000													13	21					0	0	0.004007	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820324	159820324	+	RNA	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:159820324C>T	ENST00000497452.1	-	0	517																											GAGCACCAGACCCCCTCCCAA	0.458000													19	39					0	0	0.006122	0	0
CSMD1	64478	broad.mit.edu	37	8	3200950	3200950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:3200950G>A	ENST00000602557.1	-	24	4055	c.3500C>T	c.(3499-3501)tCc>tTc	p.S1167F	CSMD1_ENST00000539096.1_Missense_Mutation_p.S1166F|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1167F|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1166F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1166F|CSMD1_ENST00000520002.1_Missense_Mutation_p.S1167F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1167F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1167	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGACGTGAGGAACTGTCTTT	0.423000													6	10					0	0	0.003080	0	0
SYNE1	23345	broad.mit.edu	37	6	152563399	152563399	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:152563399G>A	ENST00000367255.5	-	107	20470	c.19869C>T	c.(19867-19869)atC>atT	p.I6623I	SYNE1_ENST00000448038.1_Silent_p.I6552I|SYNE1_ENST00000423061.1_Silent_p.I6552I|SYNE1_ENST00000356820.4_Silent_p.I1147I|SYNE1_ENST00000341594.5_Silent_p.I6235I|SYNE1_ENST00000265368.4_Silent_p.I6623I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6623					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)		GTAGTTGCTGGATTTCCTCTT	0.403000										HNSCC(10;0.0054)			17	68					0	0	0.001882	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399224	22399224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:22399224G>A	ENST00000263160.3	+	12	2124	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	563					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAAGAAAGAGGAATTTGTACA	0.363000													6	17					0	0	0.001984	0	0
SEPP1	6414	broad.mit.edu	37	5	42804856	42804856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:42804856G>A	ENST00000514985.1	-	4	692	c.436C>T	c.(436-438)Cat>Tat	p.H146Y	SEPP1_ENST00000507920.1_Intron|SEPP1_ENST00000511224.1_Missense_Mutation_p.H146Y|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.H146Y	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	146					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						AAACCAAGATGATATACAAGA	0.368000													19	19					0	0	0.001216	0	0
CTCFL	140690	broad.mit.edu	37	20	56094315	56094315	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:56094315C>T	ENST00000426658.2	-	3	1534	c.873G>A	c.(871-873)ctG>ctA	p.L291L	CTCFL_ENST00000429804.2_Silent_p.L291L|CTCFL_ENST00000539382.1_Silent_p.L86L|CTCFL_ENST00000423479.2_Silent_p.L291L|CTCFL_ENST00000371196.2_Silent_p.L291L|CTCFL_ENST00000422869.2_Silent_p.L291L|CTCFL_ENST00000422109.2_Silent_p.L291L|CTCFL_ENST00000502686.2_Silent_p.L29L|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000243914.3_Silent_p.L291L|CTCFL_ENST00000433949.2_Silent_p.L291L|CTCFL_ENST00000432255.2_Silent_p.L291L			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	291					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGAAGGTTTTCAGGCAGAGGT	0.473000													33	66					0	0	0.004289	0	0
H3F3C	440093	broad.mit.edu	37	12	31944860	31944860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:31944860C>T	ENST00000340398.3	-	1	315	c.241G>A	c.(241-243)Gac>Aac	p.D81N		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	81					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						AACCTCAGGTCAGTGTTGAAA	0.577000										HNSCC(67;0.2)			20	53					0	0	0.002299	0	0
ZNF99	7652	broad.mit.edu	37	19	22940086	22940086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:22940086C>T	ENST00000397104.3	-	6	2244	c.2245G>A	c.(2245-2247)Gaa>Aaa	p.E749K						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCACATTCTTCACATTTGTAG	0.358000													18	26					0	0	0.006122	0	0
CCDC11	220136	broad.mit.edu	37	18	47769408	47769408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr18:47769408C>T	ENST00000398545.4	-	6	1192	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	359										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)		CTGTCAAATTCTTTCTCCTGA	0.383000													83	68					0	0	0.003610	0	0
PARD3	56288	broad.mit.edu	37	10	34606153	34606153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:34606153C>T	ENST00000374789.3	-	20	3281	c.2956G>A	c.(2956-2958)Gat>Aat	p.D986N	PARD3_ENST00000374773.1_Missense_Mutation_p.D953N|PARD3_ENST00000340077.5_Missense_Mutation_p.D983N|PARD3_ENST00000350537.4_Missense_Mutation_p.D940N|PARD3_ENST00000374794.3_Missense_Mutation_p.D911N|PARD3_ENST00000544292.1_Missense_Mutation_p.D699N|PARD3_ENST00000545260.1_Missense_Mutation_p.D896N|PARD3_ENST00000374790.3_Missense_Mutation_p.D926N|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374776.1_Missense_Mutation_p.D940N|PARD3_ENST00000346874.4_Missense_Mutation_p.D986N|PARD3_ENST00000374788.3_Missense_Mutation_p.D983N|PARD3_ENST00000545693.1_Missense_Mutation_p.D970N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	986	Lys-rich.				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			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)				tcagtcttatcacctttctct	0.403000													13	44					0	0	0.001855	0	0
ANKS4B	257629	broad.mit.edu	37	16	21245187	21245187	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:21245187G>A	ENST00000311620.5	+	1	202	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	43										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CCTACCATGGGAACTTGGAAG	0.463000													47	77					0	0	0.003610	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722282	58722282	+	Missense_Mutation	SNP	C	C	T	rs151204927		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:58722282C>T	ENST00000300079.5	+	5	369	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.R76C	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	76						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AAACGTATATCGTATGTTCTC	0.383000													9	37					0	0	0.000443	0	0
IGFN1	91156	broad.mit.edu	37	1	201186546	201186546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:201186546G>A	ENST00000335211.4	+	17	9857	c.9727G>A	c.(9727-9729)Ggg>Agg	p.G3243R	IGFN1_ENST00000295591.8_Missense_Mutation_p.G403R	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						GCGTAAGAAGGGGAGCAACAC	0.642000													25	76					0	0	0.001061	0	0
OR7E24	26648	broad.mit.edu	37	19	9362401	9362401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:9362401C>T	ENST00000456448.1	+	1	796	c.682C>T	c.(682-684)Cct>Tct	p.P228S		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGGCTGTCTCCCTATCTCAGG	0.438000													6	29					0	0	0.001984	0	0
ZNF471	57573	broad.mit.edu	37	19	57035811	57035811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:57035811G>A	ENST00000308031.5	+	5	508	c.375G>A	c.(373-375)tgG>tgA	p.W125*	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AAGAAAATTGGAAATGGGAAG	0.378000													11	48					0	0	0.000673	0	0
SMG6	23293	broad.mit.edu	37	17	2202428	2202428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:2202428G>A	ENST00000544865.1	-	2	2036	c.1526C>T	c.(1525-1527)cCa>cTa	p.P509L	SMG6_ENST00000263073.5_Missense_Mutation_p.P540L			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	540					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTAAGGCCCTGGGTACACACC	0.577000													8	132					0	0	0.004482	0	0
PAX5	5079	broad.mit.edu	37	9	37015113	37015113	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:37015113T>A	ENST00000358127.4	-	3	365	c.291A>T	c.(289-291)gaA>gaT	p.E97D	PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.E97D|PAX5_ENST00000520281.1_Missense_Mutation_p.E97D|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000377847.2_Missense_Mutation_p.E97D|PAX5_ENST00000414447.1_Missense_Mutation_p.E97D|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000523241.1_Missense_Mutation_p.E97D|PAX5_ENST00000520154.1_Missense_Mutation_p.E97D|PAX5_ENST00000377852.2_Missense_Mutation_p.E97D	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	97	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CAGCGATTTTTTCCACCACTT	0.507000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								120	211					0	0	0.003610	0	0
PSD2	84249	broad.mit.edu	37	5	139193026	139193026	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:139193026T>G	ENST00000274710.3	+	3	709	c.504T>G	c.(502-504)gaT>gaG	p.D168E		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	168					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCACGGATGAGAGCGACA	0.652000													19	23					0	0	0.001523	0	0
OR2A12	346525	broad.mit.edu	37	7	143793115	143793115	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:143793115G>A	ENST00000408949.2	+	1	975	c.915G>A	c.(913-915)tgG>tgA	p.W305*		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	305					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)					GAGTCCTTTGGAAACAGAGAT	0.423000													63	121					0	0	0.003610	0	0
TNPO3	23534	broad.mit.edu	37	7	128630095	128630095	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:128630095A>G	ENST00000393245.1	-	11	1893	c.1520T>C	c.(1519-1521)gTa>gCa	p.V507A	TNPO3_ENST00000265388.5_Missense_Mutation_p.V473A|TNPO3_ENST00000471166.1_Missense_Mutation_p.V507A|TNPO3_ENST00000471234.1_Missense_Mutation_p.V473A|TNPO3_ENST00000482320.1_Missense_Mutation_p.V407A	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	473					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AGCCGTATGTACGGTCTCCGG	0.473000													34	52					0	0	0.003755	0	0
FBLIM1	54751	broad.mit.edu	37	1	16101277	16101277	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:16101277G>A	ENST00000375766.3	+	7	1516	c.876G>A	c.(874-876)ctG>ctA	p.L292L	FBLIM1_ENST00000375771.1_Silent_p.L292L|FBLIM1_ENST00000400773.1_Silent_p.L195L|FBLIM1_ENST00000332305.5_Silent_p.L195L|FBLIM1_ENST00000441801.2_Silent_p.L292L	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	292	LIM zinc-binding 2.|PLEKHC1-binding.				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)		TGTACTGCCTGGACGACTTCT	0.622000													50	49					0	0	0.003610	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276335	153276335	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:153276335T>C	ENST00000290722.1	-	4	579	c.527A>G	c.(526-528)aAg>aGg	p.K176R		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	176					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCTTACCCTTCCTGGGCAT	0.532000													32	80					0	0	0.001287	0	0
OR6N1	128372	broad.mit.edu	37	1	158736456	158736456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158736456C>T	ENST00000335094.2	-	1	36	c.17G>A	c.(16-18)tGg>tAg	p.W6*		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TACCTGGCTCCAGTTCCCTGT	0.463000													5	16					0	0	0.001984	0	0
INTS8	55656	broad.mit.edu	37	8	95850803	95850803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:95850803C>T	ENST00000523731.1	+	8	1107	c.974C>T	c.(973-975)cCa>cTa	p.P325L	INTS8_ENST00000447247.1_Missense_Mutation_p.P325L	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	325					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CAGTTGACTCCATATAGTCAA	0.408000													207	445					0	0	0.003610	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724708	113724708	+	Silent	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:113724708A>G	ENST00000295878.3	-	10	1661	c.1515T>C	c.(1513-1515)ggT>ggC	p.G505G	KIAA1407_ENST00000545063.1_Silent_p.G336G	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	505										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCTGAAGGGAACCCTGCAAGT	0.547000													44	80					0	0	0.003214	0	0
KDM6B	23135	broad.mit.edu	37	17	7752023	7752023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:7752023C>T	ENST00000254846.5	+	11	2806	c.2417C>T	c.(2416-2418)tCc>tTc	p.S806F	KDM6B_ENST00000448097.2_Missense_Mutation_p.S806F	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	806	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGCTCAAATCCTTGGCCTCC	0.647000													26	16					0	0	0.004656	0	0
NLRP12	91662	broad.mit.edu	37	19	54318225	54318225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:54318225G>A	ENST00000324134.6	-	2	475	c.307C>T	c.(307-309)Ccg>Tcg	p.P103S	NLRP12_ENST00000354278.3_Missense_Mutation_p.P103S|NLRP12_ENST00000351894.4_Missense_Mutation_p.P103S|NLRP12_ENST00000391772.1_Missense_Mutation_p.P103S|NLRP12_ENST00000535162.1_Missense_Mutation_p.P103S|NLRP12_ENST00000345770.5_Missense_Mutation_p.P103S|NLRP12_ENST00000391773.1_Missense_Mutation_p.P103S|NLRP12_ENST00000391775.3_Missense_Mutation_p.P103S	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	103					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGTGAGGACGGGCCACCAGGT	0.493000													42	69					0	0	0.003610	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241516377	241516377	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:241516377C>T	ENST00000270357.3	+	10	1754	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	387					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		ATCCTGACCTCCACAGGGTGC	0.652000													17	61					0	0	0.001216	0	0
ACTR1A	10121	broad.mit.edu	37	10	104241783	104241783	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:104241783G>A	ENST00000369905.4	-	8	963	c.900C>T	c.(898-900)ctC>ctT	p.L300L	ACTR1A_ENST00000446605.2_Silent_p.L253L|ACTR1A_ENST00000487599.1_Silent_p.L300L|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000545684.1_Silent_p.L226L	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	300					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AGCCTCCTGAGAGGACAATGT	0.542000													11	41					0	0	0.000673	0	0
ROR2	4920	broad.mit.edu	37	9	94486784	94486784	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:94486784G>A	ENST00000375708.3	-	9	2190	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	ROR2_ENST00000375715.1_Silent_p.I524I|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	664	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCCGTACATGATGGCCTCTG	0.592000													16	17					0	0	0.004990	0	0
ITIH5	80760	broad.mit.edu	37	10	7697622	7697622	+	Missense_Mutation	SNP	G	G	A	rs139355305		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:7697622G>A	ENST00000256861.6	-	2	185	c.107C>T	c.(106-108)cCg>cTg	p.P36L	ITIH5_ENST00000397146.2_Missense_Mutation_p.P36L|ITIH5_ENST00000397145.2_Missense_Mutation_p.P36L|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	36	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GACTTGCCTCGGGACCCTGAG	0.403000													15	59					0	0	0.006122	0	0
GRM4	2914	broad.mit.edu	37	6	34101214	34101214	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:34101214G>A	ENST00000374181.3	-	1	229	c.60C>T	c.(58-60)ctC>ctT	p.L20L	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Silent_p.L20L	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	20					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CGTAAAGGCTGAGGAGCAGGC	0.622000													18	28					0	0	0.000958	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601088	64601088	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:64601088T>C	ENST00000498707.1	-	21	3440	c.3098A>G	c.(3097-3099)gAt>gGt	p.D1033G	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D1005G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1033	TSP type-1 4.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTTGCTGTCATCCAGTACATC	0.438000													160	361					0	0	0.003610	0	0
SOS1	6654	broad.mit.edu	37	2	39224440	39224440	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:39224440T>A	ENST00000426016.1	-	19	3004	c.2918A>T	c.(2917-2919)cAg>cTg	p.Q973L	SOS1_ENST00000402219.2_Missense_Mutation_p.Q973L|SOS1_ENST00000395038.2_Missense_Mutation_p.Q973L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	973	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATTTTGGTACTGCTGGATCTC	0.343000									Noonan syndrome				28	108					0	0	0.001271	0	0
BCL11A	53335	broad.mit.edu	37	2	60688871	60688871	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:60688871C>T	ENST00000335712.6	-	4	1403	c.1176G>A	c.(1174-1176)ctG>ctA	p.L392L	BCL11A_ENST00000538214.1_Silent_p.L358L|BCL11A_ENST00000537768.1_Silent_p.L61L|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Silent_p.L392L|BCL11A_ENST00000358510.4_Silent_p.L358L	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	392					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGTGCACCACCAGGTTGCTCT	0.627000			T	IGH@	B-CLL								148	192					0	0	0.003610	0	0
LANCL2	55915	broad.mit.edu	37	7	55496114	55496114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:55496114C>T	ENST00000254770.2	+	8	1810	c.1232C>T	c.(1231-1233)cCt>cTt	p.P411L		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	411					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TGCCGCATTCCTGACAGACCC	0.448000													20	58					0	0	0.001523	0	0
ANLN	54443	broad.mit.edu	37	7	36458935	36458935	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:36458935C>T	ENST00000265748.2	+	10	1937	c.1716C>T	c.(1714-1716)gtC>gtT	p.V572V	ANLN_ENST00000396068.2_Silent_p.V535V	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	572	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TCAGTGATGTCCTAGAGGAAG	0.383000													20	47					0	0	0.001216	0	0
DOCK1	1793	broad.mit.edu	37	10	129202694	129202694	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:129202694G>A	ENST00000280333.6	+	40	4168		c.e40+1			NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1						apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATTCCTGCGGGTAAAGTTTGG	0.507000													4	12					0	0	0.000602	0	0
FAM71A	149647	broad.mit.edu	37	1	212799628	212799628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:212799628G>A	ENST00000294829.3	+	1	1840	c.1409G>A	c.(1408-1410)aGa>aAa	p.R470K	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	470										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)		AGAGCCAATAGAGATGACAAA	0.562000													20	82					0	0	0.001882	0	0
MED12L	116931	broad.mit.edu	37	3	150908568	150908568	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:150908568C>T	ENST00000474524.1	+	13	1856	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	MED12L_ENST00000309237.4_Silent_p.F606F|MED12L_ENST00000422248.2_Silent_p.F606F|MED12L_ENST00000273432.4_Silent_p.F466F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	606					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTGCGAGTTCATCCGCCATG	0.478000													17	38					0	0	0.004990	0	0
GPT	2875	broad.mit.edu	37	8	145731981	145731981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:145731981G>A	ENST00000394955.2	+	9	1452	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D	GPT_ENST00000528431.1_Missense_Mutation_p.G410D	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	410					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCAGTGCAGGGCGCCATGTAC	0.721000													4	4					0	0	0.000248	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919319	130919319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:130919319G>A	ENST00000261655.4	-	11	2325	c.2162C>T	c.(2161-2163)tCg>tTg	p.S721L	RIMBP2_ENST00000535703.1_Missense_Mutation_p.S629L|RIMBP2_ENST00000536002.1_Missense_Mutation_p.S629L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	721						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTCGTCCACCGAGGCGCCCCT	0.657000													20	77					0	0	0.001523	0	0
PYHIN1	149628	broad.mit.edu	37	1	158912086	158912086	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:158912086T>C	ENST00000368140.1	+	5	1144	c.899T>C	c.(898-900)gTt>gCt	p.V300A	PYHIN1_ENST00000392252.3_Missense_Mutation_p.V291A|PYHIN1_ENST00000368138.3_Missense_Mutation_p.V291A|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.V300A	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	300	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACGTTTGAGGTTCCAAAGGAC	0.348000													12	37					0	0	0.001368	0	0
MEGF10	84466	broad.mit.edu	37	5	126790295	126790295	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:126790295C>T	ENST00000274473.6	+	24	3285	c.3018C>T	c.(3016-3018)tcC>tcT	p.S1006S	MEGF10_ENST00000503335.2_Silent_p.S1006S|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1006	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGGGAAAATCCTTAAAAGGTA	0.323000													21	18					0	0	0.003954	0	0
DCTN1	1639	broad.mit.edu	37	2	74598765	74598765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:74598765C>T	ENST00000361874.3	-	8	861	c.544G>A	c.(544-546)Gag>Aag	p.E182K	DCTN1_ENST00000409567.3_Missense_Mutation_p.E162K|DCTN1_ENST00000409868.1_Missense_Mutation_p.E165K|DCTN1_ENST00000394003.3_Missense_Mutation_p.E175K|DCTN1_ENST00000407639.2_Missense_Mutation_p.E48K|DCTN1_ENST00000409438.1_Missense_Mutation_p.E48K|DCTN1_ENST00000409240.1_Missense_Mutation_p.E145K	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	182	Ser-rich.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTGCTGGGCTCACTGCTGCTC	0.672000													8	6					0	0	0.004482	0	0
TRAK1	22906	broad.mit.edu	37	3	42264721	42264721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:42264721C>T	ENST00000327628.5	+	16	2754	c.2354C>T	c.(2353-2355)tCg>tTg	p.S785L	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.S727L	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	785					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCGCCGAACTCGCCTATGCAG	0.632000													21	29					0	0	0.002780	0	0
PNMA5	114824	broad.mit.edu	37	X	152158808	152158808	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:152158808G>A	ENST00000439251.1	-	2	1773	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P	PNMA5_ENST00000361887.5_Silent_p.P445P|PNMA5_ENST00000535214.1_Silent_p.P445P|PNMA5_ENST00000452693.1_Silent_p.P445P	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	445					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCCCAGGGCTTGGGAT	0.597000													31	18					0	0	0.003755	0	0
FAM110C	642273	broad.mit.edu	37	2	46017	46017	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:46017C>T	ENST00000327669.4	-	1	368	c.369G>A	c.(367-369)gtG>gtA	p.V123V		NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	123						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		AGAGCTTCTTCACCAGGCTTG	0.672000													9	11					0	0	0.000978	0	0
COL12A1	1303	broad.mit.edu	37	6	75797404	75797404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:75797404C>T	ENST00000322507.8	-	65	9379	c.9070G>A	c.(9070-9072)Ggc>Agc	p.G3024S	COL12A1_ENST00000345356.6_Missense_Mutation_p.G1860S|COL12A1_ENST00000483888.2_Missense_Mutation_p.G3020S|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2948S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3024	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCAGGGGGGCCAGGGGGACCT	0.542000													44	70					0	0	0.003610	0	0
LTBP1	4052	broad.mit.edu	37	2	33623595	33623595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:33623595G>A	ENST00000404816.2	+	34	5502	c.5149G>A	c.(5149-5151)Gac>Aac	p.D1717N	LTBP1_ENST00000402934.1_Missense_Mutation_p.D1336N|LTBP1_ENST00000418533.2_Missense_Mutation_p.D1349N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D1338N|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1718N|LTBP1_ENST00000272273.5_Missense_Mutation_p.D615N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D1392N|LTBP1_ENST00000407925.1_Missense_Mutation_p.D1391N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1717					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)				TTTAGAGAAAGACAGTGACCT	0.438000													18	69					0	0	0.000958	0	0
MYO7B	4648	broad.mit.edu	37	2	128324317	128324317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:128324317G>A	ENST00000389524.4	+	5	438	c.385G>A	c.(385-387)Gag>Aag	p.E129K	MYO7B_ENST00000409816.2_Missense_Mutation_p.E129K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E129K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	129	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)		CCATATGGGCGAGCTGCCCCC	0.587000													14	13					0	0	0.003163	0	0
ZNF91	7644	broad.mit.edu	37	19	23542804	23542804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:23542804G>A	ENST00000300619.7	-	4	3182	c.2977C>T	c.(2977-2979)Ccc>Tcc	p.P993S	ZNF91_ENST00000397082.2_Missense_Mutation_p.P961S|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	993						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CATTTGTAGGGTTTCTCTCCA	0.388000													6	52					0	0	0.001168	0	0
CACNA1H	8912	broad.mit.edu	37	16	1256116	1256116	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:1256116C>T	ENST00000348261.5	+	12	2864	c.2616C>T	c.(2614-2616)atC>atT	p.I872I	CACNA1H_ENST00000565831.1_Silent_p.I872I|CACNA1H_ENST00000358590.4_Silent_p.I872I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	872					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCTGGGAGATCGTGGGGCAGG	0.706000													3	1					0	0	0.004672	0	0
CYP3A4	1576	broad.mit.edu	37	7	99359815	99359815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:99359815G>A	ENST00000354593.2	-	6	755	c.652C>T	c.(652-654)Cca>Tca	p.P218S	CYP3A4_ENST00000336411.2_Missense_Mutation_p.P368S			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	368			P -> R (in allele CYP3A4*5; dbSNP:rs55901263).		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)	ATAGCAATTGGGAATAATCTG	0.443000													16	45					0	0	0.004007	0	0
TPSG1	25823	broad.mit.edu	37	16	1272781	1272781	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:1272781G>T	ENST00000234798.4	-	4	386	c.382C>A	c.(382-384)Ctg>Atg	p.L128M		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	128	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				AGCTCCACCAGGGCGATGTCC	0.657000													7	17					5.4927e-09	1.14421e-08	0.004482	1	0
SUSD4	55061	broad.mit.edu	37	1	223408420	223408420	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:223408420G>A	ENST00000344029.6	-	6	892	c.747C>T	c.(745-747)ttC>ttT	p.F249F	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000343846.3_Intron	NM_001037175.2	NP_001032252.1	Q5VX71	SUSD4_HUMAN	sushi domain containing 4	0	Sushi 4.					integral to membrane		p.F249F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AAAGGACAGGGAAAAGATGTT	0.398000													6	37					0	0	0.001984	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629301	9629301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:9629301G>A	ENST00000382492.2	-	1	1162	c.844C>T	c.(844-846)Cct>Tct	p.P282S	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	282					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						TTCAATTTAGGATTTCCTAAA	0.363000													24	41					0	0	0.003954	0	0
PDE2A	5138	broad.mit.edu	37	11	72288586	72288586	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr11:72288586A>G	ENST00000334456.5	-	31	2913	c.2668T>C	c.(2668-2670)Tcc>Ccc	p.S890P	PDE2A_ENST00000444035.2_Missense_Mutation_p.S881P|PDE2A_ENST00000544570.1_Missense_Mutation_p.S883P|PDE2A_ENST00000376450.3_Missense_Mutation_p.S634P|PDE2A_ENST00000540345.1_Missense_Mutation_p.S881P|PDE2A_ENST00000418754.2_Missense_Mutation_p.S775P	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	890	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TCACGGTTGGAGGCCACGCGC	0.617000													66	295					0	0	0.003610	0	0
GPSM1	26086	broad.mit.edu	37	9	139252516	139252516	+	Silent	SNP	G	G	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:139252516G>T	ENST00000440944.1	+	14	2092	c.1872G>T	c.(1870-1872)cgG>cgT	p.R624R	GPSM1_ENST00000429455.1_Silent_p.R115R|GPSM1_ENST00000392944.1_Silent_p.R115R	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	624					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TACTGCCCCGGGGCCCTACCA	0.687000													16	15					0.00121646	0.00251746	0.001216	1	0
ZNF335	63925	broad.mit.edu	37	20	44589505	44589505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr20:44589505G>A	ENST00000322927.2	-	11	1763	c.1663C>T	c.(1663-1665)Ccg>Tcg	p.P555S	ZNF335_ENST00000426788.1_Missense_Mutation_p.P400S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGACTCACCGGATCTGGCCTC	0.587000													8	18					0	0	0.000443	0	0
A1CF	29974	broad.mit.edu	37	10	52575901	52575901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:52575901C>T	ENST00000395489.2	-	11	1381	c.985G>A	c.(985-987)Gat>Aat	p.D329N	A1CF_ENST00000374001.1_Missense_Mutation_p.D336N|A1CF_ENST00000282641.2_Missense_Mutation_p.D336N|A1CF_ENST00000373997.3_Missense_Mutation_p.D336N|A1CF_ENST00000395495.1_Missense_Mutation_p.D281N|A1CF_ENST00000493415.1_5'UTR|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.D344N|A1CF_ENST00000373993.1_Missense_Mutation_p.D336N	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	336					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTGGTGGGATCATAAACTTGG	0.517000													4	17					0	0	0.000602	0	0
OSBPL10	114884	broad.mit.edu	37	3	31712392	31712392	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:31712392A>T	ENST00000396556.2	-	9	1932	c.1810T>A	c.(1810-1812)Tgg>Agg	p.W604R	OSBPL10_ENST00000438237.2_Missense_Mutation_p.W540R	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	604					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AGCTCCACCCACGGGATGGTG	0.562000													29	52					0	0	0.002836	0	0
MYO15A	51168	broad.mit.edu	37	17	18045051	18045051	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:18045051C>T	ENST00000205890.5	+	23	5954	c.5616C>T	c.(5614-5616)gtC>gtT	p.V1872V	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1872	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)					TGTGCAAAGTCATGCCAAACA	0.577000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	39					0	0	0.003610	0	0
KIAA1841	84542	broad.mit.edu	37	2	61331052	61331052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:61331052C>T	ENST00000402291.1	+	13	1671	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F	KIAA1841_ENST00000453873.1_Missense_Mutation_p.S477F|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S477F|KIAA1841_ENST00000356719.2_Missense_Mutation_p.S477F	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	477										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATTTGCCGTCCTGTCCCACT	0.443000													17	50					0	0	0.006122	0	0
PLA2G2F	64600	broad.mit.edu	37	1	20466686	20466686	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:20466686C>T	ENST00000375102.3	+	2	246	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	5					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AGAAGTTCTTCACCGTGGCCA	0.597000													30	25					0	0	0.002445	0	0
FAM13C	220965	broad.mit.edu	37	10	61028373	61028373	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:61028373C>T	ENST00000373867.3	-	9	1098	c.633G>A	c.(631-633)caG>caA	p.Q211Q	FAM13C_ENST00000442566.3_Silent_p.Q315Q|FAM13C_ENST00000373868.2_Silent_p.Q294Q|FAM13C_ENST00000422313.2_Silent_p.Q294Q|FAM13C_ENST00000468840.2_Silent_p.Q211Q|FAM13C_ENST00000419214.2_Silent_p.Q294Q|FAM13C_ENST00000277705.6_Silent_p.Q315Q|FAM13C_ENST00000435852.2_Silent_p.Q294Q	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	294										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTTGAGGCTCTGGATGTGCT	0.498000													6	13					0	0	0.001984	0	0
MORC1	27136	broad.mit.edu	37	3	108818307	108818307	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:108818307G>A	ENST00000232603.5	-	6	403	c.321C>T	c.(319-321)tcC>tcT	p.S107S	MORC1_ENST00000483760.1_Silent_p.S107S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	107					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAATTCTCATGGACCCACTAT	0.353000													11	27					0	0	0.000673	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631588	141631588	+	Silent	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:141631588A>G	ENST00000546910.1	-	6	580	c.384T>C	c.(382-384)ttT>ttC	p.F128F	CLEC5A_ENST00000551012.2_Silent_p.F105F|CLEC5A_ENST00000438351.1_Silent_p.F105F|CLEC5A_ENST00000470595.1_5'UTR|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000439991.1_Silent_p.F24F	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	128	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TTAAGCCAATAAAATACTTCT	0.388000													25	79					0	0	0.005443	0	0
GRM3	2913	broad.mit.edu	37	7	86394533	86394533	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:86394533G>A	ENST00000361669.2	+	2	1171	c.72G>A	c.(70-72)ggG>ggA	p.G24G	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Silent_p.G22G|GRM3_ENST00000439827.1_Silent_p.G24G|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	24					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCTCTTTAGGGGACCATAACT	0.393000													7	14					0	0	0.001984	0	0
ABRA	137735	broad.mit.edu	37	8	107782250	107782250	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:107782250G>A	ENST00000311955.3	-	1	223	c.169C>T	c.(169-171)Cag>Tag	p.Q57*		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	57					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GGTGAGTCCTGGGTCCCTCCC	0.617000													21	64					0	0	0.003954	0	0
CSF2RA	1438	broad.mit.edu	37	X	1404810	1404810	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:1404810C>T	ENST00000381524.3	+	4	402	c.216C>T	c.(214-216)ccC>ccT	p.P72P	CSF2RA_ENST00000355805.2_Silent_p.P72P|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000381529.3_Silent_p.P72P|CSF2RA_ENST00000381509.3_Silent_p.P72P|CSF2RA_ENST00000432318.2_Silent_p.P72P|CSF2RA_ENST00000381500.1_Silent_p.P72P|CSF2RA_ENST00000417535.2_Silent_p.P72P|CSF2RA_ENST00000355432.3_Silent_p.P72P|CSF2RA_ENST00000361536.3_Silent_p.P72P			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	72						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCGTGGAACCCAGGGTGAGAC	0.517000													77	175					0	0	0.003610	0	0
NLRP3	114548	broad.mit.edu	37	1	247588508	247588508	+	Missense_Mutation	SNP	G	G	A	rs142624094		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:247588508G>A	ENST00000366497.2	+	4	2543	c.1763G>A	c.(1762-1764)aGg>aAg	p.R588K	NLRP3_ENST00000336119.3_Missense_Mutation_p.R588K|NLRP3_ENST00000391827.2_Missense_Mutation_p.R588K|NLRP3_ENST00000348069.2_Missense_Mutation_p.R588K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.R588K|NLRP3_ENST00000366496.2_Missense_Mutation_p.R588K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	588					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)			AACCAGGAGAGGACCTCCTAC	0.438000													61	38					0	0	0.003610	0	0
DOCK5	80005	broad.mit.edu	37	8	25240208	25240208	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:25240208T>C	ENST00000276440.7	+	40	4089	c.4045T>C	c.(4045-4047)Tat>Cat	p.Y1349H		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1349	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGCCTCATTTTATGAGAACAT	0.403000													7	13					0	0	0.001984	0	0
CCDC60	160777	broad.mit.edu	37	12	119909830	119909830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:119909830G>A	ENST00000327554.2	+	3	667	c.202G>A	c.(202-204)Gga>Aga	p.G68R	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	68										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GATAGGCCGTGGATATTTTGC	0.468000													45	71					0	0	0.003610	0	0
MEGF8	1954	broad.mit.edu	37	19	42862990	42862990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:42862990C>T	ENST00000334370.4	+	29	5661	c.5026C>T	c.(5026-5028)Cct>Tct	p.P1676S	MEGF8_ENST00000251268.6_Missense_Mutation_p.P1743S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1743						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGCCAAGTTCCTGGGGAGCA	0.597000													4	14					0	0	0.000602	0	0
CLIC2	1193	broad.mit.edu	37	X	154508605	154508605	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:154508605G>A	ENST00000369449.2	-	5	633	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	139	C-terminal.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTTTGAGCAGAGATTTTTCA	0.373000													26	17					0	0	0.001786	0	0
LGR5	8549	broad.mit.edu	37	12	71898457	71898457	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:71898457G>A	ENST00000266674.5	+	2	587	c.276G>A	c.(274-276)ctG>ctA	p.L92L	LGR5_ENST00000536515.1_Silent_p.L92L|LGR5_ENST00000540815.2_Silent_p.L92L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	92						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCGCTTCCTGGAGGAGTTGT	0.498000													50	86					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25336868	25336868	+	RNA	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:25336868T>C	ENST00000546682.1	+	0	969				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						ATCCCACAGGTTGGTAAATGT	0.493000													8	18					0	0	0.003080	0	0
SFTPA2	729238	broad.mit.edu	37	10	81319087	81319087	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:81319087T>A	ENST00000372325.2	-	3	237	c.153A>T	c.(151-153)aaA>aaT	p.K51N	SFTPA2_ENST00000372327.5_Missense_Mutation_p.K51N	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	51	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CAGGGTCTCCTTTGACACCAT	0.632000									Pulmonary Fibrosis, Idiopathic				9	83					0	0	0.000443	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389905	150389905	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:150389905G>A	ENST00000223293.5	+	3	625	c.531G>A	c.(529-531)ggG>ggA	p.G177G		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	177						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGTGGTGGGCGAATCTGTG	0.473000													27	40					0	0	0.001061	0	0
ASAP1	50807	broad.mit.edu	37	8	131104224	131104224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:131104224G>A	ENST00000357668.1	-	24	2594	c.2567C>T	c.(2566-2568)cCt>cTt	p.P856L	ASAP1_ENST00000518721.1_Missense_Mutation_p.P856L			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	856	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTTACCCCAAGGAACTGCGCC	0.597000													38	104					0	0	0.001706	0	0
TDRD1	56165	broad.mit.edu	37	10	115962926	115962926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:115962926G>A	ENST00000251864.2	+	7	945	c.792G>A	c.(790-792)atG>atA	p.M264I	TDRD1_ENST00000369282.1_Missense_Mutation_p.M264I|TDRD1_ENST00000369280.1_Missense_Mutation_p.M264I|TDRD1_ENST00000369281.2_Missense_Mutation_p.M264I|TDRD1_ENST00000422662.1_5'UTR	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	264					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)		AGAAAACCATGGAAATAAAGG	0.368000													5	18					0	0	0.000602	0	0
CRYZL1	9946	broad.mit.edu	37	21	34994338	34994338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:34994338G>A	ENST00000361534.2	-	5	392	c.253C>T	c.(253-255)Cct>Tct	p.P85S	AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000413017.2_Missense_Mutation_p.P61S|CRYZL1_ENST00000381540.3_Missense_Mutation_p.P61S|CRYZL1_ENST00000381554.3_Missense_Mutation_p.P61S|CRYZL1_ENST00000445393.1_Missense_Mutation_p.P61S|CRYZL1_ENST00000290244.5_Missense_Mutation_p.P61S			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	61					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CTCCCAACAGGAAATAAATCC	0.313000													32	104					0	0	0.001706	0	0
HEPH	9843	broad.mit.edu	37	X	65480098	65480098	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:65480098C>T	ENST00000519389.1	+	19	3534	c.3355C>T	c.(3355-3357)Cga>Tga	p.R1119*	HEPH_ENST00000336279.5_Nonsense_Mutation_p.R798*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.R1068*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R1068*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.R1065*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.R876*			Q9BQS7	HEPH_HUMAN	hephaestin	1065					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGTTTTTTCTCGAACAGGTAA	0.468000													3	2					0	0	0.000248	0	0
FLG	2312	broad.mit.edu	37	1	152282941	152282941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:152282941C>T	ENST00000368799.1	-	3	4456	c.4421G>A	c.(4420-4422)cGa>cAa	p.R1474Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1474	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)			AGAGCTGTTTCGTGCCTGCTC	0.577000									Ichthyosis				74	209					0	0	0.003610	0	0
BVES	11149	broad.mit.edu	37	6	105564670	105564670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:105564670G>A	ENST00000314641.5	-	6	938	c.722C>T	c.(721-723)tCa>tTa	p.S241L	BVES_ENST00000336775.5_Missense_Mutation_p.S241L|BVES_ENST00000446408.2_Missense_Mutation_p.S241L	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	241					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GAAAGGTTCTGATTCCAGAAA	0.338000													13	42					0	0	0.001855	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926593	157926593	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:157926593C>T	ENST00000389413.3	-	9	1435	c.1332G>A	c.(1330-1332)gtG>gtA	p.V444V	PTPRN2_ENST00000409483.1_Silent_p.V406V|PTPRN2_ENST00000389416.4_Silent_p.V427V|PTPRN2_ENST00000389418.4_Silent_p.V444V|PTPRN2_ENST00000404321.2_Silent_p.V467V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	444						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)		TGACGTTCTCCACTCCGGCAG	0.602000													28	73					0	0	0.002096	0	0
SRPK1	6732	broad.mit.edu	37	6	35806524	35806524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:35806524G>A	ENST00000373822.1	-	15	1861	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	SRPK1_ENST00000373825.2_Intron|SRPK1_ENST00000423325.2_Intron			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	581	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						CCCACTGAGGGAAAAGCGTCT	0.418000													75	106					0	0	0.003610	0	0
ZNF608	57507	broad.mit.edu	37	5	123980094	123980094	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:123980094C>G	ENST00000306315.5	-	5	4401	c.3966G>C	c.(3964-3966)tgG>tgC	p.W1322C	ZNF608_ENST00000504926.1_Missense_Mutation_p.W895C	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1322						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GAGAGTCCTTCCAGTTCACAG	0.473000													23	117					0	0	0.002780	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877316	24877316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:24877316C>T	ENST00000382554.3	+	3	758	c.440C>T	c.(439-441)cCt>cTt	p.P147L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	147					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGCCCTGCCCCTCTGCTGACC	0.677000													6	18					0	0	0.001168	0	0
KIF6	221458	broad.mit.edu	37	6	39513388	39513388	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:39513388T>C	ENST00000287152.7	-	11	1352	c.1258A>G	c.(1258-1260)Aaa>Gaa	p.K420E	KIF6_ENST00000373213.4_Missense_Mutation_p.K259E|KIF6_ENST00000538893.1_Missense_Mutation_p.K420E|KIF6_ENST00000373215.3_Missense_Mutation_p.K420E|KIF6_ENST00000373216.3_Missense_Mutation_p.K420E	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	420					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						TGATGAACTTTACGCATATCC	0.348000													29	30					0	0	0.003755	0	0
ADAM32	203102	broad.mit.edu	37	8	39027493	39027493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:39027493C>T	ENST00000379907.4	+	10	1019	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	ADAM32_ENST00000437682.2_Missense_Mutation_p.R305C|ADAM32_ENST00000519315.1_Missense_Mutation_p.R298C	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	298	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R297S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GTGTATTACTCGTTATTCTGC	0.254000													12	42					0	0	0.006122	0	0
TNC	3371	broad.mit.edu	37	9	117808887	117808887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:117808887C>T	ENST00000350763.4	-	17	5338	c.4927G>A	c.(4927-4929)Gat>Aat	p.D1643N	TNC_ENST00000535648.1_Missense_Mutation_p.D1188N|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.D1461N|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Missense_Mutation_p.D1097N|TNC_ENST00000423613.2_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.D1279N|TNC_ENST00000542877.1_Missense_Mutation_p.D1280N	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1643	Fibronectin type-III 12.				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						ACCCCTTCATCAGCTGTCCAG	0.502000													28	22					0	0	0.001271	0	0
RPH3A	22895	broad.mit.edu	37	12	113314635	113314635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:113314635G>A	ENST00000389385.4	+	13	1632	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	RPH3A_ENST00000551052.1_Missense_Mutation_p.E375K|RPH3A_ENST00000548866.1_Missense_Mutation_p.E330K|RPH3A_ENST00000543106.2_Missense_Mutation_p.E379K|RPH3A_ENST00000447659.2_Missense_Mutation_p.E330K|RPH3A_ENST00000415485.3_Missense_Mutation_p.E379K|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.E379K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	379					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGAGGAGGAGGAAGAGGAAGC	0.587000													18	27					0	0	0.002780	0	0
TRIOBP	11078	broad.mit.edu	37	22	38153678	38153678	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr22:38153678C>T	ENST00000406386.3	+	16	6001	c.5746C>T	c.(5746-5748)Ctg>Ttg	p.L1916L	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Silent_p.L203L|TRIOBP_ENST00000403663.2_Silent_p.L203L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1916					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAAGGGCCCCCTGAAGGCAGG	0.672000													5	1					0	0	0.001168	0	0
C7	730	broad.mit.edu	37	5	40934532	40934532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr5:40934532G>A	ENST00000313164.9	+	4	603	c.244G>A	c.(244-246)Gag>Aag	p.E82K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	82					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATGTCCAACAGAGGAGGGATG	0.468000													7	54					0	0	0.003080	0	0
CFAP54	144535	broad.mit.edu	37	12	97078890	97078890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:97078890C>T	ENST00000524981.3	+	9	1241	c.1241C>T	c.(1240-1242)cCc>cTc	p.P414L				Q6ZTY8	CL063_HUMAN		388										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GAATTTGGCCCCTCACTCACC	0.463000													4	37					0	0	0.000248	0	0
CHPF2	54480	broad.mit.edu	37	7	150932643	150932643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:150932643G>A	ENST00000035307.2	+	2	2286	c.773G>A	c.(772-774)tGg>tAg	p.W258*	CHPF2_ENST00000495645.1_Nonsense_Mutation_p.W250*	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	258						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCTGACGAGTGGCTTGGACGC	0.592000													34	60					0	0	0.002836	0	0
OR4N2	390429	broad.mit.edu	37	14	20295822	20295822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20295822C>T	ENST00000315947.1	+	1	215	c.215C>T	c.(214-216)tCc>tTc	p.S72F	OR4N2_ENST00000568211.1_Missense_Mutation_p.S72F	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGATGCATCCTACTCCTTC	0.493000													8	54					0	0	0.003163	0	0
ROBO1	6091	broad.mit.edu	37	3	78696802	78696802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:78696802G>A	ENST00000436010.2	-	18	3696	c.2699C>T	c.(2698-2700)cCg>cTg	p.P900L	ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.P939L			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	939					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)		GGTAAAAGACGGGACTGAAAA	0.343000													53	99					0	0	0.003610	0	0
REPS1	85021	broad.mit.edu	37	6	139266400	139266400	+	Missense_Mutation	SNP	G	G	A	rs142283202		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:139266400G>A	ENST00000450536.2	-	4	1158	c.584C>T	c.(583-585)gCg>gTg	p.A195V	REPS1_ENST00000367663.4_Missense_Mutation_p.A195V|REPS1_ENST00000415951.2_Missense_Mutation_p.A195V|REPS1_ENST00000258062.5_Missense_Mutation_p.A195V|REPS1_ENST00000409812.2_Missense_Mutation_p.A195V			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	195						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CCCAGGTCCCGCGAGAGGCCT	0.527000													5	12					0	0	0.001168	0	0
TRPM1	4308	broad.mit.edu	37	15	31294290	31294290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:31294290G>A	ENST00000542188.1	-	27	4977	c.4664C>T	c.(4663-4665)cCt>cTt	p.P1555L	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.P1538L|TRPM1_ENST00000397795.2_Missense_Mutation_p.P1516L	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1516					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGGGATTCGAGGAATTGCTTC	0.453000													66	185					0	0	0.003610	0	0
PSG9	5678	broad.mit.edu	37	19	43773535	43773535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:43773535C>T	ENST00000244293.7	-	1	115	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PSG9_ENST00000291752.5_Missense_Mutation_p.G17R|PSG9_ENST00000593948.1_Missense_Mutation_p.G17R|PSG9_ENST00000270077.3_Missense_Mutation_p.G17R|PSG9_ENST00000443718.3_Missense_Mutation_p.G17R|PSG9_ENST00000418820.2_Missense_Mutation_p.G17R|PSG9_ENST00000596730.1_Missense_Mutation_p.G17R			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	17					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)				AGCAGGAGCCCCTTCCAGGTG	0.607000													34	64					0	0	0.002852	0	0
HSF2	3298	broad.mit.edu	37	6	122733790	122733790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:122733790C>T	ENST00000452194.1	+	3	398	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	HSF2_ENST00000368455.4_Missense_Mutation_p.R71C	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	71					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		AGATGGTTTCCGTAAAGTAGT	0.343000													12	27					0	0	0.001368	0	0
SLX4	84464	broad.mit.edu	37	16	3640461	3640461	+	Missense_Mutation	SNP	G	G	A	rs144273492	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:3640461G>A	ENST00000294008.3	-	12	3818	c.3178C>T	c.(3178-3180)Cgg>Tgg	p.R1060W		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1060	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.R1060W(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCACGGGACCGGGGTGTTGAC	0.637000								Direct reversal of damage					46	85					0	0	0.003610	0	0
KIAA0754	643314	broad.mit.edu	37	1	39880101	39880101	+	Silent	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:39880101A>G	ENST00000530275.1	+	1	3951	c.3756A>G	c.(3754-3756)ctA>ctG	p.L1252L	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1252										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCACAGTGCTACATGGGAAAG	0.458000													18	39					0	0	0.000958	0	0
TTN	7273	broad.mit.edu	37	2	179599464	179599464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:179599464C>T	ENST00000589042.1	-	51	15411	c.15187G>A	c.(15187-15189)Gat>Aat	p.D5063N	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D4746N|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D3819N|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4746	Ig-like 31.						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)			CTGCAGCTATCACTGCCGACG	0.353000													20	51					0	0	0.003954	0	0
DOPEY1	23033	broad.mit.edu	37	6	83846981	83846981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:83846981C>T	ENST00000349129.2	+	21	3480	c.3220C>T	c.(3220-3222)Cca>Tca	p.P1074S	DOPEY1_ENST00000237163.5_Missense_Mutation_p.P1055S|DOPEY1_ENST00000369739.3_Missense_Mutation_p.P1065S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1074					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CACTGTGAATCCATTAAGTGA	0.388000													5	16					0	0	0.000602	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146513	70146513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr4:70146513G>A	ENST00000335568.5	+	1	297	c.295G>A	c.(295-297)Gac>Aac	p.D99N	UGT2B28_ENST00000511240.1_Missense_Mutation_p.D99N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	99					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)	GAGATGGTCAGACATTCAAAA	0.323000													9	17					0	0	0.004482	0	0
KIAA0895	23366	broad.mit.edu	37	7	36370647	36370647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:36370647G>A	ENST00000317020.6	-	5	1495	c.1195C>T	c.(1195-1197)Caa>Taa	p.Q399*	KIAA0895_ENST00000440378.1_Nonsense_Mutation_p.Q447*|KIAA0895_ENST00000453212.1_Nonsense_Mutation_p.Q205*|KIAA0895_ENST00000436884.1_Nonsense_Mutation_p.Q347*|KIAA0895_ENST00000338533.5_Nonsense_Mutation_p.Q437*|KIAA0895_ENST00000297063.6_Nonsense_Mutation_p.Q450*	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	450										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGGAGGATTTGAAGAATTCCA	0.428000													26	75					0	0	0.001512	0	0
OR4N4	283694	broad.mit.edu	37	15	22382955	22382955	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr15:22382955C>T	ENST00000328795.4	+	1	574	c.483C>T	c.(481-483)gtC>gtT	p.V161V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCCAGGTGGTCCTCATCCTCC	0.527000													19	37					0	0	0.002299	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134375	119134375	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:119134375T>C	ENST00000264245.4	+	12	4131	c.3599T>C	c.(3598-3600)gTc>gCc	p.V1200A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1200					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCAGGGCGGTCCCAGTCATC	0.582000													23	30					0	0	0.003330	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256408	15256408	+	Silent	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr10:15256408C>T	ENST00000378116.4	-	8	1185	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	393						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTCCACTCATCAGTTCCTTCG	0.602000													12	33					0	0	0.001855	0	0
EPHA10	284656	broad.mit.edu	37	1	38227056	38227056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:38227056G>A	ENST00000319637.6	-	3	937	c.871C>T	c.(871-873)Cgt>Tgt	p.R291C	EPHA10_ENST00000373048.4_Intron|EPHA10_ENST00000427468.2_Intron	NM_173641.2	NP_775912.2	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	0						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCACCCCACGGCCCCCAGCC	0.662000													32	85					0	0	0.005524	0	0
MGRN1	23295	broad.mit.edu	37	16	4723511	4723511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:4723511G>A	ENST00000399577.5	+	10	901	c.808G>A	c.(808-810)Gag>Aag	p.E270K	MGRN1_ENST00000415496.1_Missense_Mutation_p.E271K|MGRN1_ENST00000588994.1_Missense_Mutation_p.E270K|MGRN1_ENST00000586183.1_Missense_Mutation_p.E270K|MGRN1_ENST00000588015.1_3'UTR|MGRN1_ENST00000262370.7_Missense_Mutation_p.E270K	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	270					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTCGGACGACGAGAACAGCGA	0.657000													64	172					0	0	0.003610	0	0
GPR112	139378	broad.mit.edu	37	X	135430934	135430934	+	Missense_Mutation	SNP	C	C	T	rs141778568	byFrequency	TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chrX:135430934C>T	ENST00000394143.1	+	6	5360	c.5069C>T	c.(5068-5070)tCc>tTc	p.S1690F	GPR112_ENST00000394141.1_Missense_Mutation_p.S1485F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1627F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1690F|GPR112_ENST00000412101.1_Missense_Mutation_p.S1485F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1690					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1690F(1)		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)					GCTATTTCCTCCATTCCAAAG	0.448000													14	10					0	0	0.002450	0	0
NLRP7	199713	broad.mit.edu	37	19	55451188	55451188	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr19:55451188G>A	ENST00000446217.1	-	6	1485	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	NLRP7_ENST00000328092.5_Silent_p.F333F|NLRP7_ENST00000448121.2_Silent_p.F333F|NLRP7_ENST00000592784.1_Silent_p.F333F|NLRP7_ENST00000340844.2_Silent_p.F333F|NLRP7_ENST00000590030.1_Silent_p.F333F|NLRP7_ENST00000588756.1_Silent_p.F333F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	333	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)		AGTGTCTCAGGAAATAGGCCC	0.647000													12	21					0	0	0.003163	0	0
RNASEL	6041	broad.mit.edu	37	1	182555534	182555534	+	Silent	SNP	A	A	G			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:182555534A>G	ENST00000367559.3	-	2	661	c.408T>C	c.(406-408)ggT>ggC	p.G136G	RNASEL_ENST00000539397.1_Silent_p.G136G|RNASEL_ENST00000444138.1_Silent_p.G136G	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	136					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CTTTGACCTTACCATACACAG	0.458000													27	33					0	0	0.001512	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420444	56420444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:56420444C>T	ENST00000407595.2	+	2	1611	c.1109C>T	c.(1108-1110)cCt>cTt	p.P370L	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	370	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGAGGGAGCCCTGATCACAAA	0.637000													6	8					0	0	0.001168	0	0
ACVR1C	130399	broad.mit.edu	37	2	158443818	158443818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:158443818G>A	ENST00000243349.7	-	2	545	c.185C>T	c.(184-186)tCc>tTc	p.S62F	ACVR1C_ENST00000409680.3_Missense_Mutation_p.S12F|ACVR1C_ENST00000348328.5_Missense_Mutation_p.S62F|ACVR1C_ENST00000335450.7_Missense_Mutation_p.S62F	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	62					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GGAGACACAGGATTTGATCAC	0.418000													50	68					0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41559876	41559876	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr21:41559876G>A	ENST00000400454.1	-	13	3069	c.2592C>T	c.(2590-2592)tcC>tcT	p.S864S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	864	Ig-like C2-type 9.				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)				TAGCATGGCAGGAAAAGAAAC	0.388000													10	34					0	0	0.000978	0	0
OR6C68	403284	broad.mit.edu	37	12	55886345	55886345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:55886345C>T	ENST00000379662.1	+	1	199	c.199C>T	c.(199-201)Caa>Taa	p.Q67*	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|OR6C68_ENST00000548615.1_Nonsense_Mutation_p.Q62*|RP11-110A12.2_ENST00000556750.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	62					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						TTTTTTTCTCCAAAATTTATC	0.363000													17	79					0	0	0.006122	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110408291	110408291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:110408291C>T	ENST00000378402.5	+	11	951	c.847C>T	c.(847-849)Cga>Tga	p.R283*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	283	IPT/TIG 3.				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)			AGGAAGCATTCGAGGTGGCAC	0.388000										HNSCC(38;0.096)			3	7					0	0	0.000602	0	0
KCNB2	9312	broad.mit.edu	37	8	73480509	73480509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr8:73480509G>A	ENST00000523207.1	+	2	1128	c.540G>A	c.(538-540)tgG>tgA	p.W180*		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	180					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)			AGAAACTGTGGGACTTGCTGG	0.458000													7	127					0	0	0.003080	0	0
C12orf50	160419	broad.mit.edu	37	12	88383123	88383123	+	Silent	SNP	C	C	T	rs146612959		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:88383123C>T	ENST00000298699.2	-	8	798	c.618G>A	c.(616-618)agG>agA	p.R206R	C12orf50_ENST00000550553.1_Silent_p.R206R	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	206										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GAAATATGACCCTCTGTGGAA	0.343000													10	18					0	0	0.000443	0	0
TUBA1B	10376	broad.mit.edu	37	12	49521749	49521749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr12:49521749C>T	ENST00000336023.5	-	4	1442	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	450					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						AATTAGTATTCCTCTCCTTCT	0.463000													54	54					0	0	0.003610	0	0
CCDC108	255101	broad.mit.edu	37	2	219888010	219888010	+	Silent	SNP	G	G	A	rs144661790		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:219888010G>A	ENST00000341552.5	-	16	2822	c.2739C>T	c.(2737-2739)ttC>ttT	p.F913F	CCDC108_ENST00000453220.1_Silent_p.F913F|CCDC108_ENST00000441968.1_Silent_p.F913F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	913	MSP.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCCACTCGAACTGCAGGG	0.627000													20	21					0	0	0.003330	0	0
HECW1	23072	broad.mit.edu	37	7	43547680	43547680	+	Silent	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:43547680G>A	ENST00000395891.1	+	23	4421	c.3816G>A	c.(3814-3816)cgG>cgA	p.R1272R	HECW1_ENST00000453890.1_Silent_p.R1238R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1272	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCTATTCGCGGAAAGAGCTCC	0.542000													17	29					0	0	0.001523	0	0
KIFC1	3833	broad.mit.edu	37	6	33365810	33365810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:33365810C>T	ENST00000428849.2	+	2	467	c.17C>T	c.(16-18)tCc>tTc	p.S6F		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	6					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CAACAGAGGTCCCCCCTATTG	0.522000													36	57					0	0	0.001485	0	0
PTPRC	5788	broad.mit.edu	37	1	198685930	198685930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:198685930G>A	ENST00000367376.2	+	13	1576	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	PTPRC_ENST00000442510.2_Missense_Mutation_p.G471R|PTPRC_ENST00000594404.1_Missense_Mutation_p.G308R|PTPRC_ENST00000352140.3_Missense_Mutation_p.G421R|PTPRC_ENST00000348564.6_Missense_Mutation_p.G310R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	469	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCAACGTAATGGAAGTGCTGC	0.303000													17	70					0	0	0.001523	0	0
RPL5	6125	broad.mit.edu	37	1	93301759	93301759	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:93301759delT	ENST00000370321.3	+	5	427	c.337delT	c.(337-339)ttfs	p.F113fs		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	113					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TCTCAATAGGTTTGGCATGGA	0.398													80	158	---	---	---	---					
VCAM1	7412	broad.mit.edu	37	1	101198228	101198228	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr1:101198228delT	ENST00000294728.2	+	7	1881	c.1780delT	c.(1780-1782)tafs	p.L594fs	VCAM1_ENST00000370119.4_Frame_Shift_Del_p.L532fs|VCAM1_ENST00000347652.2_Frame_Shift_Del_p.L502fs|VCAM1_ENST00000370115.1_Frame_Shift_Del_p.L395fs	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	594	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGAAGTGGAATTAATTATCCA	0.343													17	34	---	---	---	---					
TET3	200424	broad.mit.edu	37	2	74327570	74327570	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:74327570delA	ENST00000409262.3	+	9	3250	c.3250delA	c.(3250-3252)agfs	p.K1084fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1084							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(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCTCCCTCAAGGTGGAGCC	0.612													2	4	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168103439	168103440	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:168103439_168103440insT	ENST00000409195.1	+	9	5626_5627	c.5537_5538insT	c.(5536-5538)atcfs	p.I1846fs	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.I1624fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.I1846fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1671					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						TCAACCCTAAATTCCCTCAGCC	0.381													7	19	---	---	---	---					
PARD3B	117583	broad.mit.edu	37	2	205989120	205989130	+	Frame_Shift_Del	DEL	TAAAAAACATT	TAAAAAACATT	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr2:205989120_205989130delTAAAAAACATT	ENST00000406610.2	+	9	1442_1452	c.1235_1245delTAAAAAACATT	c.(1234-1245)gfs	p.VKNI412fs	PARD3B_ENST00000358768.2_Frame_Shift_Del_p.VKNI412fs|PARD3B_ENST00000349953.3_Frame_Shift_Del_p.VKNI412fs|PARD3B_ENST00000351153.1_Frame_Shift_Del_p.VKNI412fs|PARD3B_ENST00000462231.1_Frame_Shift_Del_p.VKNI412fs	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	412	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCCATTTTTGTAAAAAACATTTTACCAAAGG	0.393													10	93	---	---	---	---					
RRP9	9136	broad.mit.edu	37	3	51968772	51968772	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:51968772delA	ENST00000232888.6	-	12	1128	c.1055delT	c.(1054-1056)ccfs	p.L352fs		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	352					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CTTCTTGGAGAGACCCCACAA	0.592													23	59	---	---	---	---					
DVL3	1857	broad.mit.edu	37	3	183883252	183883252	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr3:183883252delA	ENST00000313143.3	+	7	984	c.736delA	c.(736-738)acfs	p.N246fs	DVL3_ENST00000431765.1_Frame_Shift_Del_p.N246fs|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	246					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)			CATGTCACTCAACATCATCAC	0.542													18	38	---	---	---	---					
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31708367	31708369	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr6:31708367_31708369delGAG	ENST00000493662.2	+	2	180_182	c.124_126delGAG	c.(124-126)del	p.E46del	MSH5_ENST00000375750.3_In_Frame_Del_p.E46del|MSH5_ENST00000375755.3_In_Frame_Del_p.E46del|MSH5_ENST00000375703.3_In_Frame_Del_p.E46del|MSH5_ENST00000534153.4_In_Frame_Del_p.E46del|MSH5_ENST00000375740.3_In_Frame_Del_p.E46del|MSH5_ENST00000375742.3_In_Frame_Del_p.E46del|MSH5_ENST00000482280.1_3'UTR																							ggaggaagtcgaggaggaggagg	0.655													2	4	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97822735	97822736	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr7:97822735_97822736insT	ENST00000297293.5	+	11	3251_3252	c.2958_2959insT	c.(2956-2961)cctcccfs	p.P987fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	987					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)					TGTCAGCACCCTTCCCAGCCTC	0.564													56	136	---	---	---	---					
SHB	6461	broad.mit.edu	37	9	38068598	38068599	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr9:38068598_38068599insT	ENST00000377707.3	-	1	609_610	c.44_45insA	c.(43-45)aacfs	p.N15fs	RP11-613M10.9_ENST00000540557.1_Frame_Shift_Ins_p.N15fs|SHB_ENST00000377700.4_Frame_Shift_Ins_p.N15fs	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	15	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GGCTCTTGGTCTTGCTGTTGCC	0.738													8	17	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138376	20138376	+	RNA	DEL	G	G	-	rs57620493		TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr14:20138376delG	ENST00000548261.1	+	0	391																											ACAaaagaaagaaagaaagaa	0.388													3	4	---	---	---	---					
KNOP1	400506	broad.mit.edu	37	16	19725706	19725706	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr16:19725706delT	ENST00000219837.7	-	2	730	c.652delA	c.(652-654)tcfs	p.I218fs	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1									p.I218fs*41(1)									TCCTGGTGGATTTTTTTTTTC	0.532													10	108	---	---	---	---					
MYO19	80179	broad.mit.edu	37	17	34864909	34864909	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:34864909delG	ENST00000431794.3	-	14	1745	c.1223delC	c.(1222-1224)atfs	p.T408fs	MYO19_ENST00000268852.9_Frame_Shift_Del_p.T408fs	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	408	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACCTATGAAAGTGGTCCACGA	0.542													8	18	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67092380	67092381	+	Splice_Site	INS	-	-	A			TCGA-EE-A2GI-06A-11D-A196-08	TCGA-EE-A2GI-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f703f7-1db7-40b8-ad2d-e34275075314	2bdd457b-f872-4c5f-997d-1db7d15dfe68	g.chr17:67092380_67092381insA	ENST00000284425.2	-	25	3582_3583		c.e25+1		ABCA6_ENST00000446604.2_Splice_Site	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6						transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TATATACTTACAAAAAAGAAGT	0.282													17	31	---	---	---	---					
