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
CPE	1363	broad.mit.edu	37	4	166405633	166405633	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:166405633G>A	uc003irg.4	+	4	1127	c.850G>A	c.(850-852)Gca>Aca	p.A284T		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	284					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	p.A284T(2)|p.R283L(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTGGCCCGGGCATACTCTTC	0.498000													5	417					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17622555	17622555	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:17622555T>A	uc002wpw.1	-	4	1049	c.772A>T	c.(772-774)Aag>Tag	p.K258*	RRBP1_uc002wpu.3_Nonsense_Mutation_p.K32*|RRBP1_uc010gcl.1_Nonsense_Mutation_p.K32*|RRBP1_uc002wpv.1_Nonsense_Mutation_p.K258*	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	691	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	p.K258*(2)|p.K691*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGGTCACCCTTCTGAGTGGCC	0.557000													10	192					0	0	1	0	0
TAL2	6887	broad.mit.edu	37	9	108424812	108424812	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:108424812G>C	uc004bct.3	+	0	75	c.35G>C	c.(34-36)cGg>cCg	p.R12P		NM_005421	NP_005412	Q16559	TAL2_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 2 (TAL2), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R12P(1)									ACCAGGGAGCGGTGGAGGCAG	0.502000			T	TRB@	T-ALL								13	63					0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72370579	72370579	+	Silent	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:72370579G>T	uc003kcl.3	+	19	1706	c.1590G>T	c.(1588-1590)cgG>cgT	p.R530R	FCHO2_uc011csl.2_Silent_p.R497R|FCHO2_uc010izb.3_5'UTR|FCHO2_uc011csn.2_5'UTR	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	530								p.R530R(3)|p.R530W(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTGTGTCACGGGGTCCCAGCC	0.408000													3	37					0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242794944	242794944	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:242794944G>T	uc002wcq.4	-	1	333	c.265C>A	c.(265-267)Ccc>Acc	p.P89T	PDCD1_uc010fzs.3_Missense_Mutation_p.P20T|PDCD1_uc010fzt.3_Intron	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	89	Ig-like V-type.				T cell costimulation|apoptosis|humoral immune response|multicellular organismal development	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	p.P89T(6)		endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		TCCTGGCCGGGCTGGCTGCGG	0.642000													8	41					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114483187	114483187	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:114483187A>G	uc001eem.3	+	1	343	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HIPK1_uc001eel.3_Missense_Mutation_p.Q61R|HIPK1_uc001een.3_Missense_Mutation_p.Q61R	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.Q61R(4)|p.H60N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCTCACCAGGTAGCAAAT	0.537000													15	227					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134942117	134942117	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr10:134942117C>T	uc001llw.3	+	15	2942	c.2942C>T	c.(2941-2943)aCg>aTg	p.T981M	GPR123_uc001llx.4_Missense_Mutation_p.T262M			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	262						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T262M(1)|p.T981M(1)		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)		GCCGCCTTCACGCTGTTCCTG	0.692000													5	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179580256	179580256	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:179580256C>T	uc021vsy.1	-	85	22378	c.22153G>A	c.(22153-22155)Ggc>Agc	p.G7385S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4046S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8312	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G7385S(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)			CTGGCACTGCCTGCTGCATTG	0.478000													12	85					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31663865	31663865	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr22:31663865G>C	uc003akh.3	+	9	1377	c.1232G>C	c.(1231-1233)gGc>gCc	p.G411A	LIMK2_uc003aki.3_Missense_Mutation_p.G165A|LIMK2_uc003akj.3_Missense_Mutation_p.G390A|LIMK2_uc003akk.3_Missense_Mutation_p.G390A|LIMK2_uc011aln.2_Missense_Mutation_p.G328A	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	411	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	p.G411A(3)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ATTGAGGGGGGCACACTGAAG	0.527000													6	113					0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582179	180582179	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:180582179G>A	uc011dhj.2	+	0	237	c.237G>A	c.(235-237)gtG>gtA	p.V79V		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V79V(2)		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)			GTACCAATGTGCCAAAGATGG	0.517000													14	245					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4791052	4791052	+	Silent	SNP	A	A	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:4791052A>T	uc010qyl.2	-	0	96	c.96T>A	c.(94-96)ccT>ccA	p.P32P		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	32						integral to membrane	olfactory receptor activity	p.P32P(2)		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)		AACAACAGAAAGGAATGGAGA	0.453000													11	41					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413230	105413230	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr14:105413230T>G	uc010axc.1	-	6	8678	c.8558A>C	c.(8557-8559)cAa>cCa	p.Q2853P	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.Q2753P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2853						nucleus		p.Q2853P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAGATCCCCTTGCATGGAGGG	0.622000													19	230					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179121	65179121	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr18:65179121A>G	uc002lke.1	-	1	3979	c.2755T>C	c.(2755-2757)Tca>Cca	p.S919P	DSEL_uc021ulg.1_Missense_Mutation_p.S919P	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	909						integral to membrane	isomerase activity|sulfotransferase activity	p.S919P(2)		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)				CGGATATCTGACACCTTCCAT	0.423000													5	138					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614412	247614412	+	Silent	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:247614412G>T	uc010pyx.2	-	0	873	c.873C>A	c.(871-873)ccC>ccA	p.P291P		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P291P(4)		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)			TGTAGGTGAAGGGATTGAGAG	0.488000													6	423					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397388	5397388	+	Missense_Mutation	SNP	G	G	A	rs143141379		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr18:5397388G>A	uc002kmt.1	-	17	2596	c.2510C>T	c.(2509-2511)aCg>aTg	p.T837M	EPB41L3_uc010wzh.1_Missense_Mutation_p.T668M|EPB41L3_uc002kmu.1_Missense_Mutation_p.T615M|EPB41L3_uc010dkq.1_Missense_Mutation_p.T506M|EPB41L3_uc002kms.1_Missense_Mutation_p.T72M|EPB41L3_uc010wze.1_Missense_Mutation_p.T142M|EPB41L3_uc010wzf.1_Missense_Mutation_p.T134M|EPB41L3_uc010wzg.1_Missense_Mutation_p.T109M|EPB41L3_uc010dkr.2_Missense_Mutation_p.T229M	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	837	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.T837M(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGTGGGTTCCGTCTCTATTCC	0.542000													5	62					0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7061281	7061281	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:7061281C>T	uc001qsb.2	+	2	509	c.267C>T	c.(265-267)cgC>cgT	p.R89R	PTPN6_uc001qsa.1_Silent_p.R91R|PTPN6_uc010sfr.1_Silent_p.R50R|PTPN6_uc009zfl.1_Silent_p.R89R|PTPN6_uc010sfs.1_Silent_p.R77R	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	89	SH2 1.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	p.R89R(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TGCAGGACCGCGACGGCACCA	0.587000													12	132					0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151545615	151545615	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:151545615C>T	uc003eze.3	+	4	945	c.855C>T	c.(853-855)tcC>tcT	p.S285S		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	285					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	p.S285S(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATTGGAGTTCCCTGCTCCCTG	0.383000													9	200					0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65751577	65751577	+	Missense_Mutation	SNP	G	G	A	rs142506783		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:65751577G>A	uc003tuw.3	+	2	1277	c.925G>A	c.(925-927)Gat>Aat	p.D309N	TPST1_uc010kzy.2_Non-coding_Transcript	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	309					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	p.D309N(2)		NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GATACCGCCAGATGTTTTACA	0.428000													9	106					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628979	71628979	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:71628979G>A	uc004agy.3	-	0	61	c.30C>T	c.(28-30)acC>acT	p.T10T		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	10					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	p.T10T(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCTCCTGCTCGGTGTCCTTCT	0.692000													5	44					0	0	1	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591153	56591153	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chrX:56591153G>A	uc004dus.3	+	0	1128	c.847G>A	c.(847-849)Gca>Aca	p.A283T	UBQLN2_uc011moq.1_Missense_Mutation_p.A283T	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	Homo sapiens ubiquilin 2 (UBQLN2), mRNA.	283						cytoplasm|nucleus|plasma membrane	binding	p.A283T(3)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GCTGAATGCCGCACAAGAGCA	0.517000													3	39					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102047576	102047576	+	Silent	SNP	C	C	T	rs145910377	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr13:102047576C>T	uc001vox.1	-	2	438	c.249G>A	c.(247-249)acG>acA	p.T83T	NALCN_uc001voy.3_5'UTR|NALCN_uc001voz.2_Silent_p.T83T|NALCN_uc001vpa.2_Silent_p.T83T	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	83						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.T83T(4)|p.T83M(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCATCTCTGCCGTGTAGAGAA	0.403000													18	95					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335248	20335248	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr16:20335248C>A	uc002dgv.3	-	2	508	c.425G>T	c.(424-426)aGt>aTt	p.S142I	GP2_uc002dgw.3_Missense_Mutation_p.S142I|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	142						anchored to membrane|extracellular region|plasma membrane		p.S142I(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCAGTTGCCACTCCAATGGGC	0.592000													3	83					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116729309	116729309	+	Missense_Mutation	SNP	T	T	C	rs141671439	by1000genomes	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:116729309T>C	uc001ppy.3	-	19	2590	c.2554A>G	c.(2554-2556)Aca>Gca	p.T852A	SIK3_uc001ppz.3_Intron|SIK3_uc001pqa.3_Intron|SIK3_uc001ppw.3_Intron|SIK3_uc001ppx.3_Intron|SIK3_uc001pqb.3_Missense_Mutation_p.T155A	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	852	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.T958A(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CCCACTCCTGTTGAAGGGCTG	0.582000													45	133					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135801246	135801246	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:135801246C>T	uc003eqv.2	+	7	3388	c.2771C>T	c.(2770-2772)tCt>tTt	p.S924F	PPP2R3A_uc011blz.2_Missense_Mutation_p.S188F|PPP2R3A_uc003eqw.2_Missense_Mutation_p.S303F|PPP2R3A_uc011bma.1_Non-coding_Transcript	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	924					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	p.S924F(2)|p.S303F(1)		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						GCCGATCTGTCTCGATACAAT	0.348000													12	166					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6077614	6077614	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:6077614C>T	uc002wmr.3	-	7	1813	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	FERMT1_uc002wmq.3_5'Flank|FERMT1_uc010gbt.3_Missense_Mutation_p.E85K|FERMT1_uc002wms.3_Missense_Mutation_p.E342K|FERMT1_uc002wmt.3_Missense_Mutation_p.E85K	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	342	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	p.E342K(3)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCTTCTATTTCATCAACCTCG	0.418000													8	393					0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612000													3	2					0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190129810	190129810	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:190129810A>G	uc001gse.1	-	6	1404	c.1172T>C	c.(1171-1173)cTg>cCg	p.L391P	FAM5C_uc010pot.1_Missense_Mutation_p.L289P	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	391						extracellular region		p.L391P(2)|p.S390I(1)		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)					TTGTCTTGGCAGGCTGATGAG	0.373000													13	135					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25505422	25505422	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:25505422G>A	uc002rgc.3	-	3	593	c.336C>T	c.(334-336)ggC>ggT	p.G112G	DNMT3A_uc002rgd.3_Silent_p.G112G|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgf.3_Silent_p.G112G	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	112					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.G112G(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGGCCCCGCCCTTCTGCC	0.667000			"""Mis, F, N, S"""		AML								4	96					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158064571	158064571	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:158064571C>T	uc001frn.4	+	14	2339	c.1935C>T	c.(1933-1935)agC>agT	p.S645S	KIRREL_uc010pib.2_Silent_p.S545S|KIRREL_uc009wsq.3_Silent_p.S481S|KIRREL_uc001fro.4_Silent_p.S459S|hCG_1995134_uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	645						integral to membrane		p.S661S(1)|p.S481S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCCACTCCAGCGGCTATGCCC	0.672000													6	39					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233394757	233394757	+	Missense_Mutation	SNP	G	G	A	rs148869069	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:233394757G>A	uc002vsw.3	+	6	732	c.728G>A	c.(727-729)cGc>cAc	p.R243H	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.R228H|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	243					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	p.R243H(4)		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)		CTCATCATCCGCCGCAAGCCC	0.607000													18	57					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5798848	5798848	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:5798848A>C	uc003zjm.1	-	11	2282	c.2228T>G	c.(2227-2229)cTt>cGt	p.L743R	ERMP1_uc022bdc.1_Non-coding_Transcript|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_Missense_Mutation_p.L357R	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.	743					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	p.L743R(2)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AAAACCACAAAGAGGTGCATT	0.403000													5	72					0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159790453	159790453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:159790453C>T	uc003iqe.4	+	12	2848	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	889	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	p.R215*(1)|p.R889*(1)		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)		AGACATTCCCCGAAATGAAAG	0.592000													3	27					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371608	126371608	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:126371608T>A	uc003ifj.4	+	8	9437	c.9437T>A	c.(9436-9438)tTa>tAa	p.L3146*	FAT4_uc011cgp.2_Nonsense_Mutation_p.L1444*|FAT4_uc003ifi.1_Nonsense_Mutation_p.L624*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3146	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L3146*(3)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGGTATATTAACACTAGCC	0.398000													4	145					0	0	1	0	0
PLA2G5	5322	broad.mit.edu	37	1	20411351	20411351	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:20411351T>G	uc001bcx.3	+	6	984	c.121T>G	c.(121-123)Ttc>Gtc	p.F41V	PLA2G5_uc001bcy.3_Missense_Mutation_p.F10V	NM_000929	NP_000920	P39877	PA2G5_HUMAN	Homo sapiens phospholipase A2, group V (PLA2G5), mRNA.	10					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	p.F10V(1)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		ACTGGCTTGGTTCCTGGCTTG	0.517000													4	129					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42161556	42161556	+	Silent	SNP	T	T	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:42161556T>C	uc002xkn.1	+	4	566	c.435T>C	c.(433-435)taT>taC	p.Y145Y	L3MBTL1_uc010zwh.2_Silent_p.Y454Y|L3MBTL1_uc002xkm.3_Silent_p.Y386Y|L3MBTL1_uc010ggl.3_Silent_p.Y386Y|L3MBTL1_uc002xkl.3_Silent_p.Y386Y|L3MBTL1_uc002xko.3_Silent_p.Y38Y	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	386					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y454Y(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						ATGATACTTATGACTACTGGT	0.572000													7	77					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr17:7577548C>T	uc002gim.2	-	6	927	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	49					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41465774	41465774	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr21:41465774C>T	uc002yyq.1	-	20	4176	c.3724G>A	c.(3724-3726)Gac>Aac	p.D1242N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1242	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.D1242N(2)		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)				GAAAACGAGTCGGGAGAGGCC	0.478000													22	33					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38991766	38991766	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:38991766G>A	uc021wvy.1	-	0	287	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	30					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R30W(2)|p.R30L(1)		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)	ATGGCAATCCGCTTCTCAATT	0.517000													9	216					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48580269	48580269	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:48580269C>T	uc001zwn.4	+	21	2875	c.2659C>T	c.(2659-2661)Cat>Tat	p.H887Y	SLC12A1_uc010bem.3_Missense_Mutation_p.H887Y|SLC12A1_uc001zwq.4_Missense_Mutation_p.H658Y|SLC12A1_uc001zwr.4_Missense_Mutation_p.H614Y	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	887					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.H887Y(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCAGTCGATGCATGTGGGAGA	0.403000													7	25					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42150888	42150888	+	Missense_Mutation	SNP	G	G	A	rs890503	by1000genomes	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:42150888G>A	uc001zos.3	-	48	8366	c.8033C>T	c.(8032-8034)aCa>aTa	p.T2678I		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2713					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		p.T2713I(2)		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)		CAGCATGGCTGTGTCCAGCAA	0.632000													7	7					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42681231	42681231	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:42681231T>G	uc001zpn.1	+	4	1044	c.738T>G	c.(736-738)agT>agG	p.S246R	CAPN3_uc001zpk.1_Missense_Mutation_p.S19R|CAPN3_uc001zpl.1_Missense_Mutation_p.S159R|CAPN3_uc010udf.1_Missense_Mutation_p.S159R|CAPN3_uc010udg.1_Missense_Mutation_p.S159R|CAPN3_uc001zpo.1_Missense_Mutation_p.S246R|CAPN3_uc001zpp.1_Missense_Mutation_p.S246R	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	246	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	p.S246R(2)|p.P245P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATGCTCCTAGTGACATGTACA	0.542000													17	194					0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69708370	69708370	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:69708370G>A	uc002asb.3	+	1	227	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	KIF23_uc002asc.3_Missense_Mutation_p.G17R|KIF23_uc010bii.3_5'UTR|KIF23_uc010bih.2_Non-coding_Transcript	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	17	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	p.G17R(3)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CGTGAAAAAAGGGTCCCAAAC	0.378000													3	42					0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101163490	101163490	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr10:101163490C>A	uc001kpr.3	-	5	992	c.784G>T	c.(784-786)Ggg>Tgg	p.G262W		NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	262					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.G262W(4)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTGTAGAGCCCGAAGTTCTTG	0.537000													3	111					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371768	126371768	+	Silent	SNP	T	T	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:126371768T>C	uc003ifj.4	+	8	9597	c.9597T>C	c.(9595-9597)taT>taC	p.Y3199Y	FAT4_uc011cgp.2_Silent_p.Y1497Y|FAT4_uc003ifi.1_Silent_p.Y677Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3199	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y3199Y(3)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGATGACTATTTCCCTACTG	0.418000													9	141					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177083293	177083293	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:177083293G>A	uc003iuj.3	+	21	3193	c.2890G>A	c.(2890-2892)Gca>Aca	p.A964T	WDR17_uc003ium.4_Missense_Mutation_p.A940T|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.A183T	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	964								p.A964T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGTACTAGCCGCATGTTGCCA	0.353000													15	62					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148760005	148760005	+	Silent	SNP	A	A	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:148760005A>T	uc003ewq.1	-	18	2363	c.2145T>A	c.(2143-2145)atT>atA	p.I715I	HLTF_uc003ewr.1_Silent_p.I715I|HLTF_uc003ews.1_Silent_p.I714I|HLTF_uc010hve.1_Silent_p.I714I	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	715					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.I715I(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TATGGCAACAAATTTGCCGCA	0.373000													42	113					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101607290	101607290	+	Silent	SNP	C	C	T	rs146215582	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:101607290C>T	uc010yvt.1	+	18	2264	c.2262C>T	c.(2260-2262)gaC>gaT	p.D754D	NPAS2_uc002tap.1_Silent_p.D689D|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	689					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D689D(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTCCTGTGACGCAAGGCAGC	0.607000													8	46					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116767026	116767026	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:116767026T>C	uc001ppy.3	-	5	670	c.634A>G	c.(634-636)Aat>Gat	p.N212D	SIK3_uc001ppz.3_Missense_Mutation_p.N111D|SIK3_uc001pqa.3_Missense_Mutation_p.N212D	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	212	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.N270D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCCCGCAGATTCTGCAGTGTG	0.507000													6	116					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15378658	15378658	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:15378658C>T	uc002rcc.1	-	44	5903	c.5877G>A	c.(5875-5877)gaG>gaA	p.E1959E	NBAS_uc002rcb.1_5'UTR|NBAS_uc010exl.1_Silent_p.E1031E|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1959								p.E1959E(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAAGTGATTTCTCCAGATGAT	0.408000													9	110					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65790302	65790302	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:65790302G>A	uc002aov.3	-	4	2241	c.663C>T	c.(661-663)tgC>tgT	p.C221C	DPP8_uc002aow.3_Silent_p.C221C|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Silent_p.C205C|DPP8_uc002aox.3_Silent_p.C205C|DPP8_uc002aoy.3_Silent_p.C221C|DPP8_uc002aoz.3_Silent_p.C205C|DPP8_uc010bhj.3_Silent_p.C221C	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	221					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	p.C205C(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATCAGCAGGGCATAATTTTG	0.383000													4	154					0	0	1	0	0
RXRB	6257	broad.mit.edu	37	6	33165658	33165658	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr6:33165658C>T	uc003odb.3	-	3	880	c.701G>A	c.(700-702)cGc>cAc	p.R234H	RXRB_uc003odc.3_Missense_Mutation_p.R234H|RXRB_uc011dqr.2_Missense_Mutation_p.R44H|RXRB_uc011dqs.1_Missense_Mutation_p.R117H|RXRB_uc003ode.1_Missense_Mutation_p.R98H|RXRB_uc011dqt.1_Missense_Mutation_p.R234H|RXRB_uc011dqu.1_Missense_Mutation_p.R138H|JA611279_uc021ywi.1_5'Flank|SLC39A7_uc003odf.3_5'Flank|SLC39A7_uc003odg.3_5'Flank|SLC39A7_uc011dqv.2_5'Flank	NM_021976	NP_068811	P28702	RXRB_HUMAN	Homo sapiens retinoid X receptor, beta (RXRB), mRNA.	234					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R234H(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AAGGTCTTTGCGGATGGTGCG	0.542000													3	73					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66947138	66947138	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr16:66947138G>A	uc002eql.3	-	8	1144	c.950C>T	c.(949-951)gCg>gTg	p.A317V	CDH16_uc010cdy.3_Missense_Mutation_p.A317V|CDH16_uc021tjx.1_Missense_Mutation_p.A317V|CDH16_uc002eqm.3_Missense_Mutation_p.A220V	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	317	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A317V(2)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CAGAGGGGCCGCATAGTCCTC	0.622000													5	173					0	0	1	0	0
PRR22	163154	broad.mit.edu	37	19	5784048	5784048	+	Silent	SNP	T	T	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:5784048T>C	uc010xiv.1	-	2	315	c.210A>G	c.(208-210)ccA>ccG	p.P70P	PRR22_uc002mdb.1_Silent_p.P68P	NM_001134316	NP_001127788	Q8IZ63	PRR22_HUMAN	Homo sapiens proline rich 22 (PRR22), mRNA.	68								p.P68P(1)		endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						AGCACCCGCATGGGGCCATCT	0.677000													3	45					0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	53007460	53007460	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr17:53007460G>T	uc002iud.2	+	7	922	c.747G>T	c.(745-747)atG>atT	p.M249I	TOM1L1_uc002iuc.3_Missense_Mutation_p.M249I|TOM1L1_uc010dca.1_Missense_Mutation_p.M249I|TOM1L1_uc010wnb.1_Missense_Mutation_p.M242I|TOM1L1_uc010wnc.1_Missense_Mutation_p.M172I|TOM1L1_uc010dbz.2_Missense_Mutation_p.M172I|TOM1L1_uc010wnd.1_Missense_Mutation_p.M137I|TOM1L1_uc010dcb.1_Non-coding_Transcript	NM_005486	NP_005477	O75674	TM1L1_HUMAN	Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA.	249	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	Golgi stack|cytosol|endosome membrane|lysosome	SH3 domain binding|ubiquitin binding	p.M249I(2)|p.M249V(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GTCGGGAGATGCAGGAGAGGA	0.418000													29	111					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10394818	10394818	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:10394818G>A	uc002mnq.2	+	3	1066	c.747G>A	c.(745-747)caG>caA	p.Q249Q	ICAM1_uc010xle.1_Silent_p.Q27Q|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	249	Ig-like C2-type 3.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	p.Q249Q(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CGGAGGCCCAGGTCCACCTGG	0.647000													4	55					0	0	1	0	0
CDC40	51362	broad.mit.edu	37	6	110547378	110547378	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr6:110547378C>T	uc003pua.3	+	12	1410	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L		NM_015891	NP_056975	O60508	PRP17_HUMAN	Homo sapiens cell division cycle 40 homolog (S. cerevisiae) (CDC40), mRNA.	450					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		p.P450L(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AGGGATATCCCTGTGGATTTC	0.323000													25	88					0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899410	156899410	+	Silent	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:156899410C>T	uc003lwx.4	+	5	959	c.843C>T	c.(841-843)taC>taT	p.Y281Y	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Silent_p.Y262Y	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	281						integral to membrane	receptor activity	p.Y219Y(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCCCACGTTACGGGCAAAGGA	0.512000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	302					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770341	31770341	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:31770341C>T	uc002nsy.4	-	1	423	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	120					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A120T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTGTACACGGCCTTCATCTGC	0.557000													4	75					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577155	158577155	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:158577155G>T	uc010pio.2	+	0	927	c.927G>T	c.(925-927)ttG>ttT	p.L309F		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L309F(2)|p.L309S(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGGGAGATTGCTGGGTAAAG	0.478000													11	241					0	0	1	0	0
PPARD	5467	broad.mit.edu	37	6	35389697	35389697	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr6:35389697G>A	uc003okn.3	+	5	791	c.386G>A	c.(385-387)cGc>cAc	p.R129H	PPARD_uc003okl.3_Missense_Mutation_p.R129H|PPARD_uc011dtb.2_Missense_Mutation_p.R90H|PPARD_uc011dtc.2_Intron|PPARD_uc003okm.3_Missense_Mutation_p.R129H|PPARD_uc010jvv.1_Non-coding_Transcript	NM_001171818	NP_006229	Q03181	PPARD_HUMAN	Homo sapiens peroxisome proliferator-activated receptor delta (PPARD), transcript variant 3, mRNA.	129					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R129H(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CAGTACTGCCGCTTCCAGAAG	0.572000													9	50					0	0	1	0	0
S1PR5	53637	broad.mit.edu	37	19	10625418	10625418	+	Silent	SNP	G	G	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:10625418G>A	uc021uox.1	-	0	270	c.270C>T	c.(268-270)gcC>gcT	p.A90A	S1PR5_uc002mot.2_Silent_p.A90A|S1PR5_uc002mou.2_Silent_p.A90A	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 5 (S1PR5), transcript variant 1, mRNA.	90						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.A90A(2)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						GGATGTTGGCGGCGTAGGCGG	0.672000													5	4					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20890188	20890188	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:20890188C>A	uc010sii.2	+	11	1885	c.1530C>A	c.(1528-1530)aaC>aaA	p.N510K	SLCO1C1_uc010sij.2_Missense_Mutation_p.N461K|SLCO1C1_uc009zip.3_Missense_Mutation_p.N344K|SLCO1C1_uc001rei.3_Missense_Mutation_p.N510K|SLCO1C1_uc010sik.2_Missense_Mutation_p.N392K	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	510	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.N510K(2)		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)					AAACCTCCAACAGGAGTGGAA	0.413000													14	100					0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46542309	46542309	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:46542309A>G	uc003cps.1	+	1	687	c.619A>G	c.(619-621)Atc>Gtc	p.I207V		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	207					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	p.I207V(2)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCAAAACCACATCTGTAGGAA	0.433000													34	151					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637353	248637353	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:248637353T>A	uc001iel.1	+	0	702	c.702T>A	c.(700-702)aaT>aaA	p.N234K		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N234K(2)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			ACAGGATGAATTCTGCCGCCG	0.562000													13	143					0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130653032	130653032	+	Silent	SNP	G	G	A	rs140405426		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:130653032G>A	uc004bsp.1	-	4	707	c.588C>T	c.(586-588)ctC>ctT	p.L196L	ST6GALNAC6_uc004bsn.1_Silent_p.L162L|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bso.1_Silent_p.L196L|ST6GALNAC6_uc004bsq.1_Silent_p.L162L|ST6GALNAC6_uc004bsr.2_Silent_p.L162L|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript			Q969X2	SIA7F_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.	196					protein glycosylation	integral to Golgi membrane|plasma membrane		p.L196L(2)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCACACGCACGAGGCTGCCCT	0.637000													9	75					0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420976	55420976	+	Silent	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:55420976C>A	uc001sgp.4	+	1	1131	c.753C>A	c.(751-753)ggC>ggA	p.G251G	NEUROD4_uc021qyr.1_Silent_p.G251G	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	251					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G251G(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CTTATGAGGGCCCACTCACTC	0.502000													23	159					0	0	1	0	0
CLIC2	1193	broad.mit.edu	37	X	154528413	154528413	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chrX:154528413G>C	uc004fnf.3	-	1	353	c.103C>G	c.(103-105)Cgc>Ggc	p.R35G	CLIC2_uc010nvj.1_Missense_Mutation_p.R53G	NM_001289	NP_001280	O15247	CLIC2_HUMAN	Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA.	35	N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	p.R35G(3)		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)					ATGAAAAGGCGTTGGCAAAAG	0.363000													18	87					0	0	1	0	0
WDFY1	57590	broad.mit.edu	37	2	224749392	224749392	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:224749392C>A	uc002vnq.3	-	8	957	c.906G>T	c.(904-906)tgG>tgT	p.W302C		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	Homo sapiens WD repeat and FYVE domain containing 1 (WDFY1), mRNA.	302						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	p.W302C(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TCTTGGTGTCCCACATCTGCT	0.463000													5	366					0	0	1	0	0
SLC35F5	80255	broad.mit.edu	37	2	114501368	114501368	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:114501368C>T	uc002tku.1	-	5	898	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	SLC35F5_uc002tkt.3_Non-coding_Transcript|SLC35F5_uc002tkv.3_Missense_Mutation_p.E156K	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	162					transport	integral to membrane		p.E162K(2)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TACAGAGGTTCACTCTGGAAT	0.323000													69	196					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15458194	15458194	+	Missense_Mutation	SNP	T	T	C	rs146442781	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:15458194T>C	uc003stb.1	-	4	768	c.598A>G	c.(598-600)Atc>Gtc	p.I200V		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	200					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.I200V(2)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCTGTATGGATCCAAAATTGG	0.348000													19	38					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592755	156592755	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:156592755A>G	uc003lwn.3	-	0	525	c.425T>C	c.(424-426)cTg>cCg	p.L142P		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	142						nucleus		p.L142P(2)|p.R141H(1)|p.L142L(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCGAGTTTCAGGCGCAGCTG	0.493000													3	109					0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176768285	176768286	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:176768285_176768286insA	uc003fiw.4	-	5	800_801	c.540_541insT	c.(538-543)gttagtfs	p.V180fs	TBL1XR1_uc003fix.4_Frame_Shift_Ins_p.V180fs|TBL1XR1_uc011bpz.2_Intron	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	Homo sapiens transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1), mRNA.	180					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			AGGAGATCACTAACAGGGTTCC	0.361													15	64	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:89618484_89618486delTCC	uc003hrx.3	-	0	538_540	c.420_422delGGA	c.(418-423)gaggaa>gaa	p.140_141EE>E	HERC3_uc011cdn.1_Intron|HERC3_uc003hrw.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	Homo sapiens nucleosome assembly protein 1-like 5 (NAP1L5), mRNA.	140	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		gtactcctcttcctcctcctcct	0.606													7	109	---	---	---	---					
CPEB4	80315	broad.mit.edu	37	5	173317315	173317316	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:173317315_173317316insG	uc003mcs.4	+	0	1985_1986	c.579_580insG	c.(577-582)ggagggfs	p.G193fs	CPEB4_uc010jju.2_Frame_Shift_Ins_p.G193fs|CPEB4_uc010jjv.3_Frame_Shift_Ins_p.G193fs|CPEB4_uc011dfg.2_Frame_Shift_Ins_p.G193fs|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	193							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCACCAGGGAGGGGTCCCTGC	0.505													15	157	---	---	---	---					
MKRN1	23608	broad.mit.edu	37	7	140158897	140158897	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:140158897delG	uc003vvt.2	-	3	906	c.681delC	c.(679-681)aacfs	p.N227fs	MKRN1_uc003vvs.2_Frame_Shift_Del_p.N163fs|MKRN1_uc011krd.1_Intron|MKRN1_uc003vvv.4_Frame_Shift_Del_p.N227fs|MKRN1_uc003vvu.4_Frame_Shift_Del_p.N163fs	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.	227							ligase activity|nucleic acid binding|protein binding|zinc ion binding	p.E226K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GATACACACAGTTCTCCCCGT	0.522													19	233	---	---	---	---					
NCAM2	4685	broad.mit.edu	37	21	22658654	22658655	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr21:22658654_22658655insT	uc002yld.2	+	3	652_653	c.403_404insT	c.(403-405)gttfs	p.V135fs	NCAM2_uc011acb.2_Intron|NCAM2_uc011acc.2_Frame_Shift_Ins_p.V160fs	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	135	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGCAGAAGTGGTTTGCCGAGTT	0.401													25	87	---	---	---	---					
