Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ESPNP	284729	broad.mit.edu	37	1	17023110	17023110	+	Missense_Mutation	SNP	G	A	A	rs11260887	by1000genomes	TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr1:17023110G>A	uc001azn.1	-	9	1754	c.1640C>T	c.(1639-1641)cCg>cTg	p.P547L						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GTTGAGCAGCGGCTGAAACCC	0.687000														11			4		0	0	0.00116845	0	0
GOLGA6D	653643	broad.mit.edu	37	15	75580622	75580622	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr15:75580622C>T	uc010uma.2	+	6	516	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C		NM_001145224	NP_001138696	P0CG33	GOG6D_HUMAN	Homo sapiens golgin A6 family, member D (GOLGA6D), mRNA.	161										kidney(1)|lung(1)	2						TCTGGCTGGCCGCCTGCAATA	0.527000														33			5		0	0	0.000157383	0	0
ID2	3398	broad.mit.edu	37	2	8822514	8822514	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr2:8822514G>C	uc002qza.3	+	0	402	c.219G>C	c.(217-219)ttG>ttC	p.L73F		NM_002166	NP_002157	Q02363	ID2_HUMAN	Homo sapiens inhibitor of DNA binding 2, dominant negative helix-loop-helix protein (ID2), mRNA.	73	Helix-loop-helix motif.				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTACATCTTGGACCTGCAGA	0.587000														138			22		0	0	0.00188189	0	0
NBEA	26960	broad.mit.edu	37	13	35619181	35619181	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr13:35619181C>G	uc021rid.1	+	2	1158	c.624C>G	c.(622-624)atC>atG	p.I208M	NBEA_uc021ric.1_Missense_Mutation_p.I208M	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	208						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAAGTGGAATCTGGGTAAGCT	0.398000														5			4		0	0	0.000602214	0	0
LAMB2	3913	broad.mit.edu	37	3	49165975	49165975	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr3:49165975G>A	uc003cwe.3	-	14	2233	c.1934C>T	c.(1933-1935)cCa>cTa	p.P645L	LAMB2_uc003cwf.1_Missense_Mutation_p.P645L	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	645	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACAGGCCCTGGACGCTGCAC	0.597000														35			9		0	0	0.000442599	0	0
ASPM	259266	broad.mit.edu	37	1	197091378	197091378	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr1:197091378G>C	uc001gtu.3	-	14	3909	c.3652C>G	c.(3652-3654)Cac>Gac	p.H1218D	ASPM_uc001gtv.3_Missense_Mutation_p.H1218D|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1218	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTAACCAAGTGAAAATTTTTC	0.348000														25			3		0	0	6.4e-05	0	0
LGI4	163175	broad.mit.edu	37	19	35616221	35616221	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr19:35616221G>A	uc002nxx.2	-	8	2084	c.1490C>T	c.(1489-1491)cCg>cTg	p.P497L	LGI4_uc002nxy.1_Missense_Mutation_p.P325L|LGI4_uc002nxz.1_3'UTR	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 4 (LGI4), mRNA.	497						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CACCAGGGCCGGAGGCCCCAG	0.642000														30			4		0	0	0.000602214	0	0
ZNF99	7652	broad.mit.edu	37	19	22941562	22941562	+	Silent	SNP	G	A	A			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr19:22941562G>A	uc021urt.1	-	3	1304	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.A292A(1)|p.I382M(1)		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)				GTTTTCTAAGGGCTGACAAAT	0.368000														51			6		0	0	0.00198382	0	0
ID2	3398	broad.mit.edu	37	2	8822644	8822644	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr2:8822644G>A	uc002qza.3	+	1	531	c.348_splice	c.e1+1	p.Q116_splice		NM_002166	NP_002157	Q02363	ID2_HUMAN	Homo sapiens inhibitor of DNA binding 2, dominant negative helix-loop-helix protein (ID2), mRNA.	116					cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCCTTGCAGGTAAGACCTGC	0.632000														83			20		0	0	0.00121646	0	0
HAO2	51179	broad.mit.edu	37	1	119925606	119925606	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr1:119925606A>T	uc001ehr.1	+	2	332	c.200A>T	c.(199-201)gAg>gTg	p.E67V	HAO2_uc001ehq.1_Missense_Mutation_p.E67V	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	67	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ATCCAAGGGGAGGAGATCAGT	0.547000														18			5		0	0	0.000602214	0	0
CYBA	1535	broad.mit.edu	37	16	88713222	88713222	+	Silent	SNP	C	A	A			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr16:88713222C>A	uc002flb.3	-	3	264	c.228G>T	c.(226-228)gtG>gtT	p.V76V	CYBA_uc002flc.1_5'Flank|CYBA_uc002fld.1_Silent_p.V76V|CYBA_uc010chx.1_Silent_p.V76V	NM_000101	NP_000092	P13498	CY24A_HUMAN	Homo sapiens cytochrome b-245, alpha polypeptide (CYBA), mRNA.	76					cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	SH3 domain binding|electron carrier activity|heme binding|protein heterodimerization activity			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ACAGCTTCACCACGGCGGTCA	0.652000														26			10		6.40141e-05	0.000500355	0.000978159	1	0
GABRD	2563	broad.mit.edu	37	1	1961584	1961584	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr1:1961584C>T	uc001aip.2	+	8	1317	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	408						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGGGGCAGCCCGCTCAGGAGG	0.701000														45			6		0	0	0.00116845	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334125	39334125	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr17:39334125G>C	uc002hwd.3	-	0	336	c.292C>G	c.(292-294)Ccc>Gcc	p.P98A		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA.	98	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCAGGTGGGCTGGCAGTAC	0.667000														64			6		0	0	0.00116845	0	0
DNAH5	1767	broad.mit.edu	37	5	13737373	13737373	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr5:13737373C>T	uc003jfd.2	-	65	11485	c.11443G>A	c.(11443-11445)Gaa>Aaa	p.E3815K	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3815					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3815K(2)		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)					GGTCTGTATTCCTCCCGGGCT	0.428000									Kartagener syndrome					106			15		0	0	0.000422831	0	0
ZNF99	7652	broad.mit.edu	37	19	22940600	22940600	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr19:22940600G>T	uc021urt.1	-	3	2266	c.2111C>A	c.(2110-2112)cCc>cAc	p.P704H		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											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)				ACATTTGTAGGGTTTCTTTCC	0.373000														23			4		1.024e-07	8.52591e-07	0.000602214	1	0
GFPT2	9945	broad.mit.edu	37	5	179731790	179731790	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr5:179731790C>A	uc003mlw.1	-	16	1922	c.1824G>T	c.(1822-1824)caG>caT	p.Q608H		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	608	SIS 2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCGTGACTTGCTGCAGGGCGT	0.592000														186			12		0.00010058	0.000770442	0.00136819	1	0
ILF3	3609	broad.mit.edu	37	19	10790580	10790580	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr19:10790580T>A	uc002mpn.3	+	7	1153	c.836T>A	c.(835-837)cTg>cAg	p.L279Q	ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Missense_Mutation_p.L279Q|ILF3_uc002mpl.2_Missense_Mutation_p.L279Q|ILF3_uc002mpk.2_Missense_Mutation_p.L279Q|ILF3_uc002mpo.3_Missense_Mutation_p.L279Q|ILF3_uc002mpp.3_Missense_Mutation_p.L100Q	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	279	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CTGGAGTGCCTGGCGTCGGGC	0.632000														23			5		0	0	0.00116845	0	0
MUC16	94025	broad.mit.edu	37	19	9080450	9080450	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr19:9080450C>T	uc002mkp.3	-	2	9784	c.9580_splice	c.e2+1	p.G3194_splice		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3195	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						TCTATATTTACCTGCTGGACT	0.448000														47			8		0	0	0.000442599	0	0
GLI3	2737	broad.mit.edu	37	7	42005321	42005321	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr7:42005321G>T	uc011kbh.2	-	14	3441	c.3350C>A	c.(3349-3351)cCg>cAg	p.P1117Q	GLI3_uc011kbg.2_Missense_Mutation_p.P1058Q	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1117					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	p.P1117Q(2)		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						GCTGTCGTCCGGGAGGGCGCT	0.637000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					74			4		0.000602214	0.00452251	0.000602214	1	0
ALS2CL	259173	broad.mit.edu	37	3	46722884	46722884	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr3:46722884C>A	uc003cqa.2	-	12	1481	c.1288G>T	c.(1288-1290)Gag>Tag	p.E430*	ALS2CL_uc003cpz.2_5'UTR|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Nonsense_Mutation_p.E430*	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	430				E -> G (in Ref. 2; BAD18448).	endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TTGTACACCTCGTCGGTGCTG	0.652000														61			5		0.00116845	0.00844367	0.00116845	1	0
FAM151A	338094	broad.mit.edu	37	1	55076151	55076151	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr1:55076151G>C	uc001cxn.3	-	6	1150	c.1018C>G	c.(1018-1020)Ctg>Gtg	p.L340V	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	340						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TCCACATTCAGACCGTCATCC	0.592000														48			4		0	0	0.00116845	0	0
ASH1L	55870	broad.mit.edu	37	1	155450458	155450458	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr1:155450458C>G	uc009wqq.3	-	2	2683	c.2203G>C	c.(2203-2205)Gaa>Caa	p.E735Q	ASH1L_uc001fkt.3_Missense_Mutation_p.E735Q|ASH1L_uc009wqr.1_Missense_Mutation_p.E735Q	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	735					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTTCTAATTCTAGCCCTTTT	0.393000														36			7		0	0	0.00198382	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257473	114257473	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr2:114257473C>G	uc002tjw.4	+	0	813	c.640C>G	c.(640-642)Ctg>Gtg	p.L214V		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA.	214	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GGGAGCCCACCTGCCCCACCC	0.697000														32			17		0	0	0.00047179	0	0
NSD1	64324	broad.mit.edu	37	5	176721888	176721888	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr5:176721888G>A	uc003mfr.4	+	22	7657	c.7519G>A	c.(7519-7521)Ggc>Agc	p.G2507S	NSD1_uc003mft.4_Missense_Mutation_p.G2238S|NSD1_uc011dfx.2_Missense_Mutation_p.G2155S|NSD1_uc021yip.1_Missense_Mutation_p.G331S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2507					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGTTGAGAAAGGCTGTGTGTC	0.537000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				108			16		0	0	0.000958276	0	0
MSANTD4	84437	broad.mit.edu	37	11	105880673	105880673	+	Silent	SNP	T	C	C			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr11:105880673T>C	uc001piy.3	-	2	800	c.627A>G	c.(625-627)aaA>aaG	p.K209K	MSANTD4_uc001piz.3_Silent_p.K209K	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	Homo sapiens KIAA1826 (KIAA1826), mRNA.	209						nucleus											CTAGTTTCTGTTTCTCAATAT	0.438000														44			13		0	0	0.00244969	0	0
PLOD1	5351	broad.mit.edu	37	1	12025608	12025608	+	Silent	SNP	C	T	T			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr1:12025608C>T	uc010obb.2	+	14	1796	c.1683C>T	c.(1681-1683)acC>acT	p.T561T	PLOD1_uc001atm.3_Silent_p.T514T	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	514					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion 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)	ACCGCACCACCCACCTGCACA	0.632000														67			14		0	0	0.000308642	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206905225	206905225	+	Silent	SNP	G	T	T			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr1:206905225G>T	uc001hem.2	+	8	1230	c.1020G>T	c.(1018-1020)cgG>cgT	p.R340R	MAPKAPK2_uc001hel.2_Silent_p.R340R	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	340					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ACACCAGCCGGGTCCTGAAGG	0.622000														53			12		2.27111e-07	1.85071e-06	0.00136819	1	0
DNAH5	1767	broad.mit.edu	37	5	13737425	13737425	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr5:13737425C>A	uc003jfd.2	-	65	11433	c.11391G>T	c.(11389-11391)caG>caT	p.Q3797H	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3797	AAA 5 (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)					TTTCTAGCTTCTGTGTCACCT	0.463000									Kartagener syndrome					108			15		2.32078e-09	1.97525e-08	0.000308642	1	0
TOM1L1	10040	broad.mit.edu	37	17	52981124	52981124	+	Silent	SNP	C	T	T			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr17:52981124C>T	uc002iud.2	+	1	289	c.114C>T	c.(112-114)atC>atT	p.I38I	TOM1L1_uc002iub.3_Silent_p.I3I|TOM1L1_uc002iuc.3_Silent_p.I38I|TOM1L1_uc010dca.1_Silent_p.I38I|TOM1L1_uc010wnb.1_Silent_p.I38I|TOM1L1_uc010wnc.1_Intron|TOM1L1_uc010dbz.2_Intron|TOM1L1_uc010wnd.1_5'UTR|TRNA_uc021uah.1_5'Flank	NM_005486	NP_005477	O75674	TM1L1_HUMAN	Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA.	38	VHS.				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			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TCATGCACATCTGTGACATAA	0.428000														61			9		0	0	0.000442599	0	0
FRG1B	284802	broad.mit.edu	37	20	29628233	29628233	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr20:29628233A>G	uc010ztl.1	+	2	177	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.M1V					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTAGGGGAAAATGGCTTTGTT	0.363000														42			4		0	0	0.00116845	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940148	68940148	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr10:68940148C>T	uc009xpn.1	-	6	1097	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	CTNNA3_uc001jmw.2_Missense_Mutation_p.R325Q|CTNNA3_uc001jmx.4_Missense_Mutation_p.R325Q|CTNNA3_uc009xpo.1_Missense_Mutation_p.R185Q|CTNNA3_uc001jna.2_Missense_Mutation_p.R337Q	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	325					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						AATCCGCTCTCGGTGTAAGTC	0.512000														30			10		0	0	0.000673444	0	0
EGF	1950	broad.mit.edu	37	4	110882136	110882136	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr4:110882136C>T	uc003hzy.4	+	6	1632	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*	EGF_uc011cfu.2_Nonsense_Mutation_p.R352*|EGF_uc011cfv.2_Nonsense_Mutation_p.R394*	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	394	EGF-like 2; calcium-binding (Potential).				DNA replication|angiogenesis|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 MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor 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)	TGATGGGAAACGATGTCATCG	0.398000														34			9		0	0	0.000274275	0	0
GPR20	2843	broad.mit.edu	37	8	142367126	142367126	+	Missense_Mutation	SNP	C	T	T	rs150478338		TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr8:142367126C>T	uc022bby.1	-	0	898	c.898G>A	c.(898-900)Gtc>Atc	p.V300I	GPR20_uc003ywf.3_Missense_Mutation_p.V300I	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	300						integral to plasma membrane	G-protein coupled receptor activity	p.V300I(2)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCACTGGTGACGAAGCAGTAG	0.647000														50			7		0	0	0.000157383	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203711	140203711	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr5:140203711A>G	uc003lhj.1	+	0	2351	c.2351A>G	c.(2350-2352)aAc>aGc	p.N784S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Splice_Site_p.N784_splice|PCDHAC2_uc003lhk.1_Splice_Site_p.N784_splice	NM_031501	NP_113689	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 2, mRNA.	0					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)			TCTACAGACAACGTGAGTTTT	0.428000														85			7		0	0	0.00198382	0	0
MEGF10	84466	broad.mit.edu	37	5	126738307	126738307	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr5:126738307C>A	uc003kuh.4	+	8	1212	c.850C>A	c.(850-852)Cat>Aat	p.H284N	MEGF10_uc010jdc.1_Missense_Mutation_p.H284N|MEGF10_uc010jdd.1_Missense_Mutation_p.H284N|MEGF10_uc003kui.4_Missense_Mutation_p.H284N	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	284	EGF-like 5.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				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)		ATGCCAGTGCCATAATGGAGG	0.507000														74			23		5.45024e-15	4.74419e-14	0.00047179	1	0
PXDN	7837	broad.mit.edu	37	2	1652989	1652989	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr2:1652989G>A	uc002qxa.3	-	16	2627	c.2563C>T	c.(2563-2565)Ccc>Tcc	p.P855S		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	855					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AAGCAGGGGGGGTCGTTGCTG	0.677000														102			4		0	0	0.00024832	0	0
ANKMY2	57037	broad.mit.edu	37	7	16650312	16650312	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr7:16650312A>C	uc003sti.3	-	5	852	c.608T>G	c.(607-609)tTg>tGg	p.L203W	ANKMY2_uc010ktz.3_Non-coding_Transcript	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA.	203						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CTCACAAATCAAATCCATCAC	0.373000														46			11		0	0	0.00185496	0	0
CT47B1	643311	broad.mit.edu	37	X	120007818	120007818	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chrX:120007818C>T	uc011muc.2	-	1	1087	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	278										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TTCTCTTCCTCGCCTGCAGCA	0.468000														337			89		0	0	0.000781405	0	0
BRD3	8019	broad.mit.edu	37	9	136918456	136918456	+	Silent	SNP	C	T	T			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr9:136918456C>T	uc004cew.3	-	1	332	c.144G>A	c.(142-144)aaG>aaA	p.K48K	BRD3_uc004cex.2_Silent_p.K48K	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	48						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TCCAGAGCGTCTTCACCACCA	0.637000			T	C15orf55	lethal midline carcinoma of young people									53			8		0	0	0.000274275	0	0
IFIT2	3433	broad.mit.edu	37	10	91066107	91066107	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr10:91066107A>G	uc009xts.3	+	1	569	c.394A>G	c.(394-396)Aga>Gga	p.R132G	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.	132					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)				CAGTCCCTATAGAATTGAGAG	0.458000														33			8		0	0	0.000442599	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19522626	19522626	+	Splice_Site	SNP	G	C	C			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr12:19522626G>C	uc001reb.3	+	25	3365	c.3257_splice	c.e25-1	p.V1086_splice	PLEKHA5_uc001rea.3_Splice_Site_p.V1144_splice|PLEKHA5_uc009zin.3_Splice_Site_p.V844_splice|PLEKHA5_uc010sig.2_Splice_Site_p.V1068_splice|PLEKHA5_uc021qvy.1_Splice_Site_p.V1075_splice|PLEKHA5_uc009zio.3_Splice_Site_p.V352_splice	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	1086							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GTGTGTTTTAGTGAAAAGTCT	0.408000														19			7		0	0	0.00198382	0	0
VPS13D	55187	broad.mit.edu	37	1	12433805	12433805	+	Splice_Site	SNP	C	A	A			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr1:12433805C>A	uc001atv.3	+	55	10950	c.10809_splice	c.e55-1	p.G3603_splice	VPS13D_uc001atw.3_Splice_Site_p.G3578_splice|VPS13D_uc001atx.3_Splice_Site_p.G2790_splice|VPS13D_uc009vnl.3_Splice_Site	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3602					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)		TAAATTCTAGCTTGCAGGAGG	0.373000														36			6		0.00116845	0.00844367	0.00116845	1	0
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chr4:56336954delA	uc003haz.1	-	8	1294	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_uc003hba.1_Frame_Shift_Del_p.L123fs	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	123	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L123fs*1(4)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289													---	88	---	---	8	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-D3-A3CF-06A-11D-A196-08	TCGA-D3-A3CF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4de17e47-b1e8-458e-a8f1-be1e5d095f17	5f9d120e-e36f-45c2-8cbf-d11e68d80b2a	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			---	9	---	---	4	---