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
PDCD4	27250	broad.mit.edu	37	10	112649373	112649373	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:112649373A>G	uc001kzh.3	+	6	1146	c.860A>G	c.(859-861)gAt>gGt	p.D287G	PDCD4_uc001kzg.3_Missense_Mutation_p.D276G|PDCD4_uc010qre.2_Missense_Mutation_p.D273G	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	287					apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGAACTGTAGATTGTGTGCAG	0.338000													12	57					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81060655	81060655	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:81060655C>G	uc001kaf.2	+	16	2547	c.1975C>G	c.(1975-1977)Ccg>Gcg	p.P659A	ZMIZ1_uc001kag.2_Missense_Mutation_p.P535A	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	659					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CGTGTGCCAGCCGGGCCGCAA	0.667000													36	73					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25507167	25507167	+	Silent	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:25507167G>A	uc002wux.1	-	1	131	c.57C>T	c.(55-57)tgC>tgT	p.C19C	NINL_uc010gdn.1_Silent_p.C19C|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Silent_p.C35C	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	19	EF-hand 1.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCGTGGTGTCGCAGCTGCTGT	0.577000													48	66					0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99498333	99498333	+	Silent	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr10:99498333A>G	uc021pwq.1	+	0	100	c.99A>G	c.(97-99)ccA>ccG	p.P33P	ZFYVE27_uc001kok.2_Non-coding_Transcript|ZFYVE27_uc010qpc.2_Non-coding_Transcript|ZFYVE27_uc001kol.2_Silent_p.P33P|ZFYVE27_uc001kom.2_Silent_p.P33P|ZFYVE27_uc010qpb.2_Intron|ZFYVE27_uc010qpd.2_Silent_p.P33P|ZFYVE27_uc001koq.3_Silent_p.P33P|ZFYVE27_uc010qpa.2_Silent_p.P33P	NM_001002261	NP_001002261	Q5T4F4	ZFY27_HUMAN	Homo sapiens zinc finger, FYVE domain containing 27 (ZFYVE27), transcript variant 1, mRNA.	33					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CCAAGTCCCCAGCGTTTGACC	0.562000													28	60					0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48086188	48086188	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:48086188A>C	uc003toh.4	+	4	694	c.482A>C	c.(481-483)gAg>gCg	p.E161A	C7orf57_uc003toi.4_Missense_Mutation_p.E35A	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.	161										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AGAGAGGCTGAGGAACTTGAA	0.463000													5	12					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211457603	211457604	+	Splice_Site	DNP	GG	GG	AA			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr2:211457603_211457604GG>AA	uc010fur.3	+	12	1187	c.1105_splice	c.e12-1	p.G369_splice	CPS1_uc002vee.4_Splice_Site_p.G363_splice|CPS1_uc010fus.3_5'Flank	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	363	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATTCCTTTAGGGGATTATGCAT	0.421000													26	58					0	0	1	0	0
PCGF2	7703	broad.mit.edu	37	17	36895858	36895858	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:36895858G>A	uc002hqp.1	-	3	436	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_007144	NP_009075	P35227	PCGF2_HUMAN	Homo sapiens polycomb group ring finger 2 (PCGF2), mRNA.	64					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R64W(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					AGCAGCGGCCGGGTTTTATGG	0.617000													32	96					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50154329	50154329	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:50154329A>G	uc002poq.3	+	6	807	c.683A>G	c.(682-684)tAt>tGt	p.Y228C		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	228	Pro-rich.				RNA splicing|mRNA processing	nucleus	RNA binding	p.I227N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TTCGATATCTATGACCCCTTC	0.657000													27	52					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52443516	52443516	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:52443516C>T	uc002pxz.2	+	3	534	c.70C>T	c.(70-72)Ctc>Ttc	p.L24F	ZNF613_uc002pya.2_5'UTR	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GGAGTGGCAGCTCCTCGGCCC	0.512000													52	78					0	0	1	0	0
C1orf56	54964	broad.mit.edu	37	1	151020356	151020356	+	Silent	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:151020356C>T	uc001ewn.3	+	0	98	c.33C>T	c.(31-33)gtC>gtT	p.V11V	C1orf56_uc021oyi.1_Silent_p.V11V	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	Homo sapiens chromosome 1 open reading frame 56 (C1orf56), mRNA.	11						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCTGTGGGTCCTGCTGCTGA	0.697000													9	31					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205138578	205138578	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:205138578A>T	uc001hbw.3	-	2	1101	c.1037T>A	c.(1036-1038)tTt>tAt	p.F346Y	DSTYK_uc001hbx.3_Missense_Mutation_p.F346Y|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	346						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.M346T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CTGGTGAGAAAATGTGCTCAA	0.522000													5	101					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63554510	63554510	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:63554510G>A	uc002jfi.3	-	1	518	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	AXIN2_uc010den.1_Missense_Mutation_p.R77W|AXIN2_uc002jfh.3_Missense_Mutation_p.R77W|AXIN2_uc002jfj.1_Missense_Mutation_p.R77W	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	77					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTGGTCCACCGGGTCAGAGGG	0.572000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				4	90					0	0	1	0	0
FLT3LG	2323	broad.mit.edu	37	19	49979779	49979779	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:49979779C>T	uc002pnu.3	+	4	408	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	FLT3LG_uc002pnw.3_Missense_Mutation_p.R18C|FLT3LG_uc010yau.2_Missense_Mutation_p.R100C|FLT3LG_uc002pnv.3_Missense_Mutation_p.R18C|FLT3LG_uc002pnx.3_Missense_Mutation_p.R100C|FLT3LG_uc010yav.2_Missense_Mutation_p.R18C	NM_001459	NP_001450	P49771	FLT3L_HUMAN	Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.	100					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTTGCTGGAGCGCGTGAACAC	0.592000											OREG0025623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	51					0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868467	58868467	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:58868467G>C	uc002qsh.2	-	2	818	c.535C>G	c.(535-537)Cac>Gac	p.H179D	A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.H179D|ZNF497_uc021vcw.1_Missense_Mutation_p.H179D|BC023201_uc002qsj.1_5'UTR|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCCTGGTGGTGGATGAGCTGC	0.677000													8	22					0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2279468	2279468	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:2279468G>A	uc002fum.4	+	18	2699	c.2522G>A	c.(2521-2523)cGc>cAc	p.R841H	SGSM2_uc002fun.4_Missense_Mutation_p.R796H|SGSM2_uc010vqw.2_Missense_Mutation_p.R796H|SGSM2_uc002fuq.3_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	796	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AACCTGCACCGCATAGACAAG	0.597000													4	93					0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11904148	11904148	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:11904148C>T	uc002wnz.3	+	3	1762	c.1403C>T	c.(1402-1404)aCa>aTa	p.T468I	BTBD3_uc002wny.3_Missense_Mutation_p.T407I|BTBD3_uc002woa.3_Missense_Mutation_p.T407I|BTBD3_uc010zrf.2_Missense_Mutation_p.T317I|BTBD3_uc010zrg.2_Missense_Mutation_p.T317I|BTBD3_uc010zrh.2_Missense_Mutation_p.T317I	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	468										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						ACCTTCTACACAGCCAGTGTG	0.493000													10	33					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228465534	228465534	+	Silent	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:228465534A>G	uc009xez.1	+	24	6878	c.6834A>G	c.(6832-6834)gaA>gaG	p.E2278E	OBSCN_uc001hsn.3_Silent_p.E2278E|OBSCN_uc001hsp.1_5'UTR|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2278					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAAATGCAGAATCGCGAGCCC	0.617000													26	195					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77171140	77171140	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr18:77171140G>A	uc010xfg.2	+	1	1318	c.865G>A	c.(865-867)Ggc>Agc	p.G289S	NFATC1_uc002lnc.1_Missense_Mutation_p.G289S|NFATC1_uc010xff.1_Missense_Mutation_p.G289S|NFATC1_uc002lnd.3_Missense_Mutation_p.G289S|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.G289S|NFATC1_uc010xfi.1_Missense_Mutation_p.G276S|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.G276S|NFATC1_uc002lng.3_Missense_Mutation_p.G276S|NFATC1_uc010xfk.2_Missense_Mutation_p.G276S	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	289	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GTCCCCGCACGGCTCCCCGCG	0.687000													39	64					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176311066	176311066	+	Silent	SNP	A	A	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr5:176311066A>G	uc003mfa.3	-	13	2019	c.1927T>C	c.(1927-1929)Ttg>Ctg	p.L643L	HK3_uc003mez.3_Silent_p.L199L	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	643	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTCCCGCAACAGACTCACG	0.577000													47	81					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541409	55541409	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:55541409C>A	uc010ril.2	+	0	496	c.496C>A	c.(496-498)Ctt>Att	p.L166I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATATTTTCTTCTTGACTTATC	0.423000													24	65					0	0	1	0	0
SOAT1	6646	broad.mit.edu	37	1	179310209	179310209	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:179310209C>T	uc001gml.3	+	6	775	c.544C>T	c.(544-546)Cct>Tct	p.P182S	SOAT1_uc010pni.2_Missense_Mutation_p.P117S|SOAT1_uc001gmm.3_Missense_Mutation_p.P124S|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.P117S	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	182					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TGGCAAATTTCCTACCGTTGT	0.418000													43	48					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51921515	51921515	+	Silent	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr6:51921515G>A	uc003pah.1	-	17	1950	c.1674C>T	c.(1672-1674)ctC>ctT	p.L558L	PKHD1_uc003pai.3_Silent_p.L558L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	558					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATCCAAGCCGGAGAAGGATGT	0.393000													24	54					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61885116	61885116	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:61885116G>A	uc002jbu.3	+	9	1136	c.879G>A	c.(877-879)atG>atA	p.M293I	DDX42_uc002jbv.3_Missense_Mutation_p.M293I|DDX42_uc002jbw.1_Missense_Mutation_p.M29I|DDX42_uc002jbx.3_Missense_Mutation_p.M29I	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	293	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GTAGAGACATGATTGGTATTG	0.413000													37	76					0	0	1	0	0
CASP6	839	broad.mit.edu	37	4	110617580	110617580	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr4:110617580A>T	uc003hzn.1	-	3	371	c.293T>A	c.(292-294)cTc>cAc	p.L98H	CASP6_uc003hzo.1_Intron	NM_001226	NP_001217	P55212	CASP6_HUMAN	Homo sapiens caspase 6, apoptosis-related cysteine peptidase (CASP6), transcript variant alpha, mRNA.	98					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding	p.L98F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		ATGAATTTTGAGCAGTAGTTC	0.328000													13	15					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3438882	3438882	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:3438882C>G	uc002fvr.2	-	6	1091	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.E241Q|TRPV3_uc010vri.1_Missense_Mutation_p.E212Q|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.E257Q|TRPV3_uc010vrj.1_Missense_Mutation_p.E241Q|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.E241Q|TRPV3_uc002fvu.3_Missense_Mutation_p.E257Q	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	257						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TAGAAGCCTTCGTGTTGGTAC	0.692000													20	38					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869104	36869104	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr20:36869104T>C	uc002xhy.1	-	2	1701	c.1429A>G	c.(1429-1431)Aga>Gga	p.R477G	KIAA1755_uc002xhz.1_Missense_Mutation_p.R477G	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	477										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCTGCCCTCTCAAGAATGAG	0.572000													4	51					0	0	1	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4498373	4498373	+	Splice_Site	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr19:4498373G>A	uc002mao.3	+	12	1566	c.1473_splice	c.e12+1	p.P491_splice	HDGFRP2_uc002map.3_Splice_Site_p.P491_splice|HDGFRP2_uc010dtz.1_Splice_Site|HDGFRP2_uc002maq.1_5'Flank|HDGFRP2_uc010dua.3_5'Flank	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	491					transcription, DNA-dependent	nucleus	DNA binding|protein binding										TCGACAGCCCGGTAAGACCCT	0.627000													7	16					0	0	1	0	0
GULP1	51454	broad.mit.edu	37	2	189452645	189452645	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr2:189452645C>T	uc010fru.3	+	10	1481	c.812C>T	c.(811-813)cCa>cTa	p.P271L	GULP1_uc002uqd.3_Missense_Mutation_p.P271L|GULP1_uc010zfw.2_Missense_Mutation_p.P168L|GULP1_uc002uqg.3_Missense_Mutation_p.P271L|GULP1_uc002uqf.3_Missense_Mutation_p.P271L|GULP1_uc002uqh.1_Missense_Mutation_p.P91L	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	Homo sapiens GULP, engulfment adaptor PTB domain containing 1 (GULP1), transcript variant 1, mRNA.	271					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			GATTTCCCTCCAGATATTCAA	0.358000													16	33					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886643	123886643	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:123886643G>A	uc010sac.2	+	0	362	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R121C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCCTATGATCGCTACTTGGCC	0.572000													33	118					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269180	1269180	+	Silent	SNP	C	C	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr11:1269180C>A	uc001lta.3	+	30	11129	c.11070C>A	c.(11068-11070)acC>acA	p.T3690T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3690	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGGGACGACCTGGATCCTCA	0.622000													123	245					0	0	1	0	0
FAM101B	359845	broad.mit.edu	37	17	293075	293075	+	Silent	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr17:293075C>T	uc002frj.3	-	1	316	c.315G>A	c.(313-315)aaG>aaA	p.K105K		NM_182705	NP_874364	Q8N5W9	F101B_HUMAN	Homo sapiens family with sequence similarity 101, member B (FAM101B), mRNA.	175										breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		TGTAGACGGCCTTGGGGTACT	0.642000													16	36					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				17	32					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20403260	20403260	+	Splice_Site	SNP	A	A	C			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:20403260A>C	uc003suu.3	+	2	833	c.128_splice	c.e2-1	p.E43_splice	ITGB8_uc011jyh.2_Splice_Site|ITGB8_uc003sut.3_Splice_Site_p.E43_splice	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	43					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TTCATTGCAGAAGACAATAGA	0.368000													8	15					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2582951	2582951	+	Silent	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:2582951G>A	uc003smi.3	-	5	1098	c.810C>T	c.(808-810)ccC>ccT	p.P270P	BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_3'UTR|BRAT1_uc003smj.2_3'UTR	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	270					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AACTGAACACGGGAGAACTGC	0.627000													28	51					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149943019	149943019	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:149943019G>A	uc001eto.3	-	0	161	c.143C>T	c.(142-144)tCc>tTc	p.S48F	OTUD7B_uc001etn.3_Silent_p.I82I			Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	0					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCCGCTGGAGGATGGGTCGGG	0.532000													8	141					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183520210	183520210	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr1:183520210C>T	uc001gqf.3	+	21	3447	c.3197C>T	c.(3196-3198)tCa>tTa	p.S1066L	SMG7_uc001gqh.3_Missense_Mutation_p.S1016L|SMG7_uc001gqg.3_Missense_Mutation_p.S1062L|SMG7_uc010poc.2_Missense_Mutation_p.S1070L	NM_201569	NP_963863	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 4, mRNA.	1062					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GATTATCTCTCAGCAACGTCA	0.517000													16	56					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104153016	104153016	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr12:104153016C>A	uc001tjw.3	+	64	7399	c.7213C>A	c.(7213-7215)Ctg>Atg	p.L2405M	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2405	FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGGAAGCAAGCTGCTCATCAC	0.547000													23	49					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70800541	70800541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr5:70800541C>T	uc003kbp.1	+	15	2598	c.2335C>T	c.(2335-2337)Cag>Tag	p.Q779*	BDP1_uc003kbn.1_Nonsense_Mutation_p.Q779*|BDP1_uc003kbo.3_Nonsense_Mutation_p.Q779*	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	779					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCAAAATGTGCAGCCAGATGA	0.333000													11	27					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138968642	138968642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A3O3-01A-11D-A21Z-08	TCGA-EM-A3O3-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb360bf-44b7-4550-80df-f34bcddbcb0c	69ba99c4-bd56-4c2c-aeab-a4bc4fb12c1c	g.chr7:138968642delC	uc011kqr.2	+	14	2991	c.2991delC	c.(2989-2991)cacfs	p.H997fs		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	997	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAGGGTCCCACCCCCTGGTTT	0.493													22	45	---	---	---	---