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
PHLPP2	23035	broad.mit.edu	37	16	71683236	71683236	+	Missense_Mutation	SNP	T	C	C			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr16:71683236T>C	uc002fax.3	-	17	3535	c.3529A>G	c.(3529-3531)Agg>Ggg	p.R1177G	PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Missense_Mutation_p.R1110G|PHLPP2_uc021tkv.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	1177						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCCAGATCCCTCCCCCTGCAG	0.542000														108			3		0	0	1	0	0
C1orf27	54953	broad.mit.edu	37	1	186359875	186359875	+	Silent	SNP	A	G	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:186359875A>G	uc021pgj.1	+	5	526	c.507A>G	c.(505-507)caA>caG	p.Q169Q	MIR548F1_uc021pgf.1_Intron|C1orf27_uc021pgg.1_Silent_p.Q169Q|C1orf27_uc021pgh.1_Silent_p.Q169Q|C1orf27_uc021pgi.1_Silent_p.Q137Q|C1orf27_uc021pgk.1_Silent_p.Q169Q|C1orf27_uc021pgl.1_Silent_p.Q137Q	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	Homo sapiens chromosome 1 open reading frame 27 (C1orf27), transcript variant 1, mRNA.	169						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GGAAGTATCAAAGTGGATTAT	0.373000														34			27		0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108128006	108128006	+	Missense_Mutation	SNP	G	T	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:108128006G>T	uc001tmp.3	-	11	2824	c.2387C>A	c.(2386-2388)tCt>tAt	p.S796Y	PRDM4_uc001tmq.3_Non-coding_Transcript	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	Homo sapiens PR domain containing 4 (PRDM4), mRNA.	796					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGCAGAAAGAGACTCATCCGC	0.378000														138			13		1.37285e-15	1.75725e-15	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103496733	103496733	+	Missense_Mutation	SNP	C	A	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:103496733C>A	uc001dum.3	-	4	1037	c.719G>T	c.(718-720)aGt>aTt	p.S240I	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.S240I|COL11A1_uc001dun.3_Missense_Mutation_p.S240I|COL11A1_uc009weh.3_Missense_Mutation_p.S240I	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	240	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACAGTCTGGACTATAATGCTC	0.453000														34			5		0.00307968	0.00339827	1	1	0
SEPSECS	51091	broad.mit.edu	37	4	25125832	25125832	+	Silent	SNP	C	A	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr4:25125832C>A	uc003grg.3	-	10	1440	c.1227G>T	c.(1225-1227)ggG>ggT	p.G409G	SEPSECS_uc003gri.3_Silent_p.G408G|SEPSECS_uc003grh.3_Silent_p.G330G	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN	Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	409					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|tRNA binding|transferase activity, transferring selenium-containing groups			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	TTTGCATGGACCCAAGAGGCA	0.388000														46			7		0.0381472	0.0406904	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186114607	186114607	+	Missense_Mutation	SNP	G	A	A	rs111360184		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:186114607G>A	uc001grq.1	+	91	14568	c.14339G>A	c.(14338-14340)cGg>cAg	p.R4780Q	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R349Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4780	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R4780W(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGATGCGGCGGTACCGCACA	0.557000														50			25		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75930351	75930351	+	Silent	SNP	G	T	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr13:75930351G>T	uc001vjl.1	-	3	1554	c.1207C>A	c.(1207-1209)Cgg>Agg	p.R403R	TBC1D4_uc010aer.2_Silent_p.R403R|TBC1D4_uc010aes.2_Silent_p.R403R	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	403	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGAGACTCCCGGCAGATAAAG	0.413000														45			5		5.9392e-07	6.78766e-07	1	1	0
SIDT2	51092	broad.mit.edu	37	11	117058406	117058406	+	Missense_Mutation	SNP	G	A	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr11:117058406G>A	uc001pqg.2	+	11	1191	c.1150G>A	c.(1150-1152)Ggt>Agt	p.G384S	SIDT2_uc010rxe.1_Missense_Mutation_p.G384S|SIDT2_uc001pqh.1_Missense_Mutation_p.G384S|SIDT2_uc001pqi.1_Missense_Mutation_p.G388S	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.	384						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCTCTCTTACGGTTACCAGGG	0.592000														81			16		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113267520	113267520	+	Silent	SNP	T	A	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr8:113267520T>A	uc003ynu.3	-	61	10158	c.9999A>T	c.(9997-9999)gcA>gcT	p.A3333A	CSMD3_uc003yns.3_Silent_p.A2535A|CSMD3_uc003ynt.3_Silent_p.A3293A|CSMD3_uc011lhx.2_Silent_p.A3164A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3333	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTGCCATCTGCTTGACATA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				72			34		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023341	52023341	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr19:52023341T>A	uc002pwy.3	-	7	1565	c.1357A>T	c.(1357-1359)Aag>Tag	p.K453*	SIGLEC6_uc002pwz.3_Nonsense_Mutation_p.K437*|SIGLEC6_uc010ydb.2_Nonsense_Mutation_p.K401*|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_3'UTR|SIGLEC6_uc010eoz.2_3'UTR	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	453					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATTCCTCACTTGTGTATCTTG	0.478000														114			8		0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43318854	43318854	+	Missense_Mutation	SNP	G	A	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:43318854G>A	uc002iin.3	+	13	1638	c.1438G>A	c.(1438-1440)Gtg>Atg	p.V480M	FMNL1_uc002iiq.3_Missense_Mutation_p.V58M|FMNL1_uc010dag.3_5'Flank|FMNL1_uc021tyj.1_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	480	Pro-rich.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GGAGCTGAAGGTGGAGGAGCT	0.682000														4			3		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553586	140553586	+	Silent	SNP	C	T	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr5:140553586C>T	uc003lit.3	+	0	1344	c.1170C>T	c.(1168-1170)ccC>ccT	p.P390P		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	390	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P390S(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGATGTCCCCTTCATCCTGA	0.473000														63			8		0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423522	33423522	+	Silent	SNP	G	A	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:33423522G>A	uc003oeq.3	+	1	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E	ZBTB9_uc021ywp.1_Silent_p.E215E	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552000														97			3		0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17721595	17721595	+	Missense_Mutation	SNP	G	A	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:17721595G>A	uc002gru.2	-	5	1356	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	SREBF1_uc002grp.2_5'UTR|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.R134C|SREBF1_uc002grs.2_Missense_Mutation_p.R364C|SREBF1_uc002grt.2_Missense_Mutation_p.R418C|SREBF1_uc010cpp.1_Missense_Mutation_p.R364C|SREBF1_uc010cpq.1_Missense_Mutation_p.R388C	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	388	Interaction with LMNA (By similarity).|Leucine-zipper.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						ACAGCAGTGCGCAGACTTAGG	0.542000														121			4		0	0	1	0	0
KRR1	11103	broad.mit.edu	37	12	75902108	75902108	+	Missense_Mutation	SNP	C	A	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:75902108C>A	uc001sxt.3	-	1	245	c.204G>T	c.(202-204)agG>agT	p.R68S	KRR1_uc009zsc.3_Missense_Mutation_p.R68S|KRR1_uc010stx.2_Missense_Mutation_p.R68S	NM_007043	NP_008974	Q13601	KRR1_HUMAN	Homo sapiens KRR1, small subunit (SSU) processome component, homolog (yeast) (KRR1), mRNA.	68					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AGTAAGCTTCCCTGTATTTTG	0.413000														60			13		1.5739e-10	1.9371e-10	1	1	0
EXD2	55218	broad.mit.edu	37	14	69707775	69707775	+	Silent	SNP	G	C	C			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr14:69707775G>C	uc001xky.3	+	9	2070	c.1824G>C	c.(1822-1824)ctG>ctC	p.L608L	EXD2_uc001xkt.3_Silent_p.L483L|EXD2_uc001xkv.3_Silent_p.L608L|EXD2_uc001xkw.3_Silent_p.L483L|EXD2_uc001xku.3_Silent_p.L353L|EXD2_uc001xkx.3_Silent_p.L483L|EXD2_uc010aqt.3_Silent_p.L608L|EXD2_uc010tte.2_Silent_p.L608L	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	483					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						ATCAGAAGCTGCTCCGGAAAT	0.567000														61			3		0	0	1	0	0
ZNF187	7741	broad.mit.edu	37	6	28244794	28244794	+	Missense_Mutation	SNP	G	T	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:28244794G>T	uc011dlc.2	+	4	1628	c.1358G>T	c.(1357-1359)aGt>aTt	p.S453I	ZNF187_uc003nku.4_Missense_Mutation_p.S319I|ZNF187_uc003nkw.4_Missense_Mutation_p.S300I|ZNF187_uc011dle.2_Missense_Mutation_p.S300I|ZNF187_uc011dlf.2_Missense_Mutation_p.S245I|ZNF187_uc011dld.2_Missense_Mutation_p.S452I|ZNF187_uc011dlg.2_Missense_Mutation_p.S300I	NM_001023560	NP_001018854	Q16670	ZN187_HUMAN	Homo sapiens zinc finger protein 187 (ZNF187), transcript variant a, mRNA.	453					viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TATCAGTGTAGTGAATGTGGA	0.423000														97			5		0.217242	0.217242	1	1	0
AASDH	132949	broad.mit.edu	37	4	57215792	57215792	+	Missense_Mutation	SNP	C	G	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr4:57215792C>G	uc003hbn.3	-	10	2278	c.2125G>C	c.(2125-2127)Gac>Cac	p.D709H	AASDH_uc010ihb.3_Missense_Mutation_p.D224H|AASDH_uc003hbo.3_Missense_Mutation_p.D609H|AASDH_uc011caa.2_Missense_Mutation_p.D556H|AASDH_uc011cab.2_Missense_Mutation_p.D224H|AASDH_uc010ihc.3_Missense_Mutation_p.D709H|AASDH_uc003hbp.3_Missense_Mutation_p.D709H	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	709					fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GAAACTGAGTCAGAAGGACAG	0.378000														81			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140778384	140778384	+	Silent	SNP	C	T	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr5:140778384C>T	uc003lkf.2	+	0	690	c.690C>T	c.(688-690)atC>atT	p.I230I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.I230I	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	230	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCCGGATCCAGGTAACCG	0.547000														201			34		0	0	1	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30297528	30297528	+	Missense_Mutation	SNP	A	G	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:30297528A>G	uc010jrz.3	+	2	746	c.434A>G	c.(433-435)gAt>gGt	p.D145G	HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39-RPP21_uc003npz.3_Missense_Mutation_p.D145G|TRIM39-RPP21_uc003nqb.3_Missense_Mutation_p.D145G|TRIM39-RPP21_uc003nqc.3_Missense_Mutation_p.D145G|TRIM39-RPP21_uc010jsa.2_Missense_Mutation_p.D145G	NM_021253	NP_067076	A6ZJ12	A6ZJ12_HUMAN	Homo sapiens tripartite motif containing 39 (TRIM39), transcript variant 1, mRNA.	57						intracellular	zinc ion binding										CCACTGGACGATGCTACACAG	0.542000														67			7		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791321	237791321	+	Silent	SNP	G	A	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:237791321G>A	uc001hyl.1	+	40	6501	c.6381G>A	c.(6379-6381)cgG>cgA	p.R2127R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2127	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCAGATTCGGTCCCTGCTGA	0.483000														70			3		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				128			83		9.34078e-37	1.24544e-36	1	1	0
RAB5C	5878	broad.mit.edu	37	17	40282394	40282394	+	Missense_Mutation	SNP	T	G	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:40282394T>G	uc010cxx.3	-	2	583	c.226A>C	c.(226-228)Aag>Cag	p.K76Q	RAB5C_uc002hyz.3_Missense_Mutation_p.K43Q|RAB5C_uc002hza.3_Missense_Mutation_p.K43Q	NM_001252039	NP_001238968	P51148	RAB5C_HUMAN	Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA.	43					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AACTGTCCCTTGACAAAGCGG	0.547000														94			23		0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139751442	139751442	+	Missense_Mutation	SNP	G	A	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr9:139751442G>A	uc004cjs.3	+	15	1971	c.1921G>A	c.(1921-1923)Gca>Aca	p.A641T	MAMDC4_uc011mej.2_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	720	MAM 3.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGTGCCAGCAGCACCCACGGA	0.687000														62			3		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92706034	92706034	+	Missense_Mutation	SNP	G	A	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr15:92706034G>A	uc002bqx.2	+	9	2003	c.1802G>A	c.(1801-1803)tGc>tAc	p.C601Y	SLCO3A1_uc002bqy.2_Missense_Mutation_p.C601Y|SLCO3A1_uc002bqz.1_Missense_Mutation_p.C543Y	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	601					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GACTCCACCTGCCTGTTCTGG	0.572000														90			4		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309215	248309215	+	Missense_Mutation	SNP	T	A	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:248309215T>A	uc010pze.2	+	0	766	c.766T>A	c.(766-768)Ttg>Atg	p.L256M		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGAGCAGGTTTGTTCATGTA	0.507000														202			82		0	0	1	0	0
