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
ELAC2	60528	broad.mit.edu	37	17	12920190	12920190	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:12920190C>T	ENST00000338034.4	-	3	595	c.356G>A	c.(355-357)gGg>gAg	p.G119E	ELAC2_ENST00000578071.1_5'UTR|ELAC2_ENST00000395962.2_Missense_Mutation_p.G100E|ELAC2_ENST00000426905.3_Missense_Mutation_p.G119E	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	119					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						ACTTAAGCCCCCAACATTAGA	0.438000													16	47					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164757760	164757760	+	Splice_Site	SNP	C	C	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:164757760C>A	ENST00000264382.3	-	19	2222		c.e19-1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTCATAAAACCTAAGAACAAT	0.353000										HNSCC(35;0.089)			22	52					1.96292e-10	1.99797e-10	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186114591	186114591	+	Missense_Mutation	SNP	G	G	A	rs147296385		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:186114591G>A	ENST00000271588.4	+	92	14552	c.14323G>A	c.(14323-14325)Gga>Aga	p.G4775R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4775R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4775	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			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						GACGTGTAACGGAGGGCAGAT	0.552000													23	35					0	0	1	0	0
STATH	6779	broad.mit.edu	37	4	70865507	70865507	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr4:70865507G>A	ENST00000246895.4	+	4	194	c.83G>A	c.(82-84)cGt>cAt	p.R28H	STATH_ENST00000381060.2_Intron	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	28			Missing (in statherin variants SV2 and SV3).		biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			lung(2)|skin(1)	3						AAATTTTTGCGTAGAATTGGA	0.313000													7	27					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201035428	201035428	+	Missense_Mutation	SNP	C	C	T	rs146823170		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:201035428C>T	ENST00000362061.3	-	21	2900	c.2674G>A	c.(2674-2676)Gtg>Atg	p.V892M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V892M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	892					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATCTTCACCACGGAGATGGCA	0.662000													13	48					0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167042732	167042732	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:167042732C>T	ENST00000367868.3	-	2	431	c.88G>A	c.(88-90)Gtt>Att	p.V30I	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	30	Ig-like V-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GCCCGAAGAACGTCCTGCGGA	0.547000													8	19					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156437435	156437435	+	Silent	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr7:156437435G>A	ENST00000392741.2	+	2	346	c.258G>A	c.(256-258)ccG>ccA	p.P86P	RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000432459.2_Silent_p.P86P|RNF32_ENST00000405335.1_Silent_p.P86P|RNF32_ENST00000392740.1_Silent_p.P86P|RNF32_ENST00000392743.2_Silent_p.P86P|RNF32_ENST00000343665.4_Silent_p.P86P|RNF32_ENST00000317955.5_Silent_p.P86P|RNF32_ENST00000311822.8_Silent_p.P86P			Q9H0A6	RNF32_HUMAN	ring finger protein 32	86						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATCCCAAACCGCCGCCGTTGA	0.343000													25	119					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738982	102738982	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr10:102738982T>C	ENST00000210633.3	+	8	1015	c.937T>C	c.(937-939)Tca>Cca	p.S313P	SEMA4G_ENST00000370250.4_Missense_Mutation_p.S313P|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_3'UTR|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.S313P|SEMA4G_ENST00000519756.1_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	313	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TGCTGAAACCTCAAGCCGTAC	0.557000													3	48					0	0	1	0	0
TERF2IP	54386	broad.mit.edu	37	16	75690356	75690356	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr16:75690356C>G	ENST00000300086.4	+	3	1144	c.1047C>G	c.(1045-1047)ttC>ttG	p.F349L		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	349					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTTCCGCCTTCTTAGCGTCTG	0.443000													5	245					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39308393	39308393	+	Silent	SNP	T	T	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr5:39308393T>C	ENST00000263408.4	-	8	1274	c.1179A>G	c.(1177-1179)gaA>gaG	p.E393E		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	393	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CAACAGAGATTTCAGAGAAAG	0.358000													28	45					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	59284544	59284544	+	Splice_Site	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr5:59284544C>T	ENST00000502484.2	-	3	266	c.42_splice	c.e3-1	p.A15_splice	PDE4D_ENST00000546160.1_Splice_Site_p.A15_splice	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TCCTCAGAGGCCTGAGGTAAT	0.373000													16	34					0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7320334	7320334	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:7320334G>A	ENST00000302926.2	+	7	1797	c.1724G>A	c.(1723-1725)aGc>aAc	p.S575N	NLGN2_ENST00000575301.1_Missense_Mutation_p.S575N	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	575					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				AAATTCAACAGCAAGGAGAAG	0.597000													3	27					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16667394	16667394	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:16667394G>A	ENST00000443444.2	+	15	4143	c.4003G>A	c.(4003-4005)Gtt>Att	p.V1335I	CCDC144A_ENST00000360524.8_Missense_Mutation_p.V1335I|CCDC144A_ENST00000456009.1_Missense_Mutation_p.V1101I|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.V1335I|CCDC144A_ENST00000399273.1_Missense_Mutation_p.V1335I			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1335																	GTCACCTTGCGTTGGAAATCT	0.433000													10	40					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323500	29323500	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:29323500A>G	ENST00000377154.1	-	4	772	c.473T>C	c.(472-474)gTg>gCg	p.V158A	OR5V1_ENST00000543825.1_Missense_Mutation_p.V158A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CACTGTATGCACCACTGAGTT	0.443000													21	42					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	44					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38645093	38645093	+	Missense_Mutation	SNP	C	C	T	rs140343246		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:38645093C>T	ENST00000254051.6	-	3	726	c.568G>A	c.(568-570)Gtc>Atc	p.V190I		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	190	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCTCGGGGGACGTCTCTGGAA	0.667000													26	60					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156876623	156876623	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:156876623G>A	ENST00000338302.3	+	7	820	c.595G>A	c.(595-597)Gat>Aat	p.D199N	PEAR1_ENST00000292357.7_Missense_Mutation_p.D199N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	199						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCACCCTGCGATCCCCAGAC	0.622000													15	32					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2613704	2613704	+	Splice_Site	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr12:2613704G>A	ENST00000406454.3	+	8	1216	c.1217_splice	c.e8+1	p.G406_splice	CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399617.1_Splice_Site_p.G406_splice|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399641.1_Splice_Site_p.G406_splice|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399603.1_Splice_Site_p.G406_splice|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399634.1_Splice_Site_p.G406_splice|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399649.1_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	406			G -> R (in TS; causes a nearly complete loss of voltage-dependent channel inactivation).		axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGTGTTGAGCGGGTAAGCTGA	0.537000													18	45					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98530949	98530949	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr7:98530949C>T	ENST00000359863.4	+	27	4147	c.3938C>T	c.(3937-3939)aCg>aTg	p.T1313M	TRRAP_ENST00000355540.3_Missense_Mutation_p.T1313M|TRRAP_ENST00000446306.3_Missense_Mutation_p.T1312M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1313					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGGGAACACGTTCTGTACC	0.587000													7	38					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30602641	30602641	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr10:30602641A>C	ENST00000358107.4	-	10	2035	c.2036T>G	c.(2035-2037)tTt>tGt	p.F679C	MTPAP_ENST00000263063.3_Missense_Mutation_p.F549C|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	549					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCAATTGCAAACTTATTGCT	0.393000													18	33					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813468	248813468	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:248813468T>G	ENST00000344889.3	-	1	717	c.718A>C	c.(718-720)Acc>Ccc	p.T240P		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGAGCAGGTGGCCACAGCC	0.532000													5	16					0	0	1	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249681	3249681	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr11:3249681C>T	ENST00000389832.5	-	2	655	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	MRGPRE_ENST00000436689.2_Missense_Mutation_p.V116I|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	116						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCACGCTGACGGCCGCCAGG	0.687000													9	23					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248085070	248085070	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:248085070G>A	ENST00000319968.4	+	1	751	c.751G>A	c.(751-753)Gga>Aga	p.G251R		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACTCTTTTATGGAGCTGCCAT	0.493000													17	29					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184843	130184843	+	Silent	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr12:130184843G>A	ENST00000422113.2	-	2	806	c.480C>T	c.(478-480)agC>agT	p.S160S		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	160						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTCCCCGGCGCTGCGGTCGT	0.642000													13	21					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219259397	219259397	+	Silent	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr2:219259397C>T	ENST00000233202.6	+	14	1771	c.1431C>T	c.(1429-1431)tgC>tgT	p.C477C	SLC11A1_ENST00000539932.1_Silent_p.C359C	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	477					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTAGTCTGCGCCATCAACC	0.617000													12	88					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90472240	90472240	+	Silent	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:90472240C>T	ENST00000369393.3	-	16	2269	c.2154G>A	c.(2152-2154)ccG>ccA	p.P718P	MDN1_ENST00000428876.1_Silent_p.P718P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	718					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TATGGTCCACCGGTTTATAAC	0.413000													11	40					0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73579488	73579488	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr10:73579488C>T	ENST00000394936.3	-	10	1322	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	PSAP_ENST00000394934.1_Missense_Mutation_p.R394Q			P07602	SAP_HUMAN	prosaposin	392	Saposin B-type 3.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TGCAGGCAGCCGCGTGCCAGA	0.677000													13	16					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307575	39307575	+	Silent	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:39307575G>A	ENST00000541347.1	-	2	665	c.426C>T	c.(424-426)acC>acT	p.T142T	CX3CR1_ENST00000399220.2_Silent_p.T142T|CX3CR1_ENST00000358309.3_Silent_p.T174T|CX3CR1_ENST00000542107.1_Silent_p.T142T	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	142					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CATGCTGCACGGTCCGGTTGT	0.522000													18	61					0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368400	27368400	+	Missense_Mutation	SNP	C	C	T	rs766091		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:27368400C>T	ENST00000244576.4	+	3	796	c.251C>T	c.(250-252)cCa>cTa	p.P84L		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						CATGGATCCCCAATATCTAGG	0.378000													3	60					0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85656622	85656622	+	Nonsense_Mutation	SNP	C	C	T	rs141263963		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr15:85656622C>T	ENST00000310298.4	+	14	1381	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Nonsense_Mutation_p.R377*|PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R305*|PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R331*			O60658	PDE8A_HUMAN	phosphodiesterase 8A	377					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CAGCCAGAGACGACACTCTTC	0.537000													21	78					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45432836	45432836	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr14:45432836C>G	ENST00000361462.2	+	1	1395	c.1212C>G	c.(1210-1212)gaC>gaG	p.D404E	FAM179B_ENST00000361577.3_Missense_Mutation_p.D404E|FAM179B_ENST00000382233.2_Missense_Mutation_p.D404E			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	404							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATTTGTTAGACGATTCTAACT	0.423000													23	26					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235509	127235509	+	Missense_Mutation	SNP	G	G	A	rs35505193	byFrequency	TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr7:127235509G>A	ENST00000265825.5	+	2	512	c.293G>A	c.(292-294)cGt>cAt	p.R98H	FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_3'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	98						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TTTCTACTGCGTTTCCACCGG	0.557000													14	37					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7949214	7949214	+	Silent	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr18:7949214C>T	ENST00000332175.8	+	6	1736	c.699C>T	c.(697-699)atC>atT	p.I233I	PTPRM_ENST00000400053.4_Silent_p.I171I|PTPRM_ENST00000400060.4_Silent_p.I233I|PTPRM_ENST00000580170.1_Silent_p.I233I|PTPRM_ENST00000444013.1_Silent_p.I20I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	233	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGAAGGAAATCAAGGTGACCA	0.473000													12	64					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91229626	91229626	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr4:91229626G>A	ENST00000509176.1	+	2	479	c.191G>A	c.(190-192)cGt>cAt	p.R64H	CCSER1_ENST00000333691.8_Missense_Mutation_p.R64H|CCSER1_ENST00000432775.2_Missense_Mutation_p.R64H	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		AGCATATTCCGTACTCCTTCC	0.478000													14	41					0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73441468	73441468	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr2:73441468T>C	ENST00000389501.4	+	1	119	c.74T>C	c.(73-75)gTc>gCc	p.V25A		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	25							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TCCGTGGAAGTCCGTTTCGTG	0.716000													55	142					0	0	1	0	0
LCE3A	353142	broad.mit.edu	37	1	152595412	152595412	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:152595412C>A	ENST00000335674.1	-	1	167	c.168G>T	c.(166-168)agG>agT	p.R56S		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	56					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACGGTGAGACCTGCGGCATC	0.652000													20	52					1.33834e-09	1.33834e-09	1	1	0
EDAR	10913	broad.mit.edu	37	2	109527350	109527350	+	Silent	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr2:109527350G>A	ENST00000409271.1	-	8	1151	c.708C>T	c.(706-708)ccC>ccT	p.P236P	EDAR_ENST00000376651.1_Silent_p.P236P|EDAR_ENST00000258443.2_Intron			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTCCGACAGGGGGAGTTGACG	0.637000													11	16					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68947217	68947217	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:68947217C>T	ENST00000456315.2	-	9	1955	c.1841G>A	c.(1840-1842)cGt>cAt	p.R614H	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R330H|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	614	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGCTTTCTACGATTTGGTGG	0.423000													8	18					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76903158	76903158	+	Silent	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr11:76903158C>T	ENST00000409709.3	+	31	4259	c.3987C>T	c.(3985-3987)taC>taT	p.Y1329Y	MYO7A_ENST00000458637.2_Silent_p.Y1329Y|MYO7A_ENST00000409619.2_Silent_p.Y1318Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1329	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCGAGCAGTACGCCAAGGAGC	0.667000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	25					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25215976	25215976	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:25215976C>G	ENST00000404969.1	+	1	88	c.88C>G	c.(88-90)Cca>Gca	p.P30A				P10826	RARB_HUMAN	retinoic acid receptor, beta	30	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GTTACTCTTTCCACCTGTCAT	0.607000													31	66					0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123201016	123201016	+	Missense_Mutation	SNP	C	C	T	rs116848458	by1000genomes	TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr12:123201016C>T	ENST00000528880.2	-	1	423	c.269G>A	c.(268-270)cGt>cAt	p.R90H	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	90						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	CCAGTCTGAACGCCGCACATA	0.537000													11	22					0	0	1	0	0
PCDHGB3	0	broad.mit.edu	37	5	140751398	140751398	+	Silent	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr5:140751398C>T	ENST00000576222.1	+	1	1568	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCGGATCCCGACTTGGGAC	0.617000													38	59					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148756906	148756906	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:148756906A>C	ENST00000310053.5	-	23	2919	c.2726T>G	c.(2725-2727)cTt>cGt	p.L909R	HLTF_ENST00000392912.2_Missense_Mutation_p.L909R|HLTF_ENST00000494055.1_Missense_Mutation_p.L909R|HLTF_ENST00000465259.1_Missense_Mutation_p.L908R	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	909	Helicase C-terminal.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TAAGGACAGAAGCATTATAGT	0.378000													7	24					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89890145	89890145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:89890145C>T	ENST00000435811.1	-	8	1415	c.961G>A	c.(961-963)Gtc>Atc	p.V321I	GABRR1_ENST00000369451.3_Missense_Mutation_p.V251I|GABRR1_ENST00000454853.2_Missense_Mutation_p.V338I	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	338					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATGTAGGAGACGCGCGGCATG	0.537000													18	31					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1576707	1576707	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:1576707G>A	ENST00000572621.1	-	22	3866	c.3601C>T	c.(3601-3603)Cgc>Tgc	p.R1201C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1201C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1201						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TAGCTGGTGCGGCACTTAGGC	0.577000													11	38					0	0	1	0	0
AQPEP	0	broad.mit.edu	37	5	115319115	115319115	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr5:115319115T>C	ENST00000357872.4	+	2	951	c.827T>C	c.(826-828)aTg>aCg	p.M276T	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		276					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CTTTCCAACATGCCAAAGCTA	0.368000													13	19					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20396139	20396139	+	Silent	SNP	C	C	T			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr16:20396139C>T	ENST00000302451.4	-	3	485	c.237G>A	c.(235-237)gcG>gcA	p.A79A		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	79					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CCAGCTCTTCCGCCAAGTTCC	0.483000													104	225					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170394	90170394	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr4:90170394G>A	ENST00000333209.3	-	2	1386	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	290										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GACATCTGACGCTGTGCTGGC	0.562000													44	92					0	0	1	0	0
ELMOD2	255520	broad.mit.edu	37	4	141446584	141446587	+	Translation_Start_Site	DEL	TGTT	TGTT	-			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr4:141446584_141446587delTGTT	ENST00000323570.3	+	0	134_137					NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2						phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					GAAAAAAAAATGTTTATTTCTTTG	0.324													47	122	---	---	---	---					
GS1-124K5.2	0	broad.mit.edu	37	7	65888987	65888987	+	RNA	DEL	C	C	-	rs77289928		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr7:65888987delC	ENST00000442578.1	-	0	826																											Ctttttttttctttttttttt	0.483													4	6	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29550493	29550497	+	Frame_Shift_Del	DEL	TTAAC	TTAAC	-			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:29550493_29550497delTTAAC	ENST00000358273.4	+	16	2136_2140	c.1753_1757delTTAAC	c.(1753-1758)tfs	p.LT585fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LT585fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	585					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCAAGAAATTAACTAGTCATCAA	0.327			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			15	47	---	---	---	---