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
PLEC	5339	broad.mit.edu	37	8	144992057	144992057	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr8:144992057C>T	ENST00000322810.4	-	32	12512	c.12343G>A	c.(12343-12345)Gac>Aac	p.D4115N	PLEC_ENST00000398774.2_Missense_Mutation_p.D3946N|PLEC_ENST00000436759.2_Missense_Mutation_p.D4005N|PLEC_ENST00000354958.2_Missense_Mutation_p.D3956N|PLEC_ENST00000345136.3_Missense_Mutation_p.D3978N|PLEC_ENST00000356346.3_Missense_Mutation_p.D3964N|PLEC_ENST00000354589.3_Missense_Mutation_p.D3978N|PLEC_ENST00000357649.2_Missense_Mutation_p.D3982N|PLEC_ENST00000527096.1_Missense_Mutation_p.D4001N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4115	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGATGGGGTCGATGACGTAA	0.647000													15	30					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29762806	29762806	+	Silent	SNP	C	C	T	rs139597633		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr10:29762806C>T	ENST00000375398.2	-	32	5939	c.5490G>A	c.(5488-5490)gcG>gcA	p.A1830A	PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000355867.4_Silent_p.A1830A|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Silent_p.A1404A|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Silent_p.A744A			O95425	SVIL_HUMAN	supervillin	1830					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCGTCATCAGCGCCGACGTGC	0.647000													15	21					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48164408	48164408	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr20:48164408C>T	ENST00000244043.4	-	3	376	c.347G>A	c.(346-348)aGc>aAc	p.S116N	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	116					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	ATCACTGGGGCTGTAATGTGG	0.562000													101	151					0	0	1	0	0
SLC39A14	23516	broad.mit.edu	37	8	22267520	22267520	+	Silent	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr8:22267520C>T	ENST00000359741.5	+	4	694	c.519C>T	c.(517-519)ctC>ctT	p.L173L	SLC39A14_ENST00000381237.1_Intron|SLC39A14_ENST00000240095.6_Intron|SLC39A14_ENST00000289952.5_Intron	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	173						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TGGGAGTCCTCGTCCTGCCCT	0.532000													59	97					0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29135786	29135786	+	Silent	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:29135786C>T	ENST00000409850.1	-	8	982	c.336G>A	c.(334-336)ccG>ccA	p.P112P	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000396276.3_Silent_p.P112P|CPVL_ENST00000265394.5_Silent_p.P112P			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	112					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATGAACCTCCCGGCCCACCCT	0.463000													67	114					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51457789	51457789	+	Missense_Mutation	SNP	T	T	C			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:51457789T>C	ENST00000335891.5	-	7	1297	c.1288A>G	c.(1288-1290)Act>Gct	p.T430A				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	879					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GAGGCAGCAGTCATGGGCAGG	0.512000													8	77					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													5	112					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57194423	57194423	+	Silent	SNP	T	T	C			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:57194423T>C	ENST00000331162.4	-	3	312	c.42A>G	c.(40-42)ggA>ggG	p.G14G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATGTCAACAGTCCCTGGAAAA	0.398000													36	53					0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62631312	62631312	+	Missense_Mutation	SNP	T	T	G			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr10:62631312T>G	ENST00000337910.5	-	11	2356	c.2019A>C	c.(2017-2019)gaA>gaC	p.E673D	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E673D|RHOBTB1_ENST00000490827.1_5'UTR	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	673					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GTGCAATATCTTCCTTCTCTC	0.478000													47	67					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129070740	129070740	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr5:129070740C>T	ENST00000274487.4	+	22	3555	c.3410C>T	c.(3409-3411)cCa>cTa	p.P1137L	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1137	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCATACAGGCCATGCCATCTT	0.393000													29	60					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41000616	41000616	+	Missense_Mutation	SNP	G	G	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chrX:41000616G>T	ENST00000324545.7	+	9	1726	c.1093G>T	c.(1093-1095)Gta>Tta	p.V365L	USP9X_ENST00000378308.2_Missense_Mutation_p.V365L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	365					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GATATCTAGTGTATCATACTA	0.353000													16	8					4.7546e-09	4.98844e-09	1	1	0
ZNF107	51427	broad.mit.edu	37	7	64168665	64168665	+	Missense_Mutation	SNP	G	G	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:64168665G>T	ENST00000395391.1	+	4	3358	c.1983G>T	c.(1981-1983)gaG>gaT	p.E661D	ZNF107_ENST00000344930.3_Missense_Mutation_p.E661D|ZNF107_ENST00000423627.1_Missense_Mutation_p.E661D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ATACTGGAGAGAAACCTTACA	0.378000													20	31					8.34094e-07	8.47333e-07	1	1	0
TRAPPC9	83696	broad.mit.edu	37	8	141445299	141445299	+	Silent	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr8:141445299G>A	ENST00000389328.4	-	4	1079	c.1065C>T	c.(1063-1065)caC>caT	p.H355H	TRAPPC9_ENST00000438773.2_Silent_p.H257H|TRAPPC9_ENST00000389327.3_Silent_p.H257H	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	257					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CACCAGGATAGTGATAGATGA	0.493000													17	35					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202348	248202348	+	Missense_Mutation	SNP	G	G	A	rs138166879		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr1:248202348G>A	ENST00000366479.2	+	1	875	c.779G>A	c.(778-780)cGt>cAt	p.R260H	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			ACCTATGTACGTCCAAGATCC	0.493000													48	61					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11280805	11280805	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr19:11280805C>T	ENST00000432929.2	-	11	2715	c.2355G>A	c.(2353-2355)atG>atA	p.M785I	KANK2_ENST00000586659.1_Missense_Mutation_p.M777I|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000589894.1_Missense_Mutation_p.M777I|KANK2_ENST00000355150.5_Missense_Mutation_p.M777I|KANK2_ENST00000589359.1_Missense_Mutation_p.M785I	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	777										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CACAGGCGCACATGAGGGCCG	0.637000													40	22					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134911542	134911542	+	Silent	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:134911542G>A	ENST00000398015.3	+	11	2377	c.2007G>A	c.(2005-2007)gcG>gcA	p.A669A	EPHB1_ENST00000493838.1_Silent_p.A230A	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	669	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGAGTGAGGCGAGCATCATGG	0.547000													24	27					0	0	1	0	0
C8orf46	254778	broad.mit.edu	37	8	67428270	67428270	+	Missense_Mutation	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr8:67428270G>A	ENST00000305454.3	+	6	1024	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	C8orf46_ENST00000522977.1_3'UTR	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	195										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GAAGAAGTCTGAATATGTGGG	0.567000													12	20					0	0	1	0	0
KAAG1	353219	broad.mit.edu	37	6	24358006	24358006	+	Missense_Mutation	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr6:24358006G>A	ENST00000274766.1	+	1	876	c.139G>A	c.(139-141)Gct>Act	p.A47T	DCDC2_ENST00000378454.3_5'UTR	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	47					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						GCCTCAGCTCGCTGCTTCGCG	0.672000													3	28					0	0	1	0	0
UBOX5	22888	broad.mit.edu	37	20	3095970	3095970	+	Missense_Mutation	SNP	C	C	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr20:3095970C>A	ENST00000217173.2	-	4	1869	c.1398G>T	c.(1396-1398)tgG>tgT	p.W466C	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	466						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TGCCAGGCCTCCAGGAAGTGT	0.622000											OREG0025729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	22					0.00152264	0.00152264	1	1	0
KIF15	56992	broad.mit.edu	37	3	44881850	44881850	+	Missense_Mutation	SNP	A	A	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:44881850A>T	ENST00000326047.4	+	28	3471	c.3322A>T	c.(3322-3324)Aac>Tac	p.N1108Y	KIF15_ENST00000425755.1_Missense_Mutation_p.N743Y	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1108					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTCCCAGCTAAACCAAAAGAA	0.388000													23	27					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9578275	9578275	+	Silent	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr17:9578275C>T	ENST00000285199.6	+	4	904	c.808C>T	c.(808-810)Cta>Tta	p.L270L	USP43_ENST00000570475.1_Silent_p.L270L|USP43_ENST00000570827.2_5'UTR|USP43_ENST00000575346.1_3'UTR	NM_153210.4	NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	270					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTGTGTGTCCCTACCTATCCC	0.532000													137	40					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208402	106208402	+	RNA	SNP	C	C	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr14:106208402C>A	ENST00000390548.2	-	0	497																											CATTATGCACCTCCACGCCGT	0.602000													102	323					4.04957e-52	4.46849e-52	1	1	0
FBLN2	2199	broad.mit.edu	37	3	13672897	13672897	+	Missense_Mutation	SNP	T	T	C			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:13672897T>C	ENST00000404922.3	+	16	3273	c.3154T>C	c.(3154-3156)Tac>Cac	p.Y1052H	FBLN2_ENST00000295760.7_Missense_Mutation_p.Y1005H|FBLN2_ENST00000535798.1_Missense_Mutation_p.Y1031H|FBLN2_ENST00000492059.1_Missense_Mutation_p.Y1052H	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1033	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCCAGGGAGCTACCAGTGTGC	0.642000													6	10					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33512485	33512485	+	Missense_Mutation	SNP	C	C	T	rs149250532	by1000genomes	TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr19:33512485C>T	ENST00000254260.3	-	4	417	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	RHPN2_ENST00000400226.4_Intron	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	128	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					ACCTTGAGGACGACTGCAAAG	0.478000													26	35					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74387543	74387543	+	Silent	SNP	G	G	A	rs150209609		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr17:74387543G>A	ENST00000319380.7	-	18	3424	c.3360C>T	c.(3358-3360)ccC>ccT	p.P1120P		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1120							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CAAAGACCTCGGGGGGCCGCC	0.602000													56	13					0	0	1	0	0
ISOC2	79763	broad.mit.edu	37	19	55966722	55966722	+	Silent	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr19:55966722C>T	ENST00000085068.3	-	4	508	c.372G>A	c.(370-372)ttG>ttA	p.L124L	ISOC2_ENST00000438389.2_Intron|ISOC2_ENST00000425675.2_Intron	NM_001136201.1|NM_024710.2	NP_001129673.1|NP_078986.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	116					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		AGGTCAGGGCCAACCCCGGAT	0.617000													13	23					0	0	1	0	0
MMP14	4323	broad.mit.edu	37	14	23311835	23311835	+	Silent	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr14:23311835G>A	ENST00000311852.6	+	4	858	c.597G>A	c.(595-597)ctG>ctA	p.L199L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	199						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GCGGCTTCCTGGCCCATGCCT	0.582000													4	92					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193125105	193125105	+	Silent	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:193125105G>A	ENST00000342695.4	-	29	3697	c.3375C>T	c.(3373-3375)gcC>gcT	p.A1125A	ATP13A4_ENST00000400270.2_Silent_p.A141A|ATP13A4_ENST00000392443.3_Silent_p.A1106A|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1125					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.A1125A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CACTTACCTCGGCCACAAGGG	0.522000													16	22					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	25					0	0	1	0	0
PDK3	5165	broad.mit.edu	37	X	24512955	24512955	+	Missense_Mutation	SNP	C	C	G			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chrX:24512955C>G	ENST00000441463.2	+	2	203	c.203C>G	c.(202-204)cCg>cGg	p.P68R	PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Missense_Mutation_p.P68R	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	68					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.P68R(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AATCTTCTGCCGGATAATTTA	0.408000													33	7					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8620216	8620216	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr4:8620216C>T	ENST00000429646.2	+	8	3181	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CPZ_ENST00000382480.2_Missense_Mutation_p.R385W|CPZ_ENST00000315782.6_Missense_Mutation_p.R511W|CPZ_ENST00000360986.4_Missense_Mutation_p.R522W			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	522	FZ.		Q -> L (in dbSNP:rs35993494).		proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAAAACGCCCGGATCTCAGT	0.592000													21	33					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38648250	38648250	+	Silent	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:38648250G>A	ENST00000413689.1	-	9	1243	c.1050C>T	c.(1048-1050)caC>caT	p.H350H	SCN5A_ENST00000425664.1_Silent_p.H350H|SCN5A_ENST00000451551.2_Silent_p.H350H|SCN5A_ENST00000423572.2_Silent_p.H350H|SCN5A_ENST00000414099.2_Silent_p.H350H|SCN5A_ENST00000455624.2_Silent_p.H350H|SCN5A_ENST00000333535.4_Silent_p.H350H|SCN5A_ENST00000450102.2_Silent_p.H350H|SCN5A_ENST00000449557.2_Silent_p.H350H|SCN5A_ENST00000443581.1_Silent_p.H350H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	350					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGGTGTAGCCGTGGTCGGGGT	0.602000													30	45					0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164507013	164507013	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr4:164507013C>T	ENST00000503008.1	-	6	1287	c.311G>A	c.(310-312)cGc>cAc	p.R104H	MARCH1_ENST00000514618.1_Missense_Mutation_p.R360H|MARCH1_ENST00000274056.7_Missense_Mutation_p.R104H|MARCH1_ENST00000339875.5_Missense_Mutation_p.R87H	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	104					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTGGACAAAGCGCAGTGTCCC	0.527000													31	38					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52115352	52115352	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr12:52115352C>T	ENST00000354534.5	+	12	1836	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L	SCN8A_ENST00000545061.1_Missense_Mutation_p.S553L|SCN8A_ENST00000550891.1_Missense_Mutation_p.S553L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	553					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATCCCAGGCTCGCCCTTCCTC	0.592000													3	5					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6048644	6048644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:6048644G>A	ENST00000265849.7	-	1	112	c.7C>T	c.(7-9)Cga>Tga	p.R3*	PMS2_ENST00000469652.1_5'UTR|PMS2_ENST00000406569.3_Nonsense_Mutation_p.R3*|PMS2_ENST00000382321.4_Nonsense_Mutation_p.R3*	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	3					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTCTCAGCTCGCTCCATGGAT	0.647000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				41	49					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100906852	100906852	+	Missense_Mutation	SNP	A	A	C			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr2:100906852A>C	ENST00000393437.3	-	10	2427	c.1788T>G	c.(1786-1788)atT>atG	p.I596M	LONRF2_ENST00000409647.1_Missense_Mutation_p.I353M	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	596	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TCACGTCCTTAATCTCCAGCA	0.468000													38	62					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561861	145561861	+	Missense_Mutation	SNP	G	G	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr1:145561861G>T	ENST00000355594.4	+	10	1636	c.1549G>T	c.(1549-1551)Gtc>Ttc	p.V517F		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	517										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCAAGACCGGTCATGGAGGG	0.632000													62	116					1.02487e-32	1.11172e-32	1	1	0
CCDC51	79714	broad.mit.edu	37	3	48474071	48474071	+	Missense_Mutation	SNP	T	T	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:48474071T>A	ENST00000395694.2	-	4	1068	c.983A>T	c.(982-984)gAa>gTa	p.E328V	CCDC51_ENST00000412398.2_Missense_Mutation_p.E219V|CCDC51_ENST00000447018.1_Missense_Mutation_p.E219V|CCDC51_ENST00000442740.1_Missense_Mutation_p.E219V|CCDC51_ENST00000395696.1_Missense_Mutation_p.E328V	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	328						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACAAGTCTTTTCTAGGCCATC	0.517000													30	35					0	0	1	0	0
STK38L	23012	broad.mit.edu	37	12	27470897	27470897	+	Missense_Mutation	SNP	C	C	G			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr12:27470897C>G	ENST00000389032.3	+	11	1193	c.1024C>G	c.(1024-1026)Ctg>Gtg	p.L342V	STK38L_ENST00000539577.1_Missense_Mutation_p.L249V	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	342	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					GAAAGAAACTCTGGTATTTCC	0.363000													35	49					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73213435	73213435	+	Missense_Mutation	SNP	A	A	G			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr9:73213435A>G	ENST00000377110.2	-	20	3155	c.2912T>C	c.(2911-2913)gTc>gCc	p.V971A	TRPM3_ENST00000360823.2_Missense_Mutation_p.V833A|TRPM3_ENST00000396292.4_Missense_Mutation_p.V843A|TRPM3_ENST00000423814.3_Missense_Mutation_p.V998A|TRPM3_ENST00000377105.1_Missense_Mutation_p.V830A|TRPM3_ENST00000357533.2_Missense_Mutation_p.V975A|TRPM3_ENST00000408909.2_Missense_Mutation_p.V830A|TRPM3_ENST00000396280.5_Missense_Mutation_p.V820A|TRPM3_ENST00000358082.3_Missense_Mutation_p.V833A|TRPM3_ENST00000377111.2_Missense_Mutation_p.V971A|TRPM3_ENST00000396285.1_Missense_Mutation_p.V818A|TRPM3_ENST00000377106.1_Missense_Mutation_p.V843A	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	996						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCAGTAGATGACCCTCCCGTC	0.483000													61	14					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45725619	45725619	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:45725619C>T	ENST00000297323.7	+	13	2154	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	711					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTGGTCCTTTCGTCTGGGGGC	0.657000													13	25					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38111796	38111796	+	Missense_Mutation	SNP	G	G	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr22:38111796G>T	ENST00000406386.3	+	6	738	c.483G>T	c.(481-483)gaG>gaT	p.E161D	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	161					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAGGCAGGAGGAGGAGGCCC	0.592000													20	16					3.62473e-10	3.86638e-10	1	1	0
ZNF197	10168	broad.mit.edu	37	3	44683476	44683476	+	Missense_Mutation	SNP	A	A	G			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:44683476A>G	ENST00000396058.1	+	5	1021	c.854A>G	c.(853-855)aAa>aGa	p.K285R	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.K285R|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	285	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GGAACATCAAAAAGACTTCAA	0.428000													15	19					0	0	1	0	0
TSR1	55720	broad.mit.edu	37	17	2233881	2233881	+	Silent	SNP	G	G	A	rs137952904		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr17:2233881G>A	ENST00000301364.4	-	10	2777	c.1698C>T	c.(1696-1698)ccC>ccT	p.P566P		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	566					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCACTGAGACGGGGACTTCAG	0.463000													37	8					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237580424	237580424	+	Splice_Site	SNP	G	G	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr1:237580424G>A	ENST00000366574.2	+	11	1165		c.e11+1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						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	p.?(1)		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)			TAAGAGTTGCGTAAGTAGAAC	0.448000													11	27					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11091372	11091372	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr7:11091372C>T	ENST00000403050.3	+	14	2898	c.2446C>T	c.(2446-2448)Cca>Tca	p.P816S	PHF14_ENST00000445996.2_Missense_Mutation_p.P531S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	816							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ACAGGATGTGCCACCAGAACC	0.403000													16	26					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr10:37430948C>G	ENST00000374660.1	+	7	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGCCAGCAAAAGG	0.423000													4	130					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9680518	9680518	+	Missense_Mutation	SNP	C	C	T			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr17:9680518C>T	ENST00000330255.4	-	4	578	c.566G>A	c.(565-567)cGt>cAt	p.R189H	DHRS7C_ENST00000571134.1_Missense_Mutation_p.R188H	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	189						extracellular region	binding|oxidoreductase activity	p.R189L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ACAAGTCGTACGGAACGGGAT	0.423000													30	5					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875657	247875657	+	Missense_Mutation	SNP	G	G	A	rs142323720		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr1:247875657G>A	ENST00000302084.2	-	1	448	c.401C>T	c.(400-402)gCc>gTc	p.A134V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A134G(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACTCATGATGGCTCCGTAGTG	0.557000													44	51					0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118771546	118771546	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr2:118771546delC	ENST00000376300.2	-	1	163	c.26delG	c.(25-27)gcfs	p.G9fs	CCDC93_ENST00000319432.5_Frame_Shift_Del_p.G9fs	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	9										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GAGACCCTGGCCCTCCGGCCC	0.716													2	4	---	---	---	---					
PLEKHB2	55041	broad.mit.edu	37	2	132110683	132110684	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr2:132110683_132110684delTC	ENST00000404460.1	+	7	568_569	c.514_515delTC	c.(514-516)tfs	p.S172fs	PLEKHB2_ENST00000303908.3_Frame_Shift_Del_p.S172fs			Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	0				Y -> H (in Ref. 1; BAA91379).		membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TCCCAGCGAATCTCCGATAAGA	0.495													18	18	---	---	---	---					
CIDECP	152302	broad.mit.edu	37	3	10065573	10065574	+	RNA	INS	-	-	A	rs140644498	by1000genomes	TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr3:10065573_10065574insA	ENST00000432401.1	-	0	317																											gtgaatatactaaaaaaccctg	0.332													2	4	---	---	---	---					
EQTN	54586	broad.mit.edu	37	9	27297013	27297014	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr9:27297013_27297014insA	ENST00000380032.3	-	1	123_124	c.40_41insT	c.(40-42)cttfs	p.L14fs	EQTN_ENST00000380031.1_Frame_Shift_Ins_p.L14fs|EQTN_ENST00000537675.1_Frame_Shift_Ins_p.L14fs	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated																		ACTTTTTAAGGAAAAAACTCCA	0.327													20	28	---	---	---	---					
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703995	+	RNA	DEL	T	T	-	rs113703393		TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr19:53703995delT	ENST00000597550.1	+	0	232																											TGTTTCCCCCttttttttttt	0.473													4	2	---	---	---	---					
C21orf128	150147	broad.mit.edu	37	21	43523873	43523875	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chr21:43523873_43523875delGAG	ENST00000329015.2	-	2	509_511	c.358_360delCTC	c.(358-360)del	p.L120del	UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000408910.2_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.1_Intron					chromosome 21 open reading frame 128											lung(4)	4						CTTGATTGTAGAGGAGAGAAATG	0.567													5	8	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	41000615	41000616	+	Frame_Shift_Ins	INS	-	-	CACCTTA			TCGA-UP-A6WW-01A-12D-A34J-08	TCGA-UP-A6WW-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b14deb39-0c78-4a9a-9688-d06cb471a9f6	dd0c0d5a-e784-4e98-b1e0-77e2ee0e5d75	g.chrX:41000615_41000616insCACCTTA	ENST00000324545.7	+	9	1725_1726	c.1092_1093insCACCTTA	c.(1090-1095)agtatcfs	p.I365fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.I365fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	365					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGATATCTAGTGTATCATACTA	0.351													15	9	---	---	---	---