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
ROBO2	6092	broad.mit.edu	37	3	77693942	77693942	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr3:77693942C>G	uc011bgk.2	+	25	4677	c.4034C>G	c.(4033-4035)aCt>aGt	p.T1345S	ROBO2_uc021xat.1_Missense_Mutation_p.T1357S|ROBO2_uc003dpy.4_Missense_Mutation_p.T1341S|ROBO2_uc003dpz.3_Missense_Mutation_p.T1406S|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1341					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGGGATCCACTGGACCTAGG	0.517000													5	62					0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27221686	27221686	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr16:27221686C>A	uc010vcn.1	+	1	474	c.356C>A	c.(355-357)aCg>aAg	p.T119K	KDM8_uc010bxv.2_Missense_Mutation_p.T81K|KDM8_uc002doh.2_Missense_Mutation_p.T81K|KDM8_uc010bxw.2_Missense_Mutation_p.T81K	NM_001145348	NP_079049	Q8N371	KDM8_HUMAN	Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.	81					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										AAGCTCAACACGGGCACATGG	0.607000													3	70					0	0	1	0	0
DNAJB5	25822	broad.mit.edu	37	9	34997172	34997172	+	Silent	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr9:34997172C>T	uc011los.2	+	3	1540	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	DNAJB5_uc003zvs.3_Silent_p.L355L|DNAJB5_uc003zvt.3_Silent_p.L321L	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.	321					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGGAGACCTCATTGTTGAGT	0.547000													33	54					0	0	1	0	0
UQCR10	29796	broad.mit.edu	37	22	30163414	30163414	+	Silent	SNP	A	A	G	rs17849991		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr22:30163414A>G	uc003agq.1	+	0	57	c.27A>G	c.(25-27)aaA>aaG	p.K9K	ZMAT5_uc003agm.3_5'Flank|ZMAT5_uc003agn.3_5'Flank|ZMAT5_uc003ago.1_5'Flank|UQCR10_uc003agp.1_Silent_p.K9K|UQCR10_uc021wns.1_Silent_p.K9K	NM_013387	NP_037519	Q9UDW1	QCR9_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase, complex III subunit X (UQCR10), transcript variant 1, mRNA.	9					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						TGACTTCGAAATTGTACTCCC	0.627000													5	25					0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61178528	61178528	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr8:61178528G>A	uc003xtz.1	-	2	621	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	CA8_uc003xua.1_Missense_Mutation_p.R125C|CA8_uc003xub.3_Missense_Mutation_p.R125C	NM_004056	NP_004047	P35219	CAH8_HUMAN	Homo sapiens carbonic anhydrase VIII (CA8), mRNA.	125					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	p.R125H(1)		endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TCAGAACCACGCTGGTTTTCT	0.383000													5	24					0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113821961	113821961	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr12:113821961G>T	uc001tve.2	+	6	1044	c.1009G>T	c.(1009-1011)Gtg>Ttg	p.V337L	PLBD2_uc001tvf.2_Missense_Mutation_p.V337L	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	337					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GTGGAAGTATGTGCGGCCCAG	0.617000													3	54					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44219539	44219539	+	Silent	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:44219539C>A	uc003oxa.1	+	8	1464	c.1380C>A	c.(1378-1380)tcC>tcA	p.S460S	HSP90AB1_uc011dvr.1_Silent_p.S450S|HSP90AB1_uc003oxb.1_Silent_p.S460S|HSP90AB1_uc011dvs.1_Silent_p.S280S|HSP90AB1_uc003oxc.1_Silent_p.S98S	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	460					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding	p.T459T(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCATACCTCCCAGTCTGGAG	0.498000													4	73					0	0	1	0	0
CDX1	1044	broad.mit.edu	37	5	149562382	149562382	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr5:149562382G>T	uc003lrq.3	+	1	593	c.497G>T	c.(496-498)cGc>cTc	p.R166L		NM_001804	NP_001795	P47902	CDX1_HUMAN	Homo sapiens caudal type homeobox 1 (CDX1), mRNA.	166						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R166S(1)		central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACCACCAACGCCTGGAGCTG	0.567000													58	127					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118889	194118889	+	Silent	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr3:194118889C>T	uc003ftv.1	-	1	154	c.123G>A	c.(121-123)gcG>gcA	p.A41A	GP5_uc021xiz.1_Silent_p.A41A	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	41	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGGAGATGCGCGCCACGTCGC	0.706000													13	28					0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91222287	91222287	+	Missense_Mutation	SNP	A	A	C	rs3740030	by1000genomes	TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr10:91222287A>C	uc001kgm.3	-	2	350	c.49T>G	c.(49-51)Tgg>Ggg	p.W17G		NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	0						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TCCAACAGCCAAGTTATGATC	0.478000													2	11					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600340	29600340	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr13:29600340T>A	uc001usl.4	+	0	1593	c.1535T>A	c.(1534-1536)gTc>gAc	p.V512D		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	502						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCAAAGAGGTCACCACATCT	0.493000													6	19					0	0	1	0	0
STK38L	23012	broad.mit.edu	37	12	27467471	27467471	+	Silent	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr12:27467471C>A	uc001rhr.3	+	6	751	c.552C>A	c.(550-552)acC>acA	p.T184T	STK38L_uc010sjm.2_Silent_p.T91T|STK38L_uc010sjn.2_5'UTR	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.	184	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	ATP binding|actin 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)					AGAAAGACACCTTGACAGAAG	0.378000													3	33					0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38938670	38938670	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr17:38938670C>A	uc002hvg.3	-	0	117	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	26	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CCTGCTCCCCCACTAGAGAGC	0.587000													3	17					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38277950	38277950	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr14:38277950G>A	uc001wuj.3	+	6	760	c.658G>A	c.(658-660)Gca>Aca	p.A220T	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.A123T|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TTATAAGCTAGCAATTACAGA	0.274000													29	58					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44371735	44371735	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:44371735A>T	uc003oxl.3	+	5	1039	c.729A>T	c.(727-729)agA>agT	p.R243S		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	243					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAATTAAGACAACAGGATC	0.398000													16	32					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179966074	179966074	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:179966074C>A	uc001gnt.3	+	5	1165	c.782C>A	c.(781-783)tCt>tAt	p.S261Y	CEP350_uc001gnr.1_Missense_Mutation_p.S235Y|CEP350_uc009wxl.2_Missense_Mutation_p.S260Y|CEP350_uc001gnu.3_Missense_Mutation_p.S95Y	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	261						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCTCCATCCTCTACTAGTACT	0.378000													4	45					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62022975	62022975	+	Silent	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr17:62022975G>A	uc002jds.1	-	18	3542	c.3465C>T	c.(3463-3465)ggC>ggT	p.G1155G		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1155					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGGGGATGGCGCCTAGGAGGG	0.592000													25	120					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247226	164247226	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:164247226C>A	uc003iqm.2	-	1	946	c.481G>T	c.(481-483)Gtg>Ttg	p.V161L	NPY1R_uc021xtv.1_Missense_Mutation_p.V161L|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	161					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACCCAAATCACAGCAATACCT	0.433000													13	25					0	0	1	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000													4	14					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10058810	10058810	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chrX:10058810G>A	uc004csx.4	+	6	576	c.378_splice	c.e6-1	p.E126_splice	WWC3_uc010nds.3_Splice_Site|WWC3_uc010ndt.3_Splice_Site	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	126										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GTTTTAACTAGGATTGATCGG	0.423000													9	13					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96955019	96955019	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr2:96955019C>A	uc002svu.3	-	21	3171	c.3039G>T	c.(3037-3039)gaG>gaT	p.E1013D		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1013	SEC63 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCCTGAAAAGCTCAATCTCAC	0.517000													4	40					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159035790	159035790	+	Silent	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:159035790A>T	uc001ftj.1	-	3	971	c.726T>A	c.(724-726)atT>atA	p.I242I		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	242	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CTTTTCTGATAATGTTCAGCG	0.428000													10	58					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223566906	223566906	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:223566906G>A	uc001hoa.2	+	0	192	c.89G>A	c.(88-90)cGg>cAg	p.R30Q		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	30										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCACGCAGCGGCTGGGCGGG	0.736000													4	10					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47809012	47809012	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:47809012G>A	uc003gxm.3	-	1	209	c.116C>T	c.(115-117)gCg>gTg	p.A39V	CORIN_uc011bzg.2_Missense_Mutation_p.A39V|CORIN_uc011bzh.1_Missense_Mutation_p.A39V|CORIN_uc011bzi.1_Missense_Mutation_p.A39V|CORIN_uc003gxn.4_Missense_Mutation_p.A39V	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	39					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTTAGCAGTCGCCAGCTTCTG	0.453000													5	25					0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82763400	82763400	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chrX:82763400C>T	uc004eeg.2	+	0	132	c.68C>T	c.(67-69)gCg>gTg	p.A23V		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	23					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCGGACTCTGCGGGCATGCAG	0.557000													3	18					0	0	1	0	0
RCHY1	25898	broad.mit.edu	37	4	76417113	76417113	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:76417113G>T	uc003hik.3	-	4	580	c.436C>A	c.(436-438)Cca>Aca	p.P146T	RCHY1_uc010iio.3_Missense_Mutation_p.P42T|RCHY1_uc003hij.3_Missense_Mutation_p.P146T|RCHY1_uc021xpe.1_Non-coding_Transcript|RCHY1_uc010iiq.3_Non-coding_Transcript|RCHY1_uc003hil.3_Missense_Mutation_p.P146T|RCHY1_uc010iip.3_Missense_Mutation_p.P146T|RCHY1_uc010iir.3_Missense_Mutation_p.P106T	NM_015436	NP_056251	Q96PM5	ZN363_HUMAN	Homo sapiens ring finger and CHY zinc finger domain containing 1 (RCHY1), transcript variant 1, mRNA.	146					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAACATATTGGACAATTCTGT	0.284000													12	35					0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117864087	117864087	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr11:117864087T>C	uc001prv.3	+	3	576	c.499T>C	c.(499-501)Tat>Cat	p.Y167H	IL10RA_uc010rxl.2_Missense_Mutation_p.Y147H|IL10RA_uc010rxm.2_Missense_Mutation_p.Y147H|IL10RA_uc010rxn.2_Missense_Mutation_p.Y18H|IL10RA_uc001prw.3_Missense_Mutation_p.Y18H	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	167						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CTTCCGAGAGTATGAGATTGC	0.567000													3	55					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31983565	31983565	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr5:31983565G>A	uc003jhl.3	+	2	1169	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	PDZD2_uc003jhm.3_Missense_Mutation_p.G261S|PDZD2_uc011cnx.1_Missense_Mutation_p.G87S	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	261					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACTTGGAAACGGCCATGTCTT	0.557000													4	74					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515257	102515257	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr15:102515257C>T	uc002cdi.3	+	8	1901	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.											central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTCCGGTGGCCGGGCCACTCT	0.647000													6	8					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748253	19748253	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr13:19748253A>T	uc009zzj.3	-	4	1208	c.1103T>A	c.(1102-1104)cTg>cAg	p.L368Q		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	368					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.D367E(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CACCTTGGCCAGGTCTCCCCC	0.582000													16	53					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133949433	133949433	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr10:133949433G>T	uc001lkx.4	+	5	970	c.970_splice	c.e5-1	p.L324_splice		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TTGTCTTTCAGTTGAAGCGCG	0.507000													3	12					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2984130	2984130	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr7:2984130C>T	uc003smv.3	-	4	734	c.400G>A	c.(400-402)Gag>Aag	p.E134K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	134					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGATGACCTCGTTCATCAGG	0.602000			Mis		DLBCL								12	39					0	0	1	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400795	195400795	+	Missense_Mutation	SNP	C	C	T	rs7615357	by1000genomes	TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr3:195400795C>T	uc003fuw.3	+	8	1285	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GGGGCAAACTCGCTGTTGGAC	0.592000													3	16					0	0	1	0	0
LMO1	4004	broad.mit.edu	37	11	8248565	8248565	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr11:8248565C>A	uc001mgg.1	-	2	819	c.322G>T	c.(322-324)Gtg>Ttg	p.V108L	LMO1_uc009yfo.1_Non-coding_Transcript|LMO1_uc001mgh.1_Missense_Mutation_p.V107L	NM_002315	NP_002306	P25800	RBTN1_HUMAN	Homo sapiens LIM domain only 1 (rhombotin 1) (LMO1), mRNA.	108	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		AGGTGATACACGTTGTCCCGG	0.637000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma							3	27					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982637	7982637	+	Silent	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr11:7982637C>T	uc001mfv.1	-	1	539	c.522G>A	c.(520-522)tcG>tcA	p.S174S		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	174	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGTGCCAGCCGACCCCTGTA	0.542000													6	28					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151377502	151377515	+	Frame_Shift_Del	DEL	TAATGTTGCCATCG	-	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:151377502_151377515delTAATGTTGCCATCG	uc001eyd.2	-	18	4311_4324	c.3996_4009delCGATGGCAACATTA	c.(3994-4011)cccgatggcaacattaacfs	p.P1332fs	POGZ_uc021oyq.1_Frame_Shift_Del_p.P1279fs|POGZ_uc010pdb.2_Frame_Shift_Del_p.P1323fs|POGZ_uc010pdc.2_Frame_Shift_Del_p.P1270fs|POGZ_uc009wmv.2_Frame_Shift_Del_p.P1237fs|POGZ_uc001eyf.2_Frame_Shift_Del_p.P1288fs|POGZ_uc010pdd.2_Frame_Shift_Del_p.P823fs	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	1332					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCA	0.542											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	35	---	---	---	---					
YWHAQ	10971	broad.mit.edu	37	2	9731521	9731522	+	Splice_Site	INS	-	TT	TT			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr2:9731521_9731522insTT	uc002qzx.3	-	3	537	c.418_splice	c.e3+1	p.Q140_splice		NM_006826	NP_006817	P27348	1433T_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide (YWHAQ), mRNA.	140					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		ATAAACTTACGTTTTCGATCAT	0.381													18	51	---	---	---	---					
IRF4	3662	broad.mit.edu	37	6	397161	397161	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:397161delC	uc003msz.4	+	4	672	c.546delC	c.(544-546)gtcfs	p.V182fs	IRF4_uc010jne.2_Frame_Shift_Del_p.V182fs|IRF4_uc003mtb.4_Frame_Shift_Del_p.V181fs|IRF4_uc021ykl.1_Frame_Shift_Del_p.V28fs|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Frame_Shift_Del_p.V12fs	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	182					T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGGACTACGTCCCGGATCAGC	0.567			T	IGH@	MM								25	119	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206177	13206177	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:13206177delG	uc003nah.2	+	7	1168	c.795delG	c.(793-795)aagfs	p.K265fs	PHACTR1_uc011dir.2_Frame_Shift_Del_p.K334fs|PHACTR1_uc010jpc.3_Frame_Shift_Del_p.K265fs|PHACTR1_uc003nag.2_Frame_Shift_Del_p.K265fs	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	265						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	p.Q264Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CAGCCCAGAAGAGTGGCCAGC	0.627													18	58	---	---	---	---					
DNAH11	8701	broad.mit.edu	37	7	21882351	21882351	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr7:21882351delT	uc003svc.3	+	66	10933	c.10902delT	c.(10900-10902)gatfs	p.D3634fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3634	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAGGCCAGATTTGGAGAAAC	0.423									Kartagener syndrome				2	4	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													2	4	---	---	---	---					
