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
ATP13A4	84239	broad.mit.edu	37	3	193188757	193188757	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:193188757G>A	uc003ftd.3	-	8	942	c.834C>T	c.(832-834)cgC>cgT	p.R278R	ATP13A4_uc003fte.1_Silent_p.R278R|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc003ftf.4_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	278					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			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)		GCACCAGGACGCGTGATTCCA	0.448000													50	253					0	0	1	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58352661	58352661	+	Missense_Mutation	SNP	T	T	A	rs148810844	by1000genomes	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:58352661T>A	uc021vcp.1	+	2	854	c.619T>A	c.(619-621)Ttt>Att	p.F207I	ZNF587_uc002qqb.2_Intron|ZNF587B_uc021vcn.1_Missense_Mutation_p.F157I|ZNF587_uc002qqi.2_Intron|ZNF587_uc010yhh.2_Intron|ZNF587_uc021vco.1_Intron|ZNF587_uc002qqj.1_Intron	NM_001204818	NP_001191747	B4DR41	B4DR41_HUMAN	Homo sapiens zinc finger protein (LOC100293516), mRNA.	207					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.F207I(1)									TGTGTCTCCCTTTCAGTGTGG	0.493000													4	39					0	0	1	0	0
SLC16A11	162515	broad.mit.edu	37	17	6946803	6946803	+	Silent	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:6946803A>G	uc002gei.1	-	0	440	c.102T>C	c.(100-102)gaT>gaC	p.D34D		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	Homo sapiens solute carrier family 16, member 11 (monocarboxylic acid transporter 11) (SLC16A11), mRNA.	34						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CCCAGCCCCCATCCGGGGGTC	0.706000													6	26					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18972448	18972448	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrX:18972448A>C	uc004cyv.4	-	1	591	c.161T>G	c.(160-162)gTg>gGg	p.V54G	PHKA2_uc010nfh.1_Non-coding_Transcript|PHKA2_uc010nfi.1_5'UTR	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	54					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CAGGCCCCACACGGCCAGGAT	0.567000													27	47					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56568509	56568509	+	Silent	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:56568509T>G	uc001skb.3	-	15	1528	c.1422A>C	c.(1420-1422)cgA>cgC	p.R474R	SMARCC2_uc001skd.3_Silent_p.R474R|SMARCC2_uc001ska.3_Silent_p.R474R|SMARCC2_uc001skc.3_Silent_p.R474R|SMARCC2_uc010sqf.2_Silent_p.R363R	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	474	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGGTTCAGTCGGTAAGTGT	0.468000													14	147					0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16463618	16463618	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:16463618C>G	uc003jfq.3	-	1	979	c.859G>C	c.(859-861)Gat>Cat	p.D287H		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	Homo sapiens zinc finger protein 622 (ZNF622), mRNA.	287						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCCTTAATATCTGAAAGATAT	0.368000													15	84					0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41320470	41320470	+	Silent	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr22:41320470A>C	uc003azh.3	+	8	1442	c.1341A>C	c.(1339-1341)gtA>gtC	p.V447V	XPNPEP3_uc003azi.3_Silent_p.V368V|XPNPEP3_uc011aoy.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	447					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CTGGGATGGTAATCACAATTG	0.473000													9	31					0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156702121	156702121	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:156702121G>A	uc001fpu.3	+	2	919	c.285G>A	c.(283-285)gcG>gcA	p.A95A	RRNAD1_uc001fpv.3_Silent_p.A95A	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.	95						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	p.A95V(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						AGTCCACGGCGTGTGCCCTGG	0.592000													17	48					0	0	1	0	0
RPL21	6144	broad.mit.edu	37	13	27827919	27827919	+	Silent	SNP	G	G	A	rs112351536		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:27827919G>A	uc001ura.3	+	1	49	c.6G>A	c.(4-6)acG>acA	p.T2T	RPL21_uc001uqz.1_5'UTR|SNORD102_uc001urb.2_5'Flank|SNORA27_uc001urc.1_5'Flank	NM_000982	NP_000973	P46778	RL21_HUMAN	Homo sapiens ribosomal protein L21 (RPL21), mRNA.	2					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		CCAAAATGACGAACACAAAGG	0.418000													8	39					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57717867	57717867	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:57717867C>G	uc002emh.3	+	8	1008	c.905C>G	c.(904-906)tCa>tGa	p.S302*	GPR97_uc010vhv.2_Nonsense_Mutation_p.S182*|GPR97_uc010cdd.3_Intron|GPR97_uc010cde.3_Intron	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	302					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGGTTCAAGTCAGAAGATGCC	0.597000													13	49					0	0	1	0	0
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	RNA	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr20:25848606G>A	uc002wvd.1	-	0		c.181C>T								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						atcaccgtccgggcaggcctg	0.672000													5	18					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131199330	131199330	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:131199330G>A	uc003qch.2	-	13	2139	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C	EPB41L2_uc003qce.1_Missense_Mutation_p.R31C|EPB41L2_uc003qcf.1_Non-coding_Transcript|EPB41L2_uc010kfl.2_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_Intron|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcj.1_5'UTR	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	653	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATAAAATTGCGCTTGAGTTCA	0.458000													20	28					0	0	1	0	0
GET4	51608	broad.mit.edu	37	7	933563	933563	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:933563T>G	uc003sjl.1	+	7	942	c.850T>G	c.(850-852)Ttc>Gtc	p.F284V	GET4_uc003sjj.1_Non-coding_Transcript	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	Homo sapiens golgi to ER traffic protein 4 homolog (S. cerevisiae) (GET4), mRNA.	284					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACAGCTGTTCTTCGGCGTCCC	0.692000													12	34					0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15812530	15812530	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:15812530T>C	uc001awl.3	+	5	653	c.628T>C	c.(628-630)Tgc>Cgc	p.C210R		NM_015849	NP_056933	P08218	CEL2B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2B (CELA2B), mRNA.	210	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TGGCGTGATATGCACCTGCAA	0.562000													55	173					0	0	1	0	0
SIAH1	6477	broad.mit.edu	37	16	48395562	48395562	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:48395562C>G	uc021ths.1	-	0	778	c.778G>C	c.(778-780)Gac>Cac	p.D260H	MIR548AE2_uc021thr.1_Intron|LOC100507577_uc002efk.2_Non-coding_Transcript|SIAH1_uc002efl.3_Non-coding_Transcript|SIAH1_uc002efn.1_Missense_Mutation_p.D291H|SIAH1_uc002efo.1_Missense_Mutation_p.D260H|LOC100507577_uc021tht.1_5'Flank	NM_003031	NP_003022	Q8IUQ4	SIAH1_HUMAN	Homo sapiens seven in absentia homolog 1 (Drosophila) (SIAH1), transcript variant 1, mRNA.	260	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				ATGCTGGTGTCAAAGACTAGA	0.418000													11	30					0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57065752	57065752	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:57065752A>T	uc002qnj.3	+	7	1669	c.1598A>T	c.(1597-1599)tAc>tTc	p.Y533F	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GAGAAACCTTACAAATGTGAT	0.418000													5	41					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926933	1926933	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:1926933T>G	uc002qxe.3	-	9	1435	c.608A>C	c.(607-609)aAg>aCg	p.K203T	MYT1L_uc002qxd.3_Missense_Mutation_p.K203T|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	203					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TAACAATGACTTGGCCACCAG	0.423000													4	33					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576730	158576730	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:158576730T>G	uc010pio.2	+	0	502	c.502T>G	c.(502-504)Ttc>Gtc	p.F168V		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCACCTCTCATTCTGCAGCTC	0.498000													27	107					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7625282	7625282	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:7625282A>G	uc003srf.3	+	6	1972	c.1664A>G	c.(1663-1665)aAt>aGt	p.N555S	MIOS_uc003srg.3_Missense_Mutation_p.N90S|MIOS_uc010ktq.3_5'UTR	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	555										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGAATCTCAATGTGGTAGCA	0.368000													53	66					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414330	68414330	+	RNA	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:68414330T>C	uc004aex.3	+	0		c.885T>C								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		atgattaagcttagtgaagat	0.428000													5	29					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28931761	28931761	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:28931761T>C	uc001usb.3	-	14	2463	c.2178A>G	c.(2176-2178)gaA>gaG	p.E726E		NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	726	Ig-like C2-type 7.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GATAGACACCTTCATCCTCTT	0.453000													20	71					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990171	15990171	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:15990171A>C	uc002nbs.1	-	11	1432	c.1382T>G	c.(1381-1383)tTc>tGc	p.F461C	CYP4F2_uc010xot.1_Missense_Mutation_p.F312C	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	461					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCCTGCCGAGAAGGGAATAAA	0.577000													7	328					0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39580586	39580586	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:39580586G>A	uc002hwp.1	-	0	237	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	64	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				AGGCTGGGGCGGCCCAGGGGA	0.642000													4	97					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	607	607	+	RNA	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrGL000237.1:607C>G	uc011mgu.1	-	1		c.611G>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		CCTCCTTGCCCTGGCTGCACC	0.607000													3	13					0	0	1	0	0
GLT25D2	23127	broad.mit.edu	37	1	183944241	183944241	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:183944241T>C	uc001gqr.3	-	2	854	c.482A>G	c.(481-483)gAc>gGc	p.D161G	GLT25D2_uc010poj.1_Missense_Mutation_p.D161G|GLT25D2_uc001gqs.3_Missense_Mutation_p.D41G	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	161					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						CAGAATGTAGTCTGACCATTT	0.448000													29	45					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2603	2603	+	RNA	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrGL000237.1:2603C>G	uc011mgu.1	-	0		c.84G>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		gttacaggctccagcctccag	0.612000													5	32					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858342	54858342	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:54858342A>C	uc002rxu.3	+	15	3407	c.3158A>C	c.(3157-3159)aAc>aCc	p.N1053T	SPTBN1_uc002rxx.3_Missense_Mutation_p.N1040T	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1053					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCCTGAAAAACCGAGAGGCC	0.632000													5	129					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3107137	3107137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:3107137C>A	uc002cth.3	+	4	1002	c.765C>A	c.(763-765)taC>taA	p.Y255*	BC045731_uc002ctj.1_Intron	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	255					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						GGCCCTTCTACCAGGGTCCGG	0.642000													66	164					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113850128	113850128	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:113850128C>G	uc003ebd.2	-	6	1266	c.843G>C	c.(841-843)aaG>aaC	p.K281N	DRD3_uc010hqn.1_Missense_Mutation_p.K281N|DRD3_uc003ebb.1_Missense_Mutation_p.K281N|DRD3_uc003ebc.1_Missense_Mutation_p.K281N	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	281					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AATTCCGAGTCTTCTCCTCTC	0.522000													82	164					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182584220	182584220	+	Silent	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:182584220A>G	uc003flb.3	+	13	1865	c.1608A>G	c.(1606-1608)gaA>gaG	p.E536E	ATP11B_uc003flc.3_Silent_p.E120E	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	536					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CTCTAGTAGAAGCTGCTGCAA	0.378000													33	77					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414533	68414533	+	RNA	SNP	A	A	C	rs143375301		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:68414533A>C	uc004aex.3	+	0		c.1088A>C								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		atggaacatcactgtctgggt	0.373000													3	26					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48319344	48319344	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:48319344T>C	uc003toq.2	+	17	8577	c.8553T>C	c.(8551-8553)atT>atC	p.I2851I	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2851					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTTGAGATTTTCATTAAAG	0.348000													24	94					0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68597927	68597927	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:68597927A>G	uc010cff.3	+	4	1529	c.1237A>G	c.(1237-1239)Atg>Gtg	p.M413V	ZFP90_uc002ewb.3_Missense_Mutation_p.I218M|ZFP90_uc002ewc.3_Missense_Mutation_p.I218M|ZFP90_uc002ewd.3_Missense_Mutation_p.M413V|ZFP90_uc002ewe.3_Missense_Mutation_p.M413V	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	413					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TTATAAACATATGAGGATTCA	0.428000													13	67					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16356552	16356552	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:16356552G>A	uc001axu.3	+	13	1470	c.1390G>A	c.(1390-1392)Ggg>Agg	p.G464R	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.G421R|CLCNKA_uc001axv.3_Missense_Mutation_p.G464R|CLCNKA_uc010obx.1_Missense_Mutation_p.G111R|CLCNKA_uc010oby.1_Missense_Mutation_p.G200R|CLCNKA_uc021ogl.1_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	464					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.Y466fs*25(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CATCATGCCCGGGGGGTATGC	0.657000													4	38					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230667108	230667108	+	Silent	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:230667108A>G	uc002vpx.1	-	20	3094	c.2985T>C	c.(2983-2985)tgT>tgC	p.C995C	TRIP12_uc021vxw.1_Silent_p.C980C|TRIP12_uc002vpy.1_Silent_p.C677C|TRIP12_uc002vpw.1_Silent_p.C947C|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	947					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCCATTCGTACATGCCTTTG	0.473000													10	89					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137620521	137620521	+	Silent	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:137620521G>T	uc004cfe.3	+	5	1174	c.792G>T	c.(790-792)acG>acT	p.T264T		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	264	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCAGTACACGGAAGGAGACG	0.612000													36	155					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767179	77767179	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr8:77767179T>C	uc003yau.2	+	9	8409	c.8022T>C	c.(8020-8022)caT>caC	p.H2674H	ZFHX4_uc003yaw.1_Silent_p.H2629H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2629						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L2674L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACAGTCTCATAAACGGTGTC	0.542000										HNSCC(33;0.089)			23	96					0	0	1	0	0
ASCL1	429	broad.mit.edu	37	12	103352601	103352601	+	Silent	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:103352601C>A	uc001tjr.4	+	0	1150	c.579C>A	c.(577-579)atC>atA	p.I193I	ASCL1_uc021rcu.1_Silent_p.I193I	NM_004316	NP_004307	P50553	ASCL1_HUMAN	Homo sapiens achaete-scute complex homolog 1 (Drosophila) (ASCL1), mRNA.	193					Notch signaling pathway|cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						CGCCCACCATCTCCCCCAACT	0.672000													17	52					0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26190027	26190027	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:26190027G>T	uc021ojm.1	-	0	304	c.304C>A	c.(304-306)Cca>Aca	p.P102T	PAQR7_uc001bkx.3_Missense_Mutation_p.P102T	NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	Homo sapiens progestin and adipoQ receptor family member VII (PAQR7), mRNA.	102					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCGTGTGGGTCTCCCCAG	0.612000													22	93					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153660533	153660533	+	Silent	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:153660533C>A	uc001fcs.4	+	14	2674	c.2253C>A	c.(2251-2253)atC>atA	p.I751I	NPR1_uc010pdz.2_Silent_p.I497I|NPR1_uc010pea.2_Silent_p.I229I	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	751	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ATACAGAGATCATCGAGCGGG	0.657000													62	108					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:20414346G>A	uc003zoe.2	-	4	757	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_uc011lne.1_Silent_p.S134S|MLLT3_uc011lnf.1_Silent_p.S163S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(8)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								5	86					0	0	1	0	0
HOXD9	3235	broad.mit.edu	37	2	176987826	176987826	+	Silent	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:176987826C>T	uc010zex.2	+	0	414	c.330C>T	c.(328-330)tcC>tcT	p.S110S		NM_014213	NP_055028	P28356	HXD9_HUMAN	Homo sapiens homeobox D9 (HOXD9), mRNA.	110						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCTCTGCCTCCGAGCCCGGCC	0.796000													6	10					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78475270	78475270	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:78475270A>C	uc001vkp.1	-	4	1297	c.1144T>G	c.(1144-1146)Ttt>Gtt	p.F382V	EDNRB_uc001vkq.1_Missense_Mutation_p.F292V|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Missense_Mutation_p.F292V|EDNRB_uc010aez.1_Missense_Mutation_p.F292V	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	292					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.N382I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AGTGTATAAAAAAATGCAGTG	0.338000													4	34					0	0	1	0	0
NRN1	51299	broad.mit.edu	37	6	6002646	6002646	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:6002646T>C	uc003mwu.3	-	1	791	c.140A>G	c.(139-141)gAc>gGc	p.D47G	NRN1_uc021ykx.1_Non-coding_Transcript	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	Homo sapiens neuritin 1 (NRN1), mRNA.	47						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		GGCCATGCTGTCGCCCAGCTT	0.612000													33	146					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107205621	107205621	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:107205621C>A	uc010rvp.2	-	15	2455	c.2425G>T	c.(2425-2427)Gat>Tat	p.D809Y	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	809							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTTCTGATATCTTTTGAAGAG	0.333000													31	43					0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13039265	13039265	+	Silent	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:13039265G>T	uc002mvs.2	-	6	780	c.732C>A	c.(730-732)acC>acA	p.T244T	FARSA_uc010xmv.1_Silent_p.T213T	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	244					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TCGGCATCTCGGTGAACCTGG	0.607000													25	62					0	0	1	0	0
CCL13	6357	broad.mit.edu	37	17	32685137	32685137	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:32685137C>G	uc002hic.3	+	2	359	c.284C>G	c.(283-285)aCc>aGc	p.T95S		NM_005408	NP_005399	Q99616	CCL13_HUMAN	Homo sapiens chemokine (C-C motif) ligand 13 (CCL13), mRNA.	95				AHTLKT -> LTP (in Ref. 12; CAB01111).	cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				AAAGCTCACACCCTGAAGACT	0.483000													11	51					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61511823	61511823	+	Silent	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:61511823G>C	uc001nsa.3	+	19	3107	c.2991G>C	c.(2989-2991)tcG>tcC	p.S997S		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	997					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCAGCTCCTCGGGTGAGCTCA	0.677000													23	90					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153659705	153659705	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:153659705C>G	uc001fcs.4	+	12	2386	c.1965C>G	c.(1963-1965)atC>atG	p.I655M	NPR1_uc010pdz.2_Missense_Mutation_p.I401M|NPR1_uc010pea.2_Missense_Mutation_p.I133M	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	655	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ATGGGGCTATCTGTTCCCATG	0.562000													58	137					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108366950	108366950	+	Nonsense_Mutation	SNP	T	T	A	rs144896133		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:108366950T>A	uc001kyl.3	-	22	3321	c.3139A>T	c.(3139-3141)Aaa>Taa	p.K1047*	SORCS1_uc021pxw.1_Nonsense_Mutation_p.K1047*|SORCS1_uc009xxs.3_Nonsense_Mutation_p.K1047*|SORCS1_uc001kym.3_Nonsense_Mutation_p.K1047*|SORCS1_uc001kyn.2_Nonsense_Mutation_p.K1047*|SORCS1_uc001kyo.3_Nonsense_Mutation_p.K1047*	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	1047						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTTGACCTTTTGTTTTCTCCA	0.522000													18	42					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389323	1389323	+	Missense_Mutation	SNP	G	G	A	rs71299249	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:1389323G>A	uc003gdf.2	+	0	3984	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	342					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.P341P(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCGCCTGCTCACA	0.667000													6	412					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510657	56510657	+	Missense_Mutation	SNP	C	C	T	rs147669235		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:56510657C>T	uc010rjo.2	-	0	631	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E211K(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGGACTTTTTCGTAGACCCTG	0.438000													14	58					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24581363	24581363	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:24581363G>A	uc002dmh.3	+	16	4392	c.3352G>A	c.(3352-3354)Gtc>Atc	p.V1118I	RBBP6_uc010vcb.1_Missense_Mutation_p.V985I|RBBP6_uc002dmi.3_Missense_Mutation_p.V1084I|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.V951I	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1118	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTCCAAAGATGTCAAATCAGA	0.363000													5	19					0	0	1	0	0
ITGB1	3688	broad.mit.edu	37	10	33200429	33200429	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:33200429T>A	uc001iws.4	-	12	2014	c.1878A>T	c.(1876-1878)caA>caT	p.Q626H	ITGB1_uc001iwr.4_Missense_Mutation_p.Q626H|ITGB1_uc001iwt.4_Missense_Mutation_p.Q626H	NM_133376	NP_596867	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.	626	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACGTTTGCCCTTGAAACTTCG	0.468000													28	144					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103900434	103900434	+	Silent	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:103900434C>A	uc001kum.3	+	4	2208	c.2169C>A	c.(2167-2169)atC>atA	p.I723I	PPRC1_uc001kun.3_Silent_p.I603I|PPRC1_uc010qqj.2_Silent_p.I723I|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGACCATCATCCCTGAAGTCA	0.537000													22	146					0	0	1	0	0
PJA2	9867	broad.mit.edu	37	5	108680479	108680479	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:108680479C>G	uc003kos.4	-	7	2026	c.1806G>C	c.(1804-1806)gaG>gaC	p.E602D		NM_014819	NP_055634	O43164	PJA2_HUMAN	Homo sapiens praja ring finger 2 (PJA2), mRNA.	602	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	Golgi membrane|cell junction|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GATTGGCCACCTCAACATCCA	0.408000													9	87					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14261831	14261831	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:14261831G>C	uc010xnn.2	-	23	4575	c.4279C>G	c.(4279-4281)Cgc>Ggc	p.R1427G	LPHN1_uc010xno.2_Missense_Mutation_p.R1422G|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1427					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCTGGCGGGCGCGAGGTGTAG	0.731000													3	12					0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171849420	171849420	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:171849420C>T	uc003mbr.3	-	2	327	c.156_splice	c.e2+1	p.Q52_splice	SH3PXD2B_uc003mbs.1_Splice_Site_p.Q52_splice	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	52	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAATCCTTACCTGGAGGTCAA	0.498000													4	15					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60520989	60520989	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:60520989T>C	uc001czs.2	-	2	337	c.229A>G	c.(229-231)Act>Gct	p.T77A		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	77							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGATTATCAGTGGTTTGCTGA	0.423000													46	136					0	0	1	0	0
CYTH1	9267	broad.mit.edu	37	17	76694918	76694918	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:76694918G>A	uc021ueg.1	-	7	754	c.683C>T	c.(682-684)cCg>cTg	p.P228L	CYTH1_uc002jvw.3_Missense_Mutation_p.P228L|U6_uc021ueh.1_5'Flank|CYTH1_uc010wtw.1_Missense_Mutation_p.P169L|CYTH1_uc010wtx.1_Missense_Mutation_p.P169L	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	228					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						GAGCTCCTCCGGCAGGTCTCC	0.483000													75	194					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535481	124535481	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:124535481C>G	uc004bln.3	+	11	2659	c.2590C>G	c.(2590-2592)Cga>Gga	p.R864G	DAB2IP_uc004blo.3_Missense_Mutation_p.R768G|DAB2IP_uc004blp.3_Missense_Mutation_p.R297G	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	892					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCTGGCACGGCGACAGATGTC	0.677000													3	7					0	0	1	0	0
CCDC159	126075	broad.mit.edu	37	19	11462749	11462749	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:11462749G>A	uc010xlw.1	+	7	835	c.756G>A	c.(754-756)gaG>gaA	p.E252E	CCDC159_uc010xls.2_Silent_p.E169E|CCDC159_uc010xlt.2_Silent_p.E169E|CCDC159_uc010xlv.2_Silent_p.E168E	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN	Homo sapiens coiled-coil domain containing 159 (CCDC159), mRNA.	284										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						AGGAGGATGAGATCTCAGAGA	0.582000													11	61					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050036	42050036	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:42050036G>A	uc001cgz.4	-	3	1646	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	HIVEP3_uc001cha.4_Missense_Mutation_p.L145F|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	145					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGGAAGGAAGGAGCTGGCTC	0.612000													40	178					0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152037350	152037350	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrX:152037350A>C	uc004fgt.1	+	8	1073	c.812A>C	c.(811-813)gAg>gCg	p.E271A	NSDHL_uc004fgs.1_Missense_Mutation_p.E271A	NM_001129765	NP_057006	Q15738	NSDHL_HUMAN	Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 2, mRNA.	271					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|binding|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	ACCAATGATGAGCCCATCCCT	0.532000													22	217					0	0	1	0	0
NAPG	8774	broad.mit.edu	37	18	10540013	10540013	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr18:10540013G>A	uc002kon.3	+	6	624	c.397G>A	c.(397-399)Gct>Act	p.A133T	NAPG_uc010wzr.2_Missense_Mutation_p.A51T|NAPG_uc002kop.3_Missense_Mutation_p.A46T	NM_003826	NP_003817	Q99747	SNAG_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, gamma (NAPG), mRNA.	133					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						TCCAGAGAAGGCTGTACAGTT	0.289000													6	11					0	0	1	0	0
SERTM1	400120	broad.mit.edu	37	13	37269482	37269482	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:37269482T>C	uc001uvt.4	+	1	713	c.267T>C	c.(265-267)aaT>aaC	p.N89N	SERTM1_uc021rii.1_Silent_p.N89N	NM_203451	NP_982276	A2A2V5	CM036_HUMAN	Homo sapiens serine-rich and transmembrane domain containing 1 (SERTM1), mRNA.	89						integral to membrane											CTTTCACCAATTTGGAAGTCT	0.453000													23	66					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101831	81101831	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:81101831G>C	uc001szf.2	+	0	424	c.333G>C	c.(331-333)gaG>gaC	p.E111D		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	111	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AAATCAACGAGGCCTTCGAGG	0.587000													6	73					0	0	1	0	0
C17orf59	54785	broad.mit.edu	37	17	8092945	8092945	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:8092945G>A	uc010vut.2	-	0	620	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	Homo sapiens chromosome 17 open reading frame 59 (C17orf59), mRNA.	172										large_intestine(2)|lung(3)|urinary_tract(1)	6						GCCTCGCTCAGCCCGTCCAGG	0.736000													12	28					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34926321	34926321	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr21:34926321C>T	uc002yse.1	+	2	4833	c.4784C>T	c.(4783-4785)tCt>tTt	p.S1595F	SON_uc002ysb.1_Missense_Mutation_p.S1595F|SON_uc002ysc.3_Missense_Mutation_p.S1595F|SON_uc002ysd.3_Missense_Mutation_p.S586F|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.S1241F|SON_uc002ysg.3_Missense_Mutation_p.S586F	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1595					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ACTCTATCTTCTACTGGTCCT	0.413000													26	64					0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120925929	120925929	+	Silent	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:120925929C>A	uc001pxo.3	+	4	829	c.624C>A	c.(622-624)gcC>gcA	p.A208A	TBCEL_uc009zay.3_Silent_p.A208A|TBCEL_uc001pxp.3_Silent_p.A64A|TBCEL_uc001pxq.3_Intron	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	208						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TCGTCCTGGCCAACAATCATT	0.438000													9	43					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51868137	51868137	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:51868137C>A	uc001csq.1	-	17	1944	c.1852G>T	c.(1852-1854)Gat>Tat	p.D618Y	EPS15_uc009vyz.1_Missense_Mutation_p.D484Y|EPS15_uc001csp.3_Missense_Mutation_p.D304Y	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	618	15 X 3 AA repeats of D-P-F.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	SH3 domain binding|calcium ion binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGGAAAAAATCCAAGTTTGTA	0.269000			T	MLL	ALL								22	88					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733337	152733337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:152733337C>T	uc001fal.1	+	1	1331	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	KPRP_uc021ozf.1_Nonsense_Mutation_p.R425*	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	425	Pro-rich.					cytoplasm		p.R425*(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCTACCACGACAACTTTC	0.577000													121	265					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56918049	56918049	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:56918049G>C	uc002ekd.4	+	13	1787	c.1758G>C	c.(1756-1758)tgG>tgC	p.W586C	SLC12A3_uc010ccm.3_Missense_Mutation_p.W586C|SLC12A3_uc010ccn.3_Missense_Mutation_p.W585C	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	586					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTCACCTGGTGGGCGGCCC	0.602000													10	63					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229832	140229832	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:140229832G>A	uc003lhu.2	+	0	2476	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.S584S	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	597					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGCGGTCGGTGGGCGCCG	0.667000													59	131					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406502	38406502	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:38406502T>G	uc001izk.3	+	7	1253	c.423T>G	c.(421-423)aaT>aaG	p.N141K	ZNF37A_uc001izl.3_Missense_Mutation_p.N141K|ZNF37A_uc001izm.3_Missense_Mutation_p.N141K	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	141						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAATTAAAAATTGGGAACAAT	0.358000													24	87					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86668014	86668014	+	Splice_Site	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:86668014T>C	uc003kiw.3	+	13	1975	c.1776_splice	c.e13+2	p.Q592_splice	RASA1_uc010jav.3_Splice_Site|RASA1_uc003kix.3_Splice_Site_p.Q415_splice|RASA1_uc011ctv.2_Splice_Site_p.Q425_splice|RASA1_uc011ctw.2_Splice_Site_p.Q426_splice|RASA1_uc010jaw.3_Splice_Site_p.Q414_splice	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	592	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTTCGTCAGGTGAAGCTTAAT	0.363000													10	17					0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61666143	61666143	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:61666143C>G	uc001jks.4	-	0	272	c.40G>C	c.(40-42)Ggg>Cgg	p.G14R		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.	14						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTGTTGCCCCCCGCCCCGTCC	0.776000			T	RET	NSCLC								7	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064668	9064668	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:9064668G>C	uc002mkp.3	-	2	22982	c.22778C>G	c.(22777-22779)tCc>tGc	p.S7593C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7595	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACATTGTGGACTGCTCAGG	0.483000													14	88					0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53343316	53343316	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:53343316G>A	uc001sbe.3	+	1	428	c.359G>A	c.(358-360)gGa>gAa	p.G120E	KRT18_uc009zmn.2_Missense_Mutation_p.G120E|KRT18_uc001sbg.3_Missense_Mutation_p.G120E|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_5'UTR	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	120	Interaction with TRADD.|Linker 1.|Necessary for interaction with PNN.|Rod.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GAGAAGAAGGGACCCCAGGTC	0.587000													21	84					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079313	57079313	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr8:57079313G>T	uc003xsq.4	-	2	1443	c.992C>A	c.(991-993)tCt>tAt	p.S331Y	PLAG1_uc003xsr.4_Missense_Mutation_p.S331Y|PLAG1_uc010lyi.3_Missense_Mutation_p.S331Y|PLAG1_uc010lyj.3_Missense_Mutation_p.S249Y|PLAG1_uc022aur.1_Missense_Mutation_p.S249Y	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	331	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ATATTTGAAAGAAAGGTGGTG	0.418000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								33	263					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807988	8807988	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:8807988C>T	uc002mkl.2	-	0	1185	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	355						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGCTCTGCCCGGAAGCGACC	0.652000													26	72					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			35	33					0	0	1	0	0
HNRNPD	3184	broad.mit.edu	37	4	83279884	83279884	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:83279884T>A	uc003hmm.1	-	3	867	c.549A>T	c.(547-549)aaA>aaT	p.K183N	HNRNPD_uc003hml.1_Non-coding_Transcript|HNRNPD_uc003hmn.1_Missense_Mutation_p.K164N|HNRNPD_uc003hmo.1_Missense_Mutation_p.K183N|HNRNPD_uc003hmp.1_Missense_Mutation_p.K164N|HNRNPD_uc010ijr.1_Missense_Mutation_p.K164N|HNRNPD_uc011cci.1_Missense_Mutation_p.K29N	NM_031370	NP_112738	Q14103	HNRPD_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) (HNRNPD), transcript variant 1, mRNA.	183	RRM 2.				RNA catabolic process|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CAACAAAAATTTTTTTAACCG	0.368000													19	70					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38431442	38431442	+	Silent	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:38431442C>T	uc003tgu.3	-	18	2001	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	AMPH_uc003tgv.3_Silent_p.Q553Q|AMPH_uc003tgt.3_Silent_p.Q480Q|AMPH_uc003tgw.1_Silent_p.Q618Q|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	595					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AAGGCGTGGGCTGAGGGTCCT	0.632000													20	74					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180410	124180410	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:124180410A>C	uc010sag.2	-	0	253	c.253T>G	c.(253-255)Ttc>Gtc	p.F85V		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TTTCCTAGGAAGTTCACCAGC	0.468000													16	44					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35454241	35454241	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:35454241C>T	uc001mwf.3	-	11	1920	c.1877G>A	c.(1876-1878)aGc>aAc	p.S626N	PAMR1_uc001mwg.3_Missense_Mutation_p.S609N|PAMR1_uc010rew.2_Missense_Mutation_p.S498N|PAMR1_uc010rex.2_Missense_Mutation_p.S569N	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	609	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GAAGCCAGGGCTCCTCACGTC	0.607000													11	43					0	0	1	0	0
PPIC	5480	broad.mit.edu	37	5	122365082	122365082	+	Missense_Mutation	SNP	T	T	C	rs45449493		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:122365082T>C	uc003kth.3	-	1	254	c.149A>G	c.(148-150)gAt>gGt	p.D50G	PPIC_uc011cwp.1_Missense_Mutation_p.D50G	NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	50	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	TCTGCCAACATCTTTGTCTCC	0.398000													10	69					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9786709	9786709	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:9786709T>G	uc003bse.3	+	9	3319	c.2920T>G	c.(2920-2922)Ttc>Gtc	p.F974V	BRPF1_uc003bsf.3_Missense_Mutation_p.F980V|BRPF1_uc003bsg.3_Missense_Mutation_p.F973V|BRPF1_uc011ati.2_Missense_Mutation_p.F879V	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	974	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGCCAATGGCTTCAGCGGTGG	0.527000													24	76					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176982219	176982219	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:176982219G>A	uc002ukj.3	+	0	728	c.658G>A	c.(658-660)Gag>Aag	p.E220K		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	220						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGAGAGCCCCGAGGCCAAAGG	0.622000													13	67					0	0	1	0	0
LCE1A	353131	broad.mit.edu	37	1	152799971	152799971	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:152799971A>G	uc010pdw.2	+	0	23	c.23A>G	c.(22-24)cAg>cGg	p.Q8R		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	8	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCCAGCAGCAGTGCCAG	0.617000													20	321					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	rs113954997		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:14316390T>A	uc001mlf.4	-	2	529	c.215A>T	c.(214-216)cAa>cTa	p.Q72L	RRAS2_uc021qec.1_5'UTR|RRAS2_uc009ygq.3_5'UTR|RRAS2_uc010rco.2_Missense_Mutation_p.Q78L|RRAS2_uc021qed.1_Missense_Mutation_p.Q37L	NM_012250	NP_001170786	P62070	RRAS2_HUMAN	Homo sapiens related RAS viral (r-ras) oncogene homolog 2 (RRAS2), transcript variant 1, mRNA.	72			Q -> L (in an ovarian cancer sample; somatic mutation).			endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	p.Q72L(4)|p.Q72H(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393000													88	92					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112650324	112650324	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:112650324G>T	uc001kzh.3	+	7	1172	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	PDCD4_uc001kzg.3_Missense_Mutation_p.D285Y|PDCD4_uc010qre.2_Missense_Mutation_p.D282Y	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	296					apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AGCTGCTCTGGATAAGGCTAC	0.408000													10	69					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7605313	7605313	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:7605313T>C	uc021pmv.1	-	13	2668	c.2562A>G	c.(2560-2562)gaA>gaG	p.E854E	ITIH5_uc021pmu.1_Silent_p.E640E	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	854					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.E854K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGCAGGGTCTTCTGTGAGTC	0.567000													5	45					0	0	1	0	0
APEX1	328	broad.mit.edu	37	14	20925652	20925652	+	Silent	SNP	A	A	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr14:20925652A>T	uc001vxg.3	+	4	1274	c.942A>T	c.(940-942)ctA>ctT	p.L314L	OSGEP_uc001vxf.3_5'Flank|APEX1_uc001vxh.3_Silent_p.L314L|APEX1_uc001vxi.3_Silent_p.L314L|APEX1_uc021rnr.1_Silent_p.L314L	NM_001641	NP_001632	P27695	APEX1_HUMAN	Homo sapiens APEX nuclease (multifunctional DNA repair enzyme) 1 (APEX1), transcript variant 1, mRNA.	314	Mitochondrial targeting sequence (MTS).				DNA demethylation|DNA recombination|base-excision repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|RNA binding|chromatin DNA binding|damaged DNA binding|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	CTATCACCCTATACCTAGCAC	0.473000								Other BER factors					12	154					0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44165125	44165125	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:44165125G>C	uc001rnu.3	+	3	394	c.264G>C	c.(262-264)ttG>ttC	p.L88F	IRAK4_uc001rnt.3_Missense_Mutation_p.L88F|IRAK4_uc001rnx.3_Intron|IRAK4_uc001rny.3_Intron|IRAK4_uc010sky.1_Intron|IRAK4_uc001rnv.3_5'UTR|IRAK4_uc001rnw.3_5'UTR	NM_001114182	NP_001138730	Q9NWZ3	IRAK4_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA.	88	Death.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TGGATCTTTTGATCCAAAATG	0.418000													11	51					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871857	51871857	+	Missense_Mutation	SNP	C	C	G	rs143642849		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr20:51871857C>G	uc002xwo.3	+	1	2747	c.1860C>G	c.(1858-1860)caC>caG	p.H620Q	TSHZ2_uc021wex.1_Missense_Mutation_p.H617Q	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	620					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGTCCCCACGAAGAGGCCT	0.517000													35	113					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116594298	116594298	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:116594298T>G	uc002tle.3	+	23	2191	c.2170T>G	c.(2170-2172)Tta>Gta	p.L724V	DPP10_uc002tla.2_Missense_Mutation_p.L720V|DPP10_uc002tlb.2_Missense_Mutation_p.L670V|DPP10_uc002tlc.2_Missense_Mutation_p.L716V|DPP10_uc002tlf.2_Missense_Mutation_p.L713V	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	720					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAAAATATATTAATAATTCA	0.338000													24	108					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325523	152325523	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:152325523G>C	uc001ezw.4	-	2	4812	c.4739C>G	c.(4738-4740)aCt>aGt	p.T1580S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1580							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCACTGTCAGTGGACTCACT	0.507000													9	736					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874297	36874297	+	Silent	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:36874297T>G	uc003cgj.3	-	20	6893	c.6645A>C	c.(6643-6645)acA>acC	p.T2215T		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2215					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CATACATATCTGTAGACAAAA	0.388000													19	52					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105558018	105558018	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:105558018C>G	uc010swr.2	+	30	3377	c.3290C>G	c.(3289-3291)gCc>gGc	p.A1097G	KIAA1033_uc001tld.3_Missense_Mutation_p.A1096G|KIAA1033_uc010sws.2_Missense_Mutation_p.A908G	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	1096					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GTACAGTCAGCCAGTCAAGAT	0.433000													7	32					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58010124	58010124	+	Missense_Mutation	SNP	G	G	A	rs116051216	by1000genomes	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:58010124G>A	uc001spb.3	+	13	1938	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	ARHGEF25_uc009zpy.3_Missense_Mutation_p.R532Q|ARHGEF25_uc001spa.3_Missense_Mutation_p.R387Q|BC073932_uc001spc.3_Intron	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.	493	Sufficient to bind activated GNAQ.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	p.R493Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AGCCTGGGGCGGCCAAGAGGG	0.592000													47	66					0	0	1	0	0
UQCC	55245	broad.mit.edu	37	20	33971845	33971845	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr20:33971845C>T	uc002xcd.3	-	2	400	c.221G>A	c.(220-222)cGt>cAt	p.R74H	UQCC_uc010zuy.2_Intron|UQCC_uc021wcl.1_Missense_Mutation_p.R28H|UQCC_uc010zva.2_Splice_Site_p.P74_splice|UQCC_uc010gfb.3_Missense_Mutation_p.R74H|UQCC_uc010zvb.2_Intron|UQCC_uc002xcg.3_5'UTR|UQCC_uc002xcf.3_Intron|UQCC_uc010zuz.2_Intron|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Missense_Mutation_p.R28H|UQCC_uc010gfd.2_Intron|RN7SK_uc021wcm.1_5'Flank	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase complex chaperone (UQCC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	74						cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCTCACCTTACGTGTGGTGTG	0.433000													8	24					0	0	1	0	0
ACTR3	10096	broad.mit.edu	37	2	114691916	114691916	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:114691916G>A	uc002tkx.1	+	5	813	c.493G>A	c.(493-495)Ggt>Agt	p.G165S	ACTR3_uc010yyc.1_Missense_Mutation_p.G103S|ACTR3_uc010yyd.1_Missense_Mutation_p.G114S	NM_005721	NP_005712	P61158	ARP3_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog (yeast) (ACTR3), mRNA.	165					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	ATP binding|actin binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GACGTTGACCGGTACGGTAAT	0.418000													86	117					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58197161	58197161	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:58197161T>C	uc001sqj.2	-	14	1860	c.1831A>G	c.(1831-1833)Atc>Gtc	p.I611V	AVIL_uc009zqe.2_Missense_Mutation_p.I604V|AVIL_uc001sqk.1_Missense_Mutation_p.I189V	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	611	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ACATCTAGGATTTCCTGCTGA	0.433000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	155					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915124	176915124	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:176915124G>T	uc001glc.3	-	12	2399	c.2187C>A	c.(2185-2187)ttC>ttA	p.F729L	ASTN1_uc001glb.1_Missense_Mutation_p.F729L|ASTN1_uc001gld.1_Missense_Mutation_p.F729L|ASTN1_uc009wwx.1_Missense_Mutation_p.F729L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	737					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGTAACCAAAGAACATCTCCC	0.498000													5	133					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:54754843A>G	uc010yer.1	-	12	1903	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													5	52					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7863053	7863053	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:7863053G>C	uc003jeb.3	-	3	1754	c.1582C>G	c.(1582-1584)Ctg>Gtg	p.L528V	FASTKD3_uc011cmp.2_Missense_Mutation_p.L230V|FASTKD3_uc003jec.3_Non-coding_Transcript	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	528					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGGTCTCCAGGGAACAGCAT	0.378000													71	168					0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68619733	68619733	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:68619733C>G	uc003hdn.3	-	0	2072	c.321G>C	c.(319-321)tgG>tgC	p.W107C	LOC550112_uc003hdl.4_Intron|GNRHR_uc003hdm.3_Missense_Mutation_p.W107C	NM_000406	NP_000397	P30968	GNRHR_HUMAN	Homo sapiens gonadotropin-releasing hormone receptor (GNRHR), transcript variant 1, mRNA.	107					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	CTCCAGCATACCATTGGACTG	0.473000													15	61					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25153946	25153946	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr22:25153946A>G	uc003abd.1	-	3	701	c.284T>C	c.(283-285)aTt>aCt	p.I95T	PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.I95T|PIWIL3_uc011ajy.1_5'UTR	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	95					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AACTCCACCAATCCTTCTCTC	0.438000													86	155					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31776314	31776314	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr15:31776314C>A	uc001zfq.3	-	10	2057	c.1964G>T	c.(1963-1965)gGc>gTc	p.G655V	OTUD7A_uc001zfr.3_Missense_Mutation_p.G662V	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	655						cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CAGGTAGTAGCCGATCATCTC	0.721000													4	15					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508093	106508093	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:106508093G>A	uc003vdv.4	+	1	172	c.87G>A	c.(85-87)gcG>gcA	p.A29A	PIK3CG_uc003vdu.3_Silent_p.A29A|PIK3CG_uc003vdw.3_Silent_p.A29A	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	29					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCAGTGCTGCGGCCAGCCTGT	0.637000													19	140					0	0	1	0	0
C10orf53	282966	broad.mit.edu	37	10	50901855	50901855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:50901855G>T	uc001jid.1	+	1	193	c.133G>T	c.(133-135)Gag>Tag	p.E45*	CHAT_uc010qgs.1_3'UTR|C10orf53_uc001jib.3_Nonsense_Mutation_p.E45*|C10orf53_uc001jic.1_Nonsense_Mutation_p.E45*	NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	Homo sapiens chromosome 10 open reading frame 53 (C10orf53), transcript variant 1, mRNA.	45										endometrium(1)|lung(6)	7		all_neural(218;0.107)				GGTCATCCTAGAGAAGATAGA	0.473000													7	66					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12903969	12903969	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrX:12903969G>T	uc004cvc.3	+	2	481	c.342G>T	c.(340-342)aaG>aaT	p.K114N		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	114					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TGTGCATCAAGAGGCTGCAGA	0.478000													39	80					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191669	152191669	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:152191669G>A	uc001ezt.1	-	2	2512	c.2436C>T	c.(2434-2436)ggC>ggT	p.G812G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	812					keratinization		calcium ion binding|protein binding	p.G812V(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAAGCCTGGCCTGAGCCAG	0.572000													35	230					0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177199126	177199126	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:177199126G>A	uc001glf.3	+	1	426	c.114G>A	c.(112-114)gcG>gcA	p.A38A		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	38						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CAGCCACGGCGGCTGCTGTGG	0.692000													33	46					0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42293839	42293839	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:42293839C>T	uc001uyj.3	-	25	3074	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	KIAA0564_uc001uyk.3_Missense_Mutation_p.V1002M	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1002						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		AAGTCAAACACATTTCGAACT	0.343000													5	21					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223116295	223116295	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:223116295G>C	uc001hnu.2	+	3	456	c.130G>C	c.(130-132)Gaa>Caa	p.E44Q		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	44					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CACACCCAAAGAAGCAACAAG	0.507000													15	57					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:9204125G>A	uc010xkj.2	+	0	205	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(4)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557000													4	115					0	0	1	0	0
WNT4	54361	broad.mit.edu	37	1	22456324	22456324	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:22456324G>A	uc001bfs.4	-	1	202	c.98C>T	c.(97-99)tCg>tTg	p.S33L	WNT4_uc010odt.2_5'UTR	NM_030761	NP_110388	P56705	WNT4_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 4 (WNT4), mRNA.	33					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation	Golgi apparatus|cell surface|extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	p.S32S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCTCCCCACCGACGACAGCTT	0.627000													40	174					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191848434	191848434	+	Missense_Mutation	SNP	G	G	C	rs150942324		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:191848434G>C	uc010fse.2	-	15	1812	c.1380C>G	c.(1378-1380)aaC>aaG	p.N460K	STAT1_uc021vue.1_Missense_Mutation_p.N272K|STAT1_uc002usj.2_Missense_Mutation_p.N460K|STAT1_uc002usk.2_Missense_Mutation_p.N460K|STAT1_uc002usl.2_Missense_Mutation_p.N462K|STAT1_uc010fsf.1_Missense_Mutation_p.N272K	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	460					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GCTGGCTGACGTTGGAGATCA	0.507000													21	122					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:25161397C>G	uc001upm.3	+	7		c.921C>G			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TGAAACATCTCTACAACTGGA	0.343000													4	36					0	0	1	0	0
RAET1E	135250	broad.mit.edu	37	6	150210552	150210552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:150210552G>T	uc003qnl.1	-	2	687	c.554C>A	c.(553-555)tCa>tAa	p.S185*	LOC100652739_uc003qni.2_Intron|RAET1E_uc003qnj.3_Nonsense_Mutation_p.S185*|RAET1E_uc003qnk.2_Nonsense_Mutation_p.S149*|RAET1E_uc010kih.1_Non-coding_Transcript|RAET1E_uc021zgq.1_Nonsense_Mutation_p.S185*|LOC100652739_uc021zgr.1_5'Flank	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	Homo sapiens retinoic acid early transcript 1E (RAET1E), transcript variant 1, mRNA.	185	MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	MHC class I protein complex|integral to membrane	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GTCTCCCTTTGAGAGCTTCCT	0.493000													43	45					0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48468234	48468234	+	Silent	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:48468234G>T	uc001rqx.3	-	7	1259	c.813C>A	c.(811-813)tcC>tcA	p.S271S	SENP1_uc001rqw.3_Silent_p.S271S|SENP1_uc001rqy.3_Silent_p.S72S|SENP1_uc001rqz.3_Silent_p.S72S|SENP1_uc009zkx.3_Silent_p.S271S	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	271					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AAGAAGATAGGGAATATACAC	0.433000													22	125					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81591249	81591249	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:81591249T>C	uc003uhr.1	-	35	3183	c.2927A>G	c.(2926-2928)aAa>aGa	p.K976R	CACNA2D1_uc011kgy.1_Missense_Mutation_p.K188R	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	988						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ACTGAATGATTTACTGTCGTT	0.388000													4	65					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844255	123844255	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:123844255T>C	uc001lfv.3	+	3	2600	c.2240T>C	c.(2239-2241)aTg>aCg	p.M747T	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.M747T|TACC2_uc010qtv.2_Missense_Mutation_p.M747T	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	747						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATAAGGAAGATGGGCAGCTGT	0.542000													25	156					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46443289	46443289	+	Silent	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:46443289G>T	uc002pdv.2	-	3	1359	c.1311C>A	c.(1309-1311)ggC>ggA	p.G437G		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	Homo sapiens neuro-oncological ventral antigen 2 (NOVA2), mRNA.	437	KH 3.					nucleus	RNA binding	p.G437G(2)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGATGCGAGCGCCCGTCAGCT	0.662000													41	159					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114467555	114467555	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:114467555G>A	uc004bfr.3	-	18	2770	c.2635C>T	c.(2635-2637)Cca>Tca	p.P879S	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.P840S|C9orf84_uc010mug.3_Missense_Mutation_p.P790S	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	879										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTATGTCTGGAGTATTAAGA	0.338000													7	41					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683137	100683137	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:100683137A>T	uc003uxp.1	+	2	8493	c.8440A>T	c.(8440-8442)Agt>Tgt	p.S2814C	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2814	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCATTAACTAGTATGCCTGT	0.498000													137	521					0	0	1	0	0
PYCR2	29920	broad.mit.edu	37	1	226075635	226075635	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:226075635G>A	uc010pvj.2	-	5	828	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	LEFTY1_uc001hpo.3_Silent_p.A116A|LEFTY1_uc009xej.2_Silent_p.A116A			Q96C36	P5CR2_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	0					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	GCCGCAGCACGGCCTGCACCA	0.736000													3	11					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70187451	70187451	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:70187451G>T	uc002eyf.1	+	17	3167	c.2210G>T	c.(2209-2211)cGa>cTa	p.R737L	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.R637L|PDPR_uc002eyg.1_Intron|PDPR_uc002eyh.2_Missense_Mutation_p.R82L|PDPR_uc010vls.1_Missense_Mutation_p.R82L	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	737					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GAATGTGGACGAGAGTCTCGG	0.473000													3	23					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3820578	3820578	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:3820578C>T	uc002cvv.3	-	13	3077	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D	CREBBP_uc002cvw.3_Missense_Mutation_p.G920D	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	958					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TACCGGTGTGCCAGGAGGCTG	0.577000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	297					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149503887	149503887	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:149503887G>A	uc003lro.3	-	13	2418	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	PDGFRB_uc010jhd.3_Missense_Mutation_p.S489L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	650	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGCTCCGACATAAGGGC	0.637000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								18	59					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413599	68413599	+	RNA	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:68413599C>A	uc004aex.3	+	0		c.154C>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		GTGCCTTTTGCTGAAACTCTG	0.602000													3	37					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784272	82784272	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:82784272C>G	uc003uhx.2	-	1	1974	c.1685G>C	c.(1684-1686)gGa>gCa	p.G562A	PCLO_uc003uhv.2_Missense_Mutation_p.G562A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	508	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTTCCAGATCCTGTTTGGCT	0.522000													22	457					0	0	1	0	0
VPS72	6944	broad.mit.edu	37	1	151156886	151156886	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:151156886G>C	uc001exe.1	-	3	512	c.469C>G	c.(469-471)Cgg>Ggg	p.R157G	VPS72_uc001exf.1_Missense_Mutation_p.R157G	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	157					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCTTTCGCCGTCTTGACTGG	0.557000													19	339					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185074851	185074851	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:185074851A>C	uc003iwc.3	-	1	419	c.277T>G	c.(277-279)Tac>Gac	p.Y93D		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	93					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCCCACATGTAGTTCCCGATC	0.473000													10	35					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52716323	52716323	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:52716323C>T	uc002pyp.3	+	5	1062	c.767C>T	c.(766-768)tCc>tTc	p.S256F	PPP2R1A_uc010ydk.2_Missense_Mutation_p.S201F|PPP2R1A_uc010epm.1_Missense_Mutation_p.S296F|PPP2R1A_uc002pyq.3_Missense_Mutation_p.S77F	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	256	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.S256F(22)|p.S256Y(10)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAAGACAAGTCCTGGCGCGTC	0.617000			Mis		clear cell ovarian carcinoma								13	38					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438214	120438234	+	In_Frame_Del	DEL	TGTATCCTCATACGAACATCT	TGTATCCTCATACGAACATCT	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:120438214_120438234delTGTATCCTCATACGAACATCT	uc001eij.3	-	0	914_934	c.726_746delAGATGTTCGTATGAGGATACA	c.(724-747)caagatgttcgtatgaggatacac>cac	p.QDVRMRI242del		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	242	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGCCTTTAAGTGTATCCTCATACGAACATCTTGAAAGTAGG	0.344													7	46	---	---	---	---					
GPR52	9293	broad.mit.edu	37	1	174417869	174417872	+	RNA	DEL	TTGT	TTGT	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:174417869_174417872delTTGT	uc010pmu.1	-	0		c.463_466delACAA			RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron|GPR52_uc001gka.1_Frame_Shift_Del_p.I207fs			Q9Y2T5	GPR52_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022628 3' read GPR52 mRNA.							integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						ACTGGCTTTATTGTTTGTTTACTT	0.431													33	242	---	---	---	---					
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:46660414_46660415insA	uc003oyj.3	+	0	4803_4804	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_uc010jze.3_Frame_Shift_Ins_p.E1517fs	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351													7	73	---	---	---	---					
RRAGD	58528	broad.mit.edu	37	6	90121645	90121647	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:90121645_90121647delTCC	uc003pnd.4	-	0	349_351	c.66_68delGGA	c.(64-69)gaggat>gat	p.E22del	RRAGD_uc010kcc.3_5'UTR	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN	Homo sapiens Ras-related GTP binding D (RRAGD), mRNA.	22					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CACCAGctcatcctcctcctcct	0.754													3	4	---	---	---	---					
TBXAS1	6916	broad.mit.edu	37	7	139717541	139717550	+	Frame_Shift_Del	DEL	TGCCTCGGGG	TGCCTCGGGG	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:139717541_139717550delTGCCTCGGGG	uc011kqv.2	+	12	1811_1820	c.1576_1585delTGCCTCGGGG	c.(1576-1587)tgcctcggggtgfs	p.C526fs	TBXAS1_uc003vvh.3_Frame_Shift_Del_p.C480fs|TBXAS1_uc010lne.3_Frame_Shift_Del_p.C412fs|TBXAS1_uc003vvi.3_Frame_Shift_Del_p.C480fs|TBXAS1_uc011kqw.2_Frame_Shift_Del_p.C460fs|TBXAS1_uc003vvj.3_Intron	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	479					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|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCCACGGAGCTGCCTCGGGGTGCGTCTAGG	0.681													13	111	---	---	---	---					
LOC100507605	100507605	broad.mit.edu	37	10	29080464	29080476	+	RNA	DEL	AAGGGCTGGCCCA	AAGGGCTGGCCCA	-	rs3842228		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:29080464_29080476delAAGGGCTGGCCCA	uc021poo.1	-	2		c.1778_1790delTGGGCCAGCCCTT			LOC100507605_uc001iuk.2_Non-coding_Transcript|LOC100507605_uc021pop.1_Non-coding_Transcript					Homo sapiens uncharacterized LOC100507605 (LOC100507605), transcript variant 1, non-coding RNA.																		AGAAGGAGGGAAGGGCTGGCCCAAAGGGCTTCA	0.610													2	4	---	---	---	---					
DUSP5	1847	broad.mit.edu	37	10	112266691	112266692	+	Splice_Site	INS	-	-	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:112266691_112266692insG	uc001kzd.3	+	3	784	c.529_splice	c.e3-1	p.G177_splice		NM_004419	NP_004410	Q16690	DUS5_HUMAN	Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.	177					endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CCCTGCATCCAGGGTGGCCCAG	0.480													8	302	---	---	---	---					
TMPRSS5	80975	broad.mit.edu	37	11	113567582	113567582	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:113567582delG	uc001poc.4	-	5	698	c.576delC	c.(574-576)cccfs	p.P192fs	TMPRSS5_uc009yys.3_Frame_Shift_Del_p.P183fs|TMPRSS5_uc009yyt.3_Frame_Shift_Del_p.P148fs|TMPRSS5_uc001pod.4_5'UTR|TMPRSS5_uc010rww.2_Frame_Shift_Del_p.P182fs|TMPRSS5_uc009yyu.3_5'UTR|TMPRSS5_uc010rwx.2_Frame_Shift_Del_p.P148fs	NM_030770	NP_110397	Q9H3S3	TMPS5_HUMAN	Homo sapiens transmembrane protease, serine 5 (TMPRSS5), mRNA.	192	SRCR.				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		AGTCCTACCTGGGCTGCCACG	0.547													2	4	---	---	---	---					
CYGB	114757	broad.mit.edu	37	17	74533782	74533783	+	Splice_Site	DEL	GT	GT	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:74533782_74533783delGT	uc002jru.1	-	1	1	c.-157_splice	c.e1-1		PRCD_uc002jrw.1_Intron|PRCD_uc002jrx.2_5'Flank	NM_134268	NP_599030	Q8WWM9	CYGB_HUMAN	Homo sapiens cytoglobin (CYGB), mRNA.						response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						TGCGCGCCGGgtgtgtgtgtgt	0.728													2	4	---	---	---	---					
TTC28-AS1	284900	broad.mit.edu	37	22	28318100	28318100	+	RNA	DEL	A	A	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr22:28318100delA	uc003adn.3	+	1		c.265delA			PITPNB_uc011akh.2_5'Flank|PITPNB_uc003adk.3_5'Flank|PITPNB_uc003adl.3_5'Flank|TTC28-AS1_uc003ado.3_Intron|MIR3199-1_uc021wnm.1_5'Flank					Homo sapiens TTC28 antisense RNA 1 (non-protein coding) (TTC28-AS1), transcript variant 2, non-coding RNA.																		ACATATAAAGAAAAAGACAAA	0.363													2	4	---	---	---	---					
