Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PIDD	55367	broad.mit.edu	37	11	800359	800359	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:800359G>A	uc001lro.2	-	12	2281	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	SLC25A22_uc009yci.3_5'Flank|SLC25A22_uc001lrj.3_5'Flank|PIDD_uc009yck.1_Intron|PIDD_uc001lrl.1_Missense_Mutation_p.R555W|PIDD_uc001lrm.1_Missense_Mutation_p.R399W|PIDD_uc001lrn.2_Missense_Mutation_p.R555W|PIDD_uc001lrk.2_Intron|PIDD_uc001lrp.2_Intron	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	712					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										TGAGCCTCCCGGTCCAGAGTG	0.632000														81			36		0	0	0.017118	0	0
SPIB	6689	broad.mit.edu	37	19	50926144	50926144	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50926144G>A	uc002psd.3	+	3	214	c.189G>A	c.(187-189)ccG>ccA	p.P63P	SPIB_uc021uyc.1_Missense_Mutation_p.R44Q|SPIB_uc002pse.3_Silent_p.P63P|SPIB_uc010ycc.2_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	63					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	p.P63Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTTCGACCCGGCAGCAGCCG	0.662000														136			50		0	0	0.014410	0	0
XPOT	11260	broad.mit.edu	37	12	64825542	64825542	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:64825542G>A	uc001ssb.3	+	17	2707	c.2201G>A	c.(2200-2202)tGt>tAt	p.C734Y		NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	734	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CTCAAAGATTGTGAAGCAAAA	0.413000														89			41		0	0	0.007835	0	0
NTN3	4917	broad.mit.edu	37	16	2522180	2522180	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2522180C>T	uc002cqj.3	+	0	681	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	TBC1D24_uc002cql.3_5'Flank|TBC1D24_uc002cqk.3_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	160	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		p.R160H(1)		breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGACTATGGCCGTCTGCCTGC	0.697000														44			18		0	0	0.008871	0	0
CARD6	84674	broad.mit.edu	37	5	40854138	40854138	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:40854138G>C	uc003jmg.3	+	2	2779	c.2704G>C	c.(2704-2706)Gca>Cca	p.A902P		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	902					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTTTCAACCAGCAGCAGCCAC	0.483000														119			73		0	0	0.014410	0	0
NLRP2	55655	broad.mit.edu	37	19	55493635	55493635	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55493635A>T	uc021vbq.1	+	5	680	c.569A>T	c.(568-570)aAg>aTg	p.K190M	NLRP2_uc010yfp.2_Missense_Mutation_p.K167M|NLRP2_uc002qij.3_Missense_Mutation_p.K190M|NLRP2_uc010esp.3_Missense_Mutation_p.K168M|NLRP2_uc010esn.3_Missense_Mutation_p.K166M|NLRP2_uc010eso.3_Missense_Mutation_p.K187M	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	190					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGAGATACAAGATGCTGATC	0.542000														168			56		0	0	0.014410	0	0
EXT2	2132	broad.mit.edu	37	11	44255740	44255740	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:44255740G>C	uc001mya.3	+	11	2037	c.1981G>C	c.(1981-1983)Gat>Cat	p.D661H	EXT2_uc010rfo.2_Missense_Mutation_p.D656H|EXT2_uc009ykt.3_Missense_Mutation_p.D638H|EXT2_uc001mxz.3_Missense_Mutation_p.D628H	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	628					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GAACTGTGAAGATATTGCCAT	0.428000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					41			17		0	0	0.007413	0	0
NCOR2	9612	broad.mit.edu	37	12	124826571	124826571	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:124826571C>T	uc021rga.1	-	33	5124	c.5007G>A	c.(5005-5007)ccG>ccA	p.P1669P	NCOR2_uc021rgb.1_Silent_p.P1653P|NCOR2_uc010tbb.2_Silent_p.P1662P|NCOR2_uc010tbc.2_Silent_p.P1652P|NCOR2_uc021rgc.1_Silent_p.P1652P|NCOR2_uc010tba.2_Silent_p.P1670P|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1670					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTACAGGTGCGGGTAGGTGG	0.652000														55			24		0	0	0.014323	0	0
ZNF618	114991	broad.mit.edu	37	9	116811427	116811427	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:116811427C>T	uc004bid.3	+	14	1944	c.1845C>T	c.(1843-1845)taC>taT	p.Y615Y	ZNF618_uc004bic.3_Silent_p.Y522Y|ZNF618_uc011lxi.2_Silent_p.Y582Y|ZNF618_uc011lxj.2_Silent_p.Y583Y|ZNF618_uc010mvb.3_Silent_p.Y205Y	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGACAGTGTACGTGACGGATT	0.612000														195			27		0	0	0.010818	0	0
DYNLRB1	83658	broad.mit.edu	37	20	33122560	33122560	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:33122560C>T	uc002xal.3	+	2	268	c.208C>T	c.(208-210)Cga>Tga	p.R70*	DYNLRB1_uc010zuk.2_Nonsense_Mutation_p.R70*	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.	70					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						CACCTTCCTTCGAATTCGCTC	0.537000														58			45		0	0	0.014410	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232574983	232574983	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:232574983G>A	uc001hvg.3	-	12	4060	c.3902C>T	c.(3901-3903)gCc>gTc	p.A1301V	SIPA1L2_uc001hvf.3_Missense_Mutation_p.A375V	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1301					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGAGACGTCGGCAGCATCAGC	0.667000														137			12		0	0	0.010729	0	0
EGF	1950	broad.mit.edu	37	4	110915913	110915913	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:110915913G>T	uc003hzy.4	+	19	3334	c.2882G>T	c.(2881-2883)aGg>aTg	p.R961M	EGF_uc011cfu.2_Missense_Mutation_p.R919M|EGF_uc011cfv.2_Missense_Mutation_p.R920M|EGF_uc010imk.3_Missense_Mutation_p.R109M	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	961					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.R961R(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCTCACCTCAGGGAAGATGAC	0.428000														152			35		1.90571e-15	1.94522e-15	0.019004	1	0
PEX3	8504	broad.mit.edu	37	6	143793364	143793364	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:143793364G>A	uc003qjl.3	+	7	908	c.646G>A	c.(646-648)Gtt>Att	p.V216I	PEX3_uc011edx.1_Missense_Mutation_p.V216I	NM_003630	NP_003621	P56589	PEX3_HUMAN	Homo sapiens peroxisomal biogenesis factor 3 (PEX3), mRNA.	216					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		CAGAAATCTCGTTGAGCAGCA	0.348000														18			38		0	0	0.010771	0	0
PRIC285	85441	broad.mit.edu	37	20	62195519	62195519	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62195519C>T	uc002yfm.2	-	8	5548	c.4656G>A	c.(4654-4656)ctG>ctA	p.L1552L	PRIC285_uc002yfl.1_Silent_p.L983L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1552					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCTGCCACCGCAGAGGCGTGA	0.647000														35			12		0	0	0.016723	0	0
MUC5B	727897	broad.mit.edu	37	11	1265465	1265465	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1265465C>T	uc001lta.3	+	30	7414	c.7355C>T	c.(7354-7356)aCg>aTg	p.T2452M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2452	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTGGATCCACGGCCACCCCG	0.667000														162			35		0	0	0.014410	0	0
MYOF	26509	broad.mit.edu	37	10	95095762	95095762	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:95095762G>A	uc001kin.3	-	40	4602	c.4479C>T	c.(4477-4479)ggC>ggT	p.G1493G	MYOF_uc001kio.3_Silent_p.G1480G|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1493					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGTCTGTCAGGCCCTCAAATT	0.383000														148			7		0	0	0.001984	0	0
CDH15	1013	broad.mit.edu	37	16	89256813	89256813	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89256813C>T	uc002fmt.3	+	7	1218	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	381	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.R381Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GAACCCACTTCGGACCAGCCT	0.687000														27			6		0	0	0.003080	0	0
SFR1	119392	broad.mit.edu	37	10	105883598	105883598	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105883598G>A	uc001kxv.3	+	1	1025	c.448G>A	c.(448-450)Gca>Aca	p.A150T	SFR1_uc001kxs.3_Missense_Mutation_p.A75T|SFR1_uc001kxt.3_Missense_Mutation_p.A42T|SFR1_uc001kxu.3_Missense_Mutation_p.A88T	NM_145247	NP_660290	Q86XK3	SFR1_HUMAN	Homo sapiens SWI5-dependent recombination repair 1 (SFR1), transcript variant 2, mRNA.	88					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										AGAGAAACCAGCATCTTCCAC	0.299000														79			8		0	0	0.004482	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135101799	135101799	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:135101799T>C	uc010qvc.1	-	11	1997	c.1640A>G	c.(1639-1641)tAc>tGc	p.Y547C	TUBGCP2_uc001lmf.1_Missense_Mutation_p.Y112C|TUBGCP2_uc001lmg.1_Missense_Mutation_p.Y519C|TUBGCP2_uc010qvd.1_Missense_Mutation_p.Y389C|TUBGCP2_uc009ybk.1_Missense_Mutation_p.Y519C|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	519					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CATGAGGAAGTAGCGCTTGAT	0.682000														53			15		0	0	0.024245	0	0
RAB7L1	8934	broad.mit.edu	37	1	205740772	205740772	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:205740772C>T	uc001hdf.4	-	3	546	c.206G>A	c.(205-207)cGc>cAc	p.R69H	RAB7L1_uc009xbp.3_5'UTR|RAB7L1_uc001hde.4_Missense_Mutation_p.R69H|RAB7L1_uc010prr.2_Missense_Mutation_p.R45H|RAB7L1_uc009xbq.3_Intron	NM_003929	NP_001129136	O14966	RAB7L_HUMAN	Homo sapiens RAB7, member RAS oncogene family-like 1 (RAB7L1), transcript variant 1, mRNA.	69					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.E68Q(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGAGGTGAAGCGCTCCTGCCC	0.517000														91			62		0	0	0.014410	0	0
R3HDM1	23518	broad.mit.edu	37	2	136481617	136481617	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:136481617C>T	uc002tuo.3	+	25	3425	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	R3HDM1_uc010fni.3_Missense_Mutation_p.R1018W|R3HDM1_uc002tup.3_Missense_Mutation_p.R964W|R3HDM1_uc010zbh.2_Missense_Mutation_p.R767W	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	1019							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCGGTGGCTCCGGGACCCCCA	0.542000														80			93		0	0	0.014410	0	0
OR51G1	79324	broad.mit.edu	37	11	4944910	4944910	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:4944910G>A	uc010qyr.2	-	0	660	c.660C>T	c.(658-660)taC>taT	p.Y220Y		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y220*(2)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGAGGGCGTATGAGAGAA	0.547000														89			26		0	0	0.024334	0	0
CCL20	6364	broad.mit.edu	37	2	228678691	228678691	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:228678691G>A	uc002vpl.2	+	0	134	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	CCL20_uc002vpm.2_Missense_Mutation_p.G22S	NM_004591	NP_004582	P78556	CCL20_HUMAN	Homo sapiens chemokine (C-C motif) ligand 20 (CCL20), transcript variant 1, mRNA.	22					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CCACCTCTGCGGCGAATCAGA	0.473000														258			24		0	0	0.021523	0	0
FBN3	84467	broad.mit.edu	37	19	8201185	8201185	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8201185C>T	uc002mjf.3	-	10	1371	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	452	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGGTGCATTCGTCTACATCT	0.677000														103			37		0	0	0.021022	0	0
C7orf42	55069	broad.mit.edu	37	7	66415965	66415965	+	Missense_Mutation	SNP	C	T	T	rs143613938	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:66415965C>T	uc003tvk.3	+	4	887	c.623C>T	c.(622-624)aCg>aTg	p.T208M	C7orf42_uc010lah.3_Intron	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.	208						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						GTTCCTGACACGTACAGCAAC	0.522000														277			60		0	0	0.014410	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748335	68748335	+	Missense_Mutation	SNP	C	T	T	rs144924033		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:68748335C>T	uc010rqf.2	-	0	121	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	41						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C40C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTGCCATCCCGCACAGGCAG	0.597000														53			53		0	0	0.014410	0	0
RYR1	6261	broad.mit.edu	37	19	38974156	38974156	+	Splice_Site	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:38974156G>A	uc002oit.3	+	33	5064	c.4934_splice	c.e33+1	p.R1645_splice	RYR1_uc002oiu.3_Splice_Site_p.R1645_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1645	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGGAGAACCGGTCAGGGCCA	0.687000														5			5		0	0	0.014758	0	0
IGFN1	91156	broad.mit.edu	37	1	201184276	201184276	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201184276G>A	uc001gwc.3	+	13	9119	c.8989G>A	c.(8989-8991)Gtc>Atc	p.V2997I	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CACCCTGACCGTCCAGGGTAA	0.587000														37			26		0	0	0.018920	0	0
NLRP7	199713	broad.mit.edu	37	19	55451430	55451430	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55451430C>T	uc002qih.4	-	3	833	c.757G>A	c.(757-759)Gat>Aat	p.D253N	NLRP7_uc010esk.3_Missense_Mutation_p.D253N|NLRP7_uc002qig.4_Missense_Mutation_p.D253N|NLRP7_uc002qii.4_Missense_Mutation_p.D253N|NLRP7_uc010esl.3_Missense_Mutation_p.D281N	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	253	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAAGGCCATCGACCACGAAC	0.567000														98			94		0	0	0.014410	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202914187	202914187	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:202914187C>T	uc001gyq.4	-	4	808	c.541G>A	c.(541-543)Gtg>Atg	p.V181M	ADIPOR1_uc010pqd.2_Missense_Mutation_p.V105M|ADIPOR1_uc001gyr.4_Intron|ADIPOR1_uc001gys.4_Missense_Mutation_p.V181M	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	181					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGCAGAGCACTGCACCCAAA	0.448000														77			52		0	0	0.014410	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972726	92972726	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:92972726C>T	uc022axs.1	-	11	1923	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R493H|RUNX1T1_uc010mam.3_Missense_Mutation_p.R493H|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R483H|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R520H|RUNX1T1_uc022axo.1_Missense_Mutation_p.R520H|RUNX1T1_uc010mao.3_Missense_Mutation_p.R493H|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R531H|RUNX1T1_uc022axp.1_Missense_Mutation_p.R520H|RUNX1T1_uc022axq.1_Missense_Mutation_p.R520H|RUNX1T1_uc022axr.1_Missense_Mutation_p.R520H|RUNX1T1_uc022axt.1_Missense_Mutation_p.R520H|RUNX1T1_uc022axu.1_Missense_Mutation_p.R500H|RUNX1T1_uc022axv.1_Missense_Mutation_p.R520H|RUNX1T1_uc010man.2_Missense_Mutation_p.R145H|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R483H	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	520					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R483H(2)|p.R520H(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACTCGCTTTACGGCCACAATT	0.458000														39			23		0	0	0.018920	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072860	15072860	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15072860C>T	uc002naa.1	-	4	896	c.889G>A	c.(889-891)Gac>Aac	p.D297N	SLC1A6_uc010dzu.1_Missense_Mutation_p.D297N|SLC1A6_uc010xod.1_Missense_Mutation_p.D233N|SLC1A6_uc002nab.3_Missense_Mutation_p.D297N|SLC1A6_uc002nac.3_Missense_Mutation_p.D297N	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	297					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TTGAGGCTGTCGAAGAAGTCC	0.572000														101			75		0	0	0.014410	0	0
TRIM54	57159	broad.mit.edu	37	2	27529116	27529116	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:27529116G>A	uc002rjo.3	+	6	1205	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	TRIM54_uc002rjn.3_Missense_Mutation_p.R343Q	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	301	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGCAGGGCGGCCGGAGCCA	0.642000														111			51		0	0	0.014410	0	0
MAN2A2	4122	broad.mit.edu	37	15	91455396	91455396	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:91455396G>A	uc010bnz.2	+	14	2348	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I	MAN2A2_uc002bqc.3_Missense_Mutation_p.V745I|MAN2A2_uc010uql.2_Missense_Mutation_p.V407I|MAN2A2_uc010uqm.2_Missense_Mutation_p.V324I|MAN2A2_uc010uqn.1_Non-coding_Transcript	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	745					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGCTGTCCGTCAGCAGGCA	0.647000														170			45		0	0	0.011902	0	0
SPTB	6710	broad.mit.edu	37	14	65253771	65253771	+	Missense_Mutation	SNP	G	A	A	rs138556050		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:65253771G>A	uc001xht.3	-	14	2963	c.2912C>T	c.(2911-2913)aCg>aTg	p.T971M	SPTB_uc001xhr.3_Missense_Mutation_p.T971M|SPTB_uc001xhs.3_Missense_Mutation_p.T971M|SPTB_uc001xhu.3_Missense_Mutation_p.T971M	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	971					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.T971M(4)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTCTTGTCCGTGATCCACTT	0.592000														10			42		0	0	0.007835	0	0
CDH22	64405	broad.mit.edu	37	20	44838993	44838993	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:44838993G>A	uc002xrm.2	-	5	1638	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	CDH22_uc010ghk.1_Silent_p.V413V|CDH22_uc002xrn.2_Silent_p.V164V	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	413	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCACGCCGACCAGGGAGC	0.771000														4			6		0	0	0.021553	0	0
NAV1	89796	broad.mit.edu	37	1	201757608	201757608	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201757608C>T	uc021phi.1	+	9	3355	c.3008C>T	c.(3007-3009)gCg>gTg	p.A1003V	NAV1_uc001gwu.3_Missense_Mutation_p.A1003V|NAV1_uc001gwv.1_Missense_Mutation_p.A511V|NAV1_uc001gww.2_Missense_Mutation_p.A612V|NAV1_uc001gwx.3_Missense_Mutation_p.A612V|NAV1_uc001gwy.1_Missense_Mutation_p.A384V	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1003					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGTCCCACTGCGGCCACCACG	0.652000														202			12		0	0	0.010729	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250283	1250283	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1250283G>A	uc002cks.3	+	6	1079	c.831G>A	c.(829-831)ccG>ccA	p.P277P	CACNA1H_uc002ckt.3_Silent_p.P277P	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	277					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCCTGCGGCCGTACTACCAGA	0.632000														25			3		0	0	0.009096	0	0
MAPK9	5601	broad.mit.edu	37	5	179676062	179676062	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:179676062G>A	uc003mls.4	-	5	798	c.527C>T	c.(526-528)gCg>gTg	p.A176V	MAPK9_uc003mlv.4_Missense_Mutation_p.A176V|MAPK9_uc003mlt.4_Missense_Mutation_p.A176V|MAPK9_uc010jlc.3_Missense_Mutation_p.A176V|MAPK9_uc021yji.1_Missense_Mutation_p.A150V|MAPK9_uc021yjj.1_Missense_Mutation_p.A176V|MAPK9_uc021yjk.1_Missense_Mutation_p.A176V|MAPK9_uc021yjl.1_Missense_Mutation_p.A176V|MAPK9_uc011dgx.2_Missense_Mutation_p.A176V	NM_002752	NP_002743	P45984	MK09_HUMAN	Homo sapiens mitogen-activated protein kinase 9 (MAPK9), transcript variant JNK2-a2, mRNA.	176	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTAGTGCACGCTGTCCGGGC	0.498000														161			128		0	0	0.014410	0	0
MLXIPL	51085	broad.mit.edu	37	7	73013863	73013863	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:73013863C>T	uc003tyn.1	-	7	1112	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	MLXIPL_uc003tyj.1_5'Flank|MLXIPL_uc003tyk.1_Missense_Mutation_p.R355H|MLXIPL_uc003tym.1_Missense_Mutation_p.R355H|MLXIPL_uc003tyl.1_Missense_Mutation_p.R355H|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.R262H|MLXIPL_uc003tyq.1_Missense_Mutation_p.R97H	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	355					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACCTGCAGACGGCTGTGTCC	0.632000														90			47		0	0	0.014410	0	0
HLA-J	3137	broad.mit.edu	37	6	29857360	29857360	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:29857360G>A	uc021ytx.1	+	0	256	c.238G>A	c.(238-240)Gag>Aag	p.E80K	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Missense_Mutation_p.E80K|HLA-G_uc021ytv.1_3'UTR|HLA-G_uc010jro.3_3'UTR					Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.																		GGGTCTGCCCGAGCCCCTCAC	0.612000														11			4		0	0	0.009096	0	0
PREX1	57580	broad.mit.edu	37	20	47266679	47266679	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:47266679C>T	uc002xtw.1	-	23	2906	c.2883G>A	c.(2881-2883)ccG>ccA	p.P961P	PREX1_uc002xtv.1_Silent_p.P258P	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	961					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCACACAGCGGGTGGGGCT	0.592000														163			78		0	0	0.014410	0	0
NEK8	284086	broad.mit.edu	37	17	27065189	27065189	+	Missense_Mutation	SNP	G	A	A	rs138066977		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:27065189G>A	uc002hcp.3	+	7	1148	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	383						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A383A(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TTCATCTCGCGTTTCCTGGAG	0.657000														51			18		0	0	0.008871	0	0
ZNF691	51058	broad.mit.edu	37	1	43317024	43317024	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:43317024G>A	uc021omh.1	+	3	790	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	ZNF691_uc001cig.3_Missense_Mutation_p.R132Q|ZNF691_uc009vwm.3_Missense_Mutation_p.R152Q|ZNF691_uc001cih.3_Missense_Mutation_p.R159Q|ZNF691_uc021omi.1_Missense_Mutation_p.R132Q	NM_001242739	NP_001229668	Q5VV52	ZN691_HUMAN	Homo sapiens zinc finger protein 691 (ZNF691), transcript variant 1, mRNA.	163						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCACGAGCGGATCCACCTG	0.562000														62			40		0	0	0.021022	0	0
MGAM	8972	broad.mit.edu	37	7	141724872	141724872	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:141724872C>T	uc003vwy.3	+	7	959	c.905C>T	c.(904-906)gCg>gTg	p.A302V		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	302	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGTATGGTGCGCAGACATTC	0.398000														44			19		0	0	0.021523	0	0
STOX1	219736	broad.mit.edu	37	10	70645798	70645798	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:70645798G>A	uc001jos.2	+	2	2333	c.2246G>A	c.(2245-2247)cGt>cAt	p.R749H	STOX1_uc001joq.3_Missense_Mutation_p.R639H|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.R639H	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	749						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GACGACTTACGTCAAATGCTG	0.438000														78			28		0	0	0.027356	0	0
MLH1	4292	broad.mit.edu	37	3	37038172	37038172	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:37038172A>C	uc003cgl.3	+	1	377	c.179A>C	c.(178-180)cAg>cCg	p.Q60P	MLH1_uc011aye.2_5'UTR|MLH1_uc011ayb.2_Intron|MLH1_uc010hge.3_Missense_Mutation_p.Q60P|MLH1_uc011ayc.2_5'UTR|MLH1_uc011ayd.2_5'UTR|MLH1_uc003cgo.3_5'UTR|MLH1_uc003cgn.4_5'UTR	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	60					mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AAGTTGATTCAGATCCAAGAC	0.413000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					11			51		0	0	0.014410	0	0
FBN3	84467	broad.mit.edu	37	19	8188415	8188415	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8188415C>T	uc002mjf.3	-	22	3032	c.3015G>A	c.(3013-3015)acG>acA	p.T1005T		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1005	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCTGCCCACCGTGTTTCTGC	0.607000														35			40		0	0	0.008740	0	0
DDN	23109	broad.mit.edu	37	12	49392947	49392947	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49392947A>G	uc001rsv.1	-	0	142	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	42						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TAATGACAGGAAATAGTCTTC	0.607000														44			27		0	0	0.027356	0	0
OR51B4	79339	broad.mit.edu	37	11	5322671	5322671	+	Missense_Mutation	SNP	C	T	T	rs115916434	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:5322671C>T	uc010qza.2	-	0	506	c.506G>A	c.(505-507)cGt>cAt	p.R169H	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S168S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGAGGGCACGGGAACCACA	0.423000														70			52		0	0	0.014410	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908573	48908573	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:48908573G>A	uc002pjc.4	+	2	1136	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	350						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CGACTGTCGCGCCCAGAACCG	0.652000														7			17		0	0	0.006122	0	0
CENPT	80152	broad.mit.edu	37	16	67863714	67863714	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67863714G>A	uc002eun.4	-	11	1689	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	CENPT_uc010vkc.2_Silent_p.D138D|CENPT_uc010vkd.1_Silent_p.D133D|CENPT_uc010vke.1_3'UTR	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	Homo sapiens centromere protein T (CENPT), mRNA.	380					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTCCTGGCCCGTCAGCCTCAG	0.612000														149			57		0	0	0.014410	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40869	40869	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrGL000218.1:40869G>A	uc011mfn.2	-	2	150	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	LOC100233156_uc003jah.2_Missense_Mutation_p.R21C					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GAGGCGCTGCGGGGCTGGGGA	0.682000														11			3		0	0	0.009096	0	0
SPEG	10290	broad.mit.edu	37	2	220334066	220334066	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:220334066G>A	uc010fwg.3	+	12	3680	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1227	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AATGGCCACCGCATCCAGAGC	0.642000														37			36		0	0	0.025465	0	0
AGBL1	123624	broad.mit.edu	37	15	86800128	86800128	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:86800128G>A	uc002blz.1	+	6	722	c.642G>A	c.(640-642)gtG>gtA	p.V214V		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	214					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTCTGTGGTGCTTCAGATCC	0.562000														39			8		0	0	0.006214	0	0
ZNF844	284391	broad.mit.edu	37	19	12186611	12186611	+	Missense_Mutation	SNP	A	G	G	rs7259684	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12186611A>G	uc002mtb.2	+	3	819	c.676A>G	c.(676-678)Aaa>Gaa	p.K226E	ZNF844_uc010dym.1_Missense_Mutation_p.K69E	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	226			K -> E (in dbSNP:rs7259684).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAAACCATATAAATGTAAACA	0.373000														24			3		0	0	0.004672	0	0
MICAL3	57553	broad.mit.edu	37	22	18387494	18387494	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:18387494C>T	uc002zng.4	-	2	729	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	MICAL3_uc011agl.2_Missense_Mutation_p.V126I|MICAL3_uc002znh.2_Missense_Mutation_p.V126I|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Missense_Mutation_p.V126I|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.3_Missense_Mutation_p.V126I|MICAL3_uc011agm.1_Missense_Mutation_p.V126I	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	126						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGATGCAAGACGTTGTTGCGG	0.522000														254			36		0	0	0.015359	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651877	128651877	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:128651877C>T	uc003ifl.3	+	0	323	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	59					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						AGATCAGCCCCGAGGCGCGGT	0.701000														50			37		0	0	0.025465	0	0
LILRB4	11006	broad.mit.edu	37	19	55175317	55175317	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55175317G>A	uc002qgp.3	+	2	538	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB4_uc002qgo.1_Missense_Mutation_p.R100H|LILRB4_uc002qgq.3_Missense_Mutation_p.R59H|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Missense_Mutation_p.R100H|LILRB4_uc010eru.3_Missense_Mutation_p.R88H	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	59	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CGGGAGTACCGTCTGGATAAA	0.587000														117			85		0	0	0.014410	0	0
RBM33	155435	broad.mit.edu	37	7	155457901	155457901	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:155457901G>A	uc010lqk.1	+	1	444	c.76G>A	c.(76-78)Gcg>Acg	p.A26T	RBM33_uc003wme.3_Missense_Mutation_p.A26T	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	26							RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TAAGCCTGGCGCGGAACGGTC	0.453000														59			41		0	0	0.013114	0	0
FLT4	2324	broad.mit.edu	37	5	180046723	180046723	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:180046723G>A	uc003mlz.4	-	17	2668	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	FLT4_uc003mma.4_Silent_p.S863S|FLT4_uc003mmb.1_Silent_p.S396S	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	863	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCGAAAGCGGAGGCTTCCA	0.657000														160			84		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179430304	179430304	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179430304C>T	uc021vsy.1	-	274	73076	c.72851G>A	c.(72850-72852)cGt>cAt	p.R24284H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R17979H|TTN_uc021vta.1_Missense_Mutation_p.R17912H|TTN_uc021vtb.1_Missense_Mutation_p.R17787H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25211	Fibronectin type-III 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTTGACACGGAACTGATA	0.418000														193			74		0	0	0.014410	0	0
MYO18B	84700	broad.mit.edu	37	22	26164580	26164580	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:26164580A>G	uc003abz.1	+	3	947	c.697A>G	c.(697-699)Aaa>Gaa	p.K233E	MYO18B_uc003aca.1_Missense_Mutation_p.K114E|MYO18B_uc010guy.1_Missense_Mutation_p.K114E|MYO18B_uc010guz.1_Missense_Mutation_p.K114E|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	233						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCACTGAAAAAAGGCGAGGA	0.617000														16			4		0	0	0.009096	0	0
ANXA9	8416	broad.mit.edu	37	1	150967084	150967084	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:150967084G>A	uc001ewa.2	+	12	1354	c.884G>A	c.(883-885)cGc>cAc	p.R295H		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	295					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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)			GTCCTGATTCGCATCCTTATC	0.468000														201			117		0	0	0.014410	0	0
GGCT	79017	broad.mit.edu	37	7	30538452	30538452	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:30538452G>A	uc003tba.3	-	2	522	c.390C>T	c.(388-390)taC>taT	p.Y130Y	GGCT_uc022abe.1_Intron|GGCT_uc003tbb.3_Intron|GGCT_uc003tbc.3_Non-coding_Transcript|GGCT_uc022abf.1_Intron|GGCT_uc003taz.3_Silent_p.Y69Y	NM_024051	NP_076956	O75223	GGCT_HUMAN	Homo sapiens gamma-glutamylcyclotransferase (GGCT), transcript variant 1, mRNA.	130					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	p.Y130*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GAGCACTTTCGTAATTTGTCA	0.338000														94			63		0	0	0.014410	0	0
HEPH	9843	broad.mit.edu	37	X	65427138	65427138	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:65427138G>A	uc011moz.2	+	13	2692	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q	HEPH_uc004dwn.3_Missense_Mutation_p.R801Q|HEPH_uc004dwo.3_Missense_Mutation_p.R531Q|HEPH_uc010nkr.3_Missense_Mutation_p.R609Q|HEPH_uc011mpa.2_Missense_Mutation_p.R801Q|HEPH_uc010nks.3_Missense_Mutation_p.R90Q	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	798	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.A852V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATCCCTCGGCCAAGGACT	0.478000														18			5		0	0	0.014758	0	0
LOC554223	554223	broad.mit.edu	37	6	29759996	29759996	+	Missense_Mutation	SNP	T	C	C	rs1610645	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:29759996T>C	uc003nnt.3	+	0	314	c.212T>C	c.(211-213)tTc>tCc	p.F71S	HCG4_uc003nns.3_Non-coding_Transcript|LOC554223_uc010jrm.1_Intron	NM_001207043	NP_001193972	Q86V94	Q86V94_HUMAN	Homo sapiens histocompatibility antigen-related (LOC554223), mRNA.	71					antigen processing and presentation|immune response	MHC class I protein complex											CTCCGATTCTTCCCAGTCGCC	0.622000														11			2		0	0	0.004672	0	0
PLEC	5339	broad.mit.edu	37	8	144991396	144991396	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144991396C>T	uc003zaf.1	-	31	13174	c.13004G>A	c.(13003-13005)cGc>cAc	p.R4335H	PLEC_uc003zab.1_Missense_Mutation_p.R4198H|PLEC_uc003zac.1_Missense_Mutation_p.R4202H|PLEC_uc003zad.2_Missense_Mutation_p.R4198H|PLEC_uc003zae.1_Missense_Mutation_p.R4166H|PLEC_uc003zag.1_Missense_Mutation_p.R4176H|PLEC_uc003zah.2_Missense_Mutation_p.R4184H|PLEC_uc003zaj.2_Missense_Mutation_p.R4225H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4335	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCCCGGAGCGGCGGTCGAT	0.637000														47			21		0	0	0.014323	0	0
MAN2B2	23324	broad.mit.edu	37	4	6588894	6588894	+	Splice_Site	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:6588894G>A	uc003gjf.1	+	4	600	c.564_splice	c.e4+1	p.R188_splice	MAN2B2_uc003gje.1_Splice_Site_p.R188_splice|MAN2B2_uc011bwf.1_Splice_Site_p.R188_splice	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	188					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CAGGAGGCCCGGGTGAGTGGT	0.642000														42			22		0	0	0.016522	0	0
PGLYRP1	8993	broad.mit.edu	37	19	46522887	46522887	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:46522887G>A	uc002pdx.2	-	1	583	c.306C>T	c.(304-306)gaC>gaT	p.D102D		NM_005091	NP_005082	O75594	PGRP1_HUMAN	Homo sapiens peptidoglycan recognition protein 1 (PGLYRP1), mRNA.	102					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	N-acetylmuramoyl-L-alanine amidase activity|bacterial cell surface binding|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		ATACGAGCCCGTCTTCTCCAA	0.592000														34			28		0	0	0.007291	0	0
SOAT1	6646	broad.mit.edu	37	1	179310292	179310292	+	Silent	SNP	C	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:179310292C>G	uc001gml.3	+	6	858	c.627C>G	c.(625-627)ggC>ggG	p.G209G	SOAT1_uc010pni.2_Silent_p.G144G|SOAT1_uc001gmm.3_Silent_p.G151G|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Silent_p.G144G	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	209					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGGCCACTGGCTATAGCAAGA	0.428000														183			98		0	0	0.014410	0	0
ABCA3	21	broad.mit.edu	37	16	2367755	2367755	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2367755C>T	uc002cpy.1	-	8	1596	c.884G>A	c.(883-885)cGc>cAc	p.R295H	ABCA3_uc010bsk.1_Missense_Mutation_p.R295H|ABCA3_uc010bsl.1_Missense_Mutation_p.R295H	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	295					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCCCATCATGCGCATGTACTC	0.627000														62			51		0	0	0.014410	0	0
KIF1A	547	broad.mit.edu	37	2	241680733	241680733	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241680733G>A	uc010fzk.3	-	34	3949	c.3702C>T	c.(3700-3702)taC>taT	p.Y1234Y	KIF1A_uc002vzy.3_Silent_p.Y1133Y|KIF1A_uc002vzz.2_Silent_p.Y1234Y	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1133					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCAGCAGGTCGTACTTGCAGT	0.662000														14			11		0	0	0.010729	0	0
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7577138C>T	uc002gim.2	-	7	994	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R267Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R135Q|TP53_uc010cnf.1_Missense_Mutation_p.R135Q|TP53_uc002gii.1_Missense_Mutation_p.R135Q|TP53_uc010cni.1_Missense_Mutation_p.R267Q|TP53_uc010cnh.1_Missense_Mutation_p.R267Q|TP53_uc002gij.2_Missense_Mutation_p.R267Q|DL476366_uc021tpf.1_5'Flank|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.	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.G266E(49)|p.G266R(45)|p.G266V(36)|p.R267P(32)|p.R267W(23)|p.R267Q(20)|p.G266*(13)|p.R267L(10)|p.0?(8)|p.G266fs*79(5)|p.R267R(5)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.N268fs*77(3)|p.?(3)|p.G266_N268delGRN(2)|p.G266A(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.G266T(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.G262fs*2(1)|p.R267G(1)|p.R267fs*78(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)		AAAGCTGTTCCGTCCCAGTAG	0.527000		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)				14			40		0	0	0.025465	0	0
ARVCF	421	broad.mit.edu	37	22	19960526	19960526	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:19960526G>A	uc002zqz.3	-	14	2742	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	ARVCF_uc002zqy.3_Silent_p.H340H	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	824					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCTGCAGCACGTGTGACGCCG	0.672000														164			49		0	0	0.014410	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951822	46951822	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:46951822C>T	uc002zhl.2	-	2	583	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	SLC19A1_uc010gpy.1_Missense_Mutation_p.V144M|SLC19A1_uc011aft.2_Missense_Mutation_p.V104M|SLC19A1_uc002zhm.2_Missense_Mutation_p.V144M|SLC19A1_uc010gpz.2_Missense_Mutation_p.V23M	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	144					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCGGGCCGCACGAGAGAGAAG	0.667000														9			5		0	0	0.021553	0	0
TRPM5	29850	broad.mit.edu	37	11	2428525	2428525	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:2428525G>A	uc010qxl.2	-	19	2951	c.2942C>T	c.(2941-2943)aCg>aTg	p.T981M	TRPM5_uc001lwm.4_Missense_Mutation_p.T981M|TRPM5_uc009ydn.3_Missense_Mutation_p.T983M	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	981						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACCTGGAACGTGTAGCTGCA	0.642000														15			18		0	0	0.008871	0	0
RPUSD1	113000	broad.mit.edu	37	16	836114	836114	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:836114C>T	uc002cka.3	-	4	1009	c.775G>A	c.(775-777)Gac>Aac	p.D259N	RPUSD1_uc002ckb.3_Missense_Mutation_p.D259N|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.	259	Pro-rich.				pseudouridine synthesis		RNA binding|pseudouridine synthase activity			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGGTCAGGGTCGGGGGTGGCC	0.726000														38			51		0	0	0.014410	0	0
CLSTN3	9746	broad.mit.edu	37	12	7310123	7310123	+	Missense_Mutation	SNP	G	A	A	rs138735435		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:7310123G>A	uc001qss.3	+	15	3140	c.2602G>A	c.(2602-2604)Gtg>Atg	p.V868M	CLSTN3_uc001qsr.3_Missense_Mutation_p.V856M|CLSTN3_uc001qst.3_Missense_Mutation_p.V264M	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	856					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.V856M(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGTGGTGTGCGTGGGCTTCCT	0.667000														43			32		0	0	0.017118	0	0
KIAA0430	9665	broad.mit.edu	37	16	15711316	15711316	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:15711316G>A	uc002ddr.3	-	13	3004	c.2797C>T	c.(2797-2799)Cgg>Tgg	p.R933W	KIAA0430_uc002ddq.3_Missense_Mutation_p.R767W|KIAA0430_uc010uzv.2_Missense_Mutation_p.R930W|KIAA0430_uc010uzw.2_Missense_Mutation_p.R933W	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	932						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CACACCAGCCGTCCGTTTCCT	0.512000														56			16		0	0	0.004990	0	0
ZNF416	55659	broad.mit.edu	37	19	58084870	58084870	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58084870C>T	uc002qpf.3	-	3	573	c.402G>A	c.(400-402)gcG>gcA	p.A134A		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GGTGAAAGACCGCACATGCCC	0.502000														51			14		0	0	0.016723	0	0
SGSM3	27352	broad.mit.edu	37	22	40803287	40803287	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40803287C>T	uc003ayu.1	+	11	1532	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	SGSM3_uc011aos.1_Silent_p.R374R|SGSM3_uc011aot.1_Silent_p.R378R	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	441					Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCATCCTGCGCGTGGCACGCC	0.617000														85			43		0	0	0.013114	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769478	140769478	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140769478G>A	uc003lkc.2	+	0	2027	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	680	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACTGACCGCCCCGACCCC	0.617000														279			15		0	0	0.004990	0	0
LPAR3	23566	broad.mit.edu	37	1	85331490	85331490	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:85331490C>T	uc001dkl.2	-	0	353	c.314G>A	c.(313-315)cGt>cAt	p.R105H	LPAR3_uc009wcj.1_Missense_Mutation_p.R105H	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	105					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		p.L104F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGCCCCTGACGGAGAAACCA	0.502000														211			155		0	0	0.014410	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276410	153276410	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:153276410G>A	uc001fbn.1	-	3	505	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	151					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATACCTGGGCGACAGGTGACC	0.552000														58			55		0	0	0.014410	0	0
CXXC11	285093	broad.mit.edu	37	2	242815361	242815361	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242815361G>A	uc010fzu.1	+	1	1677	c.1654G>A	c.(1654-1656)Gtg>Atg	p.V552M		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	552						integral to membrane											GTCCATGACCGTGTGCGTCTT	0.662000														214			101		0	0	0.014410	0	0
KIF27	55582	broad.mit.edu	37	9	86465050	86465050	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:86465050C>T	uc004ana.3	-	15	3664	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	KIF27_uc010mpw.3_Missense_Mutation_p.E1108K|KIF27_uc010mpx.3_Missense_Mutation_p.E1077K	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	1174					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATCTTTTGTTCGTGTTCCTTT	0.423000														161			38		0	0	0.007835	0	0
PITPNM2	57605	broad.mit.edu	37	12	123473364	123473364	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:123473364G>A	uc001uej.1	-	17	2986	c.2787C>T	c.(2785-2787)gaC>gaT	p.D929D	PITPNM2_uc001uek.1_Silent_p.D923D	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	929	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCGTGAGGGCGTCAGGGCAGT	0.642000														15			6		0	0	0.001984	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61288352	61288352	+	Silent	SNP	G	A	A	rs147575435	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:61288352G>A	uc002ydb.1	+	1	751	c.546G>A	c.(544-546)acG>acA	p.T182T		NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	182					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTATGGGCACGGGGTCGCTGG	0.687000														103			13		0	0	0.020292	0	0
TRUB2	26995	broad.mit.edu	37	9	131072049	131072049	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:131072049C>T	uc004buq.1	-	7	786	c.776G>A	c.(775-777)cGc>cAc	p.R259H		NM_015679	NP_056494	O95900	TRUB2_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 2 (E. coli) (TRUB2), mRNA.	259					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GAAGCCGTCGCGCGTGCGCCG	0.582000														54			27		0	0	0.027356	0	0
FAM73A	374986	broad.mit.edu	37	1	78280851	78280851	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:78280851G>A	uc010ork.2	+	6	862	c.830G>A	c.(829-831)cGt>cAt	p.R277H	FAM73A_uc001dhx.3_Missense_Mutation_p.R277H|FAM73A_uc010orl.2_Missense_Mutation_p.R239H|FAM73A_uc001dhy.1_Missense_Mutation_p.R66H	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	277						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGAGCCTATCGTCTCCAAGAG	0.368000														66			9		0	0	0.008291	0	0
PACRGL	133015	broad.mit.edu	37	4	20715162	20715162	+	Splice_Site	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:20715162C>T	uc010iei.1	+	9	999	c.753_splice	c.e9+1	p.S251_splice	PACRGL_uc003gpu.3_Splice_Site|PACRGL_uc003gpz.3_Splice_Site_p.S203_splice|PACRGL_uc011bxm.2_Splice_Site_p.S150_splice|PACRGL_uc003gqa.3_Splice_Site_p.S105_splice|PACRGL_uc010iek.3_Splice_Site_p.S203_splice|PACRGL_uc010iej.1_Splice_Site|PACRGL_uc011bxn.2_Splice_Site_p.S105_splice	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	Homo sapiens PARK2 co-regulated-like (PACRGL), transcript variant 1, mRNA.	203							binding			endometrium(2)|lung(7)|prostate(1)	10						TGCTTACAAGCGTAAGTACTG	0.373000														53			34		0	0	0.017118	0	0
INPP5J	27124	broad.mit.edu	37	22	31522443	31522443	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:31522443C>T	uc003aju.4	+	2	1445	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	INPP5J_uc010gwf.3_Silent_p.D451D|INPP5J_uc003ajw.3_5'UTR|INPP5J_uc003ajt.4_Silent_p.D83D|INPP5J_uc003ajv.4_Silent_p.D84D|INPP5J_uc003ajs.4_Silent_p.D84D|INPP5J_uc011alk.2_Silent_p.D384D|INPP5J_uc010gwg.3_Silent_p.D16D	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	451	Catalytic (Potential).					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCGGTGGTGACGACAGCGACG	0.657000														191			109		0	0	0.014410	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651306	84651306	+	Missense_Mutation	SNP	G	A	A	rs150618994		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:84651306G>A	uc002bjz.4	+	20	3150	c.2926G>A	c.(2926-2928)Gac>Aac	p.D976N	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D976N	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	976	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCTGCCCCCGACATCGGCGT	0.567000														116			68		0	0	0.014410	0	0
TRIM63	84676	broad.mit.edu	37	1	26387782	26387782	+	Missense_Mutation	SNP	C	T	T	rs139426966		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26387782C>T	uc001bli.1	-	2	512	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	Homo sapiens tripartite motif containing 63 (TRIM63), mRNA.	126	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCATCTTCGTGCTCCTTG	0.582000														77			21		0	0	0.016522	0	0
KDM4C	23081	broad.mit.edu	37	9	6990511	6990511	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:6990511G>A	uc003zkh.3	+	11	2353	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A	KDM4C_uc010mhu.2_Silent_p.A613A|KDM4C_uc011lmi.1_Silent_p.A591A|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Silent_p.A591A|KDM4C_uc011lmk.2_Intron|KDM4C_uc011lml.2_Silent_p.A278A	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	591					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGCAGCAGGCGCCAAGTGATG	0.408000														31			5		0	0	0.021553	0	0
LRBA	987	broad.mit.edu	37	4	151829999	151829999	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:151829999T>G	uc010ipj.3	-	9	1416	c.1172A>C	c.(1171-1173)aAa>aCa	p.K391T	LRBA_uc003ilu.4_Missense_Mutation_p.K391T|LRBA_uc010ipk.1_Missense_Mutation_p.K310T	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	391						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCTTTGAATTTAAATGTACC	0.363000														64			19		0	0	0.007413	0	0
ZNF644	84146	broad.mit.edu	37	1	91382483	91382483	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:91382483G>A	uc001dnw.3	-	5	4139	c.3856C>T	c.(3856-3858)Cga>Tga	p.R1286*	ZNF644_uc001dnv.3_Nonsense_Mutation_p.R64*|ZNF644_uc001dnx.3_Nonsense_Mutation_p.R64*	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	1286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACAATATGTCGTTGTAAGTGC	0.423000														50			27		0	0	0.024334	0	0
FBXO34	55030	broad.mit.edu	37	14	55818984	55818984	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:55818984C>T	uc021rtk.1	+	0	1876	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Missense_Mutation_p.R626C|FBXO34_uc010aoo.3_Missense_Mutation_p.R626C	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	626										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCGAGATCCACGCTATAGAGA	0.478000														34			54		0	0	0.014410	0	0
AADACL2	344752	broad.mit.edu	37	3	151461914	151461914	+	Missense_Mutation	SNP	C	T	T	rs145856421		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:151461914C>T	uc003ezc.3	+	2	515	c.395C>T	c.(394-396)aCg>aTg	p.T132M	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	132						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AATAGATGGACGGCAAACACG	0.358000														25			72		0	0	0.014410	0	0
DDX19B	11269	broad.mit.edu	37	16	70400563	70400563	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:70400563C>T	uc002eys.3	+	8	951	c.822C>T	c.(820-822)tcC>tcT	p.S274S	DDX19B_uc010cfq.1_Silent_p.S28S|DDX19B_uc010cfs.3_Silent_p.S96S|DDX19B_uc010vlz.2_Silent_p.S242S|DDX19B_uc002eyv.3_Silent_p.S273S|DDX19B_uc010cfr.3_Silent_p.S123S|DDX19B_uc010vma.2_Silent_p.S183S	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA.	274	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TGCTTTTCTCCGCCACCTTTG	0.562000														92			43		0	0	0.007835	0	0
AK296065	0	broad.mit.edu	37	7	150772200	150772200	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:150772200G>A	uc011kvf.2	-	1	859	c.686C>T	c.(685-687)cCg>cTg	p.P229L	SLC4A2_uc022apz.1_Intron|SLC4A2_uc003wit.4_Intron|SLC4A2_uc011kve.2_Intron|SLC4A2_uc003wiu.4_Intron					SubName: Full=cDNA FLJ59028;																		GCTCTGTAACGGAATTTGAAT	0.602000														3			5		0	0	0.014758	0	0
SHD	56961	broad.mit.edu	37	19	4290594	4290594	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:4290594G>A	uc002lzw.2	+	5	2450	c.987G>A	c.(985-987)ctG>ctA	p.L329L		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	329	SH2.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAGCATCTGGCTCTGCTGT	0.662000														86			36		0	0	0.008740	0	0
DIP2A	23181	broad.mit.edu	37	21	47916995	47916995	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47916995G>A	uc002zjo.2	+	3	561	c.378G>A	c.(376-378)tcG>tcA	p.S126S	DIP2A_uc011afy.1_Silent_p.S62S|DIP2A_uc011afz.1_Silent_p.S126S|DIP2A_uc002zjl.3_Silent_p.S126S|DIP2A_uc002zjm.3_Silent_p.S126S|DIP2A_uc010gql.3_Silent_p.S126S|DIP2A_uc002zjn.3_Silent_p.S126S	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	126					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TTGTGCATTCGTCTGTGGAAA	0.453000														18			17		0	0	0.006122	0	0
CELSR1	9620	broad.mit.edu	37	22	46806347	46806347	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:46806347G>A	uc003bhw.1	-	6	4881	c.4881C>T	c.(4879-4881)gaC>gaT	p.D1627D	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1627	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATTTTTGCCGTCGACTGACA	0.632000														132			76		0	0	0.014410	0	0
SPTAN1	6709	broad.mit.edu	37	9	131388869	131388869	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:131388869G>A	uc004bvl.4	+	47	6606	c.6464G>A	c.(6463-6465)cGc>cAc	p.R2155H	SPTAN1_uc004bvm.4_Missense_Mutation_p.R2160H|SPTAN1_uc004bvn.4_Missense_Mutation_p.R2135H|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	2155					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAGCTGGACCGCCAGATCAAG	0.582000														62			14		0	0	0.016723	0	0
TAF4	6874	broad.mit.edu	37	20	60574065	60574065	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60574065G>A	uc002ybs.3	-	11	2887	c.2887C>T	c.(2887-2889)Cgg>Tgg	p.R963W		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	963					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGGATCTCCCGCTCCTGCTCA	0.557000														279			178		0	0	0.014410	0	0
HECW2	57520	broad.mit.edu	37	2	197183524	197183524	+	Missense_Mutation	SNP	G	A	A	rs139251909		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:197183524G>A	uc002utm.1	-	8	2273	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L	HECW2_uc002utl.1_Missense_Mutation_p.S341L	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	697					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGATTCCTGCGACCCTTCGGC	0.612000														110			6		0	0	0.001984	0	0
DSCAML1	57453	broad.mit.edu	37	11	117352692	117352692	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:117352692C>T	uc001prh.1	-	11	2727	c.2725G>A	c.(2725-2727)Gtc>Atc	p.V909I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	849	Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGTGTGGAGACGACCTCGTCG	0.627000														96			12		0	0	0.010729	0	0
C14orf37	145407	broad.mit.edu	37	14	58605364	58605364	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:58605364C>T	uc010tro.2	-	2	1025	c.827G>A	c.(826-828)gGt>gAt	p.G276D	C14orf37_uc001xdc.3_Missense_Mutation_p.G238D|C14orf37_uc001xdd.3_Missense_Mutation_p.G238D|C14orf37_uc001xde.3_Missense_Mutation_p.G238D	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	238						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGACTCAGCACCAGGAAAAGA	0.498000														32			57		0	0	0.014410	0	0
RABGGTA	5875	broad.mit.edu	37	14	24737796	24737796	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24737796G>A	uc001wof.3	-	8	1352	c.930C>T	c.(928-930)aaC>aaT	p.N310N	RABGGTA_uc001wog.3_Silent_p.N310N|HP08474_uc021rro.1_5'Flank	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	310					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCAACTGGTCGTTGAGGGAGG	0.552000														21			46		0	0	0.014410	0	0
ALPK3	57538	broad.mit.edu	37	15	85382932	85382932	+	Splice_Site	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:85382932G>A	uc002ble.3	+	5	1196	c.1029_splice	c.e5-1	p.R343_splice		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	343	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTACCTCTAGGTGTCGAGAA	0.647000														103			53		0	0	0.014410	0	0
RERE	473	broad.mit.edu	37	1	8674675	8674675	+	Missense_Mutation	SNP	G	A	A	rs142313428		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:8674675G>A	uc001ape.3	-	4	1277	c.467C>T	c.(466-468)cCg>cTg	p.P156L	RERE_uc001apf.3_Missense_Mutation_p.P156L|RERE_uc001aph.1_Missense_Mutation_p.P156L	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	156	BAH.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGATGCCACCGGCAGAGAGCA	0.488000														168			44		0	0	0.011902	0	0
CNN1	1264	broad.mit.edu	37	19	11660568	11660568	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:11660568C>T	uc002msc.1	+	6	1016	c.852C>T	c.(850-852)ccC>ccT	p.P284P	CNN1_uc010xmb.1_Silent_p.P234P|CNN1_uc010xmc.1_Silent_p.P234P	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	284					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TGGGTGAGCCCGCCCACAACC	0.632000														133			27		0	0	0.027356	0	0
CCDC88C	440193	broad.mit.edu	37	14	91806240	91806240	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:91806240G>A	uc010aty.3	-	6	766	c.612C>T	c.(610-612)gaC>gaT	p.D204D	CCDC88C_uc010twk.1_Silent_p.D168D	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	204					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CGGTGCACTCGTCCCGCTGGT	0.677000														7			3		0	0	0.004672	0	0
CDT1	81620	broad.mit.edu	37	16	88873762	88873762	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:88873762G>A	uc002flu.3	+	8	1403	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	Homo sapiens chromatin licensing and DNA replication factor 1 (CDT1), mRNA.	450					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGGCTGCAGCGCTTAGAACGG	0.657000														41			34		0	0	0.023175	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671678	31671678	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:31671678G>A	uc010zue.2	+	2	690	c.675G>A	c.(673-675)acG>acA	p.T225T		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	225	Gly-rich.					cytoplasm|extracellular region	lipid binding										AAGGCATCACGGGGTAAGGAG	0.627000														52			44		0	0	0.011902	0	0
ALMS1	7840	broad.mit.edu	37	2	73717091	73717091	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:73717091C>T	uc002sje.1	+	9	8113	c.8002C>T	c.(8002-8004)Cga>Tga	p.R2668*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.R2626*|ALMS1_uc002sjg.3_Nonsense_Mutation_p.R2056*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.R2056*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2668					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAAAGGTCTTCGAATGCCATT	0.378000														176			95		0	0	0.014410	0	0
PDCD11	22984	broad.mit.edu	37	10	105184818	105184818	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105184818G>A	uc001kwy.1	+	19	2928	c.2841G>A	c.(2839-2841)acG>acA	p.T947T		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	947					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGGTAGAGACGGGCCACCTGG	0.547000														102			25		0	0	0.006320	0	0
DNAH9	1770	broad.mit.edu	37	17	11660881	11660881	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:11660881G>A	uc002gne.3	+	34	6935	c.6867G>A	c.(6865-6867)ccG>ccA	p.P2289P	DNAH9_uc010coo.3_Silent_p.P1583P	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2289	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCAACCCGGCAGACTTGG	0.428000														62			16		0	0	0.006122	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88967854	88967854	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:88967854G>A	uc004aou.3	-	1	399	c.261C>T	c.(259-261)ccC>ccT	p.P87P	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Silent_p.P87P|ZCCHC6_uc004aot.3_Silent_p.P87P|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript|ZCCHC6_uc004aov.3_Silent_p.P87P|ZCCHC6_uc004aow.3_Silent_p.P87P|ZCCHC6_uc010mqf.2_Silent_p.P87P	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	87					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCATCCAAGCGGGTTGACTGT	0.433000														184			94		0	0	0.014410	0	0
TDRD9	122402	broad.mit.edu	37	14	104490932	104490932	+	Missense_Mutation	SNP	C	T	T	rs139118201	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:104490932C>T	uc001yom.4	+	24	2663	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	TDRD9_uc001yon.4_Missense_Mutation_p.T616M	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	878					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CAGAAGCAGACGGTAGATCCT	0.343000														26			38		0	0	0.007835	0	0
NPR3	4883	broad.mit.edu	37	5	32739001	32739001	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:32739001C>T	uc003jhv.3	+	2	1369	c.924C>T	c.(922-924)caC>caT	p.H308H	NPR3_uc010iuo.3_Silent_p.H92H|NPR3_uc003jhw.2_Silent_p.H92H|NPR3_uc003jhu.3_Silent_p.H308H	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	308					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.H308H(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGACAAACACGACTTTGAAG	0.428000														90			49		0	0	0.014410	0	0
TRIM72	493829	broad.mit.edu	37	16	31230620	31230620	+	Missense_Mutation	SNP	G	A	A	rs140684083	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31230620G>A	uc002ebn.2	+	3	781	c.497G>A	c.(496-498)cGt>cAt	p.R166H	PYDC1_uc002ebo.3_5'Flank|PYDC1_uc021tgv.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	166					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GAGACAGTGCGTCAGTTCCGG	0.647000														134			40		0	0	0.011902	0	0
HOXA1	3198	broad.mit.edu	37	7	27135248	27135248	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:27135248C>T	uc003sye.3	-	0	378	c.284G>A	c.(283-285)tGt>tAt	p.C95Y	HOXA1_uc003syd.3_Missense_Mutation_p.C95Y|HOXA1_uc022aao.1_Missense_Mutation_p.C95Y|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	95						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCTTGGACCACAACTTGAGTG	0.612000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		149			29		0	0	0.008361	0	0
PCSK7	9159	broad.mit.edu	37	11	117100140	117100140	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:117100140G>A	uc001pqr.3	-	2	622	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	141		Cleavage; by autolysis (By similarity).			peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGGACGCTGCGCTTGGCCCGC	0.617000			T	IGH@	MLCLS									170			48		0	0	0.014410	0	0
KCNN1	3780	broad.mit.edu	37	19	18092920	18092920	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:18092920G>A	uc002nht.3	+	4	1211	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	KCNN1_uc010xqa.1_Missense_Mutation_p.V301M	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	301					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						AGCCTGGACCGTGCGCGTCTG	0.652000														7			12		0	0	0.020292	0	0
PDE8B	8622	broad.mit.edu	37	5	76649192	76649192	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:76649192G>A	uc003kfa.3	+	9	1173	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	PDE8B_uc003kfd.3_Silent_p.S329S|PDE8B_uc003kfe.3_Intron|PDE8B_uc003kfb.3_Silent_p.S356S|PDE8B_uc003kfc.3_Silent_p.S376S	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	376					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ATTTTGTCTCGCTCAAGAAAC	0.368000														43			24		0	0	0.027356	0	0
INCENP	3619	broad.mit.edu	37	11	61912746	61912746	+	Silent	SNP	C	T	T	rs141016037		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:61912746C>T	uc001nsw.1	+	12	2023	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D	INCENP_uc009ynw.1_Silent_p.D607D|INCENP_uc001nsx.1_Silent_p.D603D	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	607					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTCAGATCGACGAGAAGACTG	0.577000														131			9		0	0	0.008291	0	0
ABCF1	23	broad.mit.edu	37	6	30552327	30552327	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:30552327C>T	uc003nql.3	+	13	1470	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	ABCF1_uc003nqk.2_Missense_Mutation_p.R460C|ABCF1_uc003nqm.3_Missense_Mutation_p.R421C	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	459	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTGGCGCATGCGTGTCTCCCT	0.612000														34			38		0	0	0.007835	0	0
EHMT1	79813	broad.mit.edu	37	9	140706066	140706066	+	Splice_Site	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:140706066G>A	uc011mfc.2	+	19	2904	c.2867_splice	c.e19+1	p.V956_splice		NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	956					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGACTGTGTCGTGTGAGTGCA	0.642000														50			41		0	0	0.027894	0	0
POLE	5426	broad.mit.edu	37	12	133250239	133250239	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133250239G>A	uc001uks.1	-	12	1325	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.A400A	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	427					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGCCTTGGCGGCCGCCTTGA	0.582000								DNA polymerases (catalytic subunits)						209			124		0	0	0.014410	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62857963	62857963	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:62857963C>T	uc004dvl.2	-	9	2335	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	ARHGEF9_uc011mos.1_Missense_Mutation_p.R478H|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R317H|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R478H|ARHGEF9_uc004dvj.2_Missense_Mutation_p.R397H|ARHGEF9_uc011mot.2_Missense_Mutation_p.R446H	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	499					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	p.R497H(2)|p.R499H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TGACTGGCTGCGCTTGGGTTC	0.493000														14			7		0	0	0.003080	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105967614	105967614	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:105967614C>T	uc001pjc.1	+	5	1056	c.910C>T	c.(910-912)Cga>Tga	p.R304*	AASDHPPT_uc010rvn.1_Non-coding_Transcript|AASDHPPT_uc001pjd.1_Nonsense_Mutation_p.R157*|AASDHPPT_uc021qqa.1_5'Flank	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (AASDHPPT), mRNA.	304					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AATTCCAATACGAAATGGTAC	0.348000														29			9		0	0	0.006214	0	0
BMP1	649	broad.mit.edu	37	8	22037987	22037987	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:22037987C>T	uc003xbg.3	+	7	1334	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	BMP1_uc003xbf.3_Silent_p.P105P|BMP1_uc003xbb.3_Silent_p.P356P|BMP1_uc003xbc.3_Silent_p.P105P|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Silent_p.P105P|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	356	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTCACACCCGGGGAGAAGG	0.612000														83			51		0	0	0.014410	0	0
MSLN	10232	broad.mit.edu	37	16	814961	814961	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:814961G>A	uc002cjw.2	+	6	546	c.435G>A	c.(433-435)acG>acA	p.T145T	MSLN_uc002cju.1_Silent_p.T145T|MSLN_uc002cjt.1_Silent_p.T145T|MSLN_uc010brd.1_Silent_p.T144T|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	145					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCCGCATCACGAAGGCCAATG	0.701000														34			11		0	0	0.013537	0	0
PIGB	9488	broad.mit.edu	37	15	55647590	55647590	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:55647590G>A	uc002act.3	+	11	1941	c.1625G>A	c.(1624-1626)cGg>cAg	p.R542Q	CCPG1_uc002acy.3_3'UTR|PIGB_uc010ugg.2_Missense_Mutation_p.R347Q|CCPG1_uc002acu.2_3'UTR|CCPG1_uc002acz.2_3'UTR|CCPG1_uc002acw.2_3'UTR|CCPG1_uc002acx.3_3'UTR|CCPG1_uc010bfk.2_3'UTR|CCPG1_uc002acv.2_3'UTR	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	542					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		GTCTATGAACGGAAGTTAAAA	0.358000														98			11		0	0	0.010729	0	0
SMARCC2	6601	broad.mit.edu	37	12	56568511	56568511	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56568511G>A	uc001skb.3	-	15	1526	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	SMARCC2_uc001skd.3_Nonsense_Mutation_p.R474*|SMARCC2_uc001ska.3_Nonsense_Mutation_p.R474*|SMARCC2_uc001skc.3_Nonsense_Mutation_p.R474*|SMARCC2_uc010sqf.2_Nonsense_Mutation_p.R363*	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)			GGGTTCAGTCGGTAAGTGTCA	0.468000														166			30		0	0	0.010818	0	0
CDH5	1003	broad.mit.edu	37	16	66424460	66424460	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:66424460C>T	uc002eom.4	+	5	1092	c.936C>T	c.(934-936)ccC>ccT	p.P312P	CDH5_uc002eon.1_Silent_p.P312P	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	312	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGACAAACCCCGCCCACAACG	0.557000														47			53		0	0	0.014410	0	0
POLD1	5424	broad.mit.edu	37	19	50912844	50912844	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50912844C>T	uc010eny.3	+	15	2154	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	POLD1_uc002psb.4_Missense_Mutation_p.A692V|POLD1_uc002psc.4_Missense_Mutation_p.A692V|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	692					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGGCAGCTGGCGCTGAAGGTG	0.672000								DNA polymerases (catalytic subunits)						194			10		0	0	0.006214	0	0
KDM2A	22992	broad.mit.edu	37	11	67012792	67012792	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67012792C>T	uc001ojw.3	+	13	2560	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.R260W|KDM2A_uc010rpn.2_Missense_Mutation_p.R127W|KDM2A_uc001ojz.1_Missense_Mutation_p.R24W	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGGAGCCAGACGGAGACGAGT	0.552000														86			38		0	0	0.019004	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41620136	41620136	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:41620136G>A	uc003azo.3	+	8	1109	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	L3MBTL2_uc010gyi.1_Missense_Mutation_p.R261H|L3MBTL2_uc003azn.3_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	352					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCGGGGGTCGCCTACGGCTC	0.607000														88			45		0	0	0.014410	0	0
PAPLN	89932	broad.mit.edu	37	14	73726060	73726060	+	Missense_Mutation	SNP	G	A	A	rs151048072		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:73726060G>A	uc010ttx.2	+	14	1955	c.1792G>A	c.(1792-1794)Gac>Aac	p.D598N	PAPLN_uc001xnw.4_Missense_Mutation_p.D571N|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.D598N|PAPLN_uc010arm.3_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	598						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCCCAGGGGCGACCAAGGCAC	0.672000														28			57		0	0	0.014410	0	0
DNMT3A	1788	broad.mit.edu	37	2	25464537	25464537	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:25464537C>T	uc002rgc.3	-	16	2233	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H	DNMT3A_uc002rgd.3_Missense_Mutation_p.R659H|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.R470H	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	659					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R659H(2)|p.R470H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAATGTAGCGGTCCACCTG	0.627000			"""Mis, F, N, S"""		AML									28			31		0	0	0.009535	0	0
PI4KA	5297	broad.mit.edu	37	22	21082106	21082106	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:21082106G>A	uc002zsz.4	-	39	4816	c.4555C>T	c.(4555-4557)Cgg>Tgg	p.R1519W	PI4KA_uc002zsy.4_Missense_Mutation_p.R329W	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1519					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGGTCCAACCGAACGAGACGG	0.547000														77			46		0	0	0.014410	0	0
C12orf12	196477	broad.mit.edu	37	12	91348005	91348005	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:91348005G>A	uc001tbj.3	-	0	949	c.515C>T	c.(514-516)cCg>cTg	p.P172L		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	172										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						CAGCTTGACCGGCCGCGGCAG	0.667000														79			37		0	0	0.014410	0	0
MYH8	4626	broad.mit.edu	37	17	10299869	10299869	+	Splice_Site	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:10299869C>T	uc002gmm.2	-	32	4623	c.4528_splice	c.e32+1	p.Q1510_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1510					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGAGGACTCACGTTGCAAGTT	0.463000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					14			33		0	0	0.013726	0	0
FRMD1	79981	broad.mit.edu	37	6	168463623	168463623	+	Missense_Mutation	SNP	C	T	T	rs115999698	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:168463623C>T	uc003qwo.4	-	6	886	c.821G>A	c.(820-822)cGt>cAt	p.R274H	FRMD1_uc003qwm.4_Missense_Mutation_p.R45H|FRMD1_uc011egs.2_Missense_Mutation_p.R45H|FRMD1_uc011egt.2_Missense_Mutation_p.R186H|FRMD1_uc003qwn.4_Missense_Mutation_p.R206H	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	274	FERM.		R -> C (in dbSNP:rs902393).			cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CACGGTGGGACGACCTTCCTT	0.622000														58			29		0	0	0.009535	0	0
PITPNM2	57605	broad.mit.edu	37	12	123479976	123479976	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:123479976C>T	uc001uej.1	-	12	2213	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	PITPNM2_uc001uek.1_Missense_Mutation_p.E672K	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	672					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTATCCAGCTCGTAGGTGGAT	0.647000														124			27		0	0	0.024334	0	0
SLC38A10	124565	broad.mit.edu	37	17	79256073	79256073	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:79256073C>T	uc002jzz.1	-	4	792	c.417G>A	c.(415-417)ccG>ccA	p.P139P	SLC38A10_uc002jzy.1_Silent_p.P57P|SLC38A10_uc002kab.3_Silent_p.P139P	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	139					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCAGGCTGAGCGGGAGCACGA	0.662000														58			10		0	0	0.008291	0	0
MSX1	4487	broad.mit.edu	37	4	4864532	4864532	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:4864532C>T	uc003gif.3	+	1	809	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C		NM_002448	NP_002439	P28360	MSX1_HUMAN	Homo sapiens msh homeobox 1 (MSX1), mRNA.	186					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCGCAAGTTCCGCCAGAAGCA	0.657000														168			11		0	0	0.008291	0	0
ICMT	23463	broad.mit.edu	37	1	6285295	6285295	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6285295C>T	uc001amk.3	-	4	773	c.700G>A	c.(700-702)Gtc>Atc	p.V234I	ICMT_uc001aml.3_Missense_Mutation_p.V138I	NM_012405	NP_036537	O60725	ICMT_HUMAN	Homo sapiens isoprenylcysteine carboxyl methyltransferase (ICMT), mRNA.	234					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCATAGCTGACGCCGCAGATG	0.517000														84			44		0	0	0.013114	0	0
ALG14	199857	broad.mit.edu	37	1	95492780	95492780	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:95492780G>A	uc001dra.2	-	2	378	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W		NM_144988	NP_659425	Q96F25	ALG14_HUMAN	Homo sapiens asparagine-linked glycosylation 14 homolog (S. cerevisiae) (ALG14), mRNA.	109					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	p.R109L(1)		endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TGAACCTCCCGGCTTCTTGGA	0.453000														57			31		0	0	0.012213	0	0
PPIL2	23759	broad.mit.edu	37	22	22048118	22048118	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:22048118C>T	uc010gtj.1	+	15	1269	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	PPIL2_uc002zvh.4_Missense_Mutation_p.R385C|PPIL2_uc002zvi.4_Missense_Mutation_p.R385C|PPIL2_uc002zvg.4_Missense_Mutation_p.R385C|PPIL2_uc011aij.2_Missense_Mutation_p.R364C|PPIL2_uc002zvk.4_Missense_Mutation_p.R131C	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	385	PPIase cyclophilin-type.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CATCACGTTTCGCTCCTGTGC	0.602000														152			116		0	0	0.014410	0	0
FMNL1	752	broad.mit.edu	37	17	43314943	43314943	+	Silent	SNP	G	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:43314943G>T	uc002iin.3	+	8	1031	c.831G>T	c.(829-831)gcG>gcT	p.A277A		NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	277	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGCTGCTGGCGGCCGTGTGCT	0.607000														80			181		1.90661e-81	1.96179e-81	0.014410	1	0
DUS3L	56931	broad.mit.edu	37	19	5786850	5786850	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:5786850C>T	uc002mdc.3	-	8	1493	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.3_Missense_Mutation_p.G224S	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	466					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CGAGAGCGGCCGTGGAGCTGG	0.642000														20			11		0	0	0.010729	0	0
PPP6R2	9701	broad.mit.edu	37	22	50882544	50882544	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:50882544C>T	uc003blb.2	+	23	3272	c.2850C>T	c.(2848-2850)gaC>gaT	p.D950D	PPP6R2_uc003blc.3_Silent_p.D943D|PPP6R2_uc003bky.2_Silent_p.D917D|PPP6R2_uc003bla.2_Silent_p.D917D|PPP6R2_uc003bkz.2_Silent_p.D916D|PPP6R2_uc003bld.2_Silent_p.D476D	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	950						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGACAAAGGACGGGTGAGCAG	0.667000														98			44		0	0	0.013114	0	0
UACA	55075	broad.mit.edu	37	15	70991907	70991907	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:70991907C>T	uc002asr.3	-	1	275	c.171G>A	c.(169-171)aaG>aaA	p.K57K	UACA_uc010uke.2_Silent_p.K57K|UACA_uc002asq.3_Silent_p.K44K|UACA_uc010bin.1_Silent_p.K43K	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	57						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GATTGACCCCCTTTTTAGCAA	0.403000														90			65		0	0	0.014410	0	0
PTPRC	5788	broad.mit.edu	37	1	198671623	198671623	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:198671623C>T	uc001gur.1	+	5	721	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc021pgy.1_Intron|PTPRC_uc010ppg.1_Missense_Mutation_p.R117C|PTPRC_uc001guu.1_Missense_Mutation_p.R224C|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Intron	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	181					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTTACCTGCACGCACCTCCAA	0.498000														247			125		0	0	0.014410	0	0
OBSCN	84033	broad.mit.edu	37	1	228471282	228471282	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:228471282C>T	uc009xez.1	+	32	8860	c.8816C>T	c.(8815-8817)aCg>aTg	p.T2939M	OBSCN_uc001hsn.3_Missense_Mutation_p.T2939M|OBSCN_uc001hsp.1_Missense_Mutation_p.T638M|OBSCN_uc001hsq.1_Missense_Mutation_p.T195M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2939	Ig-like 29.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGTGCAAGACGGAGCACCCC	0.632000														53			30		0	0	0.008361	0	0
CYP2C19	1557	broad.mit.edu	37	10	96480238	96480238	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:96480238C>T	uc001kjv.4	+	5	1231	c.905C>T	c.(904-906)aCg>aTg	p.T302M	CYP2C19_uc001kjw.4_Missense_Mutation_p.T243M|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	302					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ACAGAGACAACGAGCACCACT	0.423000														78			19		0	0	0.008871	0	0
OR5C1	392391	broad.mit.edu	37	9	125551233	125551233	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:125551233C>T	uc011lzd.2	+	0	22	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GAACCTCACCCGGGCCGCGGT	0.582000														139			30		0	0	0.010818	0	0
RAB26	25837	broad.mit.edu	37	16	2202854	2202854	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2202854C>T	uc002cou.3	+	5	636	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	RAB26_uc010bsf.3_Missense_Mutation_p.H102Y|TRAF7_uc002cow.3_5'Flank	NM_014353	NP_055168	Q9ULW5	RAB26_HUMAN	Homo sapiens RAB26, member RAS oncogene family (RAB26), mRNA.	168					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						GTACGCCCAGCACGACGTGGC	0.687000														47			17		0	0	0.004990	0	0
RNF10	9921	broad.mit.edu	37	12	121000755	121000755	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:121000755A>G	uc001typ.4	+	7	1619	c.1136A>G	c.(1135-1137)gAa>gGa	p.E379G	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.E285G	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	379					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGACTCGGGAAGAGGCTCTG	0.547000														66			31		0	0	0.021022	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319341	21319341	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:21319341C>T	uc021tss.1	+	2	1057	c.687C>T	c.(685-687)cgC>cgT	p.R229R	KCNJ18_uc002gyv.1_Silent_p.R229R|KCNJ18_uc021tst.1_Silent_p.R229R	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	229						integral to membrane	inward rectifier potassium channel activity	p.R229R(2)									CCCATGTGCGCGCGCAGCTCA	0.642000														65			28		0	0	0.009535	0	0
CIT	11113	broad.mit.edu	37	12	120128190	120128190	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:120128190C>T	uc001txj.2	-	46	6008	c.5952G>A	c.(5950-5952)gcG>gcA	p.A1984A	CIT_uc001txh.2_Silent_p.A1460A|CIT_uc001txi.2_Silent_p.A1942A	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1942					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTTCGGGCGGCGCTGGGCTGG	0.706000														22			13		0	0	0.016723	0	0
EPB41L3	23136	broad.mit.edu	37	18	5423406	5423406	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:5423406C>T	uc002kmt.1	-	10	1396	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	EPB41L3_uc010wzh.1_Missense_Mutation_p.R437H|EPB41L3_uc002kmu.1_Missense_Mutation_p.R437H|EPB41L3_uc010dkq.1_Missense_Mutation_p.R328H|EPB41L3_uc010dkr.2_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	437	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CATGGTATAACGTTTGCTGGA	0.478000														26			32		0	0	0.021022	0	0
SHROOM3	57619	broad.mit.edu	37	4	77662039	77662039	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:77662039C>T	uc011cbx.2	+	4	3666	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W	SHROOM3_uc011cbz.1_Missense_Mutation_p.R729W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R780W|SHROOM3_uc003hkg.3_Missense_Mutation_p.R683W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	905					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCCGAGTGGCGGGACAGGCC	0.711000														19			11		0	0	0.010729	0	0
TPSAB1	7177	broad.mit.edu	37	16	1292148	1292148	+	Silent	SNP	C	T	T	rs147278526	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1292148C>T	uc002ckz.3	+	5	787	c.735C>T	c.(733-735)ggC>ggT	p.G245G	TPSAB1_uc010uux.2_Silent_p.G181G	NM_003294	NP_003285	P20231	TRYB2_HUMAN	Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.	245	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TCAGCTGGGGCGAGGGCTGTG	0.657000														36			11		0	0	0.024245	0	0
ANK1	286	broad.mit.edu	37	8	41554024	41554024	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:41554024C>T	uc003xok.3	-	25	2901	c.2817G>A	c.(2815-2817)ccG>ccA	p.P939P	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.P255P|ANK1_uc003xoi.3_Silent_p.P939P|ANK1_uc003xoj.3_Silent_p.P939P|ANK1_uc003xol.3_Silent_p.P939P|ANK1_uc003xom.3_Silent_p.P980P	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	939	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACGTCCGTGGCGGGATCACCA	0.677000														45			25		0	0	0.021523	0	0
HSPG2	3339	broad.mit.edu	37	1	22166340	22166340	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:22166340C>T	uc009vqd.3	-	71	9727	c.9687G>A	c.(9685-9687)acG>acA	p.T3229T	HSPG2_uc001bfj.3_Silent_p.T3228T	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3228	Ig-like C2-type 18.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCAAGGTGGCCGTGTGTCCAG	0.627000														102			84		0	0	0.014410	0	0
C6	729	broad.mit.edu	37	5	41159281	41159281	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:41159281G>A	uc003jmk.2	-	11	1969	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	C6_uc003jml.1_Nonsense_Mutation_p.R587*	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	587	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGCATTCTCGGGTTCTCGAT	0.493000														80			58		0	0	0.014410	0	0
PAPPA	5069	broad.mit.edu	37	9	119097282	119097282	+	Silent	SNP	C	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:119097282C>A	uc004bjn.3	+	12	3921	c.3540C>A	c.(3538-3540)tcC>tcA	p.S1180S	PAPPA_uc011lxp.1_Silent_p.S875S|PAPPA_uc011lxq.2_Silent_p.S555S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1180					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCTCCGTTCCTTCGACAACT	0.642000														119			62		4.46356e-37	4.58536e-37	0.014410	1	0
EPAS1	2034	broad.mit.edu	37	2	46574124	46574124	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:46574124G>A	uc002ruv.3	+	1	649	c.139G>A	c.(139-141)Gtg>Atg	p.V47M		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	47	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.S46S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCCCCACAGTGTGAGCTCCCA	0.617000														214			13		0	0	0.024245	0	0
LOC645752	645752	broad.mit.edu	37	15	78207601	78207601	+	Silent	SNP	G	A	A	rs28451071	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:78207601G>A	uc010bky.2	-	17	2075	c.1311C>T	c.(1309-1311)gcC>gcT	p.A437A	LOC645752_uc010umq.1_Silent_p.A84A|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank					Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		AACCCTCCCTGGCCGCTCCTG	0.592000														50			6		0	0	0.021553	0	0
PSG8	440533	broad.mit.edu	37	19	43259265	43259265	+	Missense_Mutation	SNP	C	T	T	rs113087470		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:43259265C>T	uc002ouo.2	-	3	961	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.R288Q|PSG8_uc010ein.3_Missense_Mutation_p.R166Q|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	288	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCAATGGGTCGCTTTACCCT	0.468000														213			63		0	0	0.014410	0	0
PRDM15	63977	broad.mit.edu	37	21	43230535	43230535	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:43230535C>T	uc002yzq.1	-	27	3836	c.3725G>A	c.(3724-3726)cGa>cAa	p.R1242Q	PRDM15_uc002yzo.3_Missense_Mutation_p.R913Q|PRDM15_uc002yzp.3_Missense_Mutation_p.R933Q|PRDM15_uc002yzr.1_Missense_Mutation_p.R933Q	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCGCATGTGTCGGCTCATGGA	0.682000														27			29		0	0	0.013726	0	0
MARK1	4139	broad.mit.edu	37	1	220791991	220791991	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:220791991G>A	uc009xdw.3	+	8	1400	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	MARK1_uc001hmn.4_Missense_Mutation_p.R268Q|MARK1_uc010pun.2_Missense_Mutation_p.R268Q|MARK1_uc001hmm.4_Missense_Mutation_p.R246Q	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	268	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CTGCGAGAGCGAGTTTTACGA	0.353000														72			31		0	0	0.013726	0	0
ZNF516	9658	broad.mit.edu	37	18	74153957	74153957	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:74153957C>T	uc021ulp.1	-	2	1372	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCATTGTGGGCGTTCAAGCTG	0.657000														13			22		0	0	0.014323	0	0
CELSR2	1952	broad.mit.edu	37	1	109801232	109801232	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:109801232C>T	uc001dxa.4	+	1	3550	c.3489C>T	c.(3487-3489)caC>caT	p.H1163H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1163					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CACCGGACCACGTGGTGGTCT	0.716000														13			7		0	0	0.001984	0	0
TUBB4B	10383	broad.mit.edu	37	9	140137526	140137526	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:140137526G>A	uc004cmh.1	+	3	958	c.856G>A	c.(856-858)Gtg>Atg	p.V286M	TUBB4B_uc004cmg.1_Missense_Mutation_p.V140M	NM_006088	NP_006079	P68371	TBB2C_HUMAN	Homo sapiens tubulin, beta 4B class IVb (TUBB4B), mRNA.	286					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|cellular component movement|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										GGCGCTGACCGTGCCCGAGCT	0.657000														113			31		0	0	0.008361	0	0
FKBP6	8468	broad.mit.edu	37	7	72754699	72754699	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:72754699C>T	uc003tya.2	+	5	780	c.648C>T	c.(646-648)gcC>gcT	p.A216A	FKBP6_uc003twz.2_Silent_p.A186A|FKBP6_uc011kew.1_Silent_p.A211A|FKBP6_uc010lbe.1_Non-coding_Transcript	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	216					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGGTGGAGGCCGCCAAGCTTC	0.572000														112			24		0	0	0.021523	0	0
SUSD2	56241	broad.mit.edu	37	22	24581087	24581087	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:24581087G>A	uc002zzn.1	+	5	852	c.808G>A	c.(808-810)Gac>Aac	p.D270N		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	270					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTGGACCAACGACCACGCACT	0.672000														52			28		0	0	0.006320	0	0
EPB49	2039	broad.mit.edu	37	8	21926949	21926949	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:21926949C>T	uc022asw.1	+	4	352	c.314C>T	c.(313-315)tCg>tTg	p.S105L	EPB49_uc022asq.1_Missense_Mutation_p.S105L|EPB49_uc011kys.1_Missense_Mutation_p.S65L|EPB49_uc022asr.1_Missense_Mutation_p.S105L|EPB49_uc022ass.1_Missense_Mutation_p.S80L|EPB49_uc022ast.1_Missense_Mutation_p.S105L|EPB49_uc022asu.1_Missense_Mutation_p.S105L|EPB49_uc022asv.1_Missense_Mutation_p.S105L|EPB49_uc022asx.1_Missense_Mutation_p.S105L|EPB49_uc022asy.1_Missense_Mutation_p.S80L	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	105					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		GACAGCCGGTCGCCTGGAATC	0.657000														38			17		0	0	0.004990	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951531	46951531	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:46951531C>T	uc002zhl.2	-	2	874	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	SLC19A1_uc010gpy.1_Missense_Mutation_p.A241T|SLC19A1_uc011aft.2_Missense_Mutation_p.A201T|SLC19A1_uc002zhm.2_Missense_Mutation_p.A241T|SLC19A1_uc010gpz.2_Missense_Mutation_p.A120T	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	241					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		ACCCGCAGGGCGTGTCCCAGC	0.716000														60			69		0	0	0.014410	0	0
ICOSLG	23308	broad.mit.edu	37	21	45651221	45651221	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:45651221G>A	uc010gpp.1	-	4	938	c.804C>T	c.(802-804)gtC>gtT	p.V268V	ICOSLG_uc002zef.3_Silent_p.V151V|ICOSLG_uc002zee.3_Silent_p.V268V|ICOSLG_uc011afc.2_Silent_p.V178V	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	268					B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CCACCGCCACGACCACAAGCA	0.567000														72			52		0	0	0.014410	0	0
PRCP	5547	broad.mit.edu	37	11	82550376	82550376	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:82550376G>A	uc001ozs.3	-	6	1126	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	PRCP_uc001ozr.3_Missense_Mutation_p.S359L	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	338					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CACCTGGCCCGAATAATTGTA	0.403000														103			27		0	0	0.024334	0	0
ABAT	18	broad.mit.edu	37	16	8858658	8858658	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:8858658G>A	uc002czc.4	+	7	677	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	ABAT_uc002czd.4_Missense_Mutation_p.A171T|ABAT_uc010buh.3_Missense_Mutation_p.A113T|ABAT_uc010bui.3_Missense_Mutation_p.A171T	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	171				MSQLITMACGSCSNENA -> CPSSSPWPACPAPMKTT (in Ref. 2; AAB38510).	behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	p.A171T(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CAATGAAAACGCCTTAAAGAC	0.592000														97			25		0	0	0.024334	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967425	58967425	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58967425G>A	uc002qsv.1	+	3	1221	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T	ZNF324B_uc002qsu.1_Missense_Mutation_p.A362T|ZNF324B_uc010euq.1_Missense_Mutation_p.A372T	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTATGCTTGCGCACAGTGTGG	0.657000														54			4		0	0	0.009096	0	0
MLL2	8085	broad.mit.edu	37	19	36216664	36216664	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:36216664C>T	uc021usv.1	+	12	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L	MLL2_uc021usu.1_Missense_Mutation_p.P91L	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1454					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCATACCACCCGGCCTGTCTG	0.602000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				12			4		0	0	0.014758	0	0
TDRD6	221400	broad.mit.edu	37	6	46656282	46656282	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:46656282C>T	uc003oyj.3	+	0	671	c.417C>T	c.(415-417)tgC>tgT	p.C139C	TDRD6_uc010jze.3_Silent_p.C139C	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	139					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)			CGGCAGGCTGCGGCGCGGGCT	0.711000														19			4		0	0	0.009096	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580456	15580456	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15580456G>A	uc002nbg.3	-	3	1761	c.1628C>T	c.(1627-1629)cCg>cTg	p.P543L	PGLYRP2_uc002nbf.4_Missense_Mutation_p.P543L	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	543					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTGAAGTGCGGCCAGGTGCG	0.721000														13			12		0	0	0.016723	0	0
EPN3	55040	broad.mit.edu	37	17	48616601	48616601	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:48616601C>T	uc010wms.2	+	4	1088	c.900C>T	c.(898-900)gcC>gcT	p.A300A	EPN3_uc002ira.4_Silent_p.A272A|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Silent_p.A245A			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	272						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GTGCAGGGGCCGTGGTCCACC	0.607000														24			73		0	0	0.014410	0	0
EIF3A	8661	broad.mit.edu	37	10	120796752	120796752	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:120796752G>A	uc001ldu.3	-	20	3944	c.3798C>T	c.(3796-3798)gaC>gaT	p.D1266D	EIF3A_uc010qsu.2_Silent_p.D1232D	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1266	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TATCCCTATCGTCCCGGCGAC	0.547000														136			36		0	0	0.015359	0	0
VMP1	81671	broad.mit.edu	37	17	57842391	57842391	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:57842391C>T	uc002ixu.4	+	5	747	c.474C>T	c.(472-474)ccC>ccT	p.P158P	VMP1_uc010wog.2_5'UTR|VMP1_uc010woh.2_Intron|VMP1_uc010woi.2_Silent_p.P61P|VMP1_uc010woj.2_Silent_p.P24P	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	Homo sapiens vacuole membrane protein 1 (VMP1), mRNA.	158					autophagy|cell adhesion	ER-Golgi intermediate compartment membrane|endoplasmic reticulum|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TTAATTTTCCCGAACCACCCT	0.368000														83			20		0	0	0.010504	0	0
RASGRP2	10235	broad.mit.edu	37	11	64506852	64506852	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64506852C>T	uc009ypu.3	-	7	1020	c.793G>A	c.(793-795)Gtt>Att	p.V265I	RASGRP2_uc001oat.3_Missense_Mutation_p.V167I|RASGRP2_uc001oau.3_Missense_Mutation_p.V120I|RASGRP2_uc009ypv.3_Missense_Mutation_p.V265I|RASGRP2_uc009ypw.3_Missense_Mutation_p.V265I	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	265	Ras-GEF.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAGGGCTAACGTGGCTGTGG	0.642000														66			11		0	0	0.013537	0	0
NPHP3	27031	broad.mit.edu	37	3	132361582	132361582	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:132361582A>G	uc003eov.4	-	2	694	c.314T>C	c.(313-315)aTa>aCa	p.I105T		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	525					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCAGTACAGTATAGGCTTGGG	0.328000														31			107		0	0	0.014410	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921520	130921520	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:130921520G>A	uc001uil.2	-	9	2138	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	RIMBP2_uc001uim.3_Missense_Mutation_p.P549L	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	641	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCCACGGGCGGCTCCAGCAT	0.711000														16			16		0	0	0.006122	0	0
KIF13B	23303	broad.mit.edu	37	8	28989840	28989840	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:28989840C>T	uc003xhh.4	-	22	2986	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	976					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCGAAGACTACGTGTCTTTGC	0.388000														70			30		0	0	0.015359	0	0
LRP2	4036	broad.mit.edu	37	2	170022532	170022532	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170022532G>A	uc002ues.3	-	61	11881	c.11668C>T	c.(11668-11670)Cgg>Tgg	p.R3890W		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3890	LDL-receptor class A 35.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R3890L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTGTCACACCGGAAACGGTTT	0.388000														104			88		0	0	0.014410	0	0
STK25	10494	broad.mit.edu	37	2	242437037	242437037	+	Silent	SNP	G	A	A	rs67879108		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242437037G>A	uc002wbm.3	-	8	1369	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	STK25_uc002wbl.3_3'UTR|STK25_uc002wbn.3_Silent_p.F366F|STK25_uc002wbo.3_Silent_p.F289F|STK25_uc010zos.2_Silent_p.F272F|STK25_uc010zot.2_Silent_p.F292F|STK25_uc002wbp.3_Silent_p.F366F|STK25_uc010fzo.3_Silent_p.F289F|STK25_uc010zou.2_Silent_p.F272F|STK25_uc010zov.2_Silent_p.F272F	NM_006374	NP_006365	O00506	STK25_HUMAN	Homo sapiens serine/threonine kinase 25 (STK25), mRNA.	366					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TCACCTCTCCGAAGACGGGCC	0.657000														103			101		0	0	0.014410	0	0
PHC2	1912	broad.mit.edu	37	1	33837953	33837953	+	Silent	SNP	G	A	A	rs145356735		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:33837953G>A	uc009vuh.1	-	2	759	c.270C>T	c.(268-270)acC>acT	p.T90T	PHC2_uc001bxg.1_Silent_p.T90T|PHC2_uc001bxh.1_Silent_p.T90T|PHC2_uc001bxi.1_Silent_p.T90T	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	90	Gln-rich.				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAGCGCCGCGGTCTGCAGCA	0.667000														58			41		0	0	0.008740	0	0
EXTL1	2134	broad.mit.edu	37	1	26349416	26349416	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26349416C>T	uc001blf.3	+	0	1146	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	93					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCAGGGGCGATGGCCTTA	0.542000														128			26		0	0	0.006320	0	0
WTAP	9589	broad.mit.edu	37	6	160176453	160176453	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:160176453C>T	uc003qsl.3	+	7	1223	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	WTAP_uc003qso.3_Missense_Mutation_p.A215V	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Homo sapiens Wilms tumor 1 associated protein (WTAP), transcript variant 1, mRNA.	334					RNA splicing|cell cycle|mRNA processing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CAACTCAGTGCGGGGTATGAA	0.483000														64			33		0	0	0.017118	0	0
FAM113A	64773	broad.mit.edu	37	20	2820527	2820527	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:2820527C>T	uc002wgz.1	-	1	529	c.32G>A	c.(31-33)cGc>cAc	p.R11H	FAM113A_uc010zqa.1_5'UTR|FAM113A_uc002whc.1_Missense_Mutation_p.R11H|VPS16_uc002whe.3_5'Flank|VPS16_uc002whf.3_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.	11							hydrolase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						CAGCGGGCGGCGCGGCTCCTC	0.637000														42			35		0	0	0.013726	0	0
CDC16	8881	broad.mit.edu	37	13	115016143	115016143	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr13:115016143T>C	uc001vuk.1	+	11	1289	c.1091T>C	c.(1090-1092)aTg>aCg	p.M364T	CDC16_uc001vul.1_Missense_Mutation_p.M364T|CDC16_uc001vum.1_Missense_Mutation_p.M270T|CDC16_uc001vun.1_Missense_Mutation_p.M363T|CDC16_uc001vuo.1_Missense_Mutation_p.M363T	NM_003903	NP_003894	Q13042	CDC16_HUMAN	Homo sapiens cell division cycle 16 homolog (S. cerevisiae) (CDC16), transcript variant 1, mRNA.	364					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GCACAGCTGATGAAAGGGTAC	0.428000														17			53		0	0	0.014410	0	0
DNTT	1791	broad.mit.edu	37	10	98064310	98064310	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:98064310C>T	uc001kmf.3	+	0	226	c.56C>T	c.(55-57)aCg>aTg	p.T19M	DNTT_uc001kmg.3_Missense_Mutation_p.T19M	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	19					DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.T19M(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CCCCGGCAGACGGGTGCCTTG	0.567000														84			21		0	0	0.012319	0	0
FLG	2312	broad.mit.edu	37	1	152282395	152282395	+	Missense_Mutation	SNP	C	T	T	rs139975241		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:152282395C>T	uc001ezu.1	-	2	5003	c.4967G>A	c.(4966-4968)cGt>cAt	p.R1656H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1656	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGCATGACGAGTGCCTGA	0.567000									Ichthyosis					448			236		0	0	0.014410	0	0
ERBB2	2064	broad.mit.edu	37	17	37866098	37866098	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:37866098C>T	uc002hso.3	+	4	845	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	ERBB2_uc010cwa.3_Missense_Mutation_p.R188C|ERBB2_uc002hsm.3_Missense_Mutation_p.R173C|ERBB2_uc002hsp.3_Missense_Mutation_p.R6C|ERBB2_uc010cwb.3_Missense_Mutation_p.R203C|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Missense_Mutation_p.R173C|ERBB2_uc002hsn.1_Missense_Mutation_p.R203C	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	203					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TAAGGGCTCCCGCTGCTGGGG	0.597000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				18			74		0	0	0.014410	0	0
MLL2	8085	broad.mit.edu	37	12	49445921	49445921	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49445921C>T	uc001rta.4	-	9	1545	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	515	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCGACTCCTCCAGTGGAGAAA	0.617000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				67			38		0	0	0.019004	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802792	159802792	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:159802792G>A	uc001fue.4	+	2	704	c.494G>A	c.(493-495)cGa>cAa	p.R165Q		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	165	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TATAGCTGGCGACGGGAGACA	0.542000														143			26		0	0	0.021523	0	0
MARCH9	92979	broad.mit.edu	37	12	58152527	58152527	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:58152527G>A	uc001spx.2	+	3	1319	c.888G>A	c.(886-888)acG>acA	p.T296T	MARCH9_uc001spy.3_Silent_p.T183T	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	296						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTGGGGCCACGAGCCGCCCCC	0.652000														26			10		0	0	0.020292	0	0
TSPAN15	23555	broad.mit.edu	37	10	71258152	71258152	+	Splice_Site	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:71258152G>A	uc001jpo.1	+	5	695	c.570_splice	c.e5+1	p.T190_splice		NM_012339	NP_036471	O95858	TSN15_HUMAN	Homo sapiens tetraspanin 15 (TSPAN15), mRNA.	190						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						TCAGGAACACGGTAGACACTG	0.587000														43			29		0	0	0.007291	0	0
LRRK1	79705	broad.mit.edu	37	15	101567987	101567987	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:101567987G>A	uc002bwr.3	+	18	2990	c.2671G>A	c.(2671-2673)Gag>Aag	p.E891K	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	891					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAAGGACTACGAGGACCTGCA	0.617000														10			5		0	0	0.014758	0	0
ABHD16B	140701	broad.mit.edu	37	20	62493215	62493215	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62493215C>T	uc002ygx.1	+	0	650	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	Homo sapiens abhydrolase domain containing 16B (ABHD16B), mRNA.	108							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						CTCGCTGGGCCGCTGGCTCGT	0.741000														10			12		0	0	0.016723	0	0
FLNC	2318	broad.mit.edu	37	7	128483620	128483620	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:128483620G>A	uc003vnz.4	+	17	3009	c.2800G>A	c.(2800-2802)Gct>Act	p.A934T	FLNC_uc003voa.4_Missense_Mutation_p.A934T	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	934					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGTACACCGCTGTCCAGCA	0.612000														79			43		0	0	0.011902	0	0
DNAH1	25981	broad.mit.edu	37	3	52380763	52380763	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:52380763C>T	uc011bef.2	+	10	2193	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D	DNAH1_uc003ddt.1_Silent_p.D644D	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	644	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTGGGGTGACGACTTAATTA	0.602000														7			25		0	0	0.006320	0	0
DNAH3	55567	broad.mit.edu	37	16	21049298	21049298	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:21049298C>T	uc010vbe.2	-	33	4735	c.4735G>A	c.(4735-4737)Gcc>Acc	p.A1579T		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1579	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCTTCTGGGCGAGACTAGAA	0.552000														45			4		0	0	0.009096	0	0
C1orf114	57821	broad.mit.edu	37	1	169364358	169364358	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:169364358C>T	uc001gga.1	-	5	1625	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	BLZF1_uc001gfy.3_Intron|C1orf114_uc001gfz.1_Missense_Mutation_p.R485H|C1orf114_uc009wvq.1_Missense_Mutation_p.R485H	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	486										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					CTGTTTAGAACGCTTAGCTTC	0.398000														58			39		0	0	0.027894	0	0
CLIC3	9022	broad.mit.edu	37	9	139889178	139889178	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:139889178G>A	uc004ckj.1	-	5	695	c.666C>T	c.(664-666)agC>agT	p.S222S		NM_004669	NP_004660	O95833	CLIC3_HUMAN	Homo sapiens chloride intracellular channel 3 (CLIC3), mRNA.	222	GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGATCTCGGCGCTGTGCGGAC	0.677000														24			21		0	0	0.010504	0	0
POF1B	79983	broad.mit.edu	37	X	84563165	84563165	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:84563165G>A	uc004eer.2	-	9	1161	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	POF1B_uc004ees.3_Missense_Mutation_p.R339W	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	339							actin binding	p.R339R(2)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGCTCCTCCCGTATGTTGCTA	0.358000														11			46		0	0	0.014410	0	0
LYPD4	147719	broad.mit.edu	37	19	42343292	42343292	+	Splice_Site	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:42343292C>T	uc002orp.1	-	2	1051	c.67_splice	c.e2+1	p.R23_splice	LYPD4_uc002orq.1_Missense_Mutation_p.R23H	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	23						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ACAGGACATACGAGGCAGAGT	0.577000														147			7		0	0	0.003080	0	0
DGKQ	1609	broad.mit.edu	37	4	960969	960969	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:960969G>A	uc003gbw.3	-	8	1242	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	DGKQ_uc010ibn.3_Missense_Mutation_p.R390W	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	390					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCAGAGCCCGGATGACCCAG	0.711000														19			3		0	0	0.009096	0	0
CALHM2	51063	broad.mit.edu	37	10	105209166	105209166	+	Missense_Mutation	SNP	C	T	T	rs139579411		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105209166C>T	uc001kxa.3	-	2	1144	c.533G>A	c.(532-534)cGc>cAc	p.R178H	CALHM2_uc001kxc.3_Missense_Mutation_p.R178H|CALHM2_uc001kxb.3_Missense_Mutation_p.R178H|CALHM2_uc001kxd.1_Missense_Mutation_p.R178H	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	178						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCTGAGCCTGCGGCTGACCTC	0.592000														123			33		0	0	0.015359	0	0
LGALS4	3960	broad.mit.edu	37	19	39299582	39299582	+	Silent	SNP	G	A	A	rs140167180		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:39299582G>A	uc002ojg.3	-	2	355	c.141C>T	c.(139-141)ttC>ttT	p.F47F	LGALS4_uc010xuj.2_Silent_p.F47F	NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	47	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAAAGTTCACGAAGAACCTGG	0.642000														19			7		0	0	0.001984	0	0
POU6F1	5463	broad.mit.edu	37	12	51586185	51586185	+	Missense_Mutation	SNP	C	T	T	rs139629485		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:51586185C>T	uc001rxy.3	-	2	511	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	POU6F1_uc001rxz.3_Missense_Mutation_p.A107T|POU6F1_uc001rya.3_Missense_Mutation_p.A107T	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA.	107	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.A107T(2)		breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GATGGCTTGGCGGCTGGAGCT	0.597000														153			83		0	0	0.014410	0	0
GDI1	2664	broad.mit.edu	37	X	153670771	153670771	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:153670771G>A	uc004fli.4	+	9	1529	c.1187G>A	c.(1186-1188)aGc>aAc	p.S396N	GDI1_uc004flj.3_Missense_Mutation_p.S61N|FAM50A_uc004fll.4_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.	396					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTTGTGAGAGCCAGGTAAGC	0.612000														31			131		0	0	0.014410	0	0
BFSP1	631	broad.mit.edu	37	20	17489628	17489628	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:17489628G>A	uc002wpo.3	-	4	680	c.641C>T	c.(640-642)aCg>aTg	p.T214M	BFSP1_uc002wpp.3_Missense_Mutation_p.T89M|BFSP1_uc010zrn.2_Missense_Mutation_p.T75M|BFSP1_uc010zro.2_Missense_Mutation_p.T75M	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	214	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTCCCGCTCCGTCAGGAGCTT	0.647000														17			11		0	0	0.013537	0	0
KRT83	3889	broad.mit.edu	37	12	52713013	52713013	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:52713013C>T	uc001saf.2	-	1	583	c.520G>A	c.(520-522)Gtg>Atg	p.V174M		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	174	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCCTCCACGCACTCGGCC	0.612000														169			81		0	0	0.014410	0	0
ITGA3	3675	broad.mit.edu	37	17	48157736	48157736	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:48157736C>T	uc010dbm.3	+	21	3281	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	ITGA3_uc010dbl.3_Silent_p.I939I	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	939					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GCACCTTCATCGAGGTCAGTG	0.602000														30			11		0	0	0.013537	0	0
CPNE3	8895	broad.mit.edu	37	8	87559941	87559941	+	Silent	SNP	T	C	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:87559941T>C	uc003ydv.2	+	10	984	c.822T>C	c.(820-822)atT>atC	p.I274I	CPNE3_uc003ydw.1_5'UTR	NM_003909	NP_003900	O75131	CPNE3_HUMAN	Homo sapiens copine III (CPNE3), mRNA.	274					lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ATTTTTAGATTACAGTAGAAT	0.308000														10			7		0	0	0.001984	0	0
SEMA3F	6405	broad.mit.edu	37	3	50224060	50224060	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50224060G>A	uc003cyj.3	+	17	2026	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	SEMA3F_uc003cyk.3_Missense_Mutation_p.V579M	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	610	Ig-like C2-type.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAAGAATGCCGTGGAGTCTGT	0.627000														68			22		0	0	0.021523	0	0
CD22	933	broad.mit.edu	37	19	35823774	35823774	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:35823774G>T	uc010edt.3	+	2	443	c.359G>T	c.(358-360)aGg>aTg	p.R120M	CD22_uc010edu.3_Missense_Mutation_p.R120M|CD22_uc010edv.3_Missense_Mutation_p.R120M|CD22_uc002nzb.4_Missense_Mutation_p.R120M|CD22_uc010xst.2_5'UTR	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	120	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTGGGGCTGAGGATGGAGTCC	0.542000														71			18		0.000132079	0.000132493	0.008871	1	0
TMEM86A	144110	broad.mit.edu	37	11	18723160	18723160	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:18723160G>A	uc001moz.1	+	2	410	c.327G>A	c.(325-327)tcG>tcA	p.S109S		NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN	Homo sapiens transmembrane protein 86A (TMEM86A), mRNA.	109						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TCTACGCCTCGGCCTTTGGCA	0.587000														91			92		0	0	0.014410	0	0
CIT	11113	broad.mit.edu	37	12	120189940	120189940	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:120189940G>A	uc001txj.2	-	22	2875	c.2819C>T	c.(2818-2820)gCg>gTg	p.A940V	CIT_uc001txh.2_Missense_Mutation_p.A432V|CIT_uc001txi.2_Missense_Mutation_p.A898V	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	898					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCAGGGCCGCCCGTGCAGC	0.627000														58			30		0	0	0.009535	0	0
STAP1	26228	broad.mit.edu	37	4	68447189	68447189	+	Splice_Site	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:68447189C>T	uc003hde.4	+	5	612	c.530_splice	c.e5+1	p.A177_splice	STAP1_uc003hdf.3_Splice_Site_p.A177_splice	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	177	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CCTATGCCAGCGTAAGTGCAC	0.393000														131			56		0	0	0.014410	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179043155	179043155	+	Silent	SNP	G	A	A	rs115293737	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:179043155G>A	uc021yjd.1	-	10	1303	c.1272C>T	c.(1270-1272)taC>taT	p.Y424Y	HNRNPH1_uc011dgn.2_Silent_p.Y134Y|HNRNPH1_uc003mkf.4_Silent_p.Y424Y|HNRNPH1_uc003mkg.4_Silent_p.Y332Y|HNRNPH1_uc003mke.4_Silent_p.Y424Y|HNRNPH1_uc003mkh.4_Silent_p.Y424Y	NM_005520	NP_005511	P31943	HNRH1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), mRNA.	424	2 X 16 AA Gly-rich approximate repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TCTGGCCACCGTAGCCGCCTC	0.473000														229			38		0	0	0.009718	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927121	130927121	+	Missense_Mutation	SNP	G	A	A	rs147881182	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:130927121G>A	uc001uil.2	-	7	941	c.725C>T	c.(724-726)aCg>aTg	p.T242M	RIMBP2_uc001uim.3_Missense_Mutation_p.T150M	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	242						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTTCCCCAGCGTGCTTGCCAA	0.592000														118			30		0	0	0.008361	0	0
LIPE	3991	broad.mit.edu	37	19	42912409	42912409	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:42912409G>A	uc002otr.3	-	2	1762	c.1485C>T	c.(1483-1485)caC>caT	p.H495H	AK311181_uc010eif.1_Intron|LIPE_uc002ots.1_Silent_p.H240H	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	495					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGCGTTTGTAGTGCTCCCCGA	0.627000														211			45		0	0	0.014410	0	0
EFEMP2	30008	broad.mit.edu	37	11	65635366	65635366	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:65635366C>T	uc001ofy.4	-	9	1395	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	379					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GTTTCCAGCACGGATCTGAAA	0.552000														132			40		0	0	0.014410	0	0
KIF26B	55083	broad.mit.edu	37	1	245848743	245848743	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:245848743G>A	uc001ibf.1	+	11	2898	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	KIF26B_uc001ibg.1_Missense_Mutation_p.E438K|KIF26B_uc001ibh.1_Missense_Mutation_p.E62K	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	820					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGCTCCTGCGAAGAAGGCCG	0.652000														36			18		0	0	0.010504	0	0
ARC	23237	broad.mit.edu	37	8	143694472	143694472	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:143694472G>A	uc022bca.1	-	0	1161	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	ARC_uc003ywn.1_Silent_p.S387S	NM_015193	NP_056008	Q7LC44	ARC_HUMAN	Homo sapiens activity-regulated cytoskeleton-associated protein (ARC), mRNA.	387					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CACTGGCCACGGACTCGCTGT	0.701000														11			11		0	0	0.013537	0	0
SYNPO	11346	broad.mit.edu	37	5	150029450	150029450	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:150029450G>A	uc003lsn.3	+	2	2719	c.2345G>A	c.(2344-2346)cGg>cAg	p.R782Q	SYNPO_uc021yfu.1_Missense_Mutation_p.R782Q|SYNPO_uc003lso.4_Missense_Mutation_p.R538Q|SYNPO_uc003lsp.3_Missense_Mutation_p.R538Q|SYNPO_uc021yfv.1_Missense_Mutation_p.R538Q	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	782	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCAGCCCGGACCCCGCCT	0.687000														211			55		0	0	0.014410	0	0
MAN2B1	4125	broad.mit.edu	37	19	12768302	12768302	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12768302G>A	uc002mub.2	-	10	1453	c.1377C>T	c.(1375-1377)aaC>aaT	p.N459N	MAN2B1_uc010dyv.1_Silent_p.N458N	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	459					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCGCGTAGTCGTTGGCCACGT	0.682000														3			4		0	0	0.001984	0	0
OR10G7	390265	broad.mit.edu	37	11	123909049	123909049	+	Silent	SNP	G	A	A	rs12291067	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:123909049G>A	uc001pzq.1	-	0	660	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGAACAGACGATGGACACAT	0.557000														106			31		0	0	0.009535	0	0
CSMD2	114784	broad.mit.edu	37	1	34180250	34180250	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:34180250C>T	uc001bxm.1	-	20	3520	c.3343G>A	c.(3343-3345)Gcc>Acc	p.A1115T	CSMD2_uc001bxn.1_Missense_Mutation_p.A1075T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1075	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGATGCGGGCGGTGCCCTCC	0.632000														245			136		0	0	0.014410	0	0
SPEN	23013	broad.mit.edu	37	1	16202978	16202978	+	Missense_Mutation	SNP	G	A	A	rs139125517		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:16202978G>A	uc001axk.1	+	2	890	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	SPEN_uc010obp.1_Missense_Mutation_p.R188Q	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	229	Arg-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGGGAGGTACGAGGCAGAAGG	0.542000														95			45		0	0	0.013114	0	0
AKAP9	10142	broad.mit.edu	37	7	91737807	91737807	+	Splice_Site	SNP	G	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:91737807G>T	uc003ulg.3	+	49	11772	c.11547_splice	c.e49-1	p.R3849_splice	AKAP9_uc003ulf.3_Splice_Site_p.R3841_splice|AKAP9_uc003uli.3_Splice_Site_p.R3472_splice|AKAP9_uc003ulj.3_Splice_Site_p.R1619_splice|AKAP9_uc003ull.3_Splice_Site_p.R745_splice	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3853					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAATCCTTTAGGTACCCAGGC	0.423000			T	BRAF	papillary thyroid									98			15		1.67942e-08	1.69799e-08	0.006122	1	0
ESRRB	2103	broad.mit.edu	37	14	76905826	76905826	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:76905826G>A	uc001xsr.3	+	3	501	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.G44S	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CGCCAGCGGCGGCTTTGGCCT	0.692000														20			50		0	0	0.014410	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925272	67925272	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67925272G>A	uc001onm.1	-	10	2797	c.2541C>T	c.(2539-2541)gaC>gaT	p.D847D	SUV420H1_uc009yse.1_Silent_p.D433D|SUV420H1_uc001onn.1_Silent_p.D675D|SUV420H1_uc009ysf.2_Silent_p.D607D	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	847					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAATAAAATCGTCTTCAAAGT	0.403000														43			39		0	0	0.019004	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079942	70079942	+	Missense_Mutation	SNP	G	A	A	rs148268917		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:70079942G>A	uc003heh.3	-	0	508	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	167					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R167R(3)|p.R167Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TACACAAACCGTATGTTAAGT	0.418000														93			51		0	0	0.014410	0	0
GGT6	124975	broad.mit.edu	37	17	4461802	4461802	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:4461802G>A	uc010vsc.2	-	3	1068	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	GGT6_uc010vsb.2_Silent_p.S182S|GGT6_uc002fyd.4_Silent_p.S330S|GGT6_uc002fyc.4_Silent_p.S298S	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	330					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGGCGCCCCGGAGCGCAGGG	0.692000														13			3		0	0	0.004672	0	0
CDH23	64072	broad.mit.edu	37	10	73461953	73461953	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:73461953G>A	uc001jrx.4	+	21	2956	c.2566G>A	c.(2566-2568)Gtc>Atc	p.V856I	CDH23_uc001jry.3_Missense_Mutation_p.V856I|CDH23_uc001jrz.3_Missense_Mutation_p.V856I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	858	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.A855G(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAAAATCGTCGTCTCTGTTAC	0.657000														178			40		0	0	0.011902	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619474	7619474	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:7619474C>T	uc010xjq.2	+	22	2769	c.2529C>T	c.(2527-2529)gcC>gcT	p.A843A	PNPLA6_uc002mgq.2_Silent_p.A795A|PNPLA6_uc010xjp.2_Silent_p.A768A|PNPLA6_uc002mgr.2_Silent_p.A795A|PNPLA6_uc002mgs.3_Silent_p.A833A	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	834					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGTGGCTGGCCCAGCAGGAGG	0.652000														76			26		0	0	0.024334	0	0
MLL2	8085	broad.mit.edu	37	12	49422916	49422916	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49422916A>G	uc001rta.4	-	43	14179	c.14179T>C	c.(14179-14181)Tca>Cca	p.S4727P		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4727					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CACCGGCCTGAGCCCAGATGA	0.617000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				59			12		0	0	0.013537	0	0
POLR1B	84172	broad.mit.edu	37	2	113322007	113322007	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:113322007C>T	uc002thw.2	+	9	2257	c.1677C>T	c.(1675-1677)gaC>gaT	p.D559D	POLR1B_uc010fkn.2_Silent_p.D503D|POLR1B_uc002thx.2_Silent_p.D420D|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_5'UTR|POLR1B_uc002thy.2_Silent_p.D420D|POLR1B_uc010yxo.1_Silent_p.D336D	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	559					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCCTGCTGGACGGTGTCATGG	0.502000														135			74		0	0	0.014410	0	0
CDH4	1002	broad.mit.edu	37	20	60503309	60503309	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60503309C>T	uc002ybn.2	+	11	1921	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	CDH4_uc002ybr.2_Silent_p.N574N|CDH4_uc002ybp.2_Silent_p.N537N	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	611	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCAACGACAACGCCCCTGAGC	0.627000														354			82		0	0	0.014410	0	0
LPCAT2	54947	broad.mit.edu	37	16	55613052	55613052	+	Missense_Mutation	SNP	C	T	T	rs142090669	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:55613052C>T	uc002eie.4	+	12	1527	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	LPCAT2_uc002eic.3_Missense_Mutation_p.T179M	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	449	EF-hand 2.				cellular membrane organization|platelet activating factor biosynthetic process	Golgi membrane|Golgi stack|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GGCTACATAACGGAGGAAGAG	0.433000														131			19		0	0	0.007413	0	0
PELI3	246330	broad.mit.edu	37	11	66243521	66243521	+	Silent	SNP	C	A	A	rs139368303		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66243521C>A	uc001oic.4	+	7	1457	c.1293C>A	c.(1291-1293)gcC>gcA	p.A431A	PELI3_uc021qlx.1_Silent_p.A407A|PELI3_uc001oid.4_Silent_p.A407A|PELI3_uc021qly.1_Silent_p.A324A	NM_145065	NP_001230065	Q8N2H9	PELI3_HUMAN	Homo sapiens pellino homolog 3 (Drosophila) (PELI3), transcript variant 1, mRNA.	431						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GCTACTGGGCCCAGACACCAC	0.672000														18			10		2.17888e-05	2.18914e-05	0.006214	1	0
HTR1D	3352	broad.mit.edu	37	1	23519885	23519885	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:23519885G>A	uc001bgn.3	-	0	1338	c.828C>T	c.(826-828)caC>caT	p.H276H		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	276					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGATTTTCACGTGGTTGAAAA	0.567000														103			83		0	0	0.014410	0	0
SLC13A3	64849	broad.mit.edu	37	20	45217829	45217829	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:45217829C>T	uc002xsf.2	-	6	1026	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	SLC13A3_uc010ghn.2_Missense_Mutation_p.R298Q|SLC13A3_uc010zxx.2_Missense_Mutation_p.R231Q|SLC13A3_uc010zxw.2_Missense_Mutation_p.R279Q|SLC13A3_uc002xsg.2_Missense_Mutation_p.R282Q|SLC13A3_uc010gho.2_Missense_Mutation_p.R282Q	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	329						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GTATTCTTCCCGAATTACAGC	0.502000														130			24		0	0	0.024334	0	0
SH2D3C	10044	broad.mit.edu	37	9	130511902	130511902	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:130511902G>A	uc004bsc.3	-	4	869	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	SH2D3C_uc010mxo.3_Missense_Mutation_p.R83W|SH2D3C_uc004bry.3_Missense_Mutation_p.R85W|SH2D3C_uc004brz.4_5'UTR|SH2D3C_uc011mak.2_5'UTR|SH2D3C_uc004bsb.3_Missense_Mutation_p.R175W|SH2D3C_uc004bsa.3_Missense_Mutation_p.R86W	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	243	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTGAGTCCCGGATGAGGAAG	0.612000														15			6		0	0	0.001984	0	0
ITGA7	3679	broad.mit.edu	37	12	56094110	56094110	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56094110G>A	uc001shh.3	-	4	958	c.738C>T	c.(736-738)taC>taT	p.Y246Y	ITGA7_uc001shg.3_Intron|ITGA7_uc010sps.2_Silent_p.Y149Y|ITGA7_uc009znx.3_Intron	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	246					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCCGCCTCGTAGGGACCGT	0.662000														54			24		0	0	0.018920	0	0
BTBD17	388419	broad.mit.edu	37	17	72353354	72353354	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:72353354G>A	uc002jkn.2	-	2	879	c.879C>T	c.(877-879)caC>caT	p.H293H		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.	293						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						GCGACGCGGCGTGGAACTGGT	0.731000														3			16		0	0	0.004990	0	0
ODC1	4953	broad.mit.edu	37	2	10582006	10582006	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:10582006G>A	uc010exg.1	-	9	1397	c.963C>T	c.(961-963)ggC>ggT	p.G321G	ODC1_uc002rao.1_Silent_p.G321G|ODC1_uc010yjd.1_Silent_p.G191G	NM_002539	NP_002530	P11926	DCOR_HUMAN	Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA.	321					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	ATCCATAGACGCCATCATTCA	0.378000														236			34		0	0	0.015359	0	0
MARVELD2	153562	broad.mit.edu	37	5	68716104	68716104	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:68716104G>A	uc003jwq.3	+	1	966	c.892G>A	c.(892-894)Gtt>Att	p.V298I	MARVELD2_uc010ixf.3_Missense_Mutation_p.V298I|MARVELD2_uc003jws.1_Intron	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	298	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TGGAATTAACGTTGCCTTGTT	0.423000														112			56		0	0	0.014410	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815752	56815752	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56815752C>T	uc001slf.2	-	20	2741	c.2573G>A	c.(2572-2574)cGa>cAa	p.R858Q		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	858					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTGCGTGTTCGAGGAACAGT	0.547000														110			91		0	0	0.014410	0	0
CILP2	148113	broad.mit.edu	37	19	19655182	19655182	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:19655182G>A	uc002nmw.4	+	7	1931	c.1846G>A	c.(1846-1848)Gtg>Atg	p.V616M	CILP2_uc002nmv.4_Missense_Mutation_p.V610M	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	610						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGTGACGTTCGTGGACCCCCG	0.692000														175			77		0	0	0.014410	0	0
USP20	10868	broad.mit.edu	37	9	132631191	132631191	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:132631191G>A	uc004bys.2	+	11	1397	c.1186G>A	c.(1186-1188)Gtc>Atc	p.V396I	USP20_uc004byr.2_Missense_Mutation_p.V396I|USP20_uc004byt.1_Missense_Mutation_p.V396I	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	396					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTGCAGCCCCGTCCACCACCA	0.672000														96			15		0	0	0.006122	0	0
FAM47A	158724	broad.mit.edu	37	X	34149532	34149532	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:34149532G>A	uc004ddg.3	-	0	916	c.864C>T	c.(862-864)gaC>gaT	p.D288D		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	288										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTGTGGGTTCGTCAGTTGTCT	0.577000														29			13		0	0	0.013537	0	0
SLC9A5	6553	broad.mit.edu	37	16	67289369	67289369	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67289369G>A	uc002esm.3	+	3	791	c.728G>A	c.(727-729)gGa>gAa	p.G243E	SLC9A5_uc010cee.3_5'UTR|SLC9A5_uc010vji.2_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	243					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TACCTGAAGGGAGTCGGTCAG	0.587000														60			56		0	0	0.014410	0	0
CD28	940	broad.mit.edu	37	2	204599561	204599561	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:204599561C>T	uc002vah.4	+	3	811	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	CD28_uc010zio.2_Missense_Mutation_p.R100C|CD28_uc010ftx.3_Missense_Mutation_p.R78C|CD28_uc002vaj.4_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	197					T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CATGACTCCCCGCCGCCCCGG	0.597000														173			83		0	0	0.014410	0	0
C11orf41	25758	broad.mit.edu	37	11	33604946	33604946	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33604946G>A	uc021qfs.1	+	9	3698	c.3574G>A	c.(3574-3576)Gtg>Atg	p.V1192M	C11orf41_uc001mun.1_Missense_Mutation_p.V1198M	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1192						integral to membrane		p.A1191T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						GCCCATTGCCGTGGTCACGGT	0.547000														11			9		0	0	0.006214	0	0
DHX38	9785	broad.mit.edu	37	16	72130788	72130788	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:72130788C>T	uc002fcb.3	+	2	746	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	131					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTTTTGGGAACGCAGTCGGCA	0.547000														154			148		0	0	0.014410	0	0
KIAA0284	283638	broad.mit.edu	37	14	105354097	105354097	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:105354097G>A	uc001yps.3	+	10	3617	c.3311G>A	c.(3310-3312)cGg>cAg	p.R1104Q	KIAA0284_uc010axb.3_Missense_Mutation_p.R1104Q|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1174						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GCCATGCCCCGGAAGCGGGCC	0.697000														8			4		0	0	0.014758	0	0
NOP14	8602	broad.mit.edu	37	4	2943380	2943380	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:2943380C>T	uc003ggj.1	-	14	2200	c.2128G>A	c.(2128-2130)Gcc>Acc	p.A710T	NOP14-AS1_uc003ggd.1_Non-coding_Transcript|NOP14-AS1_uc003gge.1_Intron|NOP14-AS1_uc003ggg.1_Non-coding_Transcript|NOP14-AS1_uc003ggh.3_Intron|NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggl.3_Missense_Mutation_p.A710T	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	710					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding	p.H709H(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCCATGATGGCGTGGAAGGAT	0.662000														33			19		0	0	0.014323	0	0
MIER3	166968	broad.mit.edu	37	5	56231270	56231270	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:56231270C>T	uc003jrc.1	-	6	620	c.595G>A	c.(595-597)Gat>Aat	p.D199N	MIER3_uc003jqz.1_Missense_Mutation_p.D131N|MIER3_uc003jrd.1_Missense_Mutation_p.D194N|MIER3_uc003jra.1_Missense_Mutation_p.D194N|MIER3_uc003jrb.1_Missense_Mutation_p.D18N	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	Homo sapiens mesoderm induction early response 1, family member 3 (MIER3), mRNA.	194	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCATTACCATCGTACTCTCCA	0.313000														121			26		0	0	0.007291	0	0
BTBD17	388419	broad.mit.edu	37	17	72353024	72353024	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:72353024G>A	uc002jkn.2	-	2	1209	c.1209C>T	c.(1207-1209)gaC>gaT	p.D403D		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.	403						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						CGCCCGCCGCGTCGCCGCCGC	0.771000														4			10		0	0	0.016723	0	0
FBLN1	2192	broad.mit.edu	37	22	45914668	45914668	+	Splice_Site	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:45914668G>A	uc010gzz.3	+	2	332	c.185_splice	c.e2+1	p.R62_splice	FBLN1_uc003bgg.1_Splice_Site_p.R62_splice|FBLN1_uc003bgh.3_Splice_Site_p.R62_splice|FBLN1_uc003bgi.1_Splice_Site_p.R62_splice|FBLN1_uc003bgj.1_Splice_Site_p.R62_splice	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	62	Anaphylatoxin-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAGAATGCAGGTACGTTTGCC	0.567000														14			14		0	0	0.016723	0	0
C16orf92	146378	broad.mit.edu	37	16	30035371	30035371	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:30035371C>T	uc002dvr.2	+	2	282	c.275C>T	c.(274-276)gCg>gTg	p.A92V	BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvs.2_Missense_Mutation_p.A114V	NM_001109659	NP_001103129	Q96LL3	CP092_HUMAN	Homo sapiens chromosome 16 open reading frame 92 (C16orf92), transcript variant 1, mRNA.	114						integral to membrane				breast(3)|lung(3)	6						CTGGTGGTGGCGTTCTTCTTT	0.582000														74			63		0	0	0.014410	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163946	141163946	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:141163946G>A	uc010hup.3	+	1	2766	c.2719G>A	c.(2719-2721)Gca>Aca	p.A907T	ZBTB38_uc003etw.3_Missense_Mutation_p.A906T|ZBTB38_uc010hun.3_Missense_Mutation_p.A903T|ZBTB38_uc010huo.3_Missense_Mutation_p.A906T|ZBTB38_uc003ety.3_Missense_Mutation_p.A906T|ZBTB38_uc021xes.1_Missense_Mutation_p.A906T	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	906					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTTCGATGACGCAAGTGACCA	0.502000														17			44		0	0	0.014410	0	0
TNPO2	30000	broad.mit.edu	37	19	12817117	12817117	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12817117C>T	uc002mup.3	-	12	2299	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N	TNPO2_uc002muq.3_Missense_Mutation_p.D521N|TNPO2_uc002muo.3_Missense_Mutation_p.D521N|TNPO2_uc002mur.3_Missense_Mutation_p.D521N	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	521					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAAGGGTGTCCAGGATGTAG	0.587000														72			19		0	0	0.014323	0	0
FLNB	2317	broad.mit.edu	37	3	58108831	58108831	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:58108831C>T	uc003djj.2	+	20	3303	c.3138C>T	c.(3136-3138)caC>caT	p.H1046H	FLNB_uc010hne.2_Silent_p.H1046H|FLNB_uc003djk.2_Silent_p.H1046H|FLNB_uc010hnf.2_Silent_p.H1046H|FLNB_uc003djl.2_Silent_p.H877H|FLNB_uc003djm.2_Silent_p.H877H	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1046					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGAAGGCCCACGGTCCCGGCC	0.542000														157			35		0	0	0.015359	0	0
PALM	5064	broad.mit.edu	37	19	746408	746408	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:746408C>T	uc002lpm.1	+	8	952	c.758C>T	c.(757-759)gCg>gTg	p.A253V	PALM_uc002lpn.1_Missense_Mutation_p.A209V|PALM_uc010xfu.1_Missense_Mutation_p.A118V	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	253					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		ACGGCCGGGGCGGCAGAGACC	0.726000														35			18		0	0	0.007413	0	0
TSKS	60385	broad.mit.edu	37	19	50265270	50265270	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50265270C>T	uc002ppm.3	-	1	401	c.390G>A	c.(388-390)acG>acA	p.T130T		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	130							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCAGGATTTCCGTGATGTCTG	0.622000														111			9		0	0	0.004482	0	0
NT5DC3	51559	broad.mit.edu	37	12	104208744	104208744	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:104208744C>T	uc010swe.1	-	1	405	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	122							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGGTCCCGTGCAGCATTAAAT	0.448000														121			74		0	0	0.014410	0	0
FBXL13	222235	broad.mit.edu	37	7	102669158	102669158	+	Missense_Mutation	SNP	C	T	T	rs147832645	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:102669158C>T	uc003vaq.2	-	3	533	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	FBXL13_uc010lir.1_Missense_Mutation_p.V36I|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.V36I|FBXL13_uc003vav.2_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	36								p.V36F(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCAGCCAGGACGACATTTTCA	0.343000														41			29		0	0	0.013726	0	0
NPC1	4864	broad.mit.edu	37	18	21114452	21114452	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:21114452G>A	uc002kum.4	-	22	3823	c.3549C>T	c.(3547-3549)cgC>cgT	p.R1183R	NPC1_uc010dlu.1_5'Flank|NPC1_uc010xaz.2_Silent_p.R916R	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	1183					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGCGCTCCACGCGGCTGCCTT	0.587000														19			26		0	0	0.008361	0	0
INSC	387755	broad.mit.edu	37	11	15197574	15197574	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:15197574G>A	uc001mlz.3	+	2	455	c.344G>A	c.(343-345)cGc>cAc	p.R115H	INSC_uc001mly.3_Missense_Mutation_p.R162H|INSC_uc001mma.3_Missense_Mutation_p.R115H|INSC_uc010rcs.2_Missense_Mutation_p.R115H|INSC_uc001mmb.3_Missense_Mutation_p.R115H|INSC_uc001mmc.3_Missense_Mutation_p.R115H	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	162					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCCATGCCCGCTCCATGGTC	0.622000														10			6		0	0	0.003080	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885827	45885827	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:45885827C>T	uc002pbn.3	-	11	2483	c.2406G>A	c.(2404-2406)gcG>gcA	p.A802A	PPP1R13L_uc002pbm.3_Silent_p.A381A|PPP1R13L_uc002pbo.3_Silent_p.A802A	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	802	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	p.A802A(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGCCGTGCAGCGCGGCCCACC	0.697000														102			31		0	0	0.012213	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64536656	64536656	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:64536656C>T	uc003dmg.3	-	30	4813	c.4781G>A	c.(4780-4782)cGc>cAc	p.R1594H	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R1566H|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R1423H|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R505H	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1594	TSP type-1 13.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACGTCACAGCGTGCCCCATG	0.552000														64			156		0	0	0.014410	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49687793	49687793	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:49687793G>A	uc001jgu.3	-	3	634	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	ARHGAP22_uc001jgs.3_Missense_Mutation_p.R23W|ARHGAP22_uc001jgt.3_Missense_Mutation_p.R113W|ARHGAP22_uc010qgl.2_Intron|ARHGAP22_uc010qgm.2_Missense_Mutation_p.R119W|ARHGAP22_uc001jgv.3_5'UTR|BC043540_uc001jgw.3_5'Flank	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	113	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTTCTCCCGCTCCCCGGCA	0.672000														20			9		0	0	0.006214	0	0
LRP1B	53353	broad.mit.edu	37	2	141816539	141816539	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:141816539G>A	uc002tvj.1	-	8	2293	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	441					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R441Q(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTAAATCGGTTTATCCTT	0.328000										TSP Lung(27;0.18)				89			7		0	0	0.001984	0	0
USP32	84669	broad.mit.edu	37	17	58259033	58259033	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:58259033C>T	uc002iyo.1	-	31	4486	c.4200G>A	c.(4198-4200)cgG>cgA	p.R1400R	USP32_uc002iyn.1_Silent_p.R1070R	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1400					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCCCCAAAGTCCGTGGGCTGC	0.483000														56			16		0	0	0.024245	0	0
IL18R1	8809	broad.mit.edu	37	2	103013337	103013337	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:103013337C>T	uc002tbw.4	+	10	1767	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	IL18R1_uc010ywd.2_Silent_p.S383S|IL18R1_uc010fiy.3_Silent_p.S539S|IL18R1_uc010ywc.2_Silent_p.S538S	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	539					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTGTTCTTTCCGAGTCTTAAT	0.413000														42			20		0	0	0.008871	0	0
NTN3	4917	broad.mit.edu	37	16	2522004	2522004	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2522004C>T	uc002cqj.3	+	0	505	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	101	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CTGCCTCGGGCGCCCCTCAAC	0.706000														53			15		0	0	0.020292	0	0
IQCH	64799	broad.mit.edu	37	15	67629360	67629360	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:67629360G>A	uc002aqo.2	+	4	532	c.435G>A	c.(433-435)acG>acA	p.T145T	IQCH_uc010ujv.2_Intron|IQCH_uc002aqn.2_Intron|IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	145								p.L144F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCAGCCTCACGGTTCTGCCAT	0.383000														134			8		0	0	0.004482	0	0
IL17RA	23765	broad.mit.edu	37	22	17589817	17589817	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:17589817G>A	uc002zly.3	+	12	1839	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	570					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GCTCCGCGCCGCCCTGGACAG	0.677000														32			7		0	0	0.003080	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212350	26212350	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:26212350C>T	uc022buc.1	+	0	387	c.387C>T	c.(385-387)aaC>aaT	p.N129N	MAGEB6_uc004dbr.3_Silent_p.N129N	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	129	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGGCTGCCAACGGCCAAGATG	0.557000														18			78		0	0	0.014410	0	0
ZNF841	284371	broad.mit.edu	37	19	52569526	52569526	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:52569526C>T	uc010ydh.1	-	6	2069	c.1609G>A	c.(1609-1611)Gga>Aga	p.G537R	ZNF841_uc002pyl.1_Missense_Mutation_p.G421R	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GGTTTCTCTCCGGTATGAATT	0.398000														25			10		0	0	0.006214	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691350	39691350	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:39691350G>A	uc002okq.1	+	5	801	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	261	FBA.				protein catabolic process			p.R260R(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGGCTGCGGCGGACACGGGTG	0.632000														246			196		0	0	0.014410	0	0
SEMA4D	10507	broad.mit.edu	37	9	91993634	91993634	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:91993634G>A	uc004aqo.1	-	17	3146	c.2574C>T	c.(2572-2574)gaC>gaT	p.D858D	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Silent_p.D858D	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	858					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTCCATCTGCGTCTGAGTCAG	0.582000														42			30		0	0	0.008361	0	0
BRD3	8019	broad.mit.edu	37	9	136910513	136910513	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:136910513C>T	uc004cew.3	-	6	1305	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	BRD3_uc004cex.2_Missense_Mutation_p.A373T	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	373	Bromo 2.					nucleus	protein binding	p.A373T(2)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AAGCCCTGTGCGTCTGGGTAC	0.592000			T	C15orf55	lethal midline carcinoma of young people									230			38		0	0	0.009718	0	0
DARS2	55157	broad.mit.edu	37	1	173826739	173826739	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:173826739G>A	uc001gjh.2	+	16	2405	c.1834G>A	c.(1834-1836)Gac>Aac	p.D612N		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	Homo sapiens aspartyl-tRNA synthetase 2, mitochondrial (DARS2), nuclear gene encoding mitochondrial protein, mRNA.	612					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	ATP binding|aspartate-tRNA ligase activity|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CCGGGGACATGACCTCATGAG	0.483000														122			31		0	0	0.009535	0	0
UGT1A1	54658	broad.mit.edu	37	2	234526381	234526381	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234526381A>G	uc002vup.3	+	0	91	c.28A>G	c.(28-30)Att>Gtt	p.I10V	UGT1A1_uc010zmv.1_Missense_Mutation_p.I10V	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	0					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GACCAGCCCCATTCCCCTATG	0.572000														64			57		0	0	0.014410	0	0
DNAJC16	23341	broad.mit.edu	37	1	15874846	15874846	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:15874846C>T	uc001aws.3	+	6	1066	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	DNAJC16_uc001awr.1_Missense_Mutation_p.R316W|DNAJC16_uc001awt.3_Missense_Mutation_p.R4W	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	316					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATGACAAGGCGGTACAACAT	0.428000														43			34		0	0	0.015359	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025905	176025905	+	Nonsense_Mutation	SNP	C	A	A	rs147380779	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:176025905C>A	uc003meo.1	-	1	1106	c.931G>T	c.(931-933)Gga>Tga	p.G311*	GPRIN1_uc021yif.1_Nonsense_Mutation_p.G311*	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	311						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGTCTTTCCTGTGGACGCA	0.572000														115			64		6.75472e-32	6.92792e-32	0.014410	1	0
PTPN3	5774	broad.mit.edu	37	9	112166752	112166752	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:112166752G>A	uc004bed.2	-	18	2041	c.1929C>T	c.(1927-1929)agC>agT	p.S643S	PTPN3_uc004beb.2_Silent_p.S512S|PTPN3_uc004bec.2_Silent_p.S467S|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Silent_p.S598S|PTPN3_uc011lwh.1_Silent_p.S489S|PTPN3_uc011lwd.1_Silent_p.S111S|PTPN3_uc011lwe.1_Silent_p.S356S|PTPN3_uc011lwf.1_Silent_p.S311S	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	643					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCACCGTCCCGCTTTCGAGGC	0.572000														73			48		0	0	0.014410	0	0
IPW	3653	broad.mit.edu	37	15	25331678	25331678	+	RNA	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:25331678C>T	uc001yyb.4	+	2		c.287C>T			IPW_uc001yxh.1_Intron|IPW_uc001yxm.1_Intron|IPW_uc001yxn.4_Intron|IPW_uc001yxy.3_Intron|IPW_uc001yyd.3_Intron|IPW_uc001yye.1_Non-coding_Transcript|SNORD116-20_uc001yyf.3_5'Flank					Homo sapiens imprinted in Prader-Willi syndrome (non-protein coding) (IPW), non-coding RNA.																		GTGCGTGGATCGATGATGACT	0.453000														196			47		0	0	0.014410	0	0
VAV1	7409	broad.mit.edu	37	19	6772867	6772867	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:6772867C>G	uc002mfu.1	+	0	146	c.49C>G	c.(49-51)Ctg>Gtg	p.L17V	VAV1_uc010xjh.1_Missense_Mutation_p.L17V|VAV1_uc010dva.1_Missense_Mutation_p.L17V	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	17	CH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGCCGGGTGCTGCCGCCCAG	0.677000														80			15		0	0	0.004990	0	0
NLRP2	55655	broad.mit.edu	37	19	55494882	55494882	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55494882C>T	uc021vbq.1	+	5	1927	c.1816C>T	c.(1816-1818)Ctc>Ttc	p.L606F	NLRP2_uc010yfp.2_Missense_Mutation_p.L583F|NLRP2_uc002qij.3_Missense_Mutation_p.L606F|NLRP2_uc010esp.3_Missense_Mutation_p.L584F|NLRP2_uc010esn.3_Missense_Mutation_p.L582F|NLRP2_uc010eso.3_Missense_Mutation_p.L603F	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	606					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCAGGAGCTCCTCGGCTGTCT	0.517000														39			31		0	0	0.015359	0	0
CHST15	51363	broad.mit.edu	37	10	125804256	125804256	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125804256G>A	uc001lhn.3	-	2	1460	c.726C>T	c.(724-726)caC>caT	p.H242H	CHST15_uc001lhm.3_Silent_p.H242H|CHST15_uc010que.2_Silent_p.H242H|CHST15_uc001lho.3_Silent_p.H242H	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	242					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCCCGTGCGCGTGCGCCAGGT	0.662000														25			15		0	0	0.004990	0	0
ZFP41	286128	broad.mit.edu	37	8	144332526	144332526	+	Silent	SNP	C	T	T	rs149671213		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144332526C>T	uc003yxw.3	+	1	871	c.513C>T	c.(511-513)taC>taT	p.Y171Y	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Silent_p.Y171Y	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	171					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGAAGCCCTACGAATGCACGC	0.592000														114			40		0	0	0.025465	0	0
TDG	6996	broad.mit.edu	37	12	104376688	104376688	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:104376688C>T	uc001tkg.3	+	4	813	c.590C>T	c.(589-591)aCg>aTg	p.T197M	TDG_uc009zuk.3_Missense_Mutation_p.T193M|TDG_uc010swi.2_Missense_Mutation_p.T54M|TDG_uc010swj.2_Missense_Mutation_p.R13C	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	197					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GAAAGGACCACGCCCGGCAGC	0.463000								Base excision repair (BER), DNA glycosylases						118			63		0	0	0.014410	0	0
FAM179A	165186	broad.mit.edu	37	2	29240816	29240816	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:29240816G>A	uc010ezl.3	+	9	1705	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T	FAM179A_uc010ymm.2_Intron|FAM179A_uc002rmr.4_Intron	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	452							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCCCGCCACGCCTCAGGTGG	0.672000														21			9		0	0	0.024245	0	0
RANBP2	5903	broad.mit.edu	37	2	109383056	109383056	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:109383056G>A	uc002tem.4	+	19	6187	c.6061G>A	c.(6061-6063)Gaa>Aaa	p.E2021K		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2021	RanBD1 2.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCAAATGCCCGAAAAAGTAGA	0.388000														373			325		0	0	0.014410	0	0
ZMYM3	9203	broad.mit.edu	37	X	70464210	70464210	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:70464210C>A	uc004dzh.2	-	19	3401	c.3222G>T	c.(3220-3222)tgG>tgT	p.W1074C	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.W1074C|ZMYM3_uc004dzj.2_Missense_Mutation_p.W1062C	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	1074					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGACTGCACCCAGCACTTCC	0.557000														22			19		4.96729e-08	5.0143e-08	0.008871	1	0
DHX37	57647	broad.mit.edu	37	12	125434988	125434988	+	Missense_Mutation	SNP	C	T	T	rs146274723	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:125434988C>T	uc001ugy.3	-	22	3191	c.3092G>A	c.(3091-3093)cGg>cAg	p.R1031Q	DHX37_uc001ugz.1_Missense_Mutation_p.R118Q	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	1031							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.G1030W(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		ACACAGCACCCGCCCCCGCTC	0.657000														32			29		0	0	0.007291	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401406	139401406	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:139401406G>A	uc004chz.3	-	22	3663	c.3663C>T	c.(3661-3663)aaC>aaT	p.N1221N	NOTCH1_uc004cia.1_Silent_p.N451N	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1221	EGF-like 32; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGTCGTCCACGTTGATCTCAC	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				24			14		0	0	0.024245	0	0
DUSP8	1850	broad.mit.edu	37	11	1578531	1578531	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1578531C>T	uc001lts.2	-	6	1223	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	MOB2_uc001ltq.2_Intron	NM_004420	NP_004411	Q13202	DUS8_HUMAN	Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.	365	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CGCTGGTcgccgggggcgtgg	0.731000														4			6		0	0	0.021553	0	0
DNAH17	8632	broad.mit.edu	37	17	76558007	76558007	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:76558007G>A	uc010dhp.2	-	11	1750	c.1625C>T	c.(1624-1626)gCg>gTg	p.A542V	DNAH17_uc002jvv.2_Missense_Mutation_p.A244V	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATACCTGGGCGCCACCTCGGC	0.587000														9			60		0	0	0.014410	0	0
FAM46C	54855	broad.mit.edu	37	1	118166435	118166435	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:118166435C>T	uc021osq.1	+	0	945	c.945C>T	c.(943-945)aaC>aaT	p.N315N	FAM46C_uc001ehe.3_Silent_p.N315N	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	315										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGGTGGTGAACGAGAGCACCG	0.527000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				62			45		0	0	0.011902	0	0
C11orf2	738	broad.mit.edu	37	11	64875676	64875676	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64875676G>A	uc001ocr.1	+	4	773	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	C11orf2_uc001ocs.1_Missense_Mutation_p.G121S	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	245					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						CAGGGAGGGCGGCTCAGGCGC	0.716000														17			5		0	0	0.014758	0	0
ZNF143	7702	broad.mit.edu	37	11	9522711	9522711	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:9522711C>T	uc001mhr.3	+	10	1160	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	ZNF143_uc009yfu.3_Silent_p.H346H|ZNF143_uc010rby.2_Silent_p.H316H	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	347					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GAAAAGTGCACGTTAGGACAC	0.433000														115			55		0	0	0.014410	0	0
TYW1B	441250	broad.mit.edu	37	7	72281140	72281140	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:72281140G>A	uc011kej.2	-	3	508	c.349C>T	c.(349-351)Cga>Tga	p.R117*	TYW1B_uc011keh.1_Intron|TYW1B_uc011kek.1_Intron	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	117	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TTGCCAAATCGAAAATCAATG	0.448000														132			100		0	0	0.014410	0	0
CCDC76	54482	broad.mit.edu	37	1	100606421	100606421	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:100606421G>A	uc001dsv.3	+	6	534	c.515G>A	c.(514-516)gGt>gAt	p.G172D	CCDC76_uc010ouf.2_Non-coding_Transcript|CCDC76_uc009wea.3_Missense_Mutation_p.G172D	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	172					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		TCTATTTTAGGTAACATTGAA	0.338000														46			17		0	0	0.004990	0	0
CDH4	1002	broad.mit.edu	37	20	60504690	60504690	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60504690C>T	uc002ybn.2	+	12	2117	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	CDH4_uc002ybr.2_Missense_Mutation_p.R640C|CDH4_uc002ybp.2_Missense_Mutation_p.R603C	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	677	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.R677H(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACTCAGCTTGCGCATCCTGTA	0.532000														105			37		0	0	0.019004	0	0
TRADD	8717	broad.mit.edu	37	16	67188655	67188655	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67188655C>T	uc002eri.1	-	4	916	c.836G>A	c.(835-837)cGc>cAc	p.R279H	TRADD_uc002erh.1_Missense_Mutation_p.R219H	NM_003789	NP_003780	Q15628	TRADD_HUMAN	Homo sapiens TNFRSF1A-associated via death domain (TRADD), mRNA.	279	Death.|Interaction with KRT14 and KRT18.				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCGTGGCGCGGCGGCCCTC	0.706000														19			7		0	0	0.004482	0	0
ZZEF1	23140	broad.mit.edu	37	17	3999984	3999984	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:3999984C>T	uc002fxe.3	-	9	1747	c.1683G>A	c.(1681-1683)acG>acA	p.T561T	ZZEF1_uc002fxk.1_Silent_p.T561T	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	561							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCCAGTTTCCGTAAGAAAAC	0.368000														27			89		0	0	0.014410	0	0
TEP1	7011	broad.mit.edu	37	14	20846220	20846220	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:20846220G>A	uc001vxe.3	-	38	5724	c.5684C>T	c.(5683-5685)gCg>gTg	p.A1895V	TEP1_uc010ahk.3_Missense_Mutation_p.A1238V|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.A1787V|TEP1_uc010tlh.1_Missense_Mutation_p.A233V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1895					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGGCAACCCGCATGCAGGAA	0.592000														34			91		0	0	0.014410	0	0
C7orf45	136263	broad.mit.edu	37	7	129856218	129856218	+	Nonsense_Mutation	SNP	C	T	T	rs146470357		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:129856218C>T	uc003vpp.3	+	2	690	c.643C>T	c.(643-645)Cga>Tga	p.R215*		NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA.	215						integral to membrane		p.R215R(2)		endometrium(2)|kidney(1)|lung(6)|ovary(1)	10	Melanoma(18;0.0435)					GCACCATTCCCGACAGAAGCC	0.438000														192			119		0	0	0.014410	0	0
PRR25	388199	broad.mit.edu	37	16	855739	855739	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:855739G>A	uc010uut.2	+	0	297	c.297G>A	c.(295-297)ccG>ccA	p.P99P		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	Homo sapiens proline rich 25 (PRR25), mRNA.	99										large_intestine(1)|lung(1)|skin(1)	3						CAGCGCAGCCGCTCGCAAATG	0.647000														26			19		0	0	0.016522	0	0
REV1	51455	broad.mit.edu	37	2	100022891	100022891	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:100022891C>T	uc002tad.3	-	15	2722	c.2510G>A	c.(2509-2511)cGc>cAc	p.R837H	REV1_uc002tac.3_Missense_Mutation_p.R836H	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	837					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACTGATGGGCGACTGGGACA	0.453000								Direct reversal of damage						41			22		0	0	0.012319	0	0
ABCG4	64137	broad.mit.edu	37	11	119029628	119029628	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:119029628G>A	uc001pvs.3	+	11	1762	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	ABCG4_uc009zar.3_Missense_Mutation_p.V476M	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	476	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CATGGCTGACGTGCCCTTTCA	0.542000														136			47		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179412628	179412628	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179412628C>T	uc021vsy.1	-	287	86246	c.86021G>A	c.(86020-86022)cGt>cAt	p.R28674H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22369H|TTN_uc021vta.1_Missense_Mutation_p.R22302H|TTN_uc021vtb.1_Missense_Mutation_p.R22177H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29601	Fibronectin type-III 108.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGCAGGACGACCACTGAT	0.448000														47			26		0	0	0.021523	0	0
LEMD3	23592	broad.mit.edu	37	12	65637238	65637238	+	Silent	SNP	T	C	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:65637238T>C	uc001ssl.2	+	9	2402	c.2376T>C	c.(2374-2376)ttT>ttC	p.F792F	LEMD3_uc009zqo.2_Silent_p.F791F	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	792	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GGAATATGTTTGATCCCGTTA	0.318000														62			41		0	0	0.010771	0	0
SFRP2	6423	broad.mit.edu	37	4	154709690	154709690	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:154709690C>T	uc003inv.1	-	0	539	c.298G>A	c.(298-300)Gcc>Acc	p.A100T		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	100	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CAGACGGGGGCGAAGAGCGAG	0.647000														220			37		0	0	0.008740	0	0
ALPK3	57538	broad.mit.edu	37	15	85403041	85403041	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:85403041G>A	uc002ble.3	+	7	4773	c.4606G>A	c.(4606-4608)Gtg>Atg	p.V1536M		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1536	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTGGCCATCGTGCAGGCCTC	0.657000														42			36		0	0	0.015359	0	0
GPR35	2859	broad.mit.edu	37	2	241570136	241570136	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241570136G>A	uc010fzi.2	+	5	1732	c.860G>A	c.(859-861)cGc>cAc	p.R287H	GPR35_uc010fzh.2_Missense_Mutation_p.R287H|GPR35_uc021vze.1_Missense_Mutation_p.R256H|GPR35_uc002vzs.2_Missense_Mutation_p.R256H	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	256						integral to plasma membrane	G-protein coupled receptor activity	p.A286A(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACGATCCGTCGCGCCCTGTAC	0.622000														145			124		0	0	0.014410	0	0
QRICH2	84074	broad.mit.edu	37	17	74289330	74289330	+	Missense_Mutation	SNP	C	T	T	rs151086130	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:74289330C>T	uc002jrd.1	-	3	1160	c.980G>A	c.(979-981)cGt>cAt	p.R327H	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	327							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TACACATCCACGCTGATCCAT	0.498000														54			147		0	0	0.014410	0	0
PTPRF	5792	broad.mit.edu	37	1	44056971	44056971	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:44056971C>T	uc001cjr.3	+	8	1618	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	PTPRF_uc001cjs.3_Silent_p.S426S|PTPRF_uc001cju.3_5'UTR|PTPRF_uc009vwt.3_5'UTR|PTPRF_uc001cjv.3_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	426	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCATGCTGAGCGCCAGCACCA	0.726000														6			6		0	0	0.021553	0	0
GRK4	2868	broad.mit.edu	37	4	3037185	3037185	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:3037185G>A	uc003ggn.1	+	12	1797	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	GRK4_uc003ggo.1_Missense_Mutation_p.V448M|GRK4_uc003ggp.1_Missense_Mutation_p.V416M|GRK4_uc003ggq.1_Missense_Mutation_p.V416M	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	448	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGCACCCCGTGTTCAAGGA	0.582000														121			67		0	0	0.014410	0	0
TUBG1	7283	broad.mit.edu	37	17	40766567	40766567	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:40766567G>A	uc002ian.3	+	9	1448	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P		NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	350					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ACTTCATCCCGTGGGGCCCCG	0.652000														25			108		0	0	0.014410	0	0
AK7	122481	broad.mit.edu	37	14	96864584	96864584	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:96864584C>T	uc001yfn.2	+	1	322	c.278C>T	c.(277-279)gCg>gTg	p.A93V	AK7_uc001yfm.1_Missense_Mutation_p.A93V	NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	93					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTGACTTTGCGGTGGAGACG	0.547000														34			50		0	0	0.014410	0	0
HTRA4	203100	broad.mit.edu	37	8	38840023	38840023	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:38840023C>T	uc003xmj.3	+	6	1236	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	374					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	p.A374A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCAGGAAAGGCGTTTTCAAAT	0.428000														46			16		0	0	0.007413	0	0
ZNF202	7753	broad.mit.edu	37	11	123596990	123596990	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:123596990C>T	uc001pzd.1	-	8	2062	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	ZNF202_uc001pzc.1_Silent_p.A330A|ZNF202_uc001pze.1_Silent_p.A554A|ZNF202_uc001pzf.1_Silent_p.A554A	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	554					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCTTCCGGTGCGCCAGGTACC	0.577000														69			61		0	0	0.014410	0	0
RGN	9104	broad.mit.edu	37	X	46951573	46951573	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:46951573G>A	uc004dgz.1	+	6	1777	c.808G>A	c.(808-810)Gag>Aag	p.E270K	RGN_uc004dha.1_Missense_Mutation_p.E270K|RGN_uc010nho.1_Missense_Mutation_p.E217K|RGN_uc010nhp.1_Missense_Mutation_p.E198K	NM_152869	NP_690608	Q15493	RGN_HUMAN	Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNA.	270					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GATGGACCCCGAGGGTCTTTT	0.463000														2			12		0	0	0.010729	0	0
ADCY5	111	broad.mit.edu	37	3	123036943	123036943	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:123036943G>A	uc003egh.2	-	10	2278	c.2278C>T	c.(2278-2280)Cga>Tga	p.R760*	ADCY5_uc021xdd.1_Nonsense_Mutation_p.R410*|ADCY5_uc003egg.2_Nonsense_Mutation_p.R393*|ADCY5_uc003egi.1_Nonsense_Mutation_p.R319*	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	760					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCACCAAATCGGTCGTCTACC	0.602000														11			40		0	0	0.025465	0	0
SNCB	6620	broad.mit.edu	37	5	176056600	176056600	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:176056600G>A	uc010jke.1	-	0	450	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SNCB_uc021yij.1_Missense_Mutation_p.A19V|SNCB_uc003mep.3_Missense_Mutation_p.A19V|SNCB_uc003meq.3_Missense_Mutation_p.A19V|SNCB_uc021yig.1_Missense_Mutation_p.A19V|SNCB_uc021yih.1_Missense_Mutation_p.A19V|SNCB_uc021yii.1_Missense_Mutation_p.A19V|MIR4281_uc021yik.1_5'Flank|EIF4E1B_uc010jkf.1_5'Flank			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	19							calcium ion binding|phospholipase inhibitor activity	p.A19T(1)		breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTTTCTCCGCGGCTGCCAC	0.677000														52			11		0	0	0.013537	0	0
CHRNG	1146	broad.mit.edu	37	2	233405401	233405401	+	Silent	SNP	G	A	A	rs149931943		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:233405401G>A	uc002vsx.1	+	3	351	c.330G>A	c.(328-330)ccG>ccA	p.P110P	CHRNG_uc010fyd.3_Silent_p.P110P|CHRNG_uc010fye.1_Silent_p.P110P	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	110					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		TGTGGCGGCCGGATATCGTGC	0.642000														13			21		0	0	0.021523	0	0
OR10H1	26539	broad.mit.edu	37	19	15918656	15918656	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15918656G>A	uc002nbq.2	-	0	281	c.192C>T	c.(190-192)tgC>tgT	p.C64C		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CGGAGAGGGCGCACAGGAAGA	0.642000														118			53		0	0	0.014410	0	0
OR1D2	4991	broad.mit.edu	37	17	2995776	2995776	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:2995776C>T	uc010vrb.2	-	0	515	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	172					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GTGGATTTTTCGTGACCCACA	0.468000														17			52		0	0	0.014410	0	0
TRPM6	140803	broad.mit.edu	37	9	77390827	77390827	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:77390827G>A	uc004ajl.1	-	23	3613	c.3375C>T	c.(3373-3375)caC>caT	p.H1125H	TRPM6_uc004ajk.1_Silent_p.H1120H|TRPM6_uc022bib.1_Silent_p.H1120H|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.H81H	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1125					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTCTTGGTCGTGAGGAGCTC	0.537000														108			68		0	0	0.014410	0	0
TRPM6	140803	broad.mit.edu	37	9	77376996	77376996	+	Missense_Mutation	SNP	G	A	A	rs141526694	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:77376996G>A	uc004ajl.1	-	25	4829	c.4591C>T	c.(4591-4593)Cgc>Tgc	p.R1531C	TRPM6_uc004ajk.1_Missense_Mutation_p.R1526C|TRPM6_uc022bib.1_Missense_Mutation_p.R1526C|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R487C	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1531					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGTATCTGCGGAGAGGATTG	0.423000														70			41		0	0	0.008740	0	0
ERN1	2081	broad.mit.edu	37	17	62144066	62144066	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:62144066C>T	uc002jdz.2	-	7	920	c.807G>A	c.(805-807)ccG>ccA	p.P269P		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	269					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTGGGGAACGGGTACTTCC	0.592000														5			33		0	0	0.012213	0	0
CHD5	26038	broad.mit.edu	37	1	6202326	6202326	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6202326G>A	uc001amb.2	-	14	2409	c.2298C>T	c.(2296-2298)cgC>cgT	p.R766R	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	766	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTCAAACTCGCGTTCCCAGT	0.607000														106			69		0	0	0.014410	0	0
OTOF	9381	broad.mit.edu	37	2	26700618	26700618	+	Splice_Site	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:26700618C>T	uc002rhk.3	-	19	2342	c.2215_splice	c.e19-1	p.E739_splice	OTOF_uc002rhh.3_Splice_Site|OTOF_uc002rhi.3_Silent_p.Q48Q|OTOF_uc002rhj.3_Splice_Site	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	739					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTTCTTCCTGTGAATCAG	0.607000														42			23		0	0	0.014323	0	0
IFRD2	7866	broad.mit.edu	37	3	50326252	50326252	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50326252G>A	uc003czb.3	-	11	1500	c.1500C>T	c.(1498-1500)cgC>cgT	p.R500R	IFRD2_uc011bdp.2_Silent_p.R398R	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	398							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGCACGGCGCGGAAAGTAG	0.602000														9			26		0	0	0.021523	0	0
HECW1	23072	broad.mit.edu	37	7	43484733	43484733	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:43484733C>T	uc003tid.1	+	10	2567	c.1962C>T	c.(1960-1962)acC>acT	p.T654T	HECW1_uc011kbi.1_Silent_p.T654T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	654					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCCCAGCACCGGGAGCGAGA	0.716000														47			33		0	0	0.013726	0	0
CRB2	286204	broad.mit.edu	37	9	126128637	126128637	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:126128637G>T	uc004bnx.1	+	3	838	c.746G>T	c.(745-747)tGt>tTt	p.C249F	CRB2_uc004bnw.1_Missense_Mutation_p.C249F	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	249	EGF-like 5.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCTGCCTCTGTTGGCCAGGT	0.736000														23			13		4.7546e-09	4.82242e-09	0.028581	1	0
ABCA4	24	broad.mit.edu	37	1	94512531	94512531	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:94512531G>A	uc001dqh.3	-	18	2966	c.2862C>T	c.(2860-2862)taC>taT	p.Y954Y	ABCA4_uc010otn.1_Silent_p.Y880Y	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	954	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTGGTTCTCGTAGAAGGTGA	0.552000														186			123		0	0	0.014410	0	0
LINC00477	144360	broad.mit.edu	37	12	24736338	24736338	+	RNA	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:24736338C>T	uc001rgb.1	-	0		c.765G>A								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		GCACCCTTTGCGAGGGGCACG	0.557000														43			15		0	0	0.024245	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209817	140209817	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140209817C>T	uc003lho.2	+	0	2168	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	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_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.T714M	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	722					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T714M(2)		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)			CTGGTCCTCACGCTACTGCTG	0.706000														128			81		0	0	0.014410	0	0
PLAGL2	5326	broad.mit.edu	37	20	30789887	30789887	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:30789887C>T	uc002wxn.2	-	1	312	c.95G>A	c.(94-96)cGg>cAg	p.R32Q		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	32						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCCGCCTCCCGGCCCCGAGG	0.567000														111			30		0	0	0.010818	0	0
DCLK3	85443	broad.mit.edu	37	3	36779958	36779958	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:36779958C>T	uc003cgi.2	-	1	684	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	65						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTGCAACTTCGCTGCAGCTC	0.612000														45			180		0	0	0.014410	0	0
TLX2	3196	broad.mit.edu	37	2	74742798	74742798	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:74742798C>A	uc002smb.2	+	1	777	c.439C>A	c.(439-441)Cac>Aac	p.H147N	TLX2_uc002sma.2_Missense_Mutation_p.P17Q	NM_016170	NP_057254	O43763	TLX2_HUMAN	Homo sapiens T-cell leukemia homeobox 2 (TLX2), mRNA.	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						CCGCATAGGCCACCCCTACCA	0.652000														116			36		4.14481e-20	4.24428e-20	0.025465	1	0
CSDAP1	440359	broad.mit.edu	37	16	31580425	31580425	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31580425G>A	uc010vfr.1	-	0	421	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C						Homo sapiens cold shock domain protein A pseudogene 1 (CSDAP1), non-coding RNA.																		CCTACACTGCGCAGATATTTC	0.438000														89			19		0	0	0.012319	0	0
CR1	1378	broad.mit.edu	37	1	207793265	207793265	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:207793265G>A	uc001hfy.3	+	34	5897	c.5757G>A	c.(5755-5757)tcG>tcA	p.S1919S	CR1_uc001hfx.3_Silent_p.S2369S|CR1_uc021pij.1_Silent_p.S1919S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1919	Sushi 30.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGAATCTCGAAGGAGTTAG	0.363000														14			6		0	0	0.001984	0	0
GGN	199720	broad.mit.edu	37	19	38876366	38876366	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:38876366G>A	uc002oij.1	-	2	1671	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.S429S	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Homo sapiens gametogenetin (GGN), mRNA.	512	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gtgcgggcgcggacacaggcg	0.746000														26			28		0	0	0.024334	0	0
GPR26	2849	broad.mit.edu	37	10	125426287	125426287	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125426287G>A	uc001lhh.3	+	0	417	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	122					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGCCTCCGCGACGCGGCGCT	0.701000														16			8		0	0	0.003080	0	0
FGB	2244	broad.mit.edu	37	4	155490927	155490927	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:155490927C>T	uc003ioa.4	+	6	1259	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	FGB_uc010ipv.3_Missense_Mutation_p.T348M	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	407	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTTCAGCACGTATGACAGA	0.423000														76			46		0	0	0.014410	0	0
SRBD1	55133	broad.mit.edu	37	2	45812861	45812861	+	Missense_Mutation	SNP	C	T	T	rs145594682		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:45812861C>T	uc002rus.3	-	4	777	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	234					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATTAAAGAGACGAATGATGTT	0.323000														81			31		0	0	0.019004	0	0
DHCR24	1718	broad.mit.edu	37	1	55337128	55337128	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:55337128G>A	uc001cyc.1	-	4	900	c.771C>T	c.(769-771)caC>caT	p.H257H	DHCR24_uc010ooj.1_Silent_p.H119H|DHCR24_uc010ook.1_Silent_p.H216H	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	257					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCTGGGACTCGTGGGTGAACT	0.592000														98			8		0	0	0.004482	0	0
ODZ2	57451	broad.mit.edu	37	5	167689238	167689238	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:167689238C>T	uc010jjd.3	+	28	7721	c.7721C>T	c.(7720-7722)aCg>aTg	p.T2574M	ODZ2_uc003lzr.4_Missense_Mutation_p.T2344M|ODZ2_uc003lzt.4_Missense_Mutation_p.T1947M|ODZ2_uc010jje.3_Missense_Mutation_p.T1838M	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CGGGTGACCACGGGCGTGTCC	0.572000														11			4		0	0	0.009096	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306942	2306942	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:2306942C>T	uc003gex.2	-	7	1445	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	ZFYVE28_uc011bvk.2_Silent_p.A305A|ZFYVE28_uc011bvl.2_Silent_p.A345A|ZFYVE28_uc003gew.2_Silent_p.A261A	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	375					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGCTGCCCTCCGCTCCTGGCC	0.667000														84			48		0	0	0.014410	0	0
SON	6651	broad.mit.edu	37	21	34923567	34923567	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:34923567C>T	uc002yse.1	+	2	2079	c.2030C>T	c.(2029-2031)tCg>tTg	p.S677L	SON_uc002ysb.1_Missense_Mutation_p.S677L|SON_uc002ysc.3_Missense_Mutation_p.S677L|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.S323L|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	677					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	p.P676S(1)		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						GAGGTGCCCTCGACGACAGCG	0.557000														97			27		0	0	0.027356	0	0
NOBOX	135935	broad.mit.edu	37	7	144096159	144096159	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:144096159G>A	uc022aoj.1	-	7	1353	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	451	Pro-rich.				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AAGGAAGATCGGCCCTTCGCA	0.632000														25			11		0	0	0.010729	0	0
ANO7	50636	broad.mit.edu	37	2	242148714	242148714	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242148714C>T	uc002wax.2	+	11	1357	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	418						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCCGGCTGTTCGACCACGGCG	0.647000														12			4		0	0	0.009096	0	0
C9orf152	401546	broad.mit.edu	37	9	112963591	112963591	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:112963591C>T	uc011lwk.2	-	1	911	c.357G>A	c.(355-357)acG>acA	p.T119T	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	119										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTCCAGGTGCGTGTGCCATG	0.587000														142			22		0	0	0.012319	0	0
MLL2	8085	broad.mit.edu	37	12	49445202	49445202	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49445202C>T	uc001rta.4	-	9	2264	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	755	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTCCTCAGGCCGGGGGGACAG	0.687000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				73			42		0	0	0.014410	0	0
CACNA1F	778	broad.mit.edu	37	X	49088267	49088267	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:49088267G>A	uc004dnb.3	-	1	210	c.148C>T	c.(148-150)Cga>Tga	p.R50*	CACNA1F_uc010nip.3_Nonsense_Mutation_p.R50*	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	50					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGGTTTCTTCGCTTAGGGGTC	0.652000														17			6		0	0	0.001984	0	0
FANCB	2187	broad.mit.edu	37	X	14883271	14883271	+	Missense_Mutation	SNP	C	T	T	rs142289802	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:14883271C>T	uc004cwg.1	-	2	630	c.362G>A	c.(361-363)cGt>cAt	p.R121H	FANCB_uc004cwh.1_Missense_Mutation_p.R121H	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	121					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAAACTCAAACGCATTTCAAA	0.313000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					7			20		0	0	0.007413	0	0
PLB1	151056	broad.mit.edu	37	2	28785936	28785936	+	Silent	SNP	C	T	T	rs147698393		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:28785936C>T	uc002rmb.2	+	17	1220	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	PLB1_uc010ezj.2_Silent_p.N403N|PLB1_uc002rmc.3_Silent_p.N80N	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	392	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGACATCAACGTAATTGGAG	0.488000														85			20		0	0	0.008871	0	0
SPG7	6687	broad.mit.edu	37	16	89614459	89614459	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89614459G>A	uc002fnj.3	+	11	1622	c.1601G>A	c.(1600-1602)cGg>cAg	p.R534Q	SPG7_uc002fnk.1_Non-coding_Transcript|SPG7_uc002fnl.3_5'Flank	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	534					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CACGCGGCGCGGGAGGGACAC	0.642000														221			49		0	0	0.014410	0	0
RRNAD1	51093	broad.mit.edu	37	1	156702140	156702140	+	Missense_Mutation	SNP	C	T	T	rs147288369		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:156702140C>T	uc001fpu.3	+	2	938	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	RRNAD1_uc001fpv.3_Missense_Mutation_p.R102W	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.	102						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GGCCTTTACCCGGATGCCTGG	0.592000														89			45		0	0	0.013114	0	0
CHD9	80205	broad.mit.edu	37	16	53190078	53190078	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:53190078C>T	uc002ehb.3	+	0	241	c.77C>T	c.(76-78)gCa>gTa	p.A26V	CHD9_uc002egy.3_Missense_Mutation_p.A26V|CHD9_uc002egz.1_Missense_Mutation_p.A26V|CHD9_uc002ehc.3_Missense_Mutation_p.A26V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	26					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCAGATGATGCATTTGTACAA	0.388000														45			6		0	0	0.021553	0	0
PCLO	27445	broad.mit.edu	37	7	82584436	82584436	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:82584436G>A	uc003uhx.2	-	4	6122	c.5833C>T	c.(5833-5835)Cct>Tct	p.P1945S	PCLO_uc003uhv.2_Missense_Mutation_p.P1945S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1876					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						CCATACAAAGGCTCTTTTTCA	0.373000														67			13		0	0	0.013537	0	0
AK057438	0	broad.mit.edu	37	1	157895827	157895827	+	RNA	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:157895827G>A	uc001frl.1	+	0		c.64G>A								Homo sapiens cDNA FLJ32876 fis, clone TESTI2004073.																		TGGCACTCACGGTCACAGGTG	0.557000														18			11		0	0	0.008291	0	0
DGKK	139189	broad.mit.edu	37	X	50147116	50147116	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:50147116G>A	uc010njr.2	-	4	1053	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	337					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCTGGGTCCGGTGGCTGTAA	0.438000														9			19		0	0	0.008871	0	0
CSTF3	1479	broad.mit.edu	37	11	33120307	33120307	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33120307G>A	uc001muh.3	-	12	1223	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	353					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TACTTCATGCGACTCTAAGGT	0.393000														112			28		0	0	0.006320	0	0
HK2	3099	broad.mit.edu	37	2	75107689	75107689	+	Silent	SNP	C	T	T	rs144796715		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:75107689C>T	uc002snd.3	+	9	3489	c.1563C>T	c.(1561-1563)gaC>gaT	p.D521D		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	521	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTACCCCGGACGGCACAGGTA	0.577000														31			9		0	0	0.008291	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596148	58596148	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58596148C>T	uc010yht.1	-	6	1635	c.1605G>A	c.(1603-1605)ccG>ccA	p.P535P	ZSCAN18_uc002qrj.3_Silent_p.P478P|ZSCAN18_uc010yhs.1_Silent_p.P343P|ZSCAN18_uc002qrh.2_Silent_p.P479P|ZSCAN18_uc002qri.2_Silent_p.P479P|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	479					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCGGGTGGACGGTTGGGGGC	0.726000														12			5		0	0	0.014758	0	0
RIN3	79890	broad.mit.edu	37	14	93118358	93118358	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:93118358G>A	uc001yap.3	+	5	1116	c.964G>A	c.(964-966)Gtc>Atc	p.V322I	RIN3_uc010auk.3_5'UTR|RIN3_uc001yaq.3_Missense_Mutation_p.V247I|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	322	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				tgcccccCACGTCACACCCCA	0.711000														5			12		0	0	0.013537	0	0
SGSM2	9905	broad.mit.edu	37	17	2265510	2265510	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:2265510C>T	uc002fum.4	+	3	581	c.404C>T	c.(403-405)gCg>gTg	p.A135V	SGSM2_uc002fun.4_Missense_Mutation_p.A135V|SGSM2_uc010vqw.2_Missense_Mutation_p.A135V|SGSM2_uc021tnp.1_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	135	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GTACGCACGGCGCTCATCGAG	0.637000														149			46		0	0	0.013114	0	0
BBS1	582	broad.mit.edu	37	11	66297334	66297334	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66297334C>T	uc001oii.1	+	13	1573	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	BBS1_uc001oil.1_Missense_Mutation_p.R333C|BBS1_uc010rpg.1_Missense_Mutation_p.R365C|BBS1_uc001oij.1_Missense_Mutation_p.R462C|BBS1_uc001oik.1_Missense_Mutation_p.R386C|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Missense_Mutation_p.R130C	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	462					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GCTGCGCCTACGTGCTGCCCG	0.677000									Bardet-Biedl syndrome					44			30		0	0	0.009535	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10419252	10419252	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:10419252G>A	uc002mnw.4	-	0	982	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	FDX1L_uc002mnx.1_Intron	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN	Homo sapiens zinc finger, GATA-like protein 1 (ZGLP1), mRNA.	36					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GTGGGGTCACGTTTTCTTGGG	0.617000														23			12		0	0	0.020292	0	0
TRPC3	7222	broad.mit.edu	37	4	122835949	122835949	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:122835949C>T	uc003ieg.2	-	3	1401	c.1327G>A	c.(1327-1329)Gca>Aca	p.A443T	TRPC3_uc010inr.2_Intron|TRPC3_uc003ief.2_Missense_Mutation_p.A370T|TRPC3_uc011cgl.1_Missense_Mutation_p.A107T	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	358					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGCAAGGTGCGATCCAGTAG	0.483000														46			29		0	0	0.007291	0	0
HTR5A	3361	broad.mit.edu	37	7	154862918	154862918	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:154862918C>T	uc003wlu.1	+	0	373	c.309C>T	c.(307-309)tcC>tcT	p.S103S	LOC100128264_uc003wlt.2_Silent_p.P32P|LOC100128264_uc011kvt.1_Silent_p.P32P	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	103						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACGAGCTGTCCGGGCGCCGCT	0.677000														58			41		0	0	0.027894	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447483	3447483	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrY:3447483C>T	uc004fqk.3	+	1	262	c.198C>T	c.(196-198)cgC>cgT	p.R66R	TGIF2LY_uc022ciw.1_Silent_p.R66R	NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, Y-linked (TGIF2LY), mRNA.	66						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						AGATCCTCCGCGACTGGATGT	0.468000														17			72		0	0	0.014410	0	0
PTPRS	5802	broad.mit.edu	37	19	5244109	5244109	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:5244109C>T	uc002mbv.3	-	10	1607	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H	PTPRS_uc002mbu.1_Missense_Mutation_p.R445H|PTPRS_uc010xin.2_Missense_Mutation_p.R445H|PTPRS_uc002mbw.3_Missense_Mutation_p.R445H|PTPRS_uc002mbx.3_Missense_Mutation_p.R449H|PTPRS_uc002mby.3_Missense_Mutation_p.R445H	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	458	Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R458R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCGGTAGCCGCGGATCAGGCC	0.682000														163			34		0	0	0.021022	0	0
SLC30A5	64924	broad.mit.edu	37	5	68413208	68413208	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:68413208G>A	uc003jvh.3	+	10	1731	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	SLC30A5_uc003jvj.3_Non-coding_Transcript|SLC30A5_uc003jvk.3_Missense_Mutation_p.R204Q|SLC30A5_uc003jvi.3_Missense_Mutation_p.R304Q	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	475					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	Golgi apparatus|apical plasma membrane|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AAAGCCACTCGGATTTTCTCC	0.413000														93			65		0	0	0.014410	0	0
TSSK6	83983	broad.mit.edu	37	19	19625703	19625703	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:19625703C>T	uc002nmr.3	-	0	767	c.534G>A	c.(532-534)gcG>gcA	p.A178A	TSSK6_uc002nmq.3_Non-coding_Transcript|YJEFN3_uc021uqu.1_5'Flank|YJEFN3_uc021uqv.1_5'Flank|YJEFN3_uc021uqw.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	Homo sapiens testis-specific serine kinase 6 (TSSK6), mRNA.	178	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CCTCGGGTGACGCGTAGGCGG	0.662000														48			8		0	0	0.004482	0	0
NR2C2	7182	broad.mit.edu	37	3	15065637	15065637	+	Silent	SNP	T	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:15065637T>A	uc003bzj.4	+	6	937	c.720T>A	c.(718-720)ctT>ctA	p.L240L	NR2C2_uc003bzi.3_Silent_p.L259L	NM_003298	NP_003289	P49116	NR2C2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA.	240					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGGTCTTCTTGATCCAGGGA	0.438000														91			31		0	0	0.008361	0	0
POLE	5426	broad.mit.edu	37	12	133254167	133254167	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133254167G>A	uc001uks.1	-	6	761	c.717C>T	c.(715-717)caC>caT	p.H239H	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.H212H	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	239					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CACTCACCACGTGGATCTTCA	0.498000								DNA polymerases (catalytic subunits)						57			26		0	0	0.009535	0	0
CHIA	27159	broad.mit.edu	37	1	111857960	111857960	+	Missense_Mutation	SNP	G	A	A	rs140031055		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:111857960G>A	uc001eas.3	+	5	540	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIA_uc001ear.3_Missense_Mutation_p.R20H|CHIA_uc001eaq.3_Missense_Mutation_p.R20H|CHIA_uc009wgc.3_Missense_Mutation_p.R20H|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_5'UTR|CHIA_uc001eau.3_Intron|CHIA_uc009wgd.3_Intron	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	128					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AAATTCCTGCGCCAGTATGAG	0.547000														165			86		0	0	0.014410	0	0
SFI1	9814	broad.mit.edu	37	22	32000374	32000374	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:32000374C>T	uc003ale.3	+	18	2354	c.1961C>T	c.(1960-1962)gCg>gTg	p.A654V	SFI1_uc003ald.1_Missense_Mutation_p.A630V|SFI1_uc003alf.3_Missense_Mutation_p.A623V|SFI1_uc003alg.3_Missense_Mutation_p.A572V|SFI1_uc011alp.2_Missense_Mutation_p.A572V|SFI1_uc011alq.2_Missense_Mutation_p.A599V|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	654	Interaction with CETN2.				G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGCACAGGGCGCTGCAGGCA	0.602000											OREG0003526	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		7			3		0	0	0.004672	0	0
ASMTL	8623	broad.mit.edu	37	X	1536976	1536976	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:1536976C>T	uc004cpx.2	-	10	1549	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Missense_Mutation_p.R455H|ASMTL_uc011mhe.2_Missense_Mutation_p.R395H|ASMTL_uc011mhf.2_Missense_Mutation_p.R413H	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	471	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGTACTCACGGGCCAGCTC	0.612000														45			15		0	0	0.024245	0	0
DNAH9	1770	broad.mit.edu	37	17	11711063	11711063	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:11711063G>A	uc002gne.3	+	43	8503	c.8435G>A	c.(8434-8436)cGc>cAc	p.R2812H	DNAH9_uc010coo.3_Missense_Mutation_p.R2106H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2812	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATATCAATCGCATCTTGGAG	0.532000														111			8		0	0	0.008291	0	0
PTPRD	5789	broad.mit.edu	37	9	8636794	8636794	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:8636794C>T	uc003zkk.3	-	12	858	c.115G>A	c.(115-117)Gga>Aga	p.G39R	PTPRD_uc003zkp.3_Missense_Mutation_p.G39R|PTPRD_uc003zkq.3_Missense_Mutation_p.G39R|PTPRD_uc003zkr.3_Missense_Mutation_p.G39R|PTPRD_uc003zks.3_Missense_Mutation_p.G39R|PTPRD_uc022bdj.1_Missense_Mutation_p.G39R|PTPRD_uc003zkt.1_Missense_Mutation_p.G39R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	39	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G39*(5)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGGCAACTCCGCCAGAGACC	0.413000										TSP Lung(15;0.13)				96			50		0	0	0.014410	0	0
XPOT	11260	broad.mit.edu	37	12	64811871	64811871	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:64811871G>A	uc001ssb.3	+	4	752	c.246G>A	c.(244-246)acG>acA	p.T82T	XPOT_uc009zqm.2_Intron	NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	82	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTAGGGAGACGCTCATATCAT	0.323000														71			32		0	0	0.021022	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925205	53925205	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:53925205G>A	uc001cvq.1	+	0	134	c.79G>A	c.(79-81)Gcg>Acg	p.A27T		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	27					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.A27A(1)		large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CAAGGGACACGCGGGCAAATG	0.612000														39			20		0	0	0.008871	0	0
FGD3	89846	broad.mit.edu	37	9	95738979	95738979	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:95738979C>T	uc004asz.2	+	2	969	c.441C>T	c.(439-441)gcC>gcT	p.A147A	FGD3_uc004asw.2_Silent_p.A147A|FGD3_uc004asx.2_Silent_p.A147A	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	147					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						ACAAGGATGCCGGCCTGGCCC	0.637000														34			13		0	0	0.016723	0	0
ABCA12	26154	broad.mit.edu	37	2	215809802	215809802	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:215809802C>T	uc002vew.3	-	48	7486	c.7266G>A	c.(7264-7266)ccG>ccA	p.P2422P	ABCA12_uc002vev.3_Silent_p.P2104P|ABCA12_uc010zjn.2_Silent_p.P1349P	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2422	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.P2422P(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTTTCGACTTCGGATCCATGC	0.363000														29			26		0	0	0.008361	0	0
GBF1	8729	broad.mit.edu	37	10	104141973	104141973	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:104141973C>T	uc001kux.2	+	39	5754	c.5460C>T	c.(5458-5460)ggC>ggT	p.G1820G	GBF1_uc001kuy.2_Silent_p.G1816G|GBF1_uc001kuz.2_Silent_p.G1817G	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1820	Pro-rich.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCAGGTGGGCGTGCCACCTA	0.682000														158			50		0	0	0.014410	0	0
ITGA10	8515	broad.mit.edu	37	1	145534934	145534934	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:145534934C>T	uc001eoa.3	+	14	1913	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	ITGA10_uc010oyv.2_Nonsense_Mutation_p.R482*|ITGA10_uc009wiw.3_Nonsense_Mutation_p.R470*|ITGA10_uc010oyw.2_Nonsense_Mutation_p.R558*	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	613					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.G612S(1)|p.R613Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTACTTTGGCCGAAGTGTGGA	0.582000														194			39		0	0	0.025465	0	0
COL6A1	1291	broad.mit.edu	37	21	47423450	47423450	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47423450C>T	uc002zhu.1	+	34	2712	c.2610C>T	c.(2608-2610)gaC>gaT	p.D870D	COL6A1_uc002zhv.1_Silent_p.D201D	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	870	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCGCCCACGACGTGCGGGTGG	0.711000														65			21		0	0	0.012319	0	0
CR1	1378	broad.mit.edu	37	1	207793369	207793369	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:207793369C>T	uc001hfy.3	+	34	6001	c.5861C>T	c.(5860-5862)gCg>gTg	p.A1954V	CR1_uc001hfx.3_Missense_Mutation_p.A2404V|CR1_uc021pij.1_Missense_Mutation_p.A1954V	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1954	Sushi 30.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.W1954*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGTGCCAGGCGGATGACAGA	0.468000											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			24		0	0	0.027356	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347172	89347172	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89347172C>T	uc002fmx.1	-	8	6239	c.5778G>A	c.(5776-5778)ccG>ccA	p.P1926P	ANKRD11_uc002fmy.1_Silent_p.P1926P|ANKRD11_uc002fnc.1_Silent_p.P1926P|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.P1883P	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1926	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCTGGGCTCCGGGGGGATGA	0.711000														101			10		0	0	0.006214	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274307	39274307	+	Silent	SNP	G	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:39274307G>T	uc002hvz.3	-	0	300	c.261C>A	c.(259-261)ccC>ccA	p.P87P		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	87	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.K86R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGCAGCACTGGGGCTTGCAGC	0.657000														88			17		7.45023e-12	7.58052e-12	0.010504	1	0
KCNA1	3736	broad.mit.edu	37	12	5021390	5021390	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:5021390C>T	uc001qnh.3	+	1	1951	c.846C>T	c.(844-846)ggC>ggT	p.G282G	KCNA1_uc021qts.1_Silent_p.G282G	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	282					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCAGAAGGGCGAGCAGGCCA	0.517000														94			54		0	0	0.014410	0	0
APOE	348	broad.mit.edu	37	19	45411904	45411904	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:45411904G>A	uc002pab.3	+	3	434	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_000041	NP_000032	P02649	APOE_HUMAN	Homo sapiens apolipoprotein E (APOE), mRNA.	117	8 X 22 AA approximate tandem repeats.		A -> T (in isoform E3*; dbSNP:rs28931577).		Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|anti-apoptosis|cGMP-mediated signaling|cell death|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of MAP kinase activity|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTGCAGGCGGCGCAGGCCC	0.682000														13			3		0	0	0.004672	0	0
SLC36A1	206358	broad.mit.edu	37	5	150856223	150856223	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:150856223G>A	uc003luc.3	+	8	1112	c.895G>A	c.(895-897)Gtc>Atc	p.V299I	SLC36A1_uc003lub.1_Missense_Mutation_p.V299I|SLC36A1_uc010jhw.1_Missense_Mutation_p.V299I	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	299					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CATGGTCATCGTCACCATCCT	0.517000														82			54		0	0	0.014410	0	0
TSG101	7251	broad.mit.edu	37	11	18503252	18503252	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:18503252G>A	uc001mor.3	-	8	1148	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N		NM_006292	NP_006283	Q99816	TS101_HUMAN	Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.	336	SB.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTTCAATAGCGTTTTCTTCTG	0.388000														58			36		0	0	0.023175	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359683	72359683	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:72359683G>A	uc002sih.1	-	5	1212	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	CYP26B1_uc010yra.1_Silent_p.P387P|CYP26B1_uc010yrb.1_Silent_p.P329P	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	404					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTTTGAACACGGGCGCTGTGT	0.612000														37			23		0	0	0.014323	0	0
RNF31	55072	broad.mit.edu	37	14	24629769	24629769	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24629769G>A	uc001wmn.1	+	20	3455	c.3206G>A	c.(3205-3207)cGc>cAc	p.R1069H	RNF31_uc001wml.1_Missense_Mutation_p.R918H|RNF31_uc010alg.1_Missense_Mutation_p.R828H|RNF31_uc001wmo.1_Missense_Mutation_p.R536H|RNF31_uc001wmp.3_Non-coding_Transcript|RNF31_uc010alh.1_Missense_Mutation_p.R253H|IRF9_uc001wmq.3_5'UTR|IRF9_uc010alj.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	1069					CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R1069fs*>4(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGTATCCCCCGCAGGCGGAAG	0.562000											OREG0022619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			22		0	0	0.016522	0	0
HTRA3	94031	broad.mit.edu	37	4	8293224	8293224	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:8293224G>A	uc003gla.3	+	3	1043	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	HTRA3_uc003gkz.3_Missense_Mutation_p.R279Q	NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	279	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	p.R279W(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						ACTGCCCAGCGGGAGGGCAGG	0.657000														37			38		0	0	0.025465	0	0
TCF7L1	83439	broad.mit.edu	37	2	85531438	85531438	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:85531438C>T	uc002soy.3	+	6	1047	c.822C>T	c.(820-822)ctC>ctT	p.L274L		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	274	Pro-rich.				Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ACCCCGCCCTCGCCATGAACG	0.592000														73			67		0	0	0.014410	0	0
DCTN1	1639	broad.mit.edu	37	2	74595114	74595114	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:74595114G>A	uc002skx.3	-	16	2317	c.1999C>T	c.(1999-2001)Cta>Tta	p.L667L	DCTN1_uc002skv.3_Silent_p.L533L|DCTN1_uc002sku.3_Silent_p.L533L|DCTN1_uc002skw.2_Silent_p.L660L|DCTN1_uc010ffd.3_Silent_p.L647L|DCTN1_uc002sky.3_Silent_p.L630L	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	667					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TAGCGGTGTAGCGTGGCCTGC	0.607000														94			25		0	0	0.024334	0	0
CABIN1	23523	broad.mit.edu	37	22	24479228	24479228	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:24479228G>A	uc002zzi.1	+	19	2923	c.2796G>A	c.(2794-2796)acG>acA	p.T932T	CABIN1_uc021wnc.1_Silent_p.T882T|CABIN1_uc002zzj.1_Silent_p.T882T|CABIN1_uc002zzl.2_Silent_p.T932T	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	932					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAAGACACGCACCCTTACA	0.582000														50			40		0	0	0.025465	0	0
AMOTL1	154810	broad.mit.edu	37	11	94554766	94554766	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:94554766G>A	uc001pfb.3	+	3	1362	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	AMOTL1_uc001pfc.3_Missense_Mutation_p.A348T	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	398						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GACCTCTTCCGCCAGCGGGCC	0.662000														25			18		0	0	0.007413	0	0
MUC2	4583	broad.mit.edu	37	11	1080294	1080294	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1080294C>T	uc001lsx.1	+	7	1041	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	338	TIL.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGTATATGACGACATCGGGG	0.647000														18			5		0	0	0.021553	0	0
DYSF	8291	broad.mit.edu	37	2	71753455	71753455	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:71753455C>T	uc010fen.3	+	12	1396	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	DYSF_uc010fei.3_Missense_Mutation_p.R418W|DYSF_uc010feh.3_Missense_Mutation_p.R387W|DYSF_uc002sig.4_Missense_Mutation_p.R387W|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R418W|DYSF_uc010fee.3_Missense_Mutation_p.R387W|DYSF_uc010fef.3_Missense_Mutation_p.R418W|DYSF_uc002sie.3_Missense_Mutation_p.R387W|DYSF_uc010feo.3_Missense_Mutation_p.R419W|DYSF_uc010fej.3_Missense_Mutation_p.R388W|DYSF_uc010fel.3_Missense_Mutation_p.R388W|DYSF_uc010fem.3_Missense_Mutation_p.R388W|DYSF_uc002sif.3_Missense_Mutation_p.R388W|DYSF_uc010fek.3_Missense_Mutation_p.R419W	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	387	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAGGTCTTCCGGGCCGAGGA	0.672000														246			83		0	0	0.014410	0	0
TNN	63923	broad.mit.edu	37	1	175097740	175097740	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:175097740G>A	uc001gkl.1	+	14	3301	c.3188G>A	c.(3187-3189)cGt>cAt	p.R1063H		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1063	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTGGTGCCCGTTTCCCACAC	0.527000														141			37		0	0	0.027894	0	0
POLE	5426	broad.mit.edu	37	12	133214643	133214643	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133214643G>A	uc001uks.1	-	40	5679	c.5635C>T	c.(5635-5637)Cgt>Tgt	p.R1879C	POLE_uc001ukq.1_Missense_Mutation_p.R89C|POLE_uc001ukr.1_Missense_Mutation_p.R683C|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1879					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTTCCACACGGCGCTTCTTT	0.547000								DNA polymerases (catalytic subunits)						129			21		0	0	0.010504	0	0
MKX	283078	broad.mit.edu	37	10	28023587	28023587	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:28023587G>A	uc001ity.4	-	4	861	c.636C>T	c.(634-636)taC>taT	p.Y212Y	MKX_uc001itx.4_Silent_p.Y212Y	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	212					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GGGGTGCCACGTAGTCCTCAC	0.488000														59			88		0	0	0.014410	0	0
HADHA	3030	broad.mit.edu	37	2	26414365	26414365	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:26414365C>T	uc002rgy.3	-	18	2263	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P	HADHA_uc010yks.2_Silent_p.P624P	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	711					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	CCAGACAAGGCGGGAAGCCAA	0.552000														43			47		0	0	0.013114	0	0
ANKMY1	51281	broad.mit.edu	37	2	241468876	241468876	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241468876G>A	uc010fzd.1	-	4	656	c.531C>T	c.(529-531)ccC>ccT	p.P177P	ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Silent_p.P88P|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	88							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGCTGCCATCGGGGTAGGTCT	0.602000														50			27		0	0	0.027356	0	0
SEMA3A	10371	broad.mit.edu	37	7	83823817	83823817	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:83823817A>G	uc003uhz.3	-	0	401	c.86T>C	c.(85-87)gTg>gCg	p.V29A		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	29					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAGCCTTGGCACATTGTTCTT	0.418000														210			29		0	0	0.027356	0	0
RNF125	54941	broad.mit.edu	37	18	29648291	29648291	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:29648291C>T	uc002kxf.1	+	5	1025	c.643C>T	c.(643-645)Cga>Tga	p.R215*		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	Homo sapiens ring finger protein 125 (RNF125), mRNA.	215					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGCTCTTATCCGAAGAGTCTT	0.338000														26			30		0	0	0.010818	0	0
STK32B	55351	broad.mit.edu	37	4	5418644	5418644	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:5418644G>A	uc003gih.1	+	5	609	c.545G>A	c.(544-546)gGc>gAc	p.G182D	STK32B_uc010ida.1_Missense_Mutation_p.G135D	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	182	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TCCATGGCTGGCACCAAGCCC	0.493000														27			3		0	0	0.004672	0	0
DRD5	1816	broad.mit.edu	37	4	9783925	9783925	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:9783925C>T	uc003gmb.4	+	0	668	c.272C>T	c.(271-273)gCg>gTg	p.A91V		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	91					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.V90M(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTTTTCGTGGCGCTGCTGGTC	0.632000														101			24		0	0	0.016522	0	0
UBR4	23352	broad.mit.edu	37	1	19501461	19501461	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:19501461C>T	uc001bbi.3	-	20	2844	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	UBR4_uc001bbm.1_Missense_Mutation_p.R158Q	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	947					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGAATCAAGTCGGTTCAAATC	0.438000														103			51		0	0	0.014410	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29900012	29900012	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:29900012C>T	uc010vec.2	-	5	1133	c.888G>A	c.(886-888)ccG>ccA	p.P296P	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Silent_p.P226P|SEZ6L2_uc002dur.4_Silent_p.P226P|SEZ6L2_uc002duq.4_Silent_p.P296P|SEZ6L2_uc010ved.2_Silent_p.P252P|SEZ6L2_uc002dus.4_Silent_p.P182P	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	296	Sushi 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCATGGGCCGGCCGGGGAG	0.637000														75			14		0	0	0.028581	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662440	40662440	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40662440C>T	uc011aor.2	+	4	2417	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Missense_Mutation_p.R736C|TNRC6B_uc003ayo.3_Missense_Mutation_p.R540C	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	736					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GGGAGGTGGACGCCAGCCCAA	0.502000														21			9		0	0	0.008291	0	0
PFAS	5198	broad.mit.edu	37	17	8167651	8167651	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:8167651G>A	uc002gkr.3	+	15	2054	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q	PFAS_uc010vuv.2_Missense_Mutation_p.R214Q|PFAS_uc010cnw.1_Missense_Mutation_p.R138Q|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	638					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAGATGCCTCGGAAGGTATGT	0.622000														11			48		0	0	0.014410	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607751	84607751	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:84607751C>T	uc004amn.3	+	3	2413	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	789						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TTGCATGGTCCGGAGACTTCT	0.478000														88			47		0	0	0.014410	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80604490	80604490	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:80604490C>T	uc003khk.4	+	2	985	c.495C>T	c.(493-495)caC>caT	p.H165H	RNU5E-1_uc011cto.1_Intron|ZCCHC9_uc003khi.3_Silent_p.H165H|ZCCHC9_uc003khj.3_Silent_p.H165H	NM_032280	NP_115656	Q8N567	ZCHC9_HUMAN	Homo sapiens zinc finger, CCHC domain containing 9 (ZCCHC9), transcript variant 1, mRNA.	165							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CCACAGAGCACGAAATAACCA	0.448000														54			38		0	0	0.025465	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958664	88958664	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:88958664C>T	uc002fmm.2	-	3	898	c.609G>A	c.(607-609)gtG>gtA	p.V203V	CBFA2T3_uc002fml.2_Silent_p.V117V|CBFA2T3_uc010cif.1_Silent_p.V142V|CBFA2T3_uc002fmn.2_Silent_p.V178V	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	203	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V203V(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCAGGCCCAGCACCAGTGTGC	0.627000			T	RUNX1	AML									63			20		0	0	0.012319	0	0
PRSS50	29122	broad.mit.edu	37	3	46759103	46759103	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:46759103G>A	uc003cqe.1	-	1	613	c.131C>T	c.(130-132)cCg>cTg	p.P44L	PRSS50_uc021wxe.1_Missense_Mutation_p.P44L|PRSS50_uc003cqf.2_Intron	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	44					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.P44L(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGCGCCCCCGGGGCTTCCCC	0.706000														13			36		0	0	0.017118	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043766	71043766	+	Silent	SNP	G	A	A	rs142908853		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:71043766G>A	uc002shf.3	-	3	824	c.747C>T	c.(745-747)aaC>aaT	p.N249N	CLEC4F_uc010yqv.1_Silent_p.N249N	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	249					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGCATTAGCGTTCTTTAAAC	0.418000														88			31		0	0	0.009535	0	0
SBK2	646643	broad.mit.edu	37	19	56041301	56041301	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:56041301C>T	uc010ygc.2	-	3	861	c.846G>A	c.(844-846)gcG>gcA	p.A282A		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	282	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTGGCCCGACGCCTGCCAGA	0.731000														6			4		0	0	0.001984	0	0
ELFN2	114794	broad.mit.edu	37	22	37770333	37770333	+	Silent	SNP	G	A	A	rs144585839		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37770333G>A	uc003asq.4	-	2	2028	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	ELFN2_uc021wph.1_Silent_p.A414A	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	414						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGTAGTACACGGCTCCCAGCA	0.607000														115			56		0	0	0.014410	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600796	147600796	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:147600796C>T	uc003weu.2	+	13	2754	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	746	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.C745C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTAACTGCGACGCGGACTACA	0.537000										HNSCC(39;0.1)				26			15		0	0	0.028581	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652392	234652392	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234652392C>T	uc002vuz.3	-	0	270	c.171G>A	c.(169-171)tcG>tcA	p.S57S	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	57	J.				protein folding		heat shock protein binding|unfolded protein binding										TCTTGGCGTCCGACAACACCT	0.627000														348			43		0	0	0.009718	0	0
DSTYK	25778	broad.mit.edu	37	1	205138721	205138721	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:205138721G>A	uc001hbw.3	-	2	958	c.894C>T	c.(892-894)agC>agT	p.S298S	DSTYK_uc001hbx.3_Silent_p.S298S|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	298						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GTGATCTTTCGCTCTCCATTC	0.483000														75			16		0	0	0.028581	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104999270	104999270	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:104999270T>A	uc004elz.1	+	9	2048	c.1292T>A	c.(1291-1293)cTg>cAg	p.L431Q		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	431	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTGAAGTACTGCCAGATGTC	0.378000														101			30		0	0	0.012213	0	0
BMP2K	55589	broad.mit.edu	37	4	79793824	79793824	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:79793824G>A	uc003hlk.3	+	12	1831	c.1665G>A	c.(1663-1665)ccG>ccA	p.P555P	BMP2K_uc003hlj.3_Silent_p.P555P|BMP2K_uc003hll.3_Silent_p.P19P	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	555	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AACATCAGCCGTCTCAACAAC	0.443000														63			36		0	0	0.017118	0	0
ZBTB38	253461	broad.mit.edu	37	3	141164403	141164403	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:141164403G>A	uc010hup.3	+	1	3223	c.3176G>A	c.(3175-3177)cGc>cAc	p.R1059H	ZBTB38_uc003etw.3_Missense_Mutation_p.R1058H|ZBTB38_uc010hun.3_Missense_Mutation_p.R1055H|ZBTB38_uc010huo.3_Missense_Mutation_p.R1058H|ZBTB38_uc003ety.3_Missense_Mutation_p.R1058H|ZBTB38_uc021xes.1_Missense_Mutation_p.R1058H	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	1058					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAACATGAACGCATCCACCTG	0.478000														33			71		0	0	0.014410	0	0
DHX35	60625	broad.mit.edu	37	20	37659354	37659354	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:37659354C>T	uc002xjh.3	+	19	1921	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C	DHX35_uc010zwa.2_Missense_Mutation_p.R476C|DHX35_uc010zwc.2_Missense_Mutation_p.R600C|DHX35_uc010zwb.2_Missense_Mutation_p.R476C	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	631						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAGGACCATCCGTGATGACCA	0.438000														100			40		0	0	0.007835	0	0
ASUN	55726	broad.mit.edu	37	12	27069110	27069110	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:27069110C>T	uc001rhk.4	-	10	1610	c.1073G>A	c.(1072-1074)cGt>cAt	p.R358H	ASUN_uc001rhj.4_5'UTR|ASUN_uc010sjk.2_Missense_Mutation_p.R257H	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	358					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TAAAACAGAACGACCTGTCAA	0.338000														39			16		0	0	0.004990	0	0
FIBCD1	84929	broad.mit.edu	37	9	133780652	133780652	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:133780652C>T	uc004bzz.3	-	5	1340	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	FIBCD1_uc011mcc.2_Silent_p.P365P	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	365	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCACGGTGAGCGGGTACCCGT	0.657000														46			15		0	0	0.028581	0	0
DIS3L2	129563	broad.mit.edu	37	2	233128091	233128091	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:233128091G>A	uc010fxz.3	+	12	1876	c.1600G>A	c.(1600-1602)Gga>Aga	p.G534R	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	534							RNA binding|exonuclease activity|ribonuclease activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAATCTCCACGGAATTGCCAA	0.522000														121			17		0	0	0.006122	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41102150	41102150	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:41102150C>T	uc001zmt.1	+	3	1067	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	DNAJC17_uc001zms.2_5'Flank|DNAJC17_uc010bbz.2_5'Flank|DNAJC17_uc010bca.2_5'Flank|DNAJC17_uc010bcb.2_5'Flank|ZFYVE19_uc001zmu.1_Missense_Mutation_p.R185C|ZFYVE19_uc001zmv.1_Missense_Mutation_p.R10C	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA.	185							zinc ion binding	p.R185C(6)|p.L184L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCACGACTCCGCCAGGAGAA	0.602000														72			45		0	0	0.011902	0	0
KLRC2	3822	broad.mit.edu	37	12	10584712	10584712	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:10584712T>C	uc001qyk.2	-	4	584	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E	KLRC2_uc001qyh.3_Intron|KLRC2_uc010she.1_Missense_Mutation_p.K193E	NM_002260	NP_002251	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 2 (KLRC2), mRNA.	193	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TACTTATGTTTGAAAGCCAAA	0.313000														51			12		0	0	0.020292	0	0
DEAF1	10522	broad.mit.edu	37	11	654033	654033	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:654033C>T	uc001lqq.1	-	10	2215	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.G433S	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	508					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCCTCCCGGCCGCAGTTAACG	0.622000														53			12		0	0	0.013537	0	0
FMOD	2331	broad.mit.edu	37	1	203311549	203311549	+	Silent	SNP	G	A	A	rs142981560	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:203311549G>A	uc001gzr.3	-	2	1189	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	351					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTCGTTCCCGTCCAGGCGCA	0.642000											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			32		0	0	0.010818	0	0
MYO1F	4542	broad.mit.edu	37	19	8601249	8601249	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8601249G>A	uc002mkg.3	-	18	2068	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	644	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACGCCACCGCGGCCACGTC	0.647000														78			59		0	0	0.014410	0	0
FGD2	221472	broad.mit.edu	37	6	36978766	36978766	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:36978766C>T	uc010jwp.1	+	2	489	c.318C>T	c.(316-318)atC>atT	p.I106I	FGD2_uc011dtu.1_Silent_p.I106I|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	106	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGAAGAAGATCGTCCAGGAGC	0.612000														72			12		0	0	0.020292	0	0
MMEL1	79258	broad.mit.edu	37	1	2541236	2541236	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:2541236C>T	uc001ajy.2	-	4	541	c.327G>A	c.(325-327)acG>acA	p.T109T	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	109					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CACACGGTTCCGTGGTCGGGT	0.602000														86			49		0	0	0.014410	0	0
TIE1	7075	broad.mit.edu	37	1	43779639	43779639	+	Splice_Site	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:43779639G>A	uc001ciu.3	+	14	2586	c.2409_splice	c.e14+1	p.S803_splice	TIE1_uc010oke.2_Splice_Site_p.S758_splice|TIE1_uc009vwq.3_Splice_Site_p.S759_splice|TIE1_uc010okf.1_Silent_p.S448S|TIE1_uc010okg.2_Splice_Site_p.S448_splice	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	803					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGTCAGGCTCGGTCAGTGACC	0.577000														44			27		0	0	0.007291	0	0
TFEC	22797	broad.mit.edu	37	7	115590971	115590971	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:115590971G>A	uc003vhj.2	-	5	725	c.472C>T	c.(472-474)Cga>Tga	p.R158*	TFEC_uc003vhm.2_Nonsense_Mutation_p.R91*|TFEC_uc003vhk.2_Nonsense_Mutation_p.R129*|TFEC_uc003vhl.4_Nonsense_Mutation_p.R129*|TFEC_uc011kmw.2_Nonsense_Mutation_p.R248*	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	158	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCCTTGATTCGGTAATTAATA	0.299000														43			15		0	0	0.024245	0	0
ZNF205	7755	broad.mit.edu	37	16	3169669	3169669	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:3169669C>T	uc002cub.3	+	6	1143	c.1008C>T	c.(1006-1008)taC>taT	p.Y336Y	ZNF205_uc002cua.3_Silent_p.Y336Y	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AGAAGCCCTACGCCTGCACTG	0.682000														89			86		0	0	0.014410	0	0
CNTRL	11064	broad.mit.edu	37	9	123858806	123858806	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123858806C>T	uc004bkx.1	+	3	617	c.586C>T	c.(586-588)Cga>Tga	p.R196*	CNTRL_uc004bkw.2_Nonsense_Mutation_p.R196*	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	196					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAAATCTTTGCGAGTCCTCAA	0.303000														64			40		0	0	0.014410	0	0
USP15	9958	broad.mit.edu	37	12	62715345	62715345	+	Silent	SNP	T	C	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:62715345T>C	uc001src.2	+	4	651	c.576T>C	c.(574-576)aaT>aaC	p.N192N	USP15_uc001srb.2_Silent_p.N192N|USP15_uc001sra.3_Silent_p.N192N	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	192					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AACCACTGAATAAACCAGACA	0.333000														33			24		0	0	0.016522	0	0
ELF3	1999	broad.mit.edu	37	1	201982319	201982319	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201982319G>A	uc001gxg.4	+	5	3890	c.698G>A	c.(697-699)cGt>cAt	p.R233H	ELF3_uc001gxi.4_Missense_Mutation_p.R233H|ELF3_uc001gxh.4_Missense_Mutation_p.R233H	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	233					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R233C(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GATGGTTTTCGTGACTGCAAG	0.597000														58			44		0	0	0.010771	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105813	151105813	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:151105813C>T	uc001ewv.3	-	19	2372	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	SEMA6C_uc001ewu.3_Missense_Mutation_p.R647H|SEMA6C_uc001eww.3_Missense_Mutation_p.R639H	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	647						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	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)			GGAGAGAGGGCGCGGGAGCCC	0.726000														25			11		0	0	0.013537	0	0
MFNG	4242	broad.mit.edu	37	22	37882079	37882079	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37882079G>A	uc003ass.2	-	0	400	c.137C>T	c.(136-138)cCg>cTg	p.P46L	MFNG_uc011anj.2_Missense_Mutation_p.P46L|MFNG_uc011ani.2_5'UTR|CARD10_uc003ast.1_Intron	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	46					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					AGGGGGCCCCGGGTTCGGCTG	0.632000														111			22		0	0	0.021523	0	0
CENPK	64105	broad.mit.edu	37	5	64814369	64814369	+	Missense_Mutation	SNP	C	T	T	rs147863579		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:64814369C>T	uc003jts.3	-	10	955	c.743G>A	c.(742-744)cGt>cAt	p.R248H	CENPK_uc003jtu.3_Missense_Mutation_p.R248H	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	Homo sapiens centromere protein K (CENPK), mRNA.	248					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		p.L247L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATTCCATTACGCAGCAGCAG	0.353000														77			35		0	0	0.017118	0	0
TMEM156	80008	broad.mit.edu	37	4	38990512	38990512	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:38990512C>T	uc003gto.3	-	3	806	c.698G>A	c.(697-699)cGc>cAc	p.R233H	TMEM156_uc010ifj.3_Missense_Mutation_p.R233H	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	233						integral to membrane		p.R233S(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AAGTATTTTGCGGATAGTGAG	0.358000														151			83		0	0	0.014410	0	0
TRPV2	51393	broad.mit.edu	37	17	16336966	16336966	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:16336966G>A	uc002gpy.3	+	12	2467	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	TRPV2_uc002gpz.3_Missense_Mutation_p.V260I	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	690					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GATGCTGACCGTTGGCACTAA	0.592000														145			39		0	0	0.023175	0	0
KIF7	374654	broad.mit.edu	37	15	90176401	90176401	+	Missense_Mutation	SNP	C	T	T	rs149548398		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:90176401C>T	uc002bof.2	-	12	2766	c.2689G>A	c.(2689-2691)Ggc>Agc	p.G897S	KIF7_uc010upw.1_Missense_Mutation_p.G383S	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	897					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACCACAGAGCCGTTGCTGCCA	0.622000														20			6		0	0	0.021553	0	0
FBXL18	80028	broad.mit.edu	37	7	5540761	5540761	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:5540761G>A	uc003soo.2	-	2	1233	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	FBXL18_uc003son.4_Missense_Mutation_p.A380V	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	380									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCAGCAGGACGCCACCAGAGT	0.687000														105			20		0	0	0.012319	0	0
ANK1	286	broad.mit.edu	37	8	41577305	41577305	+	Silent	SNP	G	A	A	rs61758867	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:41577305G>A	uc003xok.3	-	9	1065	c.981C>T	c.(979-981)taC>taT	p.Y327Y	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.Y327Y|ANK1_uc003xoj.3_Silent_p.Y327Y|ANK1_uc003xol.3_Silent_p.Y327Y|ANK1_uc003xom.3_Silent_p.Y360Y	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	327	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCTGCGTCGTATTGCAACA	0.567000														103			51		0	0	0.014410	0	0
ATIC	471	broad.mit.edu	37	2	216209588	216209588	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:216209588C>T	uc002vex.4	+	12	1501	c.1314C>T	c.(1312-1314)aaC>aaT	p.N438N	ATIC_uc010zjo.2_Silent_p.N379N|ATIC_uc002vey.4_Silent_p.N437N	NM_004044	NP_004035	P31939	PUR9_HUMAN	Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA.	438					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	ACGCCAAGAACGGGCAGGTAA	0.488000			T	ALK	ALCL									61			28		0	0	0.007291	0	0
ADRBK2	157	broad.mit.edu	37	22	26118335	26118335	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:26118335C>T	uc003abx.4	+	20	2132	c.1985C>T	c.(1984-1986)cCg>cTg	p.P662L	ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	662							ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.P662A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CGTCGTGCCCCGAAGTTCCTC	0.542000														135			40		0	0	0.023175	0	0
DNAJC11	55735	broad.mit.edu	37	1	6697342	6697342	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6697342G>A	uc001aof.2	-	13	1546	c.1440C>T	c.(1438-1440)agC>agT	p.S480S	DNAJC11_uc001aog.2_Silent_p.S428S|DNAJC11_uc010nzu.1_Silent_p.S390S	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	480					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTCTCGCTCTTCCTGC	0.567000														143			68		0	0	0.014410	0	0
KIF3A	11127	broad.mit.edu	37	5	132051569	132051569	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:132051569G>A	uc011cxf.2	-	7	1163	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	KIF3A_uc003kxn.3_Missense_Mutation_p.R296W|KIF3A_uc003kxo.3_Missense_Mutation_p.R337W|KIF3A_uc003kxp.3_Missense_Mutation_p.R337W	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	337	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	p.R337W(3)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGCATACCGTAATGTACTG	0.328000														22			7		0	0	0.001984	0	0
BZW1	9689	broad.mit.edu	37	2	201683504	201683504	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:201683504G>A	uc010zhg.2	+	8	1017	c.942G>A	c.(940-942)atG>atA	p.M314I	BZW1_uc002uwc.3_Missense_Mutation_p.M282I|BZW1_uc021vus.1_Missense_Mutation_p.M286I	NM_001207068	NP_001193997	Q7L1Q6	BZW1_HUMAN	Homo sapiens basic leucine zipper and W2 domains 1 (BZW1), transcript variant 2, mRNA.	282	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACA	0.373000														33			19		0	0	0.012319	0	0
PXDN	7837	broad.mit.edu	37	2	1684083	1684083	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:1684083C>T	uc002qxa.3	-	6	676	c.612G>A	c.(610-612)gcG>gcA	p.A204A	PXDN_uc002qxb.1_Silent_p.A204A|PXDN_uc002qxc.1_Silent_p.A21A	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	204	LRRCT.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCAGCAAATCCGCCAACCACA	0.587000														19			22		0	0	0.012319	0	0
IBA57	200205	broad.mit.edu	37	1	228362946	228362946	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:228362946G>A	uc001hsl.4	+	2	892	c.803G>A	c.(802-804)cGc>cAc	p.R268H	IBA57_uc010pvw.2_Missense_Mutation_p.R75H	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA.	268					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CTGACGGCCCGCACCCACCAC	0.647000														168			24		0	0	0.024334	0	0
PRX	57716	broad.mit.edu	37	19	40913824	40913824	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:40913824G>A	uc002onr.3	-	3	285	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	PRX_uc002ons.3_Missense_Mutation_p.R6W	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	6					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCGGCACTCCGGCTCCTGGCC	0.627000														62			23		0	0	0.021523	0	0
NINJ2	4815	broad.mit.edu	37	12	674455	674455	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:674455G>A	uc001qil.3	-	2	604	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	Homo sapiens ninjurin 2 (NINJ2), mRNA.	125					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			TATGTGCCCCGAAGGCTGTAA	0.537000														91			9		0	0	0.004482	0	0
DNMT3B	1789	broad.mit.edu	37	20	31368261	31368261	+	Silent	SNP	G	A	A	rs138805251		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:31368261G>A	uc002wyc.3	+	1	453	c.132G>A	c.(130-132)ccG>ccA	p.P44P	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.P44P|DNMT3B_uc002wye.3_Silent_p.P44P|DNMT3B_uc010ztz.2_Silent_p.P44P|DNMT3B_uc010zua.2_Silent_p.P44P|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.P56P	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	44	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	p.P44L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCGCACCCCGGAGATCAGAG	0.652000														39			13		0	0	0.024245	0	0
ZNF835	90485	broad.mit.edu	37	19	57176021	57176021	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:57176021C>T	uc010ygn.2	-	1	773	c.546G>A	c.(544-546)gcG>gcA	p.A182A		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCCAGTGGGACGCCAGGTACG	0.716000														21			8		0	0	0.004482	0	0
ARAP3	64411	broad.mit.edu	37	5	141035270	141035270	+	Missense_Mutation	SNP	C	T	T	rs138515824	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:141035270C>T	uc003llm.3	-	30	4106	c.4028G>A	c.(4027-4029)cGt>cAt	p.R1343H	ARAP3_uc003lll.3_Missense_Mutation_p.R294H|ARAP3_uc011dbe.2_Missense_Mutation_p.R1005H|ARAP3_uc003lln.3_Missense_Mutation_p.R1174H	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1343					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AAACTTCTGACGGGCAAGGTC	0.597000														70			41		0	0	0.023175	0	0
PLEC	5339	broad.mit.edu	37	8	144999421	144999421	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144999421C>T	uc003zaf.1	-	30	5257	c.5087G>A	c.(5086-5088)cGa>cAa	p.R1696Q	PLEC_uc003zab.1_Missense_Mutation_p.R1559Q|PLEC_uc003zac.1_Missense_Mutation_p.R1563Q|PLEC_uc003zad.2_Missense_Mutation_p.R1559Q|PLEC_uc003zae.1_Missense_Mutation_p.R1527Q|PLEC_uc003zag.1_Missense_Mutation_p.R1537Q|PLEC_uc003zah.2_Missense_Mutation_p.R1545Q|PLEC_uc003zaj.2_Missense_Mutation_p.R1586Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1696	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCCGCGCTCGCTCCACCTC	0.741000														15			4		0	0	0.009096	0	0
ZFP41	286128	broad.mit.edu	37	8	144332534	144332534	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144332534C>T	uc003yxw.3	+	1	879	c.521C>T	c.(520-522)aCg>aTg	p.T174M	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Missense_Mutation_p.T174M	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	174					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TACGAATGCACGCACTGTGGG	0.592000														112			42		0	0	0.007835	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123215886	123215886	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123215886C>T	uc004bkf.3	-	20	2822	c.2641G>A	c.(2641-2643)Gac>Aac	p.D881N	CDK5RAP2_uc004bke.3_Missense_Mutation_p.D166N|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.D881N|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.D146N|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.D146N|CDK5RAP2_uc011lya.2_Missense_Mutation_p.D146N|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.3_Missense_Mutation_p.D648N	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	881					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCAGCAGGTCGCCCTCCGTG	0.552000														158			101		0	0	0.014410	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460877	66460877	+	Missense_Mutation	SNP	G	A	A	rs150801133	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66460877G>A	uc001ojd.3	-	22	4706	c.4634C>T	c.(4633-4635)gCg>gTg	p.A1545V		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1545					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTCAGGTCCGCGATCCGGGG	0.627000														35			9		0	0	0.006214	0	0
TMEM14C	51522	broad.mit.edu	37	6	10725225	10725225	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:10725225G>A	uc010joq.2	+	2	423	c.52G>A	c.(52-54)Gca>Aca	p.A18T	TMEM14C_uc003mzh.3_Missense_Mutation_p.A18T|TMEM14C_uc021ylj.1_Missense_Mutation_p.A18T	NM_016462	NP_057546	Q9P0S9	TM14C_HUMAN	Homo sapiens transmembrane protein 14C (TMEM14C), transcript variant 2, mRNA.	18					heme biosynthetic process	integral to membrane|mitochondrial membrane				large_intestine(2)|lung(3)	5	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			CTTTGGCTACGCAGCACTGGT	0.448000														278			87		0	0	0.014410	0	0
KHNYN	23351	broad.mit.edu	37	14	24901644	24901644	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24901644G>A	uc010tpc.2	+	2	1316	c.1300G>A	c.(1300-1302)Gca>Aca	p.A434T	KHNYN_uc001wph.4_Missense_Mutation_p.A393T|KHNYN_uc010alw.3_Missense_Mutation_p.A393T|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	393										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCAGGGCATGGCACGGGGTCG	0.667000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			11		0	0	0.013537	0	0
AP5Z1	9907	broad.mit.edu	37	7	4824642	4824642	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:4824642C>T	uc003sne.3	+	6	979	c.894C>T	c.(892-894)ttC>ttT	p.F298F	AP5Z1_uc010ksp.3_Non-coding_Transcript	NM_014855	NP_055670	O43299	K0415_HUMAN	Homo sapiens KIAA0415 (KIAA0415), mRNA.	298					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										AGGTGGCCTTCGAGTACTGCC	0.682000														63			44		0	0	0.014410	0	0
LRBA	987	broad.mit.edu	37	4	151850067	151850067	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:151850067G>A	uc010ipj.3	-	2	611	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	LRBA_uc003ilu.4_Missense_Mutation_p.R123W|LRBA_uc010ipk.1_Missense_Mutation_p.R42W	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	123						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGAAGATTCCGTATGCTTTTC	0.388000														144			33		0	0	0.015359	0	0
ST5	6764	broad.mit.edu	37	11	8752647	8752647	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:8752647G>A	uc001mgt.3	-	2	376	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	ST5_uc009yfr.3_Intron|ST5_uc001mgu.3_Intron|ST5_uc001mgv.3_Missense_Mutation_p.R64W|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.R64W	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	64	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGGAGCACCCGGGAGCTGGAG	0.612000														61			6		0	0	0.021553	0	0
LAMA5	3911	broad.mit.edu	37	20	60905854	60905854	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60905854C>T	uc002ycq.3	-	29	3864	c.3797G>A	c.(3796-3798)cGg>cAg	p.R1266Q	LAMA5_uc021wfw.1_Missense_Mutation_p.R1266Q	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1266	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGGGGGGCCGAGGTCGGGG	0.697000														7			3		0	0	0.009096	0	0
GPER	2852	broad.mit.edu	37	7	1132151	1132151	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:1132151G>A	uc010ksd.1	+	1	1176	c.787G>A	c.(787-789)Gcg>Acg	p.A263T	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A263T|GPER_uc003ska.1_Missense_Mutation_p.A263T|GPER_uc003skb.2_Missense_Mutation_p.A263T|GPER_uc021zyo.1_Missense_Mutation_p.A263T	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	Homo sapiens G protein-coupled estrogen receptor 1 (GPER), transcript variant 4, mRNA.	263						Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CATGATCCTCGCGGTGGTGCT	0.687000														94			49		0	0	0.014410	0	0
HDAC4	9759	broad.mit.edu	37	2	239975226	239975226	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:239975226C>T	uc002vyk.4	-	25	3937	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	HDAC4_uc010fyy.3_Missense_Mutation_p.E1006K	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	1049	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCTTCGTTCTCGCAAGTCTGA	0.662000														63			53		0	0	0.014410	0	0
PTGS2	5743	broad.mit.edu	37	1	186645692	186645692	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:186645692G>A	uc001gsb.3	-	6	1014	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	PTGS2_uc009wyo.3_Missense_Mutation_p.R140W	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	293					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.R293L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	TTGTGTTCCCGCAGCCAGATT	0.507000														95			70		0	0	0.014410	0	0
IL21R	50615	broad.mit.edu	37	16	27445714	27445714	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:27445714G>A	uc002dor.2	+	3	710	c.162G>A	c.(160-162)acG>acA	p.T54T	IL21R_uc002doq.2_Silent_p.T32T|IL21R_uc002dos.2_Silent_p.T32T	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	32					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACCTCCAGACGGTCATCTGCA	0.632000			T	BCL6	NHL									43			46		0	0	0.014410	0	0
ZNF687	57592	broad.mit.edu	37	1	151261051	151261051	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:151261051C>T	uc001exq.3	+	2	2261	c.2163C>T	c.(2161-2163)agC>agT	p.S721S	ZNF687_uc009wmo.3_Silent_p.S721S|ZNF687_uc009wmp.3_Silent_p.S721S	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGCTTCAGCGCCCACCAGC	0.572000														116			52		0	0	0.014410	0	0
CHRNE	1145	broad.mit.edu	37	17	4804399	4804399	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:4804399C>T	uc002fzk.1	-	6	699	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	Homo sapiens cholinergic receptor, nicotinic, epsilon (CHRNE), mRNA.	230					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V230F(2)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GAGTAGATGACGTCAGTCTCC	0.652000														62			114		0	0	0.014410	0	0
DHX38	9785	broad.mit.edu	37	16	72133711	72133711	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:72133711C>T	uc002fcb.3	+	7	1396	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	347					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCGAGGACTACGTGAGGAGGC	0.577000											OREG0023926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			31		0	0	0.010818	0	0
ZNF559	84527	broad.mit.edu	37	19	9453655	9453655	+	Nonsense_Mutation	SNP	C	T	T	rs147456906	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:9453655C>T	uc002mle.4	+	5	2127	c.1720C>T	c.(1720-1722)Cga>Tga	p.R574*	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Nonsense_Mutation_p.R468*|ZNF559_uc010xkn.2_Nonsense_Mutation_p.R502*|ZNF559_uc021uok.1_Nonsense_Mutation_p.R510*|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATATCTTATTCGACATCTAAG	0.438000														90			35		0	0	0.019004	0	0
EPB41L1	2036	broad.mit.edu	37	20	34770234	34770234	+	Silent	SNP	G	A	A	rs139137163	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:34770234G>A	uc002xfb.3	+	5	702	c.531G>A	c.(529-531)ccG>ccA	p.P177P	EPB41L1_uc002xeu.3_Silent_p.P115P|EPB41L1_uc010zvo.1_Silent_p.P177P|EPB41L1_uc002xev.3_Silent_p.P177P|EPB41L1_uc002xew.3_Silent_p.P80P|EPB41L1_uc002xex.3_Silent_p.P146P|EPB41L1_uc002xey.3_Silent_p.P177P|EPB41L1_uc002xez.3_Silent_p.P115P	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	177	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGTTCTACCCGCCTGATCCTG	0.582000														69			38		0	0	0.013114	0	0
NDE1	54820	broad.mit.edu	37	16	15758701	15758701	+	Silent	SNP	G	A	A	rs143820142		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:15758701G>A	uc002ddt.1	+	0	109	c.66G>A	c.(64-66)gcG>gcA	p.A22A	NDE1_uc010uzy.2_Silent_p.A22A|NDE1_uc002dds.3_Silent_p.A22A	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog 1 (A. nidulans) (NDE1), transcript variant 2, mRNA.	22	Self-association (By similarity).				G2/M transition of mitotic cell cycle|cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAGATCTGGCGATGACCTACA	0.473000														80			90		0	0	0.014410	0	0
HSPG2	3339	broad.mit.edu	37	1	22168798	22168798	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:22168798C>T	uc009vqd.3	-	67	9029	c.8989G>A	c.(8989-8991)Ggc>Agc	p.G2997S	HSPG2_uc001bfj.3_Missense_Mutation_p.G2996S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2996	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGCCTGGGCCGCTGGCTGCA	0.642000														63			12		0	0	0.013537	0	0
FBXW12	285231	broad.mit.edu	37	3	48422276	48422276	+	Missense_Mutation	SNP	G	A	A	rs144607752	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:48422276G>A	uc003csr.3	+	7	1045	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	FBXW12_uc010hjv.3_Missense_Mutation_p.A268T|FBXW12_uc003css.3_Missense_Mutation_p.A217T|FBXW12_uc010hjw.3_Missense_Mutation_p.A186T	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	287								p.S286S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGTGCCAGCGCCTGCTGGAC	0.443000														35			116		0	0	0.014410	0	0
CACNA1I	8911	broad.mit.edu	37	22	40043868	40043868	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40043868G>A	uc003ayc.3	+	8	1504	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R	CACNA1I_uc003ayd.3_Intron|CACNA1I_uc003aye.3_Missense_Mutation_p.G417R|CACNA1I_uc003ayf.3_Intron	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	502					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	gaGACATCTCGGAAGCCGGCA	0.562000														66			29		0	0	0.015359	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674814	71674814	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:71674814G>A	uc002fau.3	+	2	1180	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	376	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CATGTACGGCGCCAGCGTGGT	0.597000														38			35		0	0	0.013726	0	0
TJP1	7082	broad.mit.edu	37	15	30003072	30003072	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:30003072C>T	uc001zcr.3	-	23	4810	c.4335G>A	c.(4333-4335)gcG>gcA	p.A1445A	TJP1_uc010azl.3_Silent_p.A1433A|TJP1_uc001zcq.3_Silent_p.A1369A|TJP1_uc001zcs.3_Silent_p.A1365A	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1445					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTGGAGAGACGCGCTGGTGA	0.498000														256			56		0	0	0.014410	0	0
SMYD1	150572	broad.mit.edu	37	2	88387390	88387390	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:88387390G>A	uc002ssr.3	+	2	409	c.324G>A	c.(322-324)gcG>gcA	p.A108A	SMYD1_uc002ssq.2_Intron	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.A107V(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGCTGGCGGCGCGCATCATGT	0.607000														18			14		0	0	0.016723	0	0
DGKD	8527	broad.mit.edu	37	2	234371341	234371341	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234371341G>A	uc002vui.1	+	25	3158	c.3146G>A	c.(3145-3147)cGc>cAc	p.R1049H	DGKD_uc002vuj.1_Missense_Mutation_p.R1005H|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	1049					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGAGCTCTGCGCAGTGAGACG	0.597000														249			38		0	0	0.009718	0	0
CCDC41	51134	broad.mit.edu	37	12	94769688	94769688	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:94769688G>A	uc001tdd.3	-	7	1493	c.907C>T	c.(907-909)Cga>Tga	p.R303*	CCDC41_uc001tde.3_Nonsense_Mutation_p.R303*|CCDC41_uc009zsw.1_Non-coding_Transcript|CCDC41_uc001tdf.3_Nonsense_Mutation_p.R303*	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	295										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTTATTTCTCGTTCAGCTTTA	0.259000														18			5		0	0	0.021553	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123253597	123253597	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123253597G>A	uc004bkf.3	-	12	1651	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D	CDK5RAP2_uc004bkg.3_Silent_p.D490D|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Silent_p.D490D|CDK5RAP2_uc004bki.3_Silent_p.D289D	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	490					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GAAGCAACACGTCCTTCTGAT	0.294000														30			17		0	0	0.010504	0	0
PRSS55	203074	broad.mit.edu	37	8	10383214	10383214	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:10383214G>A	uc003wta.3	+	0	159	c.119G>A	c.(118-120)cGc>cAc	p.R40H	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.R40H	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	40					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGAGCCCACCGCCCTCAGCCC	0.662000														23			13		0	0	0.013537	0	0
SQRDL	58472	broad.mit.edu	37	15	45974846	45974846	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:45974846C>T	uc001zvu.3	+	7	1228	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	SQRDL_uc001zvv.3_Silent_p.T345T	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	345							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CGTCAAAGACCGCTGCTGCAG	0.478000														76			51		0	0	0.014410	0	0
DNAH1	25981	broad.mit.edu	37	3	52407044	52407044	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:52407044C>T	uc011bef.2	+	43	7221	c.6960C>T	c.(6958-6960)ggC>ggT	p.G2320G		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2320	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGACCACGGCGGCTGGTACG	0.612000														44			10		0	0	0.006214	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566505	129566505	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:129566505G>A	uc009zyl.1	-	6	2050	c.1722C>T	c.(1720-1722)caC>caT	p.H574H	TMEM132D_uc001uia.2_Silent_p.H112H	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	574						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCACCATGGCGTGCTGGTACT	0.657000														79			46		0	0	0.009718	0	0
SLC9C2	284525	broad.mit.edu	37	1	173551052	173551052	+	Missense_Mutation	SNP	C	T	T	rs4916373		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:173551052C>T	uc001giz.2	-	6	1159	c.736G>A	c.(736-738)Gtt>Att	p.V246I	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	246					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTGCTAAAAACGTCAGCCAAT	0.323000														30			26		0	0	0.027356	0	0
TP53	7157	broad.mit.edu	37	17	7578463	7578463	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7578463C>T	uc002gim.2	-	4	661	c.467G>A	c.(466-468)cGc>cAc	p.R156H	TP53_uc002gig.1_Missense_Mutation_p.R156H|TP53_uc002gih.3_Missense_Mutation_p.R156H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R24H|TP53_uc010cnf.1_Missense_Mutation_p.R24H|TP53_uc002gii.1_Missense_Mutation_p.R24H|TP53_uc010cni.1_Missense_Mutation_p.R156H|TP53_uc010cnh.1_Missense_Mutation_p.R156H|TP53_uc002gij.2_Missense_Mutation_p.R156H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R63H|TP53_uc002gio.2_Missense_Mutation_p.R24H|TP53_uc010vug.2_Missense_Mutation_p.R117H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (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.R156P(48)|p.T155N(20)|p.R156H(20)|p.T155P(16)|p.R156fs*14(12)|p.T155I(12)|p.0?(8)|p.T155A(8)|p.R156L(6)|p.?(5)|p.T155T(5)|p.R156_I162delRVRAMAI(4)|p.T155fs*23(4)|p.R156fs*25(4)|p.R156S(3)|p.R156R(3)|p.R156G(3)|p.T155_R156delTR(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.R156del(2)|p.T155S(2)|p.R156_R158delRVR(2)|p.R156fs*12(2)|p.R156fs*18(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.R156_V157del(2)|p.T155_A161delTRVRAMA(2)|p.G154_R156delGTR(2)|p.R156C(2)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.R156fs*?(1)|p.G154fs*22(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*20(1)|p.R156_V157insV(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)		GGCGCGGACGCGGGTGCCGGG	0.612000		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)				24			72		0	0	0.014410	0	0
MST4	51765	broad.mit.edu	37	X	131208175	131208175	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:131208175C>T	uc004ewk.1	+	11	1540	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	MST4_uc004ewl.1_Silent_p.D336D|MST4_uc011mux.1_Silent_p.D435D|MST4_uc010nrj.1_Silent_p.D389D|MST4_uc004ewm.1_Silent_p.D351D	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	413					cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.D413D(2)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GTTCAGCAGACGAATCCCCCT	0.363000														21			124		0	0	0.014410	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:32890622T>G	uc002edh.1	-	4	440	c.264A>C	c.(262-264)aaA>aaC	p.K88N	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CGTTGGTGTTTTTGTAGACCA	0.617000														30			3		0	0	0.004672	0	0
MCCC1	56922	broad.mit.edu	37	3	182740306	182740306	+	Missense_Mutation	SNP	A	G	G	rs143892743		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:182740306A>G	uc003fle.3	-	15	1905	c.1768T>C	c.(1768-1770)Tac>Cac	p.Y590H	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Missense_Mutation_p.Y473H|MCCC1_uc003flg.3_Missense_Mutation_p.Y481H|MCCC1_uc011bqp.1_Missense_Mutation_p.Y543H	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	590					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCCTCGCTGTAAAGATTACCA	0.313000														57			15		0	0	0.024245	0	0
GPR20	2843	broad.mit.edu	37	8	142367203	142367203	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:142367203G>A	uc022bby.1	-	0	821	c.821C>T	c.(820-822)aCg>aTg	p.T274M	GPR20_uc003ywf.3_Missense_Mutation_p.T274M	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	274						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CACGAGGCTCGTGTGGTGTGG	0.637000														45			11		0	0	0.013537	0	0
ACSL1	2180	broad.mit.edu	37	4	185724474	185724474	+	Splice_Site	SNP	C	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:185724474C>A	uc003iww.2	-	2	489	c.195_splice	c.e2+1	p.A65_splice	ACSL1_uc011ckm.1_Splice_Site|ACSL1_uc003iwt.1_Splice_Site_p.A65_splice|ACSL1_uc003iwu.1_Splice_Site_p.A65_splice|ACSL1_uc011ckn.1_Splice_Site_p.A65_splice	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	65					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCCACTCACCGCCACTTCCA	0.557000														15			12		7.03913e-09	7.12823e-09	0.013537	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178566910	178566910	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:178566910G>A	uc003mjw.3	-	10	1858	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	586	TSP type-1 1.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCACACTGGCGGGTCCTGAAC	0.642000														116			107		0	0	0.014410	0	0
KDM1A	23028	broad.mit.edu	37	1	23405541	23405541	+	Silent	SNP	C	T	T	rs145299191		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:23405541C>T	uc001bgi.2	+	14	2003	c.1854C>T	c.(1852-1854)tgC>tgT	p.C618C	KDM1A_uc001bgj.2_Silent_p.C642C	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	618	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTTATAAATGCGACGCAGTTC	0.507000														204			38		0	0	0.025465	0	0
LRP2	4036	broad.mit.edu	37	2	170060607	170060607	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170060607G>A	uc002ues.3	-	41	8103	c.7890C>T	c.(7888-7890)acC>acT	p.T2630T		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2630					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCAAATTTGTGGTCATTGCAA	0.448000														294			69		0	0	0.014410	0	0
PARP10	84875	broad.mit.edu	37	8	145058234	145058234	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:145058234G>A	uc003zal.4	-	6	1827	c.1719C>T	c.(1717-1719)aaC>aaT	p.N573N	PARP10_uc003zak.4_Silent_p.N279N|PARP10_uc011lku.2_Silent_p.N585N|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Silent_p.N573N	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	573						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTGTGGGCGTTGCCAGGGA	0.662000														37			13		0	0	0.020292	0	0
LRP6	4040	broad.mit.edu	37	12	12302045	12302045	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:12302045C>T	uc001rah.4	-	13	3179	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.E1013K	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1013	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTTGTATTTCCAGGTTCTGA	0.438000														216			147		0	0	0.014410	0	0
RAD54L	8438	broad.mit.edu	37	1	46739410	46739410	+	Missense_Mutation	SNP	G	A	A	rs144207599	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:46739410G>A	uc001cpl.2	+	13	2312	c.1601G>A	c.(1600-1602)cGt>cAt	p.R534H	RAD54L_uc009vye.2_Missense_Mutation_p.R534H	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	534	Helicase C-terminal.		R -> C (in dbSNP:rs28363240).		meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AAGCTGTGCCGTGCCCGAAGG	0.512000								Direct reversal of damage;Homologous recombination						13			7		0	0	0.001984	0	0
CHD2	1106	broad.mit.edu	37	15	93489391	93489391	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:93489391T>C	uc002bsp.3	+	11	1897	c.1322T>C	c.(1321-1323)aTt>aCt	p.I441T	CHD2_uc002bsn.3_Missense_Mutation_p.I441T|CHD2_uc002bso.1_Missense_Mutation_p.I441T|CHD2_uc010urb.2_Missense_Mutation_p.I454T|CHD2_uc010bof.1_Non-coding_Transcript	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	441	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CAGAATTGCATTGACAGCTTC	0.418000														67			49		0	0	0.014410	0	0
CRTAC1	55118	broad.mit.edu	37	10	99696063	99696063	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:99696063G>A	uc001kou.2	-	2	641	c.285C>T	c.(283-285)atC>atT	p.I95I	CRTAC1_uc001kov.3_Silent_p.I95I|CRTAC1_uc001kot.2_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	95						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCGACCGCGATGTTCACCA	0.667000														40			31		0	0	0.013726	0	0
TMCO6	55374	broad.mit.edu	37	5	140021557	140021557	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140021557G>A	uc003lgm.3	+	3	518	c.417G>A	c.(415-417)gaG>gaA	p.E139E	TMCO6_uc011czj.1_3'UTR|TMCO6_uc003lgl.3_Silent_p.E139E|TMCO6_uc010jft.3_Intron|TMCO6_uc003lgn.3_Silent_p.E30E|TMCO6_uc003lgo.3_5'Flank	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	Homo sapiens transmembrane and coiled-coil domains 6 (TMCO6), mRNA.	139					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACTCCGAGCAGTCCACTG	0.617000														167			36		0	0	0.013726	0	0
TYMP	1890	broad.mit.edu	37	22	50967656	50967656	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:50967656C>T	uc003bme.4	-	2	518	c.326G>A	c.(325-327)cGc>cAc	p.R109H	SCO2_uc021wsa.1_5'Flank|TYMP_uc003bmb.4_Missense_Mutation_p.R109H|TYMP_uc003bmc.4_Missense_Mutation_p.R109H|TYMP_uc010hbd.3_Missense_Mutation_p.R109H|TYMP_uc003bmd.4_Missense_Mutation_p.R109H|TYMP_uc011arz.1_Missense_Mutation_p.R109H	NM_001953	NP_001944	P19971	TYPH_HUMAN	Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA.	109					DNA replication|angiogenesis|cell differentiation|chemotaxis|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	AAGCTGCTGGCGCCAGGCCTC	0.642000														87			38		0	0	0.021022	0	0
CELSR1	9620	broad.mit.edu	37	22	46776725	46776725	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:46776725G>A	uc003bhw.1	-	21	7216	c.7216C>T	c.(7216-7218)Cga>Tga	p.R2406*	CELSR1_uc011arc.1_Nonsense_Mutation_p.R727*	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2406					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCTTGGTTCGCTCCTCCACC	0.667000														102			23		0	0	0.014323	0	0
PRKG2	5593	broad.mit.edu	37	4	82026998	82026998	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:82026998G>A	uc003hmh.2	-	14	2045	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	PRKG2_uc011ccf.1_Nonsense_Mutation_p.R258*|PRKG2_uc011ccg.1_Nonsense_Mutation_p.R258*|PRKG2_uc011cch.1_Nonsense_Mutation_p.R649*	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	678	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCCTCAGGTCGTCGTGTTATC	0.423000														121			28		0	0	0.008361	0	0
NDRG2	57447	broad.mit.edu	37	14	21486616	21486616	+	Splice_Site	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:21486616C>T	uc001vyy.3	-	14	1011	c.861_splice	c.e14+1	p.K287_splice	NDRG2_uc010tll.2_Splice_Site_p.K283_splice|NDRG2_uc001vyt.3_Splice_Site_p.K200_splice|NDRG2_uc001vyu.3_Splice_Site_p.K244_splice|NDRG2_uc001vyv.3_Splice_Site_p.K273_splice|NDRG2_uc001vyw.3_Splice_Site_p.K273_splice|NDRG2_uc001vzb.3_Splice_Site_p.K227_splice|NDRG2_uc001vyx.3_Splice_Site_p.K287_splice|NDRG2_uc001vza.3_Splice_Site_p.K273_splice|NDRG2_uc001vyz.3_Splice_Site_p.K273_splice|NDRG2_uc001vzc.3_Intron|NDRG2_uc010aig.3_Splice_Site_p.K276_splice|NDRG2_uc001vze.3_Splice_Site_p.K287_splice|NDRG2_uc001vzd.3_Splice_Site_p.K287_splice|NDRG2_uc001vzg.3_Splice_Site_p.K273_splice|NDRG2_uc001vzf.3_Splice_Site_p.K273_splice	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	287					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGTTACTGACCTTGAGGAACG	0.572000														37			5		0	0	0.014758	0	0
TMEM177	80775	broad.mit.edu	37	2	120439264	120439264	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:120439264G>A	uc021vnk.1	+	0	835	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Missense_Mutation_p.V279I|TMEM177_uc002tmc.1_Missense_Mutation_p.V279I|TMEM177_uc002tmd.2_Missense_Mutation_p.V279I|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	279						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CGGGAACATCGTCCCCAGACA	0.582000														95			95		0	0	0.014410	0	0
SH3BP1	23616	broad.mit.edu	37	22	38051660	38051660	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:38051660G>A	uc003ati.3	+	17	2813	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	SH3BP1_uc003atg.1_Intron|SH3BP1_uc003ath.1_Intron|SH3BP1_uc003atj.1_Intron|SH3BP1_uc003atk.1_Intron|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	692					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCTCAGCCCCGCCCCAGGAGC	0.677000														7			8		0	0	0.008291	0	0
KCTD10	83892	broad.mit.edu	37	12	109889453	109889453	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:109889453C>T	uc001toj.1	-	6	2629	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	KCTD10_uc001toh.1_Non-coding_Transcript|KCTD10_uc009zvi.1_Missense_Mutation_p.V271M|KCTD10_uc001toi.1_Missense_Mutation_p.V297M|KCTD10_uc001tok.1_Missense_Mutation_p.V116M	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 10 (KCTD10), mRNA.	297					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						ATCCTCCGCACGCGCTCGATC	0.716000														80			46		0	0	0.014410	0	0
DHTKD1	55526	broad.mit.edu	37	10	12142226	12142226	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:12142226C>T	uc001ild.4	+	8	1820	c.1721C>T	c.(1720-1722)gCg>gTg	p.A574V		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	574					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGGGCCACCGCGGAAGCTCTT	0.423000														173			47		0	0	0.014410	0	0
EIF2C2	27161	broad.mit.edu	37	8	141595388	141595388	+	Silent	SNP	C	T	T	rs141930048	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:141595388C>T	uc003yvn.3	-	1	86	c.45G>A	c.(43-45)ccG>ccA	p.P15P	EIF2C2_uc010meo.3_Silent_p.P15P|EIF2C2_uc010men.3_Intron	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	15					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GGATGGGGGGCGGCGGCGCAG	0.592000														62			30		0	0	0.017118	0	0
C16orf58	64755	broad.mit.edu	37	16	31512031	31512031	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31512031C>T	uc002eci.2	-	2	449	c.437G>A	c.(436-438)cGc>cAc	p.R146H	C16orf58_uc010vfq.1_Missense_Mutation_p.R4H	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	Homo sapiens chromosome 16 open reading frame 58 (C16orf58), mRNA.	146						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						AAAGACGATGCGGCCCAGCAT	0.542000														54			14		0	0	0.024245	0	0
BSN	8927	broad.mit.edu	37	3	49699985	49699985	+	Silent	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:49699985C>T	uc003cxe.4	+	5	10821	c.10707C>T	c.(10705-10707)tcC>tcT	p.S3569S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3569					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCGTGGTTTCCGACAGCGAAG	0.597000														25			71		0	0	0.014410	0	0
PI15	51050	broad.mit.edu	37	8	75737579	75737579	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:75737579C>T	uc003yal.3	+	1	274	c.95C>T	c.(94-96)cCg>cTg	p.P32L	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Missense_Mutation_p.P32L	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	32						extracellular region	peptidase inhibitor activity	p.P32Q(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GACTCATCCCCGCCAACCAAT	0.478000														93			57		0	0	0.014410	0	0
BEST3	144453	broad.mit.edu	37	12	70048984	70048984	+	Silent	SNP	G	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:70048984G>A	uc001svg.3	-	9	1937	c.1710C>T	c.(1708-1710)agC>agT	p.S570S	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Silent_p.S357S|BEST3_uc010stm.2_Silent_p.S464S	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	570						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTCCTCAGCGCTGGCTGAAA	0.557000														77			22		0	0	0.014323	0	0
ZBTB48	3104	broad.mit.edu	37	1	6647351	6647354	+	Splice_Site	DEL	AGTA	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6647351_6647354delAGTA	uc009vmc.2	+	6	1347	c.1224_splice	c.e6+1	p.A408_splice	ZBTB48_uc001anx.3_Splice_Site_p.A408_splice|ZBTB48_uc009vmd.2_Splice_Site_p.A408_splice|ZBTB48_uc001any.2_Splice_Site_p.A46_splice	NM_005341	NP_005332	P10074	ZBT48_HUMAN	Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), mRNA.	408						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AGCCCCATGCAGTAAGTGACAGGG	0.564													---	66	---	---	9	---					
PHF13	148479	broad.mit.edu	37	1	6680127	6680128	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6680127_6680128insG	uc001aob.4	+	2	777_778	c.406_407insG	c.(406-408)aggfs	p.R136fs		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	136					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGGGGTACAGGGGGGGCTTG	0.604													---	155	---	---	17	---					
CLIC4	25932	broad.mit.edu	37	1	25167273	25167273	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:25167273delA	uc001bjo.2	+	5	892	c.607delA	c.(607-609)aaafs	p.K203fs	CLIC4_uc001bjp.1_Frame_Shift_Del_p.K183fs|CLIC4_uc021ojh.1_5'Flank	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	Homo sapiens chloride intracellular channel 4 (CLIC4), nuclear gene encoding mitochondrial protein, mRNA.	203	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		GGTGGTGGCCAAAAAATATCG	0.373													---	108	---	---	63	---					
ARID1A	8289	broad.mit.edu	37	1	27088659	27088659	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:27088659delC	uc001bmv.1	+	6	2641	c.2268delC	c.(2266-2268)aacfs	p.N756fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.N756fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.N756fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.N373fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	756					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGCAGAGGAACCCCCAGATGC	0.512			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								---	225	---	---	13	---					
DLGAP3	58512	broad.mit.edu	37	1	35365314	35365314	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:35365314delG	uc001byc.3	-	2	1342	c.1342delC	c.(1342-1344)cggfs	p.R448fs		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	448					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.R448Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				ATGGAGCTCCGGGGGTGGATC	0.577													---	205	---	---	31	---					
RNF220	55182	broad.mit.edu	37	1	45110396	45110397	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:45110396_45110397delAA	uc001clv.1	+	8	1513_1514	c.1153_1154delAA	c.(1153-1155)aaafs	p.K385fs	RNF220_uc001clw.1_Frame_Shift_Del_p.K385fs|RNF220_uc010okx.1_Frame_Shift_Del_p.K146fs|RNF220_uc010oky.1_Frame_Shift_Del_p.K172fs|RNF220_uc010okz.2_Frame_Shift_Del_p.K127fs|RNF220_uc001clx.2_Frame_Shift_Del_p.K101fs|RNF220_uc001cma.1_Frame_Shift_Del_p.K64fs	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	385					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GTGCAGCGGCAAAGAGAACCCG	0.599													---	115	---	---	49	---					
C1orf168	199920	broad.mit.edu	37	1	57192198	57192199	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:57192198_57192199insT	uc001cym.4	-	15	2257_2258	c.1851_1852insA	c.(1849-1854)aaagagfs	p.K617fs	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	617										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCGTTTTTCTCTTTTTTTTCCT	0.376													---	109	---	---	19	---					
DBT	1629	broad.mit.edu	37	1	100684291	100684293	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:100684291_100684293delTCT	uc001dta.3	-	4	477_479	c.444_446delAGA	c.(442-447)gaagat>gat	p.E148del	DBT_uc010oug.2_5'UTR|DBT_uc021oqo.1_In_Frame_Del_p.E148del	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	148					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTCAACAACATCTTCTTCTGAAT	0.384													---	136	---	---	69	---					
AK310441	0	broad.mit.edu	37	1	148891565	148891568	+	RNA	DEL	TGAC	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:148891565_148891568delTGAC	uc009wkv.1	+	8		c.867_870delTGAC								Homo sapiens cDNA, FLJ17483.																		GGTGTGTGTTTGACTGAATCAGGG	0.343													---	246	---	---	13	---					
LCE1A	353131	broad.mit.edu	37	1	152800020	152800020	+	Frame_Shift_Del	DEL	C	-	-	rs4990424		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:152800020delC	uc010pdw.2	+	0	72	c.72delC	c.(70-72)tgcfs	p.C24fs		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	24	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)			ctcccaagtgccccactccta	0.652													---	154	---	---	41	---					
HCN3	57657	broad.mit.edu	37	1	155258080	155258081	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:155258080_155258081delCT	uc001fjz.1	+	7	2159_2160	c.2151_2152delCT	c.(2149-2154)ccctctfs	p.P717fs	HCN3_uc010pfz.1_Frame_Shift_Del_p.P412fs	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	717	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCCCAACCCTCTCTGCCTCA	0.698													---	50	---	---	13	---					
IARS2	55699	broad.mit.edu	37	1	220307791	220307791	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:220307791delG	uc001hmc.3	+	14	1989	c.1885delG	c.(1885-1887)gggfs	p.G629fs		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	629					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AGACCAGCTCGGGGGTTGGTT	0.383													---	147	---	---	8	---					
DISP1	84976	broad.mit.edu	37	1	223176292	223176293	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:223176292_223176293delTG	uc001hnu.2	+	9	1879_1880	c.1553_1554delTG	c.(1552-1554)atgfs	p.M518fs		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	518	SSD.				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)		CTTTTAGTTATGTGTGTCTACA	0.361													---	143	---	---	30	---					
PFN4	375189	broad.mit.edu	37	2	24344101	24344103	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:24344101_24344103delCTT	uc002rfa.1	-	2	361_363	c.185_187delAAG	c.(184-189)gaagga>gga	p.E62del	LOC375190_uc002rew.3_Intron|LOC375190_uc010ykl.2_5'Flank	NM_199346	NP_955378	Q8NHR9	PROF4_HUMAN	Homo sapiens profilin family, member 4 (PFN4), mRNA.	62					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATACAGTCCTTCTCTTCGGGC	0.453													---	103	---	---	93	---					
VPS54	51542	broad.mit.edu	37	2	64199337	64199339	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:64199337_64199339delAGG	uc002scq.3	-	3	581_583	c.418_420delCCT	c.(418-420)cctdel	p.P140del	VPS54_uc002scp.3_In_Frame_Del_p.P128del|VPS54_uc010fct.3_In_Frame_Del_p.P23del	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	140					protein transport|retrograde transport, endosome to Golgi			p.P140T(2)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AGGTATCTTTAGGAGGACAAATA	0.286													---	47	---	---	14	---					
FAHD2B	151313	broad.mit.edu	37	2	97749725	97749725	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:97749725delG	uc002sxm.3	-	6	993	c.842delC	c.(841-843)ccafs	p.P281fs		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2B (FAHD2B), mRNA.	281							hydrolase activity|metal ion binding	p.P280P(1)		kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						ACCGACACCTGGGGGGGTCCC	0.552													---	52	---	---	16	---					
EN1	2019	broad.mit.edu	37	2	119600797	119600799	+	In_Frame_Del	DEL	TTC	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:119600797_119600799delTTC	uc002tlm.3	-	1	1910_1912	c.894_896delGAA	c.(892-897)aagaac>aac	p.K298del		NM_001426	NP_001417	Q05925	HME1_HUMAN	Homo sapiens engrailed homeobox 1 (EN1), mRNA.	298					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCTTCTCGTTCTTCTTCTTCT	0.680													---	11	---	---	6	---					
POTEF	728378	broad.mit.edu	37	2	130872806	130872806	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:130872806delT	uc010fmh.2	-	3	1017	c.617delA	c.(616-618)aagfs	p.K206fs		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	206						cell cortex	ATP binding	p.K206R(3)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGCTGTCCTCTTTTTGTTGTC	0.403													---	86	---	---	28	---					
POTEE	445582	broad.mit.edu	37	2	132021077	132021078	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:132021077_132021078insA	uc002tsn.2	+	14	2101_2102	c.2049_2050insA	c.(2047-2052)gtgaaafs	p.V683fs	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Frame_Shift_Ins_p.V283fs|POTEE_uc002tsl.2_Frame_Shift_Ins_p.V265fs|POTEE_uc010fmy.1_Frame_Shift_Ins_p.V147fs	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	683							ATP binding										TTGAAAGTGTGAAAAAAAAGAA	0.416													---	24	---	---	14	---					
C2orf77	129881	broad.mit.edu	37	2	170502600	170502603	+	Frame_Shift_Del	DEL	TTCT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170502600_170502603delTTCT	uc002ufe.2	-	8	1501_1504	c.1407_1410delAGAA	c.(1405-1410)aaagaafs	p.K469fs		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	469										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						AGTCCTGAAATTCTTTCTCCTTTT	0.373													---	352	---	---	38	---					
TTN	7273	broad.mit.edu	37	2	179598102	179598102	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179598102delT	uc021vsy.1	-	50	12411	c.12186delA	c.(12184-12186)aaafs	p.K4062fs	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.K723fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4989							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATTCGGTATTTTTTACTGG	0.468													---	109	---	---	86	---					
HTR2B	3357	broad.mit.edu	37	2	231973400	231973401	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:231973400_231973401delTT	uc002vro.3	-	3	1781_1782	c.1276_1277delAA	c.(1276-1278)aagfs	p.K426fs	PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Frame_Shift_Del_p.K359fs	NM_000867	NP_000858	P41595	5HT2B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	426					ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	CTTGAAAAACTTAGAGTTCTCT	0.426													---	69	---	---	34	---					
SLC9C1	285335	broad.mit.edu	37	3	112005610	112005610	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:112005610delA	uc003dyu.3	-	1	251	c.29delT	c.(28-30)ttcfs	p.F10fs	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Frame_Shift_Del_p.F10fs	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	10					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTCAGTACTGAAAAAAAACTC	0.353													---	33	---	---	12	---					
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:114058003delG	uc003ebi.3	-	4	2255	c.2075delC	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													---	28	---	---	88	---					
NPHP3	27031	broad.mit.edu	37	3	132403500	132403502	+	In_Frame_Del	DEL	TTC	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:132403500_132403502delTTC	uc003epe.2	-	23	3570_3572	c.3466_3468delGAA	c.(3466-3468)gaadel	p.E1156del	NPHP3_uc003eoz.1_In_Frame_Del_p.E35del|NPHP3_uc003epd.2_In_Frame_Del_p.E398del	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	1156					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCATAAAGTTCTTCTGCTTTA	0.419													---	20	---	---	40	---					
JAKMIP1	152789	broad.mit.edu	37	4	6052396	6052397	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:6052396_6052397delCT	uc010idb.1	-	13	2302_2303	c.1816_1817delAG	c.(1816-1818)aggfs	p.R606fs	JAKMIP1_uc010idc.1_Frame_Shift_Del_p.R421fs|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	378	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGCGACCTCCTCTCTCTCTCC	0.485													---	5	---	---	3	---					
CDH10	1008	broad.mit.edu	37	5	24491704	24491706	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:24491704_24491706delGAG	uc003jgr.2	-	10	2361_2363	c.1855_1857delCTC	c.(1855-1857)ctcdel	p.L619del	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	619					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGATGATGCAGAGGAGGATGGCG	0.483										HNSCC(23;0.051)			---	110	---	---	55	---					
ERBB2IP	55914	broad.mit.edu	37	5	65371013	65371014	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:65371013_65371014insC	uc003juk.2	+	22	4228_4229	c.3918_3919insC	c.(3916-3921)cagcccfs	p.Q1306fs	ERBB2IP_uc011cqx.2_Frame_Shift_Ins_p.Q1313fs|ERBB2IP_uc003jui.2_Frame_Shift_Ins_p.Q1265fs|ERBB2IP_uc003jul.2_Frame_Shift_Ins_p.Q1261fs|ERBB2IP_uc011cqy.2_Frame_Shift_Ins_p.Q1265fs|ERBB2IP_uc003juj.2_Intron|ERBB2IP_uc011cqz.2_Frame_Shift_Ins_p.Q504fs|ERBB2IP_uc010iwx.2_Frame_Shift_Ins_p.Q1309fs	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	1306					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CATATACACAGCCCCATTGTTC	0.421													---	230	---	---	27	---					
PPIP5K2	23262	broad.mit.edu	37	5	102537324	102537324	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:102537324delA	uc003kod.4	+	30	4240	c.3721delA	c.(3721-3723)aaafs	p.K1241fs	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Frame_Shift_Del_p.K1220fs|PPIP5K2_uc003kof.3_Frame_Shift_Del_p.K423fs	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	1241					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAACACTGGGAAAAAGAAATG	0.313													---	15	---	---	13	---					
MCC	4163	broad.mit.edu	37	5	112363035	112363037	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:112363035_112363037delCTC	uc003kql.4	-	18	3438_3440	c.3022_3024delGAG	c.(3022-3024)gagdel	p.E1008del	MCC_uc003kqj.4_In_Frame_Del_p.E818del|MCC_uc003kqk.4_Non-coding_Transcript	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	818					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCTGGAGTTCTCCTCCTCTAGC	0.507													---	90	---	---	52	---					
KDM3B	51780	broad.mit.edu	37	5	137721747	137721749	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:137721747_137721749delAAG	uc003lcy.1	+	6	1017_1019	c.817_819delAAG	c.(817-819)aagdel	p.K275del	KDM3B_uc010jew.1_5'UTR|KDM3B_uc011cys.1_5'Flank	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	275					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTCCAAAGGAAAGAAGAAGAGAG	0.419													---	142	---	---	65	---					
PSD2	84249	broad.mit.edu	37	5	139189297	139189298	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:139189297_139189298delAA	uc003leu.1	+	1	477_478	c.272_273delAA	c.(271-273)gaafs	p.E91fs		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	91					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACATTCTGGAAGATTCAGCGG	0.619													---	150	---	---	77	---					
PCDHAC2	56134	broad.mit.edu	37	5	140255597	140255601	+	Frame_Shift_Del	DEL	TAAAA	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140255597_140255601delTAAAA	uc003lic.2	+	0	667_671	c.540_544delTAAAA	c.(538-546)cttaaaatafs	p.L180fs	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_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Frame_Shift_Del_p.L180fs	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	195	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L180L(1)		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)			ATTTTGAGCTTAAAATAAAAACAAA	0.366													---	82	---	---	20	---					
HIGD2A	192286	broad.mit.edu	37	5	175815916	175815917	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:175815916_175815917delAG	uc003meg.3	+	0	133_134	c.96_97delAG	c.(94-99)ccagagfs	p.P32fs	NOP16_uc003mee.3_5'Flank|NOP16_uc003med.3_5'Flank|NOP16_uc011dfl.2_5'Flank|NOP16_uc011dfm.1_5'Flank	NM_138820	NP_620175	Q9BW72	HIG2A_HUMAN	Homo sapiens HIG1 hypoxia inducible domain family, member 2A (HIGD2A), mRNA.	32	HIG1.					integral to membrane				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		ACAGGAATCCAGAGAGTTTCAA	0.564													---	154	---	---	94	---					
SNAP91	9892	broad.mit.edu	37	6	84417562	84417563	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:84417562_84417563insT	uc021zcf.1	-	0	114_115	c.84_85insA	c.(82-87)aaagccfs	p.K28fs	SNAP91_uc003pka.3_Frame_Shift_Ins_p.K28fs|SNAP91_uc011dze.2_Frame_Shift_Ins_p.K28fs|SNAP91_uc003pkc.3_Frame_Shift_Ins_p.K28fs|SNAP91_uc003pkd.3_Frame_Shift_Ins_p.K28fs|SNAP91_uc003pkb.3_5'UTR|SNAP91_uc011dzf.1_5'UTR	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	28	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGAGTAGTGGCTTTGCAGACCG	0.559													---	57	---	---	98	---					
LATS1	9113	broad.mit.edu	37	6	150005515	150005515	+	Frame_Shift_Del	DEL	G	-	-	rs56149740		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:150005515delG	uc003qmu.1	-	3	1258	c.710delC	c.(709-711)ccafs	p.P237fs	LATS1_uc010kif.1_Frame_Shift_Del_p.P132fs|LATS1_uc003qmv.2_Frame_Shift_Del_p.P237fs|LATS1_uc003qmw.3_Frame_Shift_Del_p.P237fs|LATS1_uc010kig.1_Frame_Shift_Del_p.P132fs	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	237			P -> Q (in dbSNP:rs56149740).		G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGGTGGTGGTGGGGGGTTCAC	0.532													---	149	---	---	18	---					
FKBP9	11328	broad.mit.edu	37	7	33014804	33014804	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:33014804delC	uc011kal.2	+	3	718	c.537delC	c.(535-537)atcfs	p.I179fs	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Frame_Shift_Del_p.I126fs|FKBP9_uc010kwm.3_Frame_Shift_Del_p.I33fs	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	126	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTGGTGTGATCCCCCCCAATT	0.443													---	71	---	---	33	---					
PON1	5444	broad.mit.edu	37	7	94931546	94931548	+	In_Frame_Del	DEL	AGA	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:94931546_94931548delAGA	uc003uns.3	-	7	975_977	c.878_880delTCT	c.(877-882)ttctat>tat	p.F293del	PON1_uc011kih.2_In_Frame_Del_p.F293del	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	293					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TCTGAGTCATAGAAGAAGATTTT	0.399													---	108	---	---	20	---					
MCM7	4176	broad.mit.edu	37	7	99690987	99690989	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:99690987_99690989delTCT	uc003usw.1	-	13	2394_2396	c.1884_1886delAGA	c.(1882-1887)gaagat>gat	p.E628del	MCM7_uc003usv.1_In_Frame_Del_p.E452del|MCM7_uc003usx.1_In_Frame_Del_p.E452del|DD413568_uc022aif.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	628	Interaction with ATRIP.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TTCATTCACATCTTCTTTCTCCA	0.527													---	209	---	---	107	---					
SLC13A4	26266	broad.mit.edu	37	7	135375977	135375977	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:135375977delC	uc003vtb.3	-	12	2107	c.1418delG	c.(1417-1419)ggafs	p.G473fs	SLC13A4_uc003vta.3_Frame_Shift_Del_p.G472fs|C7orf73_uc003vsz.4_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	472						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						AGCATAGCCTCCCCCAACCAG	0.507													---	62	---	---	36	---					
EPHB6	2051	broad.mit.edu	37	7	142561447	142561448	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:142561447_142561448insG	uc011kst.2	+	5	946_947	c.159_160insG	c.(157-162)ccagggfs	p.P53fs	EPHB6_uc011ksu.2_Frame_Shift_Ins_p.P53fs|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	53						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTACCCACCAGGGGGGGTGAG	0.574													---	165	---	---	7	---					
SLC4A2	6522	broad.mit.edu	37	7	150761737	150761737	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:150761737delG	uc022apz.1	+	3	1382	c.342delG	c.(340-342)ccgfs	p.P114fs	SLC4A2_uc003wit.4_Frame_Shift_Del_p.P114fs|SLC4A2_uc011kve.2_Frame_Shift_Del_p.P105fs|SLC4A2_uc003wiu.4_Frame_Shift_Del_p.P100fs	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	114	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCCTCCCCGACTGGAGAAA	0.687													---	61	---	---	35	---					
CLU	1191	broad.mit.edu	37	8	27468075	27468076	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:27468075_27468076delAG	uc003xfy.2	-	1	193_194	c.46_47delCT	c.(46-48)ctgfs	p.L16fs	CLU_uc003xfw.2_Frame_Shift_Del_p.L5fs|CLU_uc003xfx.2_Frame_Shift_Del_p.L5fs|CLU_uc003xfz.2_Frame_Shift_Del_p.L5fs	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	5					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		AAACAGCAGCAGAGTCTTCATC	0.584													---	41	---	---	28	---					
MTFR1	9650	broad.mit.edu	37	8	66620197	66620197	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:66620197delA	uc011lep.2	+	6	1096	c.884delA	c.(883-885)gaafs	p.E295fs	MTFR1_uc003xvm.2_Frame_Shift_Del_p.E295fs|MTFR1_uc003xvn.2_Frame_Shift_Del_p.E262fs	NM_001145839	NP_001139311	Q15390	MTFR1_HUMAN	Homo sapiens mitochondrial fission regulator 1 (MTFR1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	295						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATGAAGTTGAAAAAGGAATT	0.443													---	125	---	---	43	---					
VPS13B	157680	broad.mit.edu	37	8	100796702	100796702	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:100796702delC	uc003yiv.3	+	42	8125	c.8014delC	c.(8014-8016)cagfs	p.Q2672fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.Q2647fs	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2672					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAATCCCCACAGGTATTTGA	0.468													---	69	---	---	39	---					
WDR67	93594	broad.mit.edu	37	8	124105886	124105886	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:124105886delT	uc003ypp.2	+	4	665	c.575delT	c.(574-576)attfs	p.I192fs	WDR67_uc011lig.2_Frame_Shift_Del_p.I192fs|WDR67_uc011lih.2_Frame_Shift_Del_p.I82fs|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003ypo.1_Frame_Shift_Del_p.I192fs|WDR67_uc003ypr.3_Non-coding_Transcript	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	192						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GATAATTCCATTTTTGCCTGG	0.348													---	42	---	---	18	---					
FOXD4	2298	broad.mit.edu	37	9	117366	117367	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:117366_117367insG	uc003zfz.3	-	0	1051_1052	c.753_754insC	c.(751-756)cccgggfs	p.P251fs		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	251	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGGCGTCTCCCGGGGCCGGTGT	0.728													---	69	---	---	8	---					
CCIN	881	broad.mit.edu	37	9	36170732	36170732	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:36170732delC	uc003zzb.4	+	0	1344	c.1233delC	c.(1231-1233)atcfs	p.I411fs		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	411					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			AGATGAGCATCCCCATGGATG	0.552													---	141	---	---	21	---					
RGS3	5998	broad.mit.edu	37	9	116246504	116246506	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:116246504_116246506delCTT	uc004bhq.3	+	6	821_823	c.612_614delCTT	c.(610-615)cacttc>cac	p.F207del	RGS3_uc004bhr.3_In_Frame_Del_p.F95del|RGS3_uc004bhs.3_In_Frame_Del_p.F97del	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	207	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACGAGCACTTCTTCTTGTAA	0.473													---	77	---	---	38	---					
PHF19	26147	broad.mit.edu	37	9	123624994	123624996	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123624994_123624996delCTT	uc004bks.1	-	10	1253_1255	c.1000_1002delAAG	c.(1000-1002)aagdel	p.K334del	PHF19_uc011lyf.1_In_Frame_Del_p.K125del|PHF19_uc004bkr.2_Non-coding_Transcript	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	Homo sapiens PHD finger protein 19 (PHF19), transcript variant 1, mRNA.	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAAGATGCACTTCTTCTTCTTG	0.606													---	374	---	---	64	---					
PPP1R26	9858	broad.mit.edu	37	9	138379043	138379043	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:138379043delG	uc022bpi.1	+	0	2687	c.2687delG	c.(2686-2688)aggfs	p.R896fs	PPP1R26_uc004cfr.1_Frame_Shift_Del_p.R896fs	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	896						nucleolus	protein binding										CAGAGGGCCAGGGGGGTCCCA	0.701													---	137	---	---	71	---					
TAF3	83860	broad.mit.edu	37	10	8007427	8007427	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:8007427delC	uc010qbd.2	+	2	1954	c.1954delC	c.(1954-1956)cccfs	p.P652fs		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	652	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGCCCCAGCACCCCCACTGGT	0.488													---	85	---	---	61	---					
ANKRD26	22852	broad.mit.edu	37	10	27322259	27322259	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:27322259delT	uc009xku.1	-	24	3874	c.3702delA	c.(3700-3702)aaafs	p.K1234fs	ANKRD26_uc001itg.2_Frame_Shift_Del_p.K920fs|ANKRD26_uc001ith.2_Frame_Shift_Del_p.K1233fs	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	1233						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACATAGATTGTTTTTTTAGGG	0.323													---	63	---	---	23	---					
SVIL	6840	broad.mit.edu	37	10	29760116	29760116	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:29760116delC	uc001iut.1	-	30	6339	c.5586delG	c.(5584-5586)gggfs	p.G1862fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.G776fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.G1436fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1862					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCACCACCATCCCCCCCTGGA	0.527													---	21	---	---	16	---					
SVIL	6840	broad.mit.edu	37	10	29822002	29822004	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:29822002_29822004delCTT	uc001iut.1	-	7	2045_2047	c.1292_1294delAAG	c.(1291-1296)gaaggg>ggg	p.E431del	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_In_Frame_Del_p.E431del	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	431					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				tctccttccccttcttcttcttc	0.498													---	48	---	---	12	---					
SLK	9748	broad.mit.edu	37	10	105727509	105727511	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105727509_105727511delCTT	uc001kxo.1	+	0	40_42	c.6_8delCTT	c.(4-9)tccttc>tcc	p.F4del	SLK_uc001kxp.1_In_Frame_Del_p.F4del	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	4					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAAAATGTCCTTCTTCAATTTC	0.483													---	157	---	---	41	---					
PWWP2B	170394	broad.mit.edu	37	10	134218375	134218375	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:134218375delC	uc001lll.4	+	1	400	c.371delC	c.(370-372)gccfs	p.A124fs	PWWP2B_uc009ybe.3_Frame_Shift_Del_p.A124fs	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	124	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TTCGAAGGCGCCCCCTTCCCT	0.751													---	29	---	---	11	---					
TUBGCP2	10844	broad.mit.edu	37	10	135103416	135103418	+	In_Frame_Del	DEL	GTT	-	-	rs141945979	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:135103416_135103418delGTT	uc010qvc.1	-	9	1711_1713	c.1354_1356delAAC	c.(1354-1356)aacdel	p.N452del	TUBGCP2_uc001lmf.1_In_Frame_Del_p.N17del|TUBGCP2_uc001lmg.1_In_Frame_Del_p.N424del|TUBGCP2_uc010qvd.1_In_Frame_Del_p.N294del|TUBGCP2_uc009ybk.1_In_Frame_Del_p.N424del|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	424					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGTACTTGTCGTTGTAATCCTCC	0.581													---	74	---	---	15	---					
IFITM1	8519	broad.mit.edu	37	11	314210	314210	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:314210delC	uc001loy.4	+	0	220	c.40delC	c.(40-42)cccfs	p.P14fs		NM_003641	NP_003632	P13164	IFM1_HUMAN	Homo sapiens interferon induced transmembrane protein 1 (9-27) (IFITM1), mRNA.	14					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTGGGGCCACCCCCCAGCAC	0.562													---	136	---	---	22	---					
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	-	-	rs61867552	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:864443_864445delCTG	uc001lsd.1	+	4	471_473	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_uc001lse.1_In_Frame_Del_p.L28del|TSPAN4_uc001lsf.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsg.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsh.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsi.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsj.1_In_Frame_Del_p.L92del	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.650													---	221	---	---	7	---					
QSER1	79832	broad.mit.edu	37	11	32997894	32997895	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:32997894_32997895insA	uc001mty.3	+	12	5349_5350	c.5082_5083insA	c.(5080-5085)cagaaafs	p.Q1694fs	QSER1_uc001mtz.1_Frame_Shift_Ins_p.Q1455fs	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1694										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTTCGGTGCAGAAAAAAAATGA	0.292													---	45	---	---	20	---					
HIPK3	10114	broad.mit.edu	37	11	33308890	33308891	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33308890_33308891insA	uc001mul.1	+	1	1200_1201	c.930_931insA	c.(928-933)ctgaaafs	p.L310fs	HIPK3_uc001mum.1_Frame_Shift_Ins_p.L310fs|HIPK3_uc009yjv.1_Frame_Shift_Ins_p.L310fs	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	310	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCACTGCACTGAAAAAATTGAA	0.391													---	168	---	---	34	---					
OR8H1	219469	broad.mit.edu	37	11	56058354	56058354	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:56058354delA	uc010rje.2	-	0	185	c.185delT	c.(184-186)ttcfs	p.F62fs		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F61F(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTGAGTAAGGAAAAAATACAT	0.403													---	354	---	---	10	---					
MTA2	9219	broad.mit.edu	37	11	62362913	62362916	+	Frame_Shift_Del	DEL	GAGA	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62362913_62362916delGAGA	uc001ntq.2	-	13	1693_1696	c.1303_1306delTCTC	c.(1303-1308)tctcctfs	p.S435fs	MTA2_uc010rlx.1_Frame_Shift_Del_p.S262fs	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	435					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGTGTAAGGAGAGAGACTTTGA	0.510													---	157	---	---	36	---					
SLC3A2	6520	broad.mit.edu	37	11	62649529	62649529	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62649529delA	uc001nwd.3	+	4	1150	c.892delA	c.(892-894)aaafs	p.K298fs	SLC3A2_uc001nwc.3_Frame_Shift_Del_p.K299fs|SLC3A2_uc001nwf.3_Frame_Shift_Del_p.K236fs|SLC3A2_uc001nwg.3_Frame_Shift_Del_p.K197fs|SLC3A2_uc010rml.1_5'Flank	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	298					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.K331fs*31(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCAATCGGCTAAAAAAAAGAG	0.463													---	65	---	---	57	---					
RCE1	9986	broad.mit.edu	37	11	66612694	66612696	+	In_Frame_Del	DEL	TCT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66612694_66612696delTCT	uc001ojk.1	+	5	721_723	c.677_679delTCT	c.(676-681)atcttc>atc	p.F227del	RCE1_uc001ojl.1_In_Frame_Del_p.F123del	NM_005133	NP_001027450	Q9Y256	FACE2_HUMAN	Homo sapiens RCE1 homolog, prenyl protein protease (S. cerevisiae) (RCE1), transcript variant 1, mRNA.	227					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGGGGAACATCTTCTTGTCTGC	0.527													---	52	---	---	30	---					
TBX10	347853	broad.mit.edu	37	11	67402373	67402373	+	Frame_Shift_Del	DEL	G	-	-	rs144542807		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67402373delG	uc001omp.3	-	2	379	c.291delC	c.(289-291)cccfs	p.P97fs		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	97					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TCACCTGGAAGGGGGGGAACA	0.677													---	58	---	---	43	---					
PCF11	51585	broad.mit.edu	37	11	82877339	82877340	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:82877339_82877340delAG	uc001ozx.4	+	4	1745_1746	c.1400_1401delAG	c.(1399-1401)cagfs	p.Q467fs	PCF11_uc010rsu.1_Frame_Shift_Del_p.Q467fs	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	467					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCAGAAAAACAGGGGACAAAAC	0.411													---	18	---	---	11	---					
CCDC15	80071	broad.mit.edu	37	11	124845049	124845049	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:124845049delA	uc001qbm.4	+	4	833	c.574delA	c.(574-576)aaafs	p.K192fs		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	192						centrosome		p.K194fs*29(5)|p.S196fs*6(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AACCGTGATTAAAAAAAAGGG	0.373													---	38	---	---	9	---					
CACNB3	784	broad.mit.edu	37	12	49221502	49221504	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49221502_49221504delGGA	uc001rsl.2	+	12	1734_1736	c.1275_1277delGGA	c.(1273-1278)ctggag>ctg	p.E427del	CACNB3_uc010sly.2_In_Frame_Del_p.E414del|CACNB3_uc010slz.2_In_Frame_Del_p.E426del|CACNB3_uc001rsk.2_In_Frame_Del_p.E274del|CACNB3_uc021qxm.1_In_Frame_Del_p.E386del	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	427					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CCCGCCACCTGGAGGAGGACTAT	0.631													---	148	---	---	33	---					
OAS1	4938	broad.mit.edu	37	12	113354493	113354494	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:113354493_113354494insA	uc001tuc.3	+	3	940_941	c.834_835insA	c.(832-837)tttaaafs	p.F278fs	OAS1_uc010syn.2_Frame_Shift_Ins_p.F277fs|OAS1_uc010syo.2_3'UTR|OAS1_uc001tub.3_Frame_Shift_Ins_p.F278fs|OAS1_uc001tud.3_Frame_Shift_Ins_p.F278fs|OAS1_uc009zwf.3_Frame_Shift_Ins_p.F277fs	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	278					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						ATTATGACTTTAAAAACCCCAT	0.431													---	125	---	---	78	---					
C14orf118	55668	broad.mit.edu	37	14	76668169	76668173	+	Frame_Shift_Del	DEL	AAGAA	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:76668169_76668173delAAGAA	uc001xsh.3	+	9	1510_1514	c.1424_1428delAAGAA	c.(1423-1428)caagaafs	p.Q475fs	C14orf118_uc001xsi.3_Frame_Shift_Del_p.Q470fs|C14orf118_uc001xsl.3_Non-coding_Transcript|C14orf118_uc001xsn.1_Non-coding_Transcript	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	Homo sapiens chromosome 14 open reading frame 118 (C14orf118), transcript variant 1, mRNA.	475								p.E476*(2)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(2)	16				BRCA - Breast invasive adenocarcinoma(234;0.0172)		AAAATGCCACAAGAAAAGAGCCCTG	0.488													---	49	---	---	40	---					
UNC79	57578	broad.mit.edu	37	14	93963615	93963615	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:93963615delG	uc001ybv.1	+	3	433	c.350delG	c.(349-351)aggfs	p.R117fs	UNC79_uc001ybs.1_Frame_Shift_Del_p.R117fs|UNC79_uc001ybu.1_Intron	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	294						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGCGAGTACAGGGGGTTGCAG	0.493													---	16	---	---	28	---					
ZNF770	54989	broad.mit.edu	37	15	35274621	35274621	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:35274621delT	uc001ziw.3	-	2	1369	c.1015delA	c.(1015-1017)atcfs	p.I339fs	ZNF770_uc021siy.1_Frame_Shift_Del_p.I339fs	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I339I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTGGCCAAGATTTTTTTAACA	0.328													---	26	---	---	11	---					
IL16	3603	broad.mit.edu	37	15	81592468	81592469	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:81592468_81592469insC	uc021ssh.1	+	12	2902_2903	c.2801_2802insC	c.(2800-2802)ctcfs	p.L934fs	IL16_uc010blq.1_Frame_Shift_Ins_p.L888fs|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Frame_Shift_Ins_p.L976fs|IL16_uc002bgg.3_Frame_Shift_Ins_p.L934fs|IL16_uc002bgi.1_Frame_Shift_Ins_p.L324fs|IL16_uc002bgj.3_Frame_Shift_Ins_p.L428fs|IL16_uc021ssi.1_Frame_Shift_Ins_p.L233fs|IL16_uc002bgl.1_Frame_Shift_Ins_p.L233fs|IL16_uc010unq.1_Frame_Shift_Ins_p.L233fs	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	934				L -> F (in Ref. 1; AAD04636).	immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGAAAACTCTCCCCCCTGGCC	0.644													---	157	---	---	10	---					
C16orf42	115939	broad.mit.edu	37	16	1400178	1400180	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1400178_1400180delAAG	uc002cll.3	-	3	650_652	c.582_584delCTT	c.(580-585)ttcttg>ttg	p.F194del	GNPTG_uc002clm.3_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	Homo sapiens chromosome 16 open reading frame 42 (C16orf42), mRNA.	194					rRNA processing					endometrium(1)|kidney(1)|lung(2)	4		Hepatocellular(780;0.0893)				GTTCAGGTCCAAGAAGCCCTTGC	0.591													---	44	---	---	21	---					
CHD9	80205	broad.mit.edu	37	16	53260306	53260307	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:53260306_53260307insA	uc002ehb.3	+	3	2089_2090	c.1925_1926insA	c.(1924-1926)agafs	p.R642fs	CHD9_uc002egy.3_Frame_Shift_Ins_p.R642fs|CHD9_uc002egz.1_Frame_Shift_Ins_p.R642fs|CHD9_uc002ehc.3_Frame_Shift_Ins_p.R642fs|CHD9_uc002ehd.2_Frame_Shift_Ins_p.R168fs	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	642	Lys-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAAATTAAAAGAAAAAAATACG	0.292													---	28	---	---	8	---					
FAM65A	79567	broad.mit.edu	37	16	67572573	67572575	+	Splice_Site	DEL	AGG	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67572573_67572575delAGG	uc010vjp.2	+	3	351	c.165_splice	c.e3-1	p.R55_splice	FAM65A_uc010cei.2_Splice_Site|FAM65A_uc002eth.3_Splice_Site_p.R35_splice|FAM65A_uc010cej.3_In_Frame_Del_p.R39del|FAM65A_uc002eti.2_Intron|FAM65A_uc010vjq.2_Splice_Site_p.R49_splice|FAM65A_uc002etj.1_Splice_Site_p.R34_splice|FAM65A_uc002etk.3_Splice_Site_p.R34_splice	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	39						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCTCTCCTTCAGGAGTTTCCCGG	0.660													---	91	---	---	87	---					
NUDT7	283927	broad.mit.edu	37	16	77775744	77775744	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:77775744delA	uc010chd.3	+	3	705	c.614delA	c.(613-615)gaafs	p.E205fs	NUDT7_uc021tlp.1_3'UTR|NUDT7_uc021tlq.1_Frame_Shift_Del_p.E190fs|NUDT7_uc010vnj.2_Frame_Shift_Del_p.E152fs	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA.	205					nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						ATCATTTTGGAAAAAAAACCC	0.383													---	53	---	---	43	---					
ATMIN	23300	broad.mit.edu	37	16	81076800	81076801	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:81076800_81076801delTG	uc002ffz.1	+	3	715_716	c.697_698delTG	c.(697-699)tgtfs	p.C233fs	ATMIN_uc002fga.2_Frame_Shift_Del_p.C75fs|ATMIN_uc010vnn.1_Frame_Shift_Del_p.C4fs|ATMIN_uc002fgb.1_Frame_Shift_Del_p.C75fs	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	233	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AATGGAAAACTGTGCACAAAAC	0.376													---	70	---	---	22	---					
GPS2	2874	broad.mit.edu	37	17	7216932	7216935	+	Frame_Shift_Del	DEL	AGTG	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7216932_7216935delAGTG	uc002gfx.1	-	6	978_981	c.586_589delCACT	c.(586-591)cactatfs	p.H196fs	GPS2_uc002gfw.1_Frame_Shift_Del_p.H158fs|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_Frame_Shift_Del_p.H196fs	NM_004489	NP_004480	Q13227	GPS2_HUMAN	Homo sapiens G protein pathway suppressor 2 (GPS2), mRNA.	196					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTGGGCCCATAGTGAGGTGGGGGC	0.574											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	38	---	---	103	---					
KCNAB3	9196	broad.mit.edu	37	17	7829255	7829255	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7829255delC	uc002gjm.1	-	5	488	c.488delG	c.(487-489)ggafs	p.G163fs	KCNAB3_uc010vul.1_Non-coding_Transcript	NM_004732	NP_004723	O43448	KCAB3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA.	163						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TTACTGTCCTCCCCAAAAAAT	0.498													---	201	---	---	10	---					
ALDH3A1	218	broad.mit.edu	37	17	19641649	19641649	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:19641649delG	uc002gwk.3	-	7	1948	c.1685delC	c.(1684-1686)ccgfs	p.P562fs	ALDH3A1_uc010cqu.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010vzd.2_Frame_Shift_Del_p.P445fs|ALDH3A1_uc002gwj.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010cqv.3_Frame_Shift_Del_p.P444fs|ALDH3A1_uc002gwl.1_Frame_Shift_Del_p.P372fs			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	445					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GGCCGGGCTCGGGGGGTATCT	0.627													---	68	---	---	139	---					
NF1	4763	broad.mit.edu	37	17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:29562657_29562660delTGTT	uc002hgg.3	+	27	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.L1246fs	NF1_uc002hgh.3_Frame_Shift_Del_p.L1246fs|NF1_uc010csn.2_Frame_Shift_Del_p.L1106fs|NF1_uc002hgi.1_Frame_Shift_Del_p.L279fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1246	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.F1247fs*16(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	87	---	---	236	---					
FBXL20	84961	broad.mit.edu	37	17	37420470	37420471	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:37420470_37420471delAT	uc002hrt.3	-	13	1414_1415	c.1160_1161delAT	c.(1159-1161)tatfs	p.Y387fs	FBXL20_uc010cvu.3_Frame_Shift_Del_p.Y355fs	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA.	387						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GCTGGCAGTCATAGAGTTCTAT	0.480													---	77	---	---	166	---					
PLEKHH3	79990	broad.mit.edu	37	17	40820242	40820244	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:40820242_40820244delGGA	uc002iau.2	-	12	2750_2752	c.2283_2285delTCC	c.(2281-2286)cctcca>cca	p.761_762PP>P	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_3'UTR	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	761					signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTCTTGGCATGGAGGAGAAGAGC	0.650													---	15	---	---	40	---					
MGAT5B	146664	broad.mit.edu	37	17	74878237	74878237	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:74878237delG	uc002jti.3	+	1	322	c.219delG	c.(217-219)atgfs	p.M73fs	MGAT5B_uc002jtg.4_Frame_Shift_Del_p.M62fs|MGAT5B_uc002jth.3_Frame_Shift_Del_p.M62fs	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	62						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACAGTGATGGGGGGCCCCG	0.662													---	79	---	---	7	---					
HGS	9146	broad.mit.edu	37	17	79660715	79660717	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:79660715_79660717delAGG	uc002kbg.3	+	9	908_910	c.773_775delAGG	c.(772-777)caggag>cag	p.E262del		NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	262	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ACGGCCCTGCAGGAGGAGGAGGA	0.729													---	5	---	---	6	---					
ADNP2	22850	broad.mit.edu	37	18	77896426	77896426	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:77896426delA	uc002lnw.3	+	3	3585	c.3130delA	c.(3130-3132)aaafs	p.K1044fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1044					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATTAGATCCTAAAAAATATGA	0.358													---	29	---	---	34	---					
MCOLN1	57192	broad.mit.edu	37	19	7594070	7594072	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:7594070_7594072delCTT	uc002mgo.3	+	9	1359_1361	c.1218_1220delCTT	c.(1216-1221)accttc>acc	p.F408del	MCOLN1_uc002mgp.3_In_Frame_Del_p.F373del	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	408			Missing (in MLIV; mild psychomotor involvement; does not affect channel activity; affects channel inhibition by low pH; still localizes to late endosomes).		calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTACCTGACCTTCTTCCACAAC	0.581													---	83	---	---	21	---					
MAVS	57506	broad.mit.edu	37	20	3845039	3845041	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:3845039_3845041delCTC	uc002wjw.4	+	5	934_936	c.762_764delCTC	c.(760-765)ttctcc>ttc	p.S258del	MAVS_uc002wjx.4_In_Frame_Del_p.S117del|MAVS_uc002wjy.4_5'UTR	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	258					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCACCTCCTTCTCCTCCTCATCC	0.626													---	115	---	---	53	---					
GTSF1L	149699	broad.mit.edu	37	20	42354972	42354972	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:42354972delA	uc002xld.3	-	0	671	c.363delT	c.(361-363)tttfs	p.F121fs	GTSF1L_uc002xlc.3_Frame_Shift_Del_p.F96fs	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.	121							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCTTTTGAGGAAAAAAAGTCT	0.493													---	112	---	---	18	---					
SALL4	57167	broad.mit.edu	37	20	50400983	50400983	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:50400983delC	uc002xwh.4	-	3	3084	c.2983delG	c.(2983-2985)gttfs	p.V995fs	SALL4_uc010gii.3_Frame_Shift_Del_p.V558fs|SALL4_uc002xwi.4_Frame_Shift_Del_p.V218fs	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGTAGGAACCCCCCCACTC	0.562													---	116	---	---	24	---					
ZNF831	128611	broad.mit.edu	37	20	57769140	57769140	+	Frame_Shift_Del	DEL	G	-	-	rs55786258	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:57769140delG	uc002yan.3	+	0	3066	c.3066delG	c.(3064-3066)ttgfs	p.L1022fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1022						intracellular	nucleic acid binding|zinc ion binding	p.D1025fs*9(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCACAGTTGGGGGGGGACA	0.682													---	57	---	---	18	---					
TNFRSF6B	8771	broad.mit.edu	37	20	62328415	62328417	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62328415_62328417delGAG	uc002yfy.3	+	4	923_925	c.295_297delGAG	c.(295-297)gagdel	p.E101del	RTEL1_uc002yfu.2_3'UTR|RTEL1_uc011abd.2_3'UTR|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_3'UTR|RTEL1_uc021wge.1_3'UTR|RTEL1_uc002yfx.1_3'UTR|TNFRSF6B_uc002yfz.3_In_Frame_Del_p.E101del	NM_003823	NP_003814	O95407	TNF6B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), mRNA.	101					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CGGGGAGCGTGAGGAGGAGGCAC	0.670													---	35	---	---	9	---					
DIP2A	23181	broad.mit.edu	37	21	47954526	47954527	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47954526_47954527insG	uc002zjo.2	+	12	1751_1752	c.1568_1569insG	c.(1567-1569)gtgfs	p.V523fs	DIP2A_uc011afy.1_Frame_Shift_Ins_p.V459fs|DIP2A_uc011afz.1_Frame_Shift_Ins_p.V519fs|DIP2A_uc002zjl.3_Frame_Shift_Ins_p.V523fs|DIP2A_uc002zjm.3_Frame_Shift_Ins_p.V523fs|DIP2A_uc010gql.3_Frame_Shift_Ins_p.V480fs|DIP2A_uc002zjn.3_Frame_Shift_Ins_p.V523fs|DIP2A_uc002zjp.1_Frame_Shift_Ins_p.V268fs|Metazoa_SRP_uc021wkb.1_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	523					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCAGTACGGTGGGGGTCACAG	0.535													---	32	---	---	26	---					
YWHAH	7533	broad.mit.edu	37	22	32352168	32352170	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:32352168_32352170delCTC	uc003alz.3	+	1	371_373	c.130_132delCTC	c.(130-132)ctcdel	p.L45del	YWHAH_uc003ama.3_5'UTR|YWHAH_uc010gwm.3_In_Frame_Del_p.L32del	NM_003405	NP_003396	Q04917	1433F_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide (YWHAH), mRNA.	45					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						AGATCGAAATCTCCTCTCTGTGG	0.438													---	118	---	---	18	---					
CSF2RB	1439	broad.mit.edu	37	22	37333546	37333546	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37333546delC	uc003aqa.4	+	13	1913	c.1696delC	c.(1696-1698)cccfs	p.P566fs	CSF2RB_uc003aqc.4_Frame_Shift_Del_p.P572fs	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	566					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CACAGAGCAGCCCCCCAGCCC	0.637													---	52	---	---	7	---					
SHROOM2	357	broad.mit.edu	37	X	9900853	9900853	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:9900853delC	uc004csu.1	+	5	3620	c.3530delC	c.(3529-3531)gccfs	p.A1177fs	SHROOM2_uc004csv.2_Frame_Shift_Del_p.A12fs|SHROOM2_uc011mic.1_Frame_Shift_Del_p.A12fs|SHROOM2_uc004csw.1_Frame_Shift_Del_p.A12fs	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1177					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCCAGTTCGCCCCCCAGAAA	0.627													---	43	---	---	23	---					
ACOT9	23597	broad.mit.edu	37	X	23723697	23723698	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:23723697_23723698insA	uc004dao.3	-	12	1093_1094	c.947_948insT	c.(946-948)ttcfs	p.F316fs	ACOT9_uc004dan.3_Frame_Shift_Ins_p.F57fs|ACOT9_uc004dap.3_Frame_Shift_Ins_p.F307fs|ACOT9_uc011mjt.2_Non-coding_Transcript|ACOT9_uc004dar.3_Frame_Shift_Ins_p.F247fs	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN	Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	307					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AGATCCGATTGAAAATGTTCCG	0.401													---	36	---	---	97	---					
POU3F4	5456	broad.mit.edu	37	X	82764415	82764418	+	Frame_Shift_Del	DEL	CTGA	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:82764415_82764418delCTGA	uc004eeg.2	+	0	1147_1150	c.1083_1086delCTGA	c.(1081-1086)ctctgafs	p.L361fs		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	361					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCCATGATCTCTGACTGGAGGAAG	0.485													---	5	---	---	12	---					
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:107977802_107977803insC	uc004eoc.2	-	0	1805_1806	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													---	566	---	---	8	---					
SLC6A14	11254	broad.mit.edu	37	X	115582769	115582770	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:115582769_115582770insT	uc004eqi.3	+	7	1224_1225	c.1093_1094insT	c.(1093-1095)attfs	p.I365fs		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	365					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGGATTTGCTATTTTTTCTATA	0.332													---	50	---	---	157	---					
USP26	83844	broad.mit.edu	37	X	132161205	132161205	+	Frame_Shift_Del	DEL	A	-	-	rs61758857		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:132161205delA	uc011mvf.2	-	0	1096	c.1044delT	c.(1042-1044)tttfs	p.F348fs	USP26_uc010nrm.1_Frame_Shift_Del_p.F348fs	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	348					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.F348fs*7(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AGGTATCTTTAAAAAAAAGTA	0.388													---	37	---	---	84	---					
ATP11C	286410	broad.mit.edu	37	X	138869332	138869334	+	Splice_Site	DEL	TCT	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:138869332_138869334delTCT	uc004faz.3	-	15	1700	c.1601_splice	c.e15+1	p.E534_splice	ATP11C_uc004fay.3_Splice_Site|ATP11C_uc004fba.3_Splice_Site_p.E534_splice	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	534					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGCTACTTACTCTTCTATTTCTT	0.345													---	14	---	---	28	---					
FAM50A	9130	broad.mit.edu	37	X	153678435	153678437	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:153678435_153678437delGGA	uc004fll.4	+	10	998_1000	c.888_890delGGA	c.(886-891)gtggag>gtg	p.E297del		NM_004699	NP_004690	Q14320	FA50A_HUMAN	Homo sapiens family with sequence similarity 50, member A (FAM50A), mRNA.	297					spermatogenesis	nucleus		p.E297*(2)		breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCCACTGTGGAGAAGGATGAG	0.616													---	63	---	---	93	---					
