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
NISCH	11188	broad.mit.edu	37	3	52526404	52526404	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:52526404C>T	uc003ded.4	+	20	4555	c.4421C>T	c.(4420-4422)cCc>cTc	p.P1474L	NISCH_uc003dee.4_Missense_Mutation_p.P963L|NISCH_uc003deg.1_Intron|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1474					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GTGTTTGTCCCCAGTGCTGAG	0.652000														68			33		0	0	0.0024448	0	0
EDIL3	10085	broad.mit.edu	37	5	83362376	83362376	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:83362376G>A	uc003kio.1	-	6	1120	c.701C>T	c.(700-702)gCc>gTc	p.A234V	EDIL3_uc003kip.1_Missense_Mutation_p.A224V|EDIL3_uc011ctt.1_Missense_Mutation_p.A11V	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	234	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AATCCTCTTGGCTCCTTGGGT	0.373000														42			24		0	0	0.000586117	0	0
DPPA2	151871	broad.mit.edu	37	3	109027921	109027921	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:109027921G>A	uc003dxo.3	-	4	595	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	116	SAP.					nucleus	nucleic acid binding	p.I116I(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATAAACTTCGATTTTCTTAG	0.408000														98			47		0	0	0.000781405	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48565258	48565258	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:48565258G>C	uc010xzd.2	-	13	1621	c.1284C>G	c.(1282-1284)ttC>ttG	p.F428L	PLA2G4C_uc002phw.3_Missense_Mutation_p.F353L|PLA2G4C_uc010elr.3_Missense_Mutation_p.F418L|PLA2G4C_uc002phx.3_Missense_Mutation_p.F418L	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	418	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CGATTACCTCGAAAGGATCTC	0.627000														43			52		0	0	0.000781405	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17191054	17191054	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:17191054G>A	uc001mmq.4	-	0	300	c.235C>T	c.(235-237)Cct>Tct	p.P79S	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Missense_Mutation_p.P79S|PIK3C2A_uc009ygv.1_Missense_Mutation_p.P79S	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	79	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TCTGATTCAGGAAACACCATG	0.393000														95			37		0	0	0.000692331	0	0
A1CF	29974	broad.mit.edu	37	10	52603882	52603882	+	Splice_Site	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:52603882C>T	uc001jjj.3	-	4	288	c.100_splice	c.e4-1	p.E34_splice	A1CF_uc010qho.2_Splice_Site_p.E42_splice|A1CF_uc010qhn.2_Splice_Site_p.E42_splice|A1CF_uc009xov.3_Splice_Site_p.E34_splice|A1CF_uc001jji.3_Splice_Site_p.E34_splice|A1CF_uc001jjh.3_Splice_Site_p.E42_splice|A1CF_uc001jjk.1_Splice_Site_p.E34_splice	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	34					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E42K(2)|p.E34K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGTCCATTTTCCTGCAAATCC	0.413000														45			28		0	0	0.00209593	0	0
DIEXF	27042	broad.mit.edu	37	1	210001462	210001462	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:210001462A>T	uc001hhr.2	+	0	151	c.54A>T	c.(52-54)aaA>aaT	p.K18N	DIEXF_uc009xcu.2_5'UTR	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.	18					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCCTAACTAAAAAGCAGAAGA	0.547000											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			24		0	0	0.000878237	0	0
CNOT6	57472	broad.mit.edu	37	5	179994990	179994990	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:179994990G>A	uc003mlx.3	+	8	1363	c.1014G>A	c.(1012-1014)tcG>tcA	p.S338S	CNOT6_uc010jld.3_Silent_p.S338S|CNOT6_uc010jle.3_Silent_p.S333S	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	338					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GGAAGGAATCGATTGAAATGC	0.413000														41			19		0	0	0.000586117	0	0
PHKA1	5255	broad.mit.edu	37	X	71870282	71870282	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrX:71870282G>A	uc004eax.4	-	12	1583	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C	PHKA1_uc004eay.4_Missense_Mutation_p.R428C|PHKA1_uc011mqi.2_Missense_Mutation_p.R428C	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	428					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GAAAACCTGCGATTCAGGGGA	0.383000														10			13		0	0	0.000422831	0	0
RASSF3	283349	broad.mit.edu	37	12	65088620	65088621	+	Silent	DNP	CC	TT	TT			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:65088620_65088621CC>TT	uc001ssd.3	+	4	765_766	c.645_646CC>TT	c.(643-648)aacctg>aaTTtg	p.215_216NL>NL	RASSF3_uc009zqn.3_Non-coding_Transcript|RASSF3_uc001sse.3_Silent_p.145_146NL>NL	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 3 (RASSF3), transcript variant 1, mRNA.	215	SARAH.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		AGCTGCAGAACCTGAAGAGGCG	0.540000														15			18		0	0	6.4e-05	0	0
KCNU1	157855	broad.mit.edu	37	8	36673164	36673164	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:36673164G>A	uc010lvw.3	+	8	1041	c.954G>A	c.(952-954)aaG>aaA	p.K318K	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	318						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTGCTAACAAGAGGAAATACA	0.299000														22			24		0	0	0.000878237	0	0
PRSS16	10279	broad.mit.edu	37	6	27216928	27216928	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:27216928G>A	uc003nja.3	+	3	402	c.387G>A	c.(385-387)ctG>ctA	p.L129L	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Silent_p.L19L|PRSS16_uc010jqr.1_Silent_p.L19L|PRSS16_uc003njd.3_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	129					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGATAAGCCTGGAACACAGAT	0.597000														50			27		0	0	0.00106085	0	0
OR1F1	4992	broad.mit.edu	37	16	3254944	3254944	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr16:3254944G>A	uc010uwu.2	+	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TCCACAAAGGGAAGGTGGAAA	0.512000														128			55		0	0	0.000781405	0	0
ALOX5	240	broad.mit.edu	37	10	45878120	45878120	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:45878120G>A	uc001jce.3	+	1	439	c.340G>A	c.(340-342)Gat>Aat	p.D114N	ALOX5_uc009xmt.3_Missense_Mutation_p.D114N|ALOX5_uc010qfg.2_Missense_Mutation_p.D114N|ALOX5_uc021ppr.1_Missense_Mutation_p.D114N	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	114	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TGTCCTGAGGGATGGACGCGG	0.582000														13			4		0	0	0.00024832	0	0
DACH1	1602	broad.mit.edu	37	13	72063185	72063185	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr13:72063185G>A	uc021rkj.1	-	6	2095	c.1672C>T	c.(1672-1674)Cct>Tct	p.P558S	DACH1_uc021rkk.1_Missense_Mutation_p.P410S|DACH1_uc021rkl.1_Missense_Mutation_p.P356S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	608					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AACAGAAAAGGAGATGGAAAA	0.478000														117			49		0	0	0.000781405	0	0
LRRC19	64922	broad.mit.edu	37	9	26995832	26995832	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:26995832C>T	uc003zqh.3	-	4	911	c.800G>A	c.(799-801)gGa>gAa	p.G267E	IFT74_uc010mja.3_Intron|IFT74_uc010mjb.3_Intron|IFT74_uc003zqf.4_Intron|IFT74_uc003zqg.4_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	Homo sapiens leucine rich repeat containing 19 (LRRC19), mRNA.	267						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		CCAACTTTTTCCAAGAGGTTC	0.338000														26			11		0	0	0.000978159	0	0
CACNA1B	774	broad.mit.edu	37	9	140972591	140972591	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:140972591G>A	uc004cog.3	+	34	5114	c.4969G>A	c.(4969-4971)Gag>Aag	p.E1657K	CACNA1B_uc022bqn.1_Missense_Mutation_p.E1657K|CACNA1B_uc004coi.3_Missense_Mutation_p.E871K|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Missense_Mutation_p.E14K	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1659					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.E1659*(2)|p.E23*(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCCTGGCACGAGATCATGCT	0.607000														16			10		0	0	0.000673444	0	0
PDE1C	5137	broad.mit.edu	37	7	31887623	31887623	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:31887623C>A	uc003tcm.2	-	8	1400	c.939G>T	c.(937-939)gaG>gaT	p.E313D	PDE1C_uc003tcn.1_Missense_Mutation_p.E313D|PDE1C_uc003tco.2_Missense_Mutation_p.E373D|PDE1C_uc003tcr.3_Missense_Mutation_p.E313D|PDE1C_uc003tcs.3_Missense_Mutation_p.E313D	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	313	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TATTCATTTCCTCGTCATCTT	0.413000														64			35		3.11337e-16	1.75973e-15	0.00283554	1	0
TEX13A	56157	broad.mit.edu	37	X	104464200	104464200	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrX:104464200G>A	uc004ema.3	-	3	782	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Silent_p.S226S	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	226						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCCACGTGGGGGAACTGGGTC	0.612000														8			12		0	0	0.000978159	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118335	118335	+	RNA	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrGL000205.1:118335G>A	uc002kgk.4	+	0		c.1713G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGGCTCCAGGAGGACTTCTG	0.542000														28			4		0	0	0.000602214	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54596844	54596844	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:54596844G>A	uc003dhf.3	+	5	610	c.562G>A	c.(562-564)Ggg>Agg	p.G188R	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.G94R|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	188						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AATTGTCAATGGGGTTTATTG	0.408000														17			8		0	0	0.000157383	0	0
LCE1C	353133	broad.mit.edu	37	1	152777800	152777800	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:152777800C>T	uc021ozi.1	-	0	155	c.155G>A	c.(154-156)tGt>tAt	p.C52Y	LCE1C_uc001fap.1_Missense_Mutation_p.C52Y	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	Homo sapiens late cornified envelope 1C (LCE1C), mRNA.	52	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	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)			GCTGGAGCCACAGCAGCCTCC	0.657000														50			20		0	0	0.00188189	0	0
VAV3	10451	broad.mit.edu	37	1	108315413	108315413	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:108315413C>T	uc001dvk.1	-	4	553	c.499G>A	c.(499-501)Gat>Aat	p.D167N	VAV3_uc010ouw.1_Missense_Mutation_p.D167N|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.D167N	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	167					B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CCACCTTCATCTTCCCCATAA	0.358000														49			30		0	0	0.000692331	0	0
HERC2	8924	broad.mit.edu	37	15	28408339	28408339	+	Silent	SNP	C	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr15:28408339C>A	uc001zbj.3	-	68	10753	c.10647G>T	c.(10645-10647)gtG>gtT	p.V3549V		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3549					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAGGTCTACCACCACACGAG	0.597000														47			23		3.5997e-14	2.02483e-13	0.00229938	1	0
KCNC2	3747	broad.mit.edu	37	12	75445031	75445031	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:75445031C>T	uc001sxg.1	-	2	1298	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	KCNC2_uc009zry.3_Missense_Mutation_p.E252K|KCNC2_uc001sxe.3_Missense_Mutation_p.E252K|KCNC2_uc001sxf.3_Missense_Mutation_p.E252K|KCNC2_uc010stw.1_Missense_Mutation_p.E252K	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	252					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TTGAAAGCTTCATGTGTTTCC	0.343000														13			13		0	0	0.00136819	0	0
FAM214A	56204	broad.mit.edu	37	15	52970206	52970206	+	Silent	SNP	G	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr15:52970206G>T	uc002acg.4	-	1	166	c.13C>A	c.(13-15)Cga>Aga	p.R5R	FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_5'UTR	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	5																	CATTTACCTCGGTCTGGCTTC	0.453000														51			25		6.38683e-12	3.5754e-11	0.001512	1	0
TSPEAR	54084	broad.mit.edu	37	21	45929254	45929254	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr21:45929254C>T	uc002zfe.1	-	9	1648	c.1582G>A	c.(1582-1584)Gac>Aac	p.D528N	TSPEAR_uc010gpv.1_Missense_Mutation_p.D460N	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	528					cell adhesion	extracellular region	structural molecule activity	p.D528N(4)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACCTCCCAGTCTGCAGCACCG	0.602000														13			6		0	0	0.000157383	0	0
CARD11	84433	broad.mit.edu	37	7	2979560	2979560	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:2979560G>A	uc003smv.3	-	5	1021	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	229					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTAGCTGATCGATCTGAAATA	0.498000			Mis		DLBCL									54			51		0	0	0.000781405	0	0
WDHD1	11169	broad.mit.edu	37	14	55475343	55475343	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr14:55475343G>A	uc001xbm.2	-	4	526	c.436C>T	c.(436-438)Cct>Tct	p.P146S	WDHD1_uc001xbn.2_Missense_Mutation_p.P23S	NM_007086	NP_009017	O75717	WDHD1_HUMAN	Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.	146						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATGTCCTTAGGATCAAAGGAA	0.318000														76			35		0	0	0.00170553	0	0
FBXO10	26267	broad.mit.edu	37	9	37541670	37541670	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:37541670G>A	uc004aac.3	-	1	224	c.144C>T	c.(142-144)gcC>gcT	p.A48A	FBXO10_uc004aab.3_Silent_p.A32A|FBXO10_uc004aad.3_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	32	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GTTCATACCAGGCCCTGCATA	0.627000														26			8		0	0	0.000274275	0	0
OR11A1	26531	broad.mit.edu	37	6	29395290	29395290	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:29395290C>T	uc003nmg.3	-	0	220	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TCAGCATATTCCCTATGATGA	0.403000														39			16		0	0	0.000422831	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538044	27538044	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:27538044C>T	uc001its.2	-	0	3192	c.1349G>A	c.(1348-1350)cGa>cAa	p.R450Q						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		AGTCAGTTTTCGATGCAGAGT	0.498000														85			56		0	0	0.000781405	0	0
IGHE	3497	broad.mit.edu	37	14	106068010	106068010	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr14:106068010G>A	uc001yrw.1	-	1	110	c.98C>T	c.(97-99)cCc>cTc	p.P33L	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_5'UTR|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		GGCATTGGAGGGAATGTTTTT	0.627000														11			3		0	0	0.000602214	0	0
CTNNA3	29119	broad.mit.edu	37	10	67680226	67680226	+	Missense_Mutation	SNP	C	T	T	rs138237676		TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:67680226C>T	uc009xpn.1	-	17	2673	c.2550G>A	c.(2548-2550)atG>atA	p.M850I	CTNNA3_uc001jmw.2_Missense_Mutation_p.M850I	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	850					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAGGAGCCTTCATTCTCCACA	0.478000														73			44		0	0	0.000781405	0	0
POLI	11201	broad.mit.edu	37	18	51810326	51810326	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr18:51810326C>T	uc002lfj.4	+	6	1078	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	POLI_uc010xds.2_Missense_Mutation_p.S258L|POLI_uc002lfk.4_Missense_Mutation_p.S234L|POLI_uc010dpg.3_5'UTR	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	337				S -> T (in Ref. 4; CAB66605).	DNA repair|DNA replication	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAAAAATGTTCATCTGAAGTT	0.284000								DNA polymerases (catalytic subunits)						17			6		0	0	0.00198382	0	0
CSMD2	114784	broad.mit.edu	37	1	34180213	34180213	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:34180213C>T	uc001bxm.1	-	20	3557	c.3380G>A	c.(3379-3381)tGg>tAg	p.W1127*	CSMD2_uc001bxn.1_Nonsense_Mutation_p.W1087*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1087	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)				AGGCGAGCTCCACAGGCGCCG	0.592000														139			54		0	0	0.000781405	0	0
ITGAE	3682	broad.mit.edu	37	17	3656589	3656589	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:3656589C>T	uc002fwo.4	-	13	1762	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	555					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCCACCTGCTCGCTGAGACGG	0.572000														12			4		0	0	0.00024832	0	0
AHR	196	broad.mit.edu	37	7	17379647	17379647	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:17379647C>T	uc011jxz.1	+	9	2811	c.2198C>T	c.(2197-2199)tCt>tTt	p.S733F		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	733					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CCCACTACTTCTAGTTTAGAA	0.393000														62			35		0	0	0.00283554	0	0
CDAN1	146059	broad.mit.edu	37	15	43028535	43028535	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr15:43028535G>A	uc001zql.3	-	1	651	c.534C>T	c.(532-534)ttC>ttT	p.F178F	CDAN1_uc001zqk.3_5'Flank|CDAN1_uc010bcx.1_5'Flank|BC037861_uc001zqm.3_5'Flank	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	178						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTACGGGAGGGAACTCCTCCA	0.667000														14			11		0	0	0.000978159	0	0
DTNA	1837	broad.mit.edu	37	18	32398137	32398137	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr18:32398137C>T	uc010dmn.1	+	6	720	c.719C>T	c.(718-720)cCg>cTg	p.P240L	DTNA_uc002kxu.2_Missense_Mutation_p.P240L|DTNA_uc010xbx.2_Intron|DTNA_uc002kxv.4_Missense_Mutation_p.P240L|DTNA_uc002kxw.2_Missense_Mutation_p.P240L|DTNA_uc002kxx.2_Missense_Mutation_p.P240L|DTNA_uc002kxz.2_Missense_Mutation_p.P240L|DTNA_uc002kxy.2_Missense_Mutation_p.P240L|DTNA_uc010dmj.3_Missense_Mutation_p.P240L|DTNA_uc002kyb.4_Missense_Mutation_p.P240L|DTNA_uc010dml.3_Missense_Mutation_p.P240L|DTNA_uc010dmm.3_Missense_Mutation_p.P240L|DTNA_uc010xby.1_5'UTR|DTNA_uc021uiq.1_5'UTR|DTNA_uc021uir.1_5'UTR|DTNA_uc002kyd.4_5'Flank|DTNA_uc010dmo.3_5'Flank|DTNA_uc002kye.3_5'Flank|DTNA_uc010xca.2_5'Flank|DTNA_uc010xbz.2_5'Flank	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	240	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GTCTTCCATCCGGTTGAGTGT	0.448000														64			24		0	0	0.000878237	0	0
C12orf77	196415	broad.mit.edu	37	12	25149189	25149189	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:25149189G>A	uc001rgf.3	-	1	293	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.	30										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						AGTGGATCCAGAATTTGAATA	0.438000														73			20		0	0	0.00188189	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305619	39305619	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:39305619G>T	uc002hwb.3	-	0	436	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	139	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament		p.S134Y(4)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ttcacagcaagaggggtggca	0.637000														15			4		0.00024832	0.00137694	0.00024832	1	0
IFNAR2	3455	broad.mit.edu	37	21	34617374	34617374	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr21:34617374C>T	uc002yrd.3	+	3	544	c.216C>T	c.(214-216)atC>atT	p.I72I	IFNAR2_uc002yrb.3_Silent_p.I72I|IFNAR2_uc002yrc.3_Silent_p.I72I|IFNAR2_uc002yre.3_Silent_p.I72I|IFNAR2_uc002yrf.3_Silent_p.I72I	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	72					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TGTATACAATCATGAGGTTGG	0.373000														49			25		0	0	0.001512	0	0
TKTL2	84076	broad.mit.edu	37	4	164394478	164394478	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr4:164394478C>T	uc003iqp.4	-	0	570	c.409G>A	c.(409-411)Gct>Act	p.A137T		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	137						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAGTATAAGCCATTCCACAT	0.537000														63			22		0	0	0.00047179	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566726	45566726	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr18:45566726G>A	uc010dnv.3	-	2	1255	c.819C>T	c.(817-819)ttC>ttT	p.F273F	ZBTB7C_uc002ldb.3_Silent_p.F251F|ZBTB7C_uc010dnu.3_Silent_p.F260F|ZBTB7C_uc010dnw.3_Silent_p.F251F|ZBTB7C_uc010dnx.1_Silent_p.F251F|ZBTB7C_uc010dny.1_Silent_p.F251F|ZBTB7C_uc010dnz.1_Silent_p.F273F|ZBTB7C_uc010doi.1_Silent_p.F251F|ZBTB7C_uc010doj.1_Silent_p.F260F|ZBTB7C_uc010dok.1_Silent_p.F300F|ZBTB7C_uc010dol.1_Silent_p.F260F|ZBTB7C_uc010doa.1_Silent_p.F273F|ZBTB7C_uc010dob.1_Silent_p.F251F|ZBTB7C_uc010doc.1_Silent_p.F260F|ZBTB7C_uc010dod.1_Silent_p.F273F|ZBTB7C_uc010doe.1_Silent_p.F251F|ZBTB7C_uc010dof.1_Silent_p.F251F|ZBTB7C_uc010dog.1_Silent_p.F251F|ZBTB7C_uc010doh.1_Silent_p.F260F|ZBTB7C_uc010dom.1_Silent_p.F260F|ZBTB7C_uc010don.1_Silent_p.F259F|ZBTB7C_uc010dop.1_Silent_p.F251F|ZBTB7C_uc010doq.1_Silent_p.F260F|ZBTB7C_uc010dor.1_Silent_p.F273F|ZBTB7C_uc010dos.1_Silent_p.F251F|ZBTB7C_uc010dot.1_Silent_p.F251F|ZBTB7C_uc010doo.1_Silent_p.F251F|ZBTB7C_uc010dou.1_Silent_p.F260F	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	251						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGTCCGGGGCGAATGGAGACA	0.597000														20			13		0	0	0.00185496	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284706	130284707	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:130284706_130284707GG>AA	uc001qgg.4	-	4	1643_1644	c.1285_1286CC>TT	c.(1285-1287)cct>TTt	p.P429F	ADAMTS8_uc001qgf.3_5'Flank	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	429	Peptidase M12B.			YLTELLDGGHGDCLLDAPAAALPLPTGL -> FSGCHLQGW IHFKYLCKCVSELKCDLMP (in Ref. 3; AAF25806).	negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGCCGCAGCAGGGGCATCCAGG	0.644000														16			8		0	0	6.4e-05	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443553	5443553	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:5443553C>T	uc010qzd.2	+	0	213	c.123C>T	c.(121-123)atC>atT	p.I41I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCTCCATCATGGGCAATA	0.547000														110			37		0	0	0.00111076	0	0
FASLG	356	broad.mit.edu	37	1	172628641	172628641	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:172628641G>A	uc001gis.3	+	0	457	c.300G>A	c.(298-300)ggG>ggA	p.G100G	FASLG_uc001git.3_Silent_p.G100G	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	100					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TGGGCCTGGGGATGTTTCAGC	0.572000														21			7		0	0	0.000274275	0	0
ARID2	196528	broad.mit.edu	37	12	46123826	46123827	+	Splice_Site	DNP	GG	AA	AA			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:46123826_46123827GG>AA	uc001ros.1	+	2	93	c.93_splice	c.e2-1	p.G31_splice	ARID2_uc001ror.3_Splice_Site_p.G31_splice|LOC400027_uc001roq.3_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	31	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTCTCCCGCAGGTCGCCTTTTA	0.658000			"""N, S, F"""		hepatocellular carcinoma									6			10		0	0	6.4e-05	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450450	105450450	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrX:105450450G>A	uc022cca.1	+	0	1025	c.1025G>A	c.(1024-1026)aGa>aAa	p.R342K	MUM1L1_uc004emg.2_Missense_Mutation_p.R342K|MUM1L1_uc004emf.2_Missense_Mutation_p.R342K	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	342										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATTTTCAGAGACTGGATTTT	0.413000														7			3		0	0	6.4e-05	0	0
EPHA7	2045	broad.mit.edu	37	6	94124440	94124440	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:94124440A>G	uc003poe.3	-	1	384	c.143T>C	c.(142-144)aTt>aCt	p.I48T	EPHA7_uc003pof.3_Missense_Mutation_p.I48T|EPHA7_uc011eac.2_Missense_Mutation_p.I48T|EPHA7_uc003pog.4_Missense_Mutation_p.I48T	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	48						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGGAGAGGAAATCCACTCCAA	0.353000														41			20		0	0	0.00229938	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449578	85449578	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:85449578G>A	uc001tac.3	+	7	1118	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	LRRIQ1_uc021rbo.1_Missense_Mutation_p.R214Q|LRRIQ1_uc001taa.1_Missense_Mutation_p.R311Q	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	336	Glu-rich.							p.R336Q(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		gaagaaaatcgaaaaagatta	0.328000														6			11		0	0	0.000673444	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481316	142481317	+	Missense_Mutation	DNP	TG	CA	CA	rs140068138	by1000genomes	TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:142481316_142481317TG>CA	uc011ksq.2	+	2	473_474	c.390_391TG>CA	c.(388-393)actgcc>acCAcc	p.A131T	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CTCTGCCCACTGCCCCTCCAGC	0.550000														69			11		0	0	6.4e-05	0	0
C10orf96	374355	broad.mit.edu	37	10	118084575	118084575	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:118084575G>A	uc001lck.3	+	1	303	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.	18								p.A17A(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		GCATCAGGCGGAGGAGAGTCG	0.517000														33			12		0	0	0.000422831	0	0
SCAMP5	192683	broad.mit.edu	37	15	75309008	75309008	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr15:75309008T>G	uc002azn.2	+	3	398	c.211T>G	c.(211-213)Ttt>Gtt	p.F71V	SCAMP5_uc002azl.2_Missense_Mutation_p.F71V|SCAMP5_uc002azm.2_Missense_Mutation_p.F71V|SCAMP5_uc002azk.2_Missense_Mutation_p.F71V|SCAMP5_uc010uly.2_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	71					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						AGCCACCAACTTTGGCCTCGC	0.597000														57			19		0	0	0.000958276	0	0
KIAA2026	158358	broad.mit.edu	37	9	5922526	5922527	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:5922526_5922527GG>AT	uc003zjq.4	-	7	3685_3686	c.3469_3470CC>AT	c.(3469-3471)cca>ATa	p.P1157I	KIAA2026_uc010mht.3_Missense_Mutation_p.P332I	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	1157										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AACAGTTCCTGGTGAGTTGACA	0.376000														61			18		0	0	6.4e-05	0	0
LOC644669	644669	broad.mit.edu	37	18	15316743	15316743	+	RNA	SNP	A	G	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr18:15316743A>G	uc002ktd.1	-	4		c.291T>C								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		AGCCTCATCAAGTGTTCCTTC	0.428000														10			3		0	0	0.00116845	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545930	138545930	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:138545930C>T	uc011kql.2	-	15	5251	c.5202G>A	c.(5200-5202)tgG>tgA	p.W1734*	KIAA1549_uc011kqi.2_Nonsense_Mutation_p.W518*|KIAA1549_uc011kqk.2_Nonsense_Mutation_p.W518*|KIAA1549_uc011kqj.2_Nonsense_Mutation_p.W1734*	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1734						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGAAGGACCCCCACTGGGTGG	0.617000			O	BRAF	pilocytic astrocytoma									37			34		0	0	0.00170553	0	0
PRMT1	3276	broad.mit.edu	37	19	50189399	50189399	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:50189399C>G	uc010enf.2	+	8	938	c.809C>G	c.(808-810)cCg>cGg	p.P270R	PRMT1_uc021uxu.1_Missense_Mutation_p.P246R|PRMT1_uc002ppe.3_Missense_Mutation_p.P252R|PRMT1_uc021uxv.1_Missense_Mutation_p.P184R|PRMT1_uc010yba.2_Non-coding_Transcript|PRMT1_uc010ybb.2_5'Flank|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	Homo sapiens protein arginine methyltransferase 1 (PRMT1), transcript variant 1, mRNA.	251						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		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;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TTCACCTCCCCGTTCTGCCTG	0.592000														17			11		0	0	0.00244969	0	0
DCTN1	1639	broad.mit.edu	37	2	74594835	74594835	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:74594835G>A	uc002skx.3	-	17	2490	c.2172C>T	c.(2170-2172)atC>atT	p.I724I	DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Silent_p.I590I|DCTN1_uc002sku.3_Silent_p.I590I|DCTN1_uc002skw.2_Silent_p.I717I|DCTN1_uc010ffd.3_Silent_p.I704I|DCTN1_uc002sky.3_Silent_p.I687I	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	724					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						GATAGTACTTGATGGCCTTGG	0.498000														23			13		0	0	0.000308642	0	0
CFHR1	3078	broad.mit.edu	37	1	196801077	196801077	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:196801077G>A	uc001gtn.3	+	5	1055	c.941G>A	c.(940-942)cGa>cAa	p.R314Q	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.R218Q	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	314	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CACACATTGCGAACAACATGT	0.383000														41			14		0	0	0.000422831	0	0
SORCS3	22986	broad.mit.edu	37	10	107007001	107007001	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:107007001C>T	uc001kyi.1	+	21	3244	c.3017C>T	c.(3016-3018)tCa>tTa	p.S1006L	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1006						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGCTTTTATCATTCTCTCCT	0.458000														22			15		0	0	0.000566183	0	0
MMP27	64066	broad.mit.edu	37	11	102575479	102575479	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:102575479C>T	uc001phd.1	-	1	153	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	44					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CCTTCTATTTCAAGAGAGTAG	0.373000														19			6		0	0	0.00116845	0	0
PLXNA4	91584	broad.mit.edu	37	7	131817824	131817824	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:131817824C>T	uc003vra.4	-	30	5802	c.5573G>A	c.(5572-5574)gGc>gAc	p.G1858D	PLXNA4_uc003vqz.4_Missense_Mutation_p.G143D	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1858						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTGTATTTGCCCACATAGGA	0.522000														69			29		0	0	0.00209593	0	0
ZNF233	353355	broad.mit.edu	37	19	44778746	44778746	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:44778746G>A	uc021uvi.1	+	4	2039	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Missense_Mutation_p.E460K|ZNF233_uc002oyz.2_Missense_Mutation_p.E645K	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CCATACTGGAGAGAAACCATA	0.428000														19			11		0	0	0.000978159	0	0
FBXO40	51725	broad.mit.edu	37	3	121340500	121340500	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:121340500C>T	uc003eeg.2	+	2	434	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	75					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TGCCCTCTGTCCATGTCCCGC	0.597000														42			11		0	0	0.000978159	0	0
PHF21B	112885	broad.mit.edu	37	22	45312300	45312300	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr22:45312300G>A	uc003bfn.3	-	3	575	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	PHF21B_uc011aqk.2_Missense_Mutation_p.P130S|PHF21B_uc003bfm.3_5'UTR|PHF21B_uc011aql.2_Missense_Mutation_p.P142S|PHF21B_uc011aqm.1_Missense_Mutation_p.P130S	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	142							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTGCTCAGCGGAGAGGCGAGG	0.726000														19			16		0	0	0.000422831	0	0
MEF2D	4209	broad.mit.edu	37	1	156444933	156444933	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:156444933G>A	uc001fpc.3	-	8	1363	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	MEF2D_uc001fpb.3_Missense_Mutation_p.P318S|MEF2D_uc001fpd.3_Missense_Mutation_p.P318S|MEF2D_uc009wsa.3_Intron|MEF2D_uc001fpe.1_Missense_Mutation_p.P325S	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	325					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAAGAGAAGGGGAGGCCCTGG	0.562000														54			29		0	0	0.001512	0	0
TTN	7273	broad.mit.edu	37	2	179597628	179597628	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:179597628C>T	uc021vsy.1	-	51	12768	c.12543G>A	c.(12541-12543)ggG>ggA	p.G4181G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G842G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5108							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)			AAGTGAAATTCCCTGCATCAT	0.453000														23			7		0	0	0.000157383	0	0
AKAP11	11215	broad.mit.edu	37	13	42875110	42875110	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr13:42875110C>T	uc001uys.2	+	7	2403	c.2228C>T	c.(2227-2229)tCc>tTc	p.S743F		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	743					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTCACGTTTTCCCCTTCTTTT	0.418000														40			11		0	0	0.00185496	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163623	12163623	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:12163623G>A	uc003nac.3	+	8	7265	c.7086G>A	c.(7084-7086)aaG>aaA	p.K2362K	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2362					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGAACAGAAGCAGCAAATAA	0.547000														84			39		0	0	0.00111076	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215763	20215763	+	Silent	SNP	T	G	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr14:20215763T>G	uc010tkt.2	+	0	177	c.177T>G	c.(175-177)ccT>ccG	p.P59P		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P59L(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCAATCTCCTATGTATTATT	0.413000														183			31		0	0	0.00283554	0	0
NFE2	4778	broad.mit.edu	37	12	54686799	54686799	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:54686799C>T	uc009znk.3	-	1	991	c.481G>A	c.(481-483)Gag>Aag	p.E161K	NFE2_uc001sfq.3_Missense_Mutation_p.E161K|NFE2_uc001sfr.4_Missense_Mutation_p.E161K|NFE2_uc009znl.3_Missense_Mutation_p.E161K	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	161	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TCTGTCCCCTCCAGCTCAAGA	0.562000														38			31		0	0	0.00178596	0	0
HCLS1	3059	broad.mit.edu	37	3	121363721	121363722	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:121363721_121363722CC>GT	uc003eeh.4	-	4	467_468	c.342_343GG>AC	c.(340-345)acggat>acACat	p.D115H	HCLS1_uc011bjj.2_Missense_Mutation_p.D115H|HCLS1_uc011bjk.1_Non-coding_Transcript|HCLS1_uc011bjl.1_Missense_Mutation_p.D115H	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	115					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TTGGCAGCATCCGTCTGAGAAG	0.515000														55			31		0	0	6.4e-05	0	0
POLI	11201	broad.mit.edu	37	18	51810329	51810329	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr18:51810329C>T	uc002lfj.4	+	6	1081	c.1013C>T	c.(1012-1014)tCt>tTt	p.S338F	POLI_uc010xds.2_Missense_Mutation_p.S259F|POLI_uc002lfk.4_Missense_Mutation_p.S235F|POLI_uc010dpg.3_5'UTR	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	338					DNA repair|DNA replication	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAATGTTCATCTGAAGTTGAA	0.284000								DNA polymerases (catalytic subunits)						15			7		0	0	0.000157383	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100591818	100591818	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr15:100591818G>A	uc002bvv.1	-	16	2493	c.2414C>T	c.(2413-2415)aCc>aTc	p.T805I		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	805	TSP type-1 2.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCCGCTGTGGGTCCAGATGAA	0.517000														110			47		0	0	0.000781405	0	0
FAM50B	26240	broad.mit.edu	37	6	3850386	3850386	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:3850386A>G	uc003mvu.3	+	1	453	c.341A>G	c.(340-342)aAg>aGg	p.K114R	FAM50B_uc021ykt.1_Missense_Mutation_p.K114R	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	114						nucleus		p.R113R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				cGCGAGCGCAAGCGTAAGATC	0.701000														23			3		0	0	0.00024832	0	0
PRDM5	11107	broad.mit.edu	37	4	121742401	121742401	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr4:121742401C>T	uc003idn.3	-	3	650	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	PRDM5_uc003ido.3_Missense_Mutation_p.E134K|PRDM5_uc010ine.3_Missense_Mutation_p.E134K|PRDM5_uc010inf.3_Missense_Mutation_p.E134K	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	134					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATTTGCTGTTCTTCCTCCTCA	0.408000														91			33		0	0	0.00283554	0	0
HS3ST6	64711	broad.mit.edu	37	16	1962005	1962005	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr16:1962005G>A	uc002cnf.3	-	1	522	c.522C>T	c.(520-522)cgC>cgT	p.R174R	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	174										endometrium(2)|lung(2)	4						AGGCCAGGGCGCGGAAGCTGG	0.711000														4			8		0	0	0.000274275	0	0
GRM6	2916	broad.mit.edu	37	5	178409926	178409926	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:178409926G>A	uc003mjr.3	-	8	2600	c.2421C>T	c.(2419-2421)gcC>gcT	p.A807A	GRM6_uc003mjq.3_Silent_p.A210A	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	807			A -> V (in dbSNP:rs17078874).		detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAGCTGACTGGGCAGTGCCAA	0.547000														34			17		0	0	0.00188189	0	0
LPA	4018	broad.mit.edu	37	6	161026196	161026196	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:161026196C>T	uc003qtl.3	-	18	2947	c.2827G>A	c.(2827-2829)Gga>Aga	p.G943R		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3451	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.H942H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTCCATTTCCGTGGTAGCAC	0.463000														250			105		0	0	0.000781405	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7670356	7670356	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:7670356C>T	uc002mgu.4	+	1	494	c.393C>T	c.(391-393)ccC>ccT	p.P131P	CAMSAP3_uc002mgv.4_Silent_p.P131P	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	131					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GGCACCAGCCCATTCTCATGG	0.687000														7			12		0	0	0.000978159	0	0
DNAH7	56171	broad.mit.edu	37	2	196664189	196664189	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:196664189G>A	uc002utj.4	-	54	10285	c.10184C>T	c.(10183-10185)cCa>cTa	p.P3395L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3395					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCAACATTGGAATAACCTA	0.353000														65			32		0	0	0.00058488	0	0
CSPG4	1464	broad.mit.edu	37	15	75981813	75981813	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr15:75981813G>A	uc002baw.3	-	2	1686	c.1593C>T	c.(1591-1593)ccC>ccT	p.P531P		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	531	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAAGGCATGAGGGCATGGGCA	0.617000														16			13		0	0	0.00136819	0	0
TULP4	56995	broad.mit.edu	37	6	158923932	158923932	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:158923932C>T	uc003qrf.3	+	12	4594	c.3237C>T	c.(3235-3237)gaC>gaT	p.D1079D	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	1079					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCGCCCGCGACCGCACCGACT	0.687000														49			15		0	0	0.00074312	0	0
NMBR	4829	broad.mit.edu	37	6	142397026	142397026	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:142397026A>G	uc003qiu.3	-	2	1073	c.932T>C	c.(931-933)gTt>gCt	p.V311A		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	311					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AAAACTGAGAACCCGGGCAAC	0.443000														25			12		0	0	0.00136819	0	0
CERCAM	51148	broad.mit.edu	37	9	131186760	131186760	+	Silent	SNP	C	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:131186760C>A	uc004buz.4	+	4	1031	c.633C>A	c.(631-633)ccC>ccA	p.P211P	CERCAM_uc004buy.1_Silent_p.P133P|CERCAM_uc010mxz.3_Silent_p.P133P|CERCAM_uc010mya.1_Silent_p.P52P	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	211					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TCCGTGTCCCCATGGTCCACT	0.617000														46			17		1.02788e-11	5.72678e-11	0.000566183	1	0
GRIP2	80852	broad.mit.edu	37	3	14564565	14564565	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:14564565C>T	uc021wtn.1	-	6	799	c.799G>A	c.(799-801)Ggg>Agg	p.G267R	GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	170	PDZ 3.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GACTTGTGCCCATCTTCATGG	0.622000														45			28		0	0	0.00283554	0	0
TTN	7273	broad.mit.edu	37	2	179467243	179467243	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:179467243G>A	uc021vsy.1	-	231	47407	c.47182C>T	c.(47182-47184)Cca>Tca	p.P15728S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P9423S|TTN_uc021vta.1_Missense_Mutation_p.P9356S|TTN_uc021vtb.1_Missense_Mutation_p.P9231S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16655							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)			TCTTTGGCTGGAGGTTTCCAT	0.403000														13			6		0	0	0.00198382	0	0
C8orf74	203076	broad.mit.edu	37	8	10555406	10555406	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:10555406C>T	uc003wtd.1	+	2	568	c.539C>T	c.(538-540)gCc>gTc	p.A180V	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	180										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CAGAAGCGCGCCGACGTGCTG	0.706000														5			6		0	0	0.00116845	0	0
DNAH9	1770	broad.mit.edu	37	17	11711083	11711084	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:11711083_11711084GG>AA	uc002gne.3	+	43	8523_8524	c.8455_8456GG>AA	c.(8455-8457)gga>AAa	p.G2819K	DNAH9_uc010coo.3_Missense_Mutation_p.G2113K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2819	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)		GTCCCCGCGGGGAAATGCTCTG	0.520000														58			6		0	0	6.4e-05	0	0
ZNF384	171017	broad.mit.edu	37	12	6781567	6781567	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:6781567G>A	uc010sfh.2	-	7	1313	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	ZNF384_uc001qqa.3_Intron|ZNF384_uc001qqd.3_Intron	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CTGGCAGTAGGAACAGTTGTA	0.652000			T	"""EWSR1, TAF15 """	ALL									32			15		0	0	0.000308642	0	0
CXorf22	170063	broad.mit.edu	37	X	35993478	35993478	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrX:35993478G>A	uc004ddj.3	+	13	2535	c.2469G>A	c.(2467-2469)tgG>tgA	p.W823*	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	823										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAAAATTTTGGAAGTAGGGAT	0.294000														9			14		0	0	0.00185496	0	0
PTK6	5753	broad.mit.edu	37	20	62161433	62161433	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr20:62161433G>A	uc002yfg.3	-	6	1206	c.1166C>T	c.(1165-1167)cCa>cTa	p.P389L	PTK6_uc011aay.2_Missense_Mutation_p.P288L|PTK6_uc011aaz.1_Missense_Mutation_p.P151L	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	389	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			GACAGTACCTGGGTAGGGCAC	0.637000														16			7		0	0	0.000274275	0	0
GPR116	221395	broad.mit.edu	37	6	46826199	46826199	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:46826199C>T	uc003oyo.3	-	16	3730	c.3441G>A	c.(3439-3441)ctG>ctA	p.L1147L	GPR116_uc011dwj.1_Silent_p.L702L|GPR116_uc011dwk.1_Silent_p.L576L|GPR116_uc003oyp.3_Silent_p.L1005L|GPR116_uc003oyq.3_Silent_p.L1147L|GPR116_uc010jzi.1_Silent_p.L819L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1147					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGGTGGCTCCCAGCGTGATGA	0.562000														27			17		0	0	0.000422831	0	0
NRG1	3084	broad.mit.edu	37	8	32453417	32453417	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:32453417G>A	uc003xiv.2	+	1	689	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	NRG1_uc022ats.1_Missense_Mutation_p.E37K|NRG1_uc003xip.3_Missense_Mutation_p.E273K|NRG1_uc003xir.3_Missense_Mutation_p.E58K|NRG1_uc010lvl.3_Missense_Mutation_p.E58K|NRG1_uc010lvm.3_Missense_Mutation_p.E58K|NRG1_uc010lvn.3_Missense_Mutation_p.E58K|NRG1_uc003xis.3_Missense_Mutation_p.E58K|NRG1_uc011lbf.1_Missense_Mutation_p.E58K|NRG1_uc010lvo.2_Missense_Mutation_p.E58K|NRG1_uc003xiu.2_Missense_Mutation_p.E58K|NRG1_uc003xiw.2_Missense_Mutation_p.E58K|NRG1_uc003xit.2_Missense_Mutation_p.E58K|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.E24K|NRG1_uc010lvq.2_Missense_Mutation_p.E17K	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	58	Ig-like C2-type.				Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTTCGGTGTGAAACCAGTTC	0.383000														41			51		0	0	0.000781405	0	0
XDH	7498	broad.mit.edu	37	2	31606641	31606641	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:31606641G>A	uc002rnv.1	-	9	945	c.866C>T	c.(865-867)tCg>tTg	p.S289L		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	289	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ATGTTCTACCGAATTCAGCTC	0.502000														23			14		0	0	0.000308642	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558309	113558309	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:113558309G>A	uc010ljy.1	-	0	774	c.743C>T	c.(742-744)cCt>cTt	p.P248L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	248					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGTCTGTTAGGAACTTCTTT	0.303000														122			80		0	0	0.000781405	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229045	8229045	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr4:8229045C>T	uc003gkv.4	+	11	1725	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	SH3TC1_uc003gkw.4_Missense_Mutation_p.R466C|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	542							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCTGACTGGGCGCCTGGCACA	0.687000														9			4		0	0	0.00024832	0	0
EFHC2	80258	broad.mit.edu	37	X	44109653	44109653	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrX:44109653G>A	uc004dgb.4	-	4	734	c.645C>T	c.(643-645)tcC>tcT	p.S215S	EFHC2_uc022bvg.1_5'UTR	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	215							calcium ion binding	p.E214K(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GGGTGTCGAGGGATTCGTAGG	0.438000														7			18		0	0	0.00152264	0	0
SREK1	140890	broad.mit.edu	37	5	65473474	65473474	+	Silent	SNP	T	C	C			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:65473474T>C	uc003jun.3	+	10	1833	c.1713T>C	c.(1711-1713)agT>agC	p.S571S	SREK1_uc010iwy.3_Silent_p.S454S|SREK1_uc003juo.3_Silent_p.S455S	NM_001077199	NP_631907	Q8WXA9	SREK1_HUMAN	Homo sapiens splicing regulatory glutamine/lysine-rich protein 1 (SREK1), transcript variant 1, mRNA.	455					RNA splicing|mRNA processing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AGAAGAACAGTACTTCACTTA	0.408000														51			34		0	0	0.00128727	0	0
KCNH5	27133	broad.mit.edu	37	14	63316439	63316439	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr14:63316439G>A	uc001xfx.3	-	7	1552	c.1501C>T	c.(1501-1503)Ctt>Ttt	p.L501F	KCNH5_uc001xfy.3_Missense_Mutation_p.L501F|KCNH5_uc001xfz.1_Missense_Mutation_p.L443F	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	501					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGCTCACTAAGGCCTTTTGGG	0.378000														52			24		0	0	0.00047179	0	0
PLAA	9373	broad.mit.edu	37	9	26919485	26919485	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:26919485G>C	uc003zqd.3	-	8	1665	c.1240C>G	c.(1240-1242)Cca>Gca	p.P414A	PLAA_uc003zqe.2_Missense_Mutation_p.P414A	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	414	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TTATATGATGGTCCACCTTCA	0.313000														227			7		0	0	0.000274275	0	0
abParts	0	broad.mit.edu	37	14	106518841	106518841	+	RNA	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr14:106518841G>A	uc021ser.1	-	2194		c.39213C>T								Parts of antibodies, mostly variable regions.																		ACCCAGCTCAGCCCCAATTCC	0.488000														123			59		0	0	0.000781405	0	0
C6orf118	168090	broad.mit.edu	37	6	165715219	165715219	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:165715219G>A	uc003qum.4	-	1	628	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	198										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TAGTGGTGCCGGTCCCTGGTG	0.632000														55			5		0	0	0.00198382	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488779	20488779	+	RNA	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr15:20488779G>A	uc001ytf.1	+	1		c.262G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		CAAGATTTTGGGAGAGACCTC	0.413000														123			10		0	0	0.00136819	0	0
KLHL20	27252	broad.mit.edu	37	1	173703100	173703100	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:173703100C>T	uc001gjc.3	+	2	451	c.272C>T	c.(271-273)cCc>cTc	p.P91L	KLHL20_uc010pmr.2_Intron|KLHL20_uc009wwf.3_Missense_Mutation_p.P73L|KLHL20_uc001gjd.3_Missense_Mutation_p.P91L	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	91	BTB.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GCCTGTAGTCCCTACTTCCGA	0.478000														48			24		0	0	0.00047179	0	0
DUSP16	80824	broad.mit.edu	37	12	12629826	12629826	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:12629826C>T	uc001rao.2	-	6	2702	c.1939G>A	c.(1939-1941)Ggg>Agg	p.G647R	DUSP16_uc001ran.2_Missense_Mutation_p.G499R	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA.	647					MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CCCACTTTCCCCAGCTCTTCC	0.453000														134			48		0	0	0.000781405	0	0
PLA2G6	8398	broad.mit.edu	37	22	38536174	38536174	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr22:38536174G>A	uc003auy.1	-	4	748	c.612C>T	c.(610-612)ctC>ctT	p.L204L	PLA2G6_uc003auz.1_Silent_p.L204L|PLA2G6_uc003ava.1_Silent_p.L204L|PLA2G6_uc003avb.2_Silent_p.L204L|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Intron	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	204					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TCCTTCCAAGGAGCTGATGAA	0.572000														31			16		0	0	0.000958276	0	0
NRK	203447	broad.mit.edu	37	X	105142685	105142685	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrX:105142685C>T	uc004emd.3	+	7	992	c.689C>T	c.(688-690)cCa>cTa	p.P230L	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	230	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GATGAGGACCCAAGACGCTCC	0.408000										HNSCC(51;0.14)				2			7		0	0	0.00198382	0	0
LEPR	3953	broad.mit.edu	37	1	66083654	66083654	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:66083654C>T	uc001dci.3	+	15	2609	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	LEPR_uc001dcg.3_Silent_p.I740I|LEPR_uc001dch.3_Silent_p.I740I|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Silent_p.I740I|LEPR_uc001dcj.3_Silent_p.I740I|LEPR_uc001dck.3_Silent_p.I740I	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	740	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAGTAAATATCGTGCAGTCAC	0.303000														24			17		0	0	0.000422831	0	0
GDA	9615	broad.mit.edu	37	9	74856202	74856202	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:74856202G>A	uc004air.3	+	10	1332	c.1123G>A	c.(1123-1125)Gga>Aga	p.G375R	GDA_uc011lse.2_Missense_Mutation_p.G301R|GDA_uc004aiq.3_Missense_Mutation_p.G375R|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.G301R|GDA_uc004ais.3_Missense_Mutation_p.G297R	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	375					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AGCTACTCTTGGAGGAAGCCA	0.383000														25			12		0	0	0.00185496	0	0
RPTOR	57521	broad.mit.edu	37	17	78599568	78599568	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:78599568C>T	uc002jyt.1	+	1	1045	c.240C>T	c.(238-240)ccC>ccT	p.P80P	RPTOR_uc002jys.3_Silent_p.P80P|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Silent_p.P80P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	80					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AGACCACGCCCTGTGCACGCT	0.567000														48			39		0	0	0.00285205	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	143495	143495	+	Splice_Site	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:143495G>A	uc003jak.2	+	3	670	c.620_splice	c.e3-1	p.G207_splice		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	207					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTCTCCGCAGGGACCCGAGAC	0.632000														48			34		0	0	0.000953801	0	0
ZNF208	7757	broad.mit.edu	37	19	22155201	22155201	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:22155201G>A	uc021urr.1	-	3	2784	c.2635C>T	c.(2635-2637)Cat>Tat	p.H879Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTTCTTATGATAACTAAGG	0.363000														25			30		0	0	0.00178596	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368473	18368473	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:18368473G>A	uc010ebn.2	-	3	3837	c.3621C>T	c.(3619-3621)ttC>ttT	p.F1207F	PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Silent_p.F1020F|KIAA1683_uc010xqe.1_Silent_p.F974F|KIAA1683_uc010xqf.1_Non-coding_Transcript	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	0						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGCCATCCTGGAACCAGCTTC	0.667000														22			30		0	0	0.0024448	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:129116038C>T	uc003eme.1	-	0		c.760G>A			RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Intron|RPL32P3_uc003emd.1_Intron					Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA.											lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567000														102			6		0	0	0.000274275	0	0
PCLO	27445	broad.mit.edu	37	7	82546012	82546012	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:82546012G>A	uc003uhx.2	-	6	11579	c.11290C>T	c.(11290-11292)Cag>Tag	p.Q3764*	PCLO_uc003uhv.2_Nonsense_Mutation_p.Q3764*|PCLO_uc010lec.3_Nonsense_Mutation_p.Q729*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3695					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						TCTATGTCCTGGAGAATCTTG	0.453000														40			28		0	0	0.00127121	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300629	103300629	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:103300629G>A	uc002tca.3	+	4	1401	c.1259G>A	c.(1258-1260)cGg>cAg	p.R420Q		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	420						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.R420R(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AATAGGTTCCGGACCATTCCC	0.453000														59			25		0	0	0.000878237	0	0
DCLK1	9201	broad.mit.edu	37	13	36396997	36396997	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr13:36396997C>T	uc001uvf.3	-	10	1706	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Missense_Mutation_p.D168N|DCLK1_uc010teh.2_Missense_Mutation_p.D168N|DCLK1_uc010abk.3_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	475	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTAATGGCATCAAAAAGGTCT	0.522000														45			19		0	0	0.00188189	0	0
NLRP1	22861	broad.mit.edu	37	17	5433872	5433872	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:5433872G>A	uc002gci.3	-	11	4004	c.3449C>T	c.(3448-3450)cCt>cTt	p.P1150L	NLRP1_uc002gcg.1_Missense_Mutation_p.P1154L|NLRP1_uc002gch.4_Missense_Mutation_p.P1150L|NLRP1_uc002gck.3_Missense_Mutation_p.P1150L|NLRP1_uc002gcj.3_Missense_Mutation_p.P1120L|NLRP1_uc002gcl.3_Missense_Mutation_p.P1120L|NLRP1_uc010clh.3_Missense_Mutation_p.P1150L	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1150					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTCCAGCAGAGGCCCTGCCAC	0.547000														51			6		0	0	0.00116845	0	0
ABCG1	9619	broad.mit.edu	37	21	43693533	43693533	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr21:43693533G>A	uc011aev.2	+	3	632	c.558G>A	c.(556-558)caG>caA	p.Q186Q	ABCG1_uc002zam.3_Silent_p.Q153Q|ABCG1_uc002zan.3_Silent_p.Q177Q|ABCG1_uc002zao.3_Silent_p.Q172Q|ABCG1_uc002zap.3_Silent_p.Q175Q|ABCG1_uc002zaq.3_Silent_p.Q175Q|ABCG1_uc002zar.3_Silent_p.Q186Q	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	175	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCACTGTGCAGGAGGCCATGA	0.667000														17			8		0	0	0.000157383	0	0
DMBT1	1755	broad.mit.edu	37	10	124395534	124395534	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:124395534T>A	uc001lgk.1	+	49	6295	c.6189T>A	c.(6187-6189)taT>taA	p.Y2063*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.Y2053*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.Y1435*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.Y2063*|DMBT1_uc021qag.1_Nonsense_Mutation_p.Y2053*|DMBT1_uc021qah.1_Nonsense_Mutation_p.Y1435*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.Y2062*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.Y783*|DMBT1_uc009yab.1_Nonsense_Mutation_p.Y766*|DMBT1_uc009yac.1_Nonsense_Mutation_p.Y357*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2063	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACTATGATTATATTGAAGTTT	0.512000														42			19		0	0	0.00188189	0	0
MMRN1	22915	broad.mit.edu	37	4	90856667	90856667	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr4:90856667G>A	uc003hst.3	+	5	1907	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Silent_p.E354E	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	612					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACACAGAAGAGAATTTACATG	0.338000														49			28		0	0	0.000720815	0	0
RP1	6101	broad.mit.edu	37	8	55538676	55538676	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:55538676C>T	uc003xsd.1	+	3	2382	c.2234C>T	c.(2233-2235)tCc>tTc	p.S745F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	745					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTTTTTGTTCCAAAAGTAAT	0.323000														35			15		0	0	0.000308642	0	0
SYK	6850	broad.mit.edu	37	9	93650807	93650807	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:93650807G>A	uc004aqz.3	+	12	1938	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	SYK_uc004ara.3_Missense_Mutation_p.G555E|SYK_uc004arb.3_Missense_Mutation_p.G555E|SYK_uc004arc.3_Missense_Mutation_p.G578E|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	578	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGGATGAAAGGAAGTGAAGTC	0.433000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									11			6		0	0	0.00198382	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	Missense_Mutation	SNP	G	A	A	rs143538588	by1000genomes	TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:142482242G>A	uc011ksq.2	+	4	705	c.622G>A	c.(622-624)Gga>Aga	p.G208R	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		GGTCTGCAATGGACAGCTTCA	0.493000														78			6		0	0	0.000157383	0	0
ATAD2	29028	broad.mit.edu	37	8	124349897	124349897	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:124349897G>A	uc003yqh.4	-	20	3127	c.3019C>T	c.(3019-3021)Cga>Tga	p.R1007*	ATAD2_uc011lii.2_Nonsense_Mutation_p.R798*|ATAD2_uc003yqi.4_Non-coding_Transcript	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	1007	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTAAACACTCGGAATCGCTTG	0.358000														55			19		0	0	0.00047179	0	0
CLVS1	157807	broad.mit.edu	37	8	62289219	62289219	+	Missense_Mutation	SNP	G	A	A	rs143211270	by1000genomes	TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:62289219G>A	uc003xuh.3	+	2	835	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CLVS1_uc003xug.2_3'UTR|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	171	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.E171K(2)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGTCCTAATCGAAGATCCGGA	0.438000														55			42		0	0	0.000781405	0	0
DIP2C	22982	broad.mit.edu	37	10	409183	409183	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr10:409183T>C	uc001ifp.3	-	20	2636	c.2546A>G	c.(2545-2547)gAc>gGc	p.D849G	DIP2C_uc009xhi.1_Missense_Mutation_p.D235G|DIP2C_uc010pzz.1_Missense_Mutation_p.D170G	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	849						nucleus	catalytic activity|transcription factor binding	p.P848T(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTCCGTGGAGTCAGGCCTCTG	0.627000														19			7		0	0	0.000157383	0	0
CHERP	10523	broad.mit.edu	37	19	16630054	16630054	+	Silent	SNP	A	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:16630054A>T	uc002nei.1	-	16	2741	c.2667T>A	c.(2665-2667)gcT>gcA	p.A889A	MED26_uc002nee.2_Non-coding_Transcript|C19orf44_uc002neh.1_Intron|C19orf44_uc010eai.1_Intron|CHERP_uc010xpg.1_Silent_p.A428A	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	889	G-patch.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGTCATCCAGAGCCACGCCCA	0.622000														27			26		0	0	0.00106085	0	0
USP31	57478	broad.mit.edu	37	16	23080670	23080670	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr16:23080670G>A	uc002dll.3	-	15	2756	c.2756C>T	c.(2755-2757)tCt>tTt	p.S919F	USP31_uc002dlk.3_Missense_Mutation_p.S191F|USP31_uc010vca.2_Missense_Mutation_p.S222F|USP31_uc010bxm.3_Missense_Mutation_p.S207F	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	919	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTAACTGCTAGAAAGGTTCCG	0.547000														44			17		0	0	0.00074312	0	0
F5	2153	broad.mit.edu	37	1	169511711	169511711	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:169511711C>T	uc001ggg.1	-	12	2762	c.2617G>A	c.(2617-2619)Gat>Aat	p.D873N		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	873	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCTGCTTGATCTCTTTCTACC	0.463000														111			55		0	0	0.000781405	0	0
COL14A1	7373	broad.mit.edu	37	8	121357691	121357691	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:121357691C>T	uc003yox.3	+	44	5231	c.4966C>T	c.(4966-4968)Cct>Tct	p.P1656S	COL14A1_uc003yoz.3_Missense_Mutation_p.P621S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1656	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCAAGGGCCTCCTGGGGAGCC	0.622000														57			19		0	0	0.00121646	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220072749	220072749	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:220072749C>T	uc002vka.3	+	3	595	c.423C>T	c.(421-423)acC>acT	p.T141T	ZFAND2B_uc010zkt.2_Silent_p.T141T|ZFAND2B_uc010fwd.1_Silent_p.T141T|ZFAND2B_uc002vjz.1_Silent_p.T141T|ZFAND2B_uc002vkb.1_Silent_p.T32T	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.	141						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCACCCAACCAGCCGGGCAG	0.512000														63			25		0	0	0.00106085	0	0
DNAH6	1768	broad.mit.edu	37	2	84806744	84806744	+	Missense_Mutation	SNP	C	T	T	rs142042706		TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:84806744C>T	uc010fgb.3	+	13	2307	c.2170C>T	c.(2170-2172)Cca>Tca	p.P724S	DNAH6_uc002soo.3_Missense_Mutation_p.P303S|DNAH6_uc002sop.3_Missense_Mutation_p.P303S	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	724	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGAGTTTGTTCCAACTACTAC	0.343000														33			15		0	0	0.00244969	0	0
NOMO1	23420	broad.mit.edu	37	16	14973913	14973914	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr16:14973913_14973914CC>TT	uc002dcv.3	+	23	2865_2866	c.2799_2800CC>TT	c.(2797-2802)ttccgg>ttTTgg	p.R934W		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	934						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGAAGGAGTTCCGGTTTGAGCC	0.525000														115			31		0	0	6.4e-05	0	0
BPGM	669	broad.mit.edu	37	7	134363713	134363713	+	Missense_Mutation	SNP	A	G	G	rs11769006		TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:134363713A>G	uc003vrv.3	+	3	1251	c.710A>G	c.(709-711)gAc>gGc	p.D237G	BPGM_uc003vrw.3_Missense_Mutation_p.D237G	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	237					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						TTCCTGGGTGACCAAGAGGCG	0.428000														175			71		0	0	0.000781405	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439748	145439748	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:145439748C>T	uc003lnt.3	+	8	2113	c.1875C>T	c.(1873-1875)atC>atT	p.I625I	SH3RF2_uc011dbl.1_Silent_p.I625I|SH3RF2_uc011dbm.1_Silent_p.I110I|SH3RF2_uc003lnu.3_Silent_p.I116I|SH3RF2_uc011dbn.1_Silent_p.I116I|SH3RF2_uc011dbo.2_Silent_p.I82I	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	625							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCATCCATCCTGGTGAAAC	0.522000														69			22		0	0	0.000878237	0	0
TRIML1	339976	broad.mit.edu	37	4	189065256	189065256	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr4:189065256G>A	uc003izm.1	+	4	940	c.825G>A	c.(823-825)acG>acA	p.T275T	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	275	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.T275T(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCCGCATCACGGGAATGAAGG	0.527000														20			11		0	0	0.00185496	0	0
C2CD3	26005	broad.mit.edu	37	11	73814461	73814461	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:73814461G>A	uc001ouu.2	-	13	2522	c.2295C>T	c.(2293-2295)ctC>ctT	p.L765L		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	765						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTCGGTTGGGGAGCACCAAGT	0.438000														39			12		0	0	0.00185496	0	0
OR5B3	441608	broad.mit.edu	37	11	58170715	58170715	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:58170715G>A	uc010rkf.2	-	0	168	c.168C>T	c.(166-168)ccC>ccT	p.P56P		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAAGTACATGGGATTGTGGA	0.413000														39			21		0	0	0.00188189	0	0
SLC26A7	115111	broad.mit.edu	37	8	92301455	92301455	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr8:92301455G>A	uc003yez.3	+	2	524	c.285G>A	c.(283-285)atG>atA	p.M95I	SLC26A7_uc003yex.3_Missense_Mutation_p.M95I|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.M95I	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	95						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TATTTGGAATGGGACATCATG	0.388000														107			43		0	0	0.000781405	0	0
VCAM1	7412	broad.mit.edu	37	1	101190273	101190273	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:101190273C>T	uc001dti.3	+	3	976	c.755C>T	c.(754-756)cCa>cTa	p.P252L	VCAM1_uc010ouj.2_Missense_Mutation_p.P190L|VCAM1_uc001dtj.3_Missense_Mutation_p.P252L	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	252	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAGGGTCTACCAGCTCCAGAG	0.433000														24			19		0	0	0.00074312	0	0
SLC44A4	80736	broad.mit.edu	37	6	31838420	31838420	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:31838420G>A	uc010jti.3	-	10	1063	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	SLC44A4_uc011dol.2_Missense_Mutation_p.R257W|SLC44A4_uc011dom.2_Missense_Mutation_p.R291W	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	333						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	ATACGAATCCGCTGCCGCAGG	0.622000														95			19		0	0	0.00152264	0	0
SLC22A9	114571	broad.mit.edu	37	11	63177310	63177310	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:63177310G>A	uc001nww.3	+	9	1906	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	546					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAGAGGATCCGAGAGTGGAAG	0.413000														25			10		0	0	0.000978159	0	0
DNAH5	1767	broad.mit.edu	37	5	13871029	13871029	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:13871029A>C	uc003jfd.2	-	23	3723	c.3681T>G	c.(3679-3681)agT>agG	p.S1227R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1227	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1227G(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCCATCTCACTCCGGTATT	0.408000									Kartagener syndrome					69			21		0	0	0.00188189	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567282	140567282	+	Silent	SNP	G	C	C			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:140567282G>C	uc003liw.1	+	0	390	c.390G>C	c.(388-390)tcG>tcC	p.S130S		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	130	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGATCACTCGCCAGTGTTTC	0.428000														48			11		0	0	0.000673444	0	0
ACP2	53	broad.mit.edu	37	11	47264422	47264422	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:47264422C>T	uc001nei.3	-	9	1107	c.990G>A	c.(988-990)cgG>cgA	p.R330R	ACP2_uc010rhe.2_Silent_p.R302R|ACP2_uc009ylj.3_Silent_p.R258R|ACP2_uc010rhf.2_Silent_p.R298R|ACP2_uc010rhg.2_Silent_p.R267R|ACP2_uc010rhh.2_Silent_p.R143R|ACP2_uc009ylk.2_Silent_p.R297R|ACP2_uc010rhi.1_Silent_p.R143R	NM_001610	NP_001601	P11117	PPAL_HUMAN	Homo sapiens acid phosphatase 2, lysosomal (ACP2), transcript variant 1, mRNA.	330						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity	p.R330Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CACTCTCGTTCCGAAAGTACA	0.642000														19			9		0	0	0.000673444	0	0
LRP1B	53353	broad.mit.edu	37	2	141356370	141356370	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:141356370G>A	uc002tvj.1	-	42	7996	c.7024C>T	c.(7024-7026)Cca>Tca	p.P2342S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2342					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		ATGATACTTGGATGTTGTTCA	0.338000										TSP Lung(27;0.18)				26			17		0	0	0.00229938	0	0
GLIS1	148979	broad.mit.edu	37	1	54059973	54059973	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:54059973G>C	uc001cvr.1	-	2	1170	c.603C>G	c.(601-603)gaC>gaG	p.D201E		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	201					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CTGCACAGCAGTCCACCCAGC	0.682000														19			6		0	0	0.000157383	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118358	118358	+	RNA	SNP	A	G	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrGL000205.1:118358A>G	uc002kgk.4	+	0		c.1736A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GCCAGGGAAGACATCATCCCT	0.557000														44			7		0	0	0.000157383	0	0
BPTF	2186	broad.mit.edu	37	17	65916199	65916199	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:65916199C>T	uc002jgf.3	+	12	5558	c.5497C>T	c.(5497-5499)Cga>Tga	p.R1833*	BPTF_uc002jge.3_Nonsense_Mutation_p.R1959*	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1959					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.R1833Q(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTATGGCATTCGATCTGAATA	0.318000														89			37		0	0	0.00111076	0	0
SNAP91	9892	broad.mit.edu	37	6	84269854	84269854	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr6:84269854G>A	uc021zcf.1	-	26	2630	c.2600C>T	c.(2599-2601)cCc>cTc	p.P867L	SNAP91_uc011dzd.2_Missense_Mutation_p.P365L|SNAP91_uc003pka.3_Missense_Mutation_p.P865L|SNAP91_uc011dze.2_Missense_Mutation_p.P865L|SNAP91_uc003pkc.3_Missense_Mutation_p.P837L|SNAP91_uc003pkd.3_Missense_Mutation_p.P560L|SNAP91_uc003pkb.3_Missense_Mutation_p.P776L	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	867	Pro-rich.				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)		AGCTCCAAAGGGGGGCCTCAT	0.517000														49			20		0	0	0.00229938	0	0
CFH	3075	broad.mit.edu	37	1	196887394	196887394	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:196887394G>A	uc001gtp.3	+	9	1732	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	CFH_uc021pgt.1_Missense_Mutation_p.G155E|CFH_uc009wyy.3_Missense_Mutation_p.G531E|CFH_uc001gto.3_Missense_Mutation_p.G285E	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	884	Sushi 9.				complement activation, alternative pathway	extracellular space		p.G285E(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAGTTAAAAGGAAAAAGTGAC	0.279000														35			21		0	0	0.00188189	0	0
SULT1E1	6783	broad.mit.edu	37	4	70709918	70709918	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr4:70709918C>T	uc003heo.3	-	6	846	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	245					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TTCATAATTTCGTCTGGCAGT	0.428000														89			35		0	0	0.00111076	0	0
ZNF439	90594	broad.mit.edu	37	19	11977098	11977098	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:11977098C>T	uc002mss.3	+	0	255	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	ZNF439_uc002msr.3_Intron	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CCAGAAGAATCTCTACAGGGA	0.448000														61			69		0	0	0.000781405	0	0
ARID2	196528	broad.mit.edu	37	12	46215264	46215264	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr12:46215264C>T	uc001ros.1	+	5	699	c.699C>T	c.(697-699)ttC>ttT	p.F233F	ARID2_uc001ror.3_Silent_p.F233F	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	233					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATAGAGACTTCGTTAAGGTAA	0.284000			"""N, S, F"""		hepatocellular carcinoma									36			41		0	0	0.000781405	0	0
PARP4	143	broad.mit.edu	37	13	25008631	25008631	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr13:25008631G>A	uc001upl.3	-	30	4754	c.4648C>T	c.(4648-4650)Ctg>Ttg	p.L1550L		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1550				L -> P (in Ref. 1; AAD47250, 2; AAC62491 and 3; BAA11494).	DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding	p.I1549V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGAAAGCACAGGATACTGTCA	0.403000														45			17		0	0	0.000422831	0	0
RPRD2	23248	broad.mit.edu	37	1	150429989	150429989	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:150429989C>T	uc009wlr.3	+	7	1297	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C	RPRD2_uc010pcc.1_Missense_Mutation_p.R340C|RPRD2_uc001eup.4_Missense_Mutation_p.R340C	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	366							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GACAGATAATCGTGATGTGGA	0.428000														148			59		0	0	0.000781405	0	0
MLANA	2315	broad.mit.edu	37	9	5897597	5897597	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:5897597T>G	uc003zjo.1	+	2	171	c.118T>G	c.(118-120)Tta>Gta	p.L40V		NM_005511	NP_005502	Q16655	MAR1_HUMAN	Homo sapiens melan-A (MLANA), mRNA.	40						endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network	protein binding	p.L40>?(1)|p.L40L(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		CCTGGGAGTCTTACTGCTCAT	0.483000														113			4		0	0	0.00116845	0	0
OR1A1	8383	broad.mit.edu	37	17	3119823	3119823	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:3119823C>T	uc010vrc.2	+	0	909	c.909C>T	c.(907-909)ttC>ttT	p.F303F		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GGAAACTCTTCAACAAGAGAA	0.458000														46			19		0	0	0.00121646	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				97			39		0	0	0.00128727	0	0
TLN1	7094	broad.mit.edu	37	9	35714009	35714009	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:35714009G>A	uc003zxt.2	-	24	3544	c.3190C>T	c.(3190-3192)Cta>Tta	p.L1064L		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1064					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTTCCTGTAGATCTTTCTCT	0.443000														31			16		0	0	0.00121646	0	0
ATP11A	23250	broad.mit.edu	37	13	113485797	113485797	+	Missense_Mutation	SNP	G	A	A	rs141227366	byFrequency	TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr13:113485797G>A	uc001vsj.4	+	12	1418	c.1330G>A	c.(1330-1332)Ggg>Agg	p.G444R	ATP11A_uc001vsi.4_Missense_Mutation_p.G444R|ATP11A_uc001vsm.1_Missense_Mutation_p.G320R	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	444					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CATCTGCAACGGGCAGGTCCT	0.587000														23			16		0	0	0.000958276	0	0
SLC2A7	155184	broad.mit.edu	37	1	9074860	9074860	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:9074860C>T	uc009vmo.1	-	6	783	c.783G>A	c.(781-783)cgG>cgA	p.R261R		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	261			R -> Q (in dbSNP:rs12402973).			integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.R261Q(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CGCGCTCGGCCCGGGCCTCCG	0.697000														6			6		0	0	0.000157383	0	0
NUP188	23511	broad.mit.edu	37	9	131761586	131761586	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:131761586G>A	uc004bws.1	+	32	3673	c.3651G>A	c.(3649-3651)aaG>aaA	p.K1217K	NUP188_uc004bwu.3_Silent_p.K560K	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1217					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCAAATGAAGGAGATGAAAG	0.582000											OREG0003925	type=REGULATORY REGION|Gene=AK025292|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		32			4		0	0	0.000602214	0	0
KLK5	25818	broad.mit.edu	37	19	51451995	51451995	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:51451995G>A	uc002pue.3	-	5	845	c.627C>T	c.(625-627)atC>atT	p.I209I	KLK5_uc002puf.3_Silent_p.I209I|KLK5_uc002pug.3_Silent_p.I209I	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	209	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTAGCACGCTGATATTCAAGC	0.512000														15			15		0	0	0.000308642	0	0
TBCEL	219899	broad.mit.edu	37	11	120957608	120957608	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr11:120957608C>T	uc001pxo.3	+	7	1283	c.1078C>T	c.(1078-1080)Cgt>Tgt	p.R360C	TBCEL_uc009zay.3_Missense_Mutation_p.R360C|TBCEL_uc001pxp.3_Missense_Mutation_p.R216C|TBCEL_uc001pxq.3_Non-coding_Transcript	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	360	Ubiquitin-like.					cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AATGAGCATTCGTCTGGACCA	0.433000														16			5		0	0	0.00116845	0	0
P2RY10	27334	broad.mit.edu	37	X	78216875	78216875	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chrX:78216875C>T	uc022bzl.1	+	0	858	c.858C>T	c.(856-858)ttC>ttT	p.F286F	P2RY10_uc004ede.3_Silent_p.F286F|P2RY10_uc004edf.3_Silent_p.F286F	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	286						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CACTGTATTTCCACCCTTTTT	0.423000														39			83		0	0	0.000781405	0	0
SIDT1	54847	broad.mit.edu	37	3	113286510	113286510	+	Silent	SNP	T	G	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:113286510T>G	uc021xcn.1	+	2	1119	c.468T>G	c.(466-468)ggT>ggG	p.G156G	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Silent_p.G156G|SIDT1_uc011big.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	156						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CACCCCTGGGTGCTCAGTACA	0.512000														95			33		0	0	0.000692331	0	0
BRD1	23774	broad.mit.edu	37	22	50187931	50187931	+	Silent	SNP	G	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr22:50187931G>A	uc011arg.2	-	6	2271	c.2257C>T	c.(2257-2259)Ctg>Ttg	p.L753L	BRD1_uc011arf.2_Silent_p.L299L|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Silent_p.L704L|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Silent_p.L704L	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	704					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGGGGTCCAGCAACCTGTCC	0.602000														51			37		0	0	0.000680045	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140725	143140725	+	Silent	SNP	T	G	G			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr7:143140725T>G	uc011ktg.2	+	0	180	c.180T>G	c.(178-180)gtT>gtG	p.V60V	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	60					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					AGTTATTGGTTAGCCTAGGGG	0.507000														53			38		0	0	0.00170553	0	0
DNAH9	1770	broad.mit.edu	37	17	11790183	11790183	+	Silent	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr17:11790183C>T	uc002gne.3	+	56	11081	c.11013C>T	c.(11011-11013)gcC>gcT	p.A3671A	DNAH9_uc010coo.3_Silent_p.A2965A|DNAH9_uc002gnf.3_5'UTR|DNAH9_uc010vvh.1_Silent_p.A24A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3671					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)		TCAACGAGGCCCGAGAGCACT	0.522000														20			15		0	0	0.000422831	0	0
LIPI	149998	broad.mit.edu	37	21	15561499	15561499	+	Silent	SNP	G	A	A	rs148528170	byFrequency	TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr21:15561499G>A	uc002yjm.3	-	1	361	c.351C>T	c.(349-351)ttC>ttT	p.F117F	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Silent_p.F96F|LIPI_uc021whh.1_Silent_p.F96F|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Silent_p.F96F|LIPI_uc021whe.1_Silent_p.F96F|LIPI_uc021whf.1_Silent_p.F96F	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	96					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.F117F(2)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AAATCCTTACGAAGTTCTGAA	0.368000														31			22		0	0	0.00278032	0	0
PCDH18	54510	broad.mit.edu	37	4	138442323	138442323	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr4:138442323C>T	uc003ihe.4	-	3	3655	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	PCDH18_uc003ihf.4_Missense_Mutation_p.E1082K|PCDH18_uc011cgz.2_Missense_Mutation_p.E301K|PCDH18_uc003ihg.4_Missense_Mutation_p.E869K|PCDH18_uc011cha.2_Missense_Mutation_p.E270K	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1090	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGGATCTCCTCCATGGCTGGC	0.502000														24			15		0	0	0.00244969	0	0
EPHB2	2048	broad.mit.edu	37	1	23233280	23233281	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:23233280_23233281delAA	uc009vqj.1	+	10	2111_2112	c.1966_1967delAA	c.(1966-1968)aagfs	p.K656fs	EPHB2_uc001bge.3_Frame_Shift_Del_p.K657fs|EPHB2_uc001bgf.3_Frame_Shift_Del_p.K656fs|EPHB2_uc010odu.2_Frame_Shift_Del_p.K598fs	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	656	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAAGACGCTCAAGTCGGGCTAC	0.589													---	38	---	---	12	---					
AHDC1	27245	broad.mit.edu	37	1	27874264	27874264	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:27874264delG	uc021ojw.1	-	0	4363	c.4363delC	c.(4363-4365)cacfs	p.H1455fs	AHDC1_uc009vsy.3_Frame_Shift_Del_p.H1455fs|AHDC1_uc009vsz.1_Frame_Shift_Del_p.H1455fs	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1455							DNA binding	p.H1455H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAATCGTAGTGGGGCTGGCCC	0.692													---	4	---	---	2	---					
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	-	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr1:226034840_226034842delCTG	uc001hpm.2	-	23	2945_2947	c.2323_2325delCAG	c.(2323-2325)cagdel	p.Q775del		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	775						integral to membrane|lysosomal membrane	nucleotide binding	p.Q775delQ(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626													---	157	---	---	7	---					
MRPL33	9553	broad.mit.edu	37	2	27997313	27997313	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr2:27997313delA	uc002rlm.1	+	2	125	c.64delA	c.(64-66)agcfs	p.S22fs	MRPL33_uc002rln.1_Intron	NM_004891	NP_004882	O75394	RM33_HUMAN	Homo sapiens mitochondrial ribosomal protein L33 (MRPL33), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	22					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(172;0.155)					GAGAATGGTGAGCGAAGCTGG	0.438													---	129	---	---	39	---					
PTPRG	5793	broad.mit.edu	37	3	62063933	62063934	+	Splice_Site	INS	-	A	A			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr3:62063933_62063934insA	uc003dlb.3	+	5	1334	c.615_splice	c.e5+1	p.Q205_splice	PTPRG_uc003dlc.3_Splice_Site_p.Q205_splice	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	205	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATTTTTTCAAGTAAGTTAACAG	0.337													---	33	---	---	9	---					
DMXL1	1657	broad.mit.edu	37	5	118506200	118506202	+	In_Frame_Del	DEL	CTC	-	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr5:118506200_118506202delCTC	uc010jcl.1	+	23	5895_5897	c.5714_5716delCTC	c.(5713-5718)tctcct>tct	p.P1906del	DMXL1_uc003ksd.2_In_Frame_Del_p.P1906del|DMXL1_uc021ycw.1_In_Frame_Del_p.P1733del	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1906										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAAGACTGTTCTCCTTCTTCTCC	0.379													---	69	---	---	28	---					
PRUNE2	158471	broad.mit.edu	37	9	79244208	79244208	+	Splice_Site	DEL	T	-	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr9:79244208delT	uc010mpk.3	-	16	9175	c.9051_splice	c.e16-1	p.S3017_splice	PRUNE2_uc011lsk.2_Splice_Site_p.S266_splice|PRUNE2_uc011lsl.2_Splice_Site_p.S281_splice|PRUNE2_uc011lsm.2_Splice_Site_p.S282_splice|PRUNE2_uc004akj.4_Splice_Site_p.S471_splice|PRUNE2_uc022big.1_Splice_Site	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	3017	CRAL-TRIO.				G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AATTTTGAACTAAAAAAAAAA	0.333													---	9	---	---	4	---					
PCDH17	27253	broad.mit.edu	37	13	58240609	58240610	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr13:58240609_58240610insT	uc001vhq.1	+	1	3465_3466	c.2573_2574insT	c.(2572-2574)aatfs	p.N858fs	PCDH17_uc010aec.1_Frame_Shift_Ins_p.N858fs|PCDH17_uc001vhr.1_5'Flank	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	858					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGACAGACAATTTTCCCGCAG	0.401													---	43	---	---	16	---					
STK11	6794	broad.mit.edu	37	19	1220396	1220403	+	Frame_Shift_Del	DEL	CCTGGAGT	-	-			TCGA-EB-A1NK-01A-11D-A196-08	TCGA-EB-A1NK-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4866043-bb1c-4602-889b-58d565b39d37	839c6ed4-8895-41db-a9e4-eae33505bd36	g.chr19:1220396_1220403delCCTGGAGT	uc002lrl.1	+	3	1604_1611	c.489_496delCCTGGAGT	c.(487-498)ggcctggagtacfs	p.G163fs		NM_000455	NP_000446	Q15831	STK11_HUMAN	Homo sapiens serine/threonine kinase 11 (STK11), mRNA.	163	Protein kinase.		DGL -> NDM (in PJS).|G -> D (in testicular tumors; a tumor with seminoma and teratoma components; associated with severely impaired but detectable kinase activity; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(4)|p.Y156fs*87(4)|p.E165*(3)|p.G52_P179del(1)|p.G163C(1)|p.G163D(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATTGACGGCCTGGAGTACCTGCATAG	0.649		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			---	1	---	---	5	---					
