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
CUX1	1523	broad.mit.edu	37	7	101740668	101740668	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:101740668G>A	uc003uys.4	+	4	453	c.326G>A	c.(325-327)gGa>gAa	p.G109E	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Missense_Mutation_p.G93E|CUX1_uc003uyt.3_Missense_Mutation_p.G109E|CUX1_uc003uyu.3_Missense_Mutation_p.G109E|CUX1_uc011kkn.2_Missense_Mutation_p.G72E|CUX1_uc003uyx.4_Missense_Mutation_p.G98E	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	98					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H109H(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTGGATCTCGGACAGCAACTC	0.522000														45			22		0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16463621	16463621	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:16463621A>T	uc003jfq.3	-	1	976	c.856T>A	c.(856-858)Tca>Aca	p.S286T		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	Homo sapiens zinc finger protein 622 (ZNF622), mRNA.	286						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTAATATCTGAAAGATATTCT	0.373000														50			24		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790452	4790452	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:4790452G>A	uc010qyl.2	-	0	696	c.696C>T	c.(694-696)tcC>tcT	p.S232S		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	232						integral to membrane	olfactory receptor activity	p.A231A(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATTCTTCAGGGGAGGCAATTC	0.458000														53			17		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108677852	108677852	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:108677852C>T	uc003dxl.3	-	27	3002	c.2915G>A	c.(2914-2916)aGa>aAa	p.R972K	MORC1_uc011bhn.2_Missense_Mutation_p.R951K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	972					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						taaagggagtctatgtcttgc	0.299000														15			12		0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779025	97779025	+	Silent	SNP	C	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr10:97779025C>A	uc010qop.2	+	7	820	c.588C>A	c.(586-588)ggC>ggA	p.G196G	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Intron|CC2D2B_uc001kll.3_Silent_p.G196G	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	196										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CATCAACTGGCCAATGTTATA	0.333000														23			19		2.94398e-08	3.00489e-08	1	1	0
PLEC	5339	broad.mit.edu	37	8	144992531	144992531	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr8:144992531G>A	uc003zaf.1	-	31	12039	c.11869C>T	c.(11869-11871)Ctg>Ttg	p.L3957L	PLEC_uc003zab.1_Silent_p.L3820L|PLEC_uc003zac.1_Silent_p.L3824L|PLEC_uc003zad.2_Silent_p.L3820L|PLEC_uc003zae.1_Silent_p.L3788L|PLEC_uc003zag.1_Silent_p.L3798L|PLEC_uc003zah.2_Silent_p.L3806L|PLEC_uc003zaj.2_Silent_p.L3847L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3957	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.P3956S(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCACCTCCAGGGGAAGGTGG	0.667000														5			4		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11539984	11539984	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr17:11539984C>T	uc002gne.3	+	8	1737	c.1669C>T	c.(1669-1671)Ccg>Tcg	p.P557S		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	557	Stem (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)		CCTTGAAAGACCGCTGGTAGC	0.433000														28			4		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83036423	83036423	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:83036423C>T	uc003uhy.2	-	6	1424	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	SEMA3E_uc022agy.1_Missense_Mutation_p.R208Q	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	268	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CACACAGAGTCGCCCGACCCT	0.383000														31			23		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123615714	123615714	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:123615714G>A	uc010nqy.3	-	21	3881	c.3817C>T	c.(3817-3819)Ctt>Ttt	p.L1273F	ODZ1_uc011muj.2_Missense_Mutation_p.L1272F|ODZ1_uc004euj.3_Missense_Mutation_p.L1266F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1266					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GTCTCCACAAGAGATTTCAAC	0.458000														73			22		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416054	105416054	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr14:105416054G>A	uc010axc.1	-	6	5854	c.5734C>T	c.(5734-5736)Ccc>Tcc	p.P1912S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P1812S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1912						nucleus		p.P1912S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGAAACTGGGCATATCCACC	0.627000														190			4		0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152226399	152226399	+	Silent	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:152226399C>T	uc022cho.1	+	0	987	c.987C>T	c.(985-987)ctC>ctT	p.L329L	PNMA3_uc004fhc.2_Silent_p.L329L|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	329					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					tggtgaagctcctgcgtgagg	0.577000														36			13		0	0	1	0	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:35930362T>C	uc010kxc.3	+	9	1175	c.951T>C	c.(949-951)taT>taC	p.Y317Y	SEPT7_uc011kat.2_Silent_p.Y317Y|SEPT7_uc011kau.2_Silent_p.Y283Y|SEPT7_uc011kav.2_Silent_p.Y266Y	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000														25			3		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270406	1270406	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr16:1270406G>A	uc002cks.3	+	34	6722	c.6474G>A	c.(6472-6474)gcG>gcA	p.A2158A	CACNA1H_uc002ckt.3_Silent_p.A2152A|CACNA1H_uc002cku.3_Silent_p.A853A|CACNA1H_uc010brj.3_Silent_p.A869A|CACNA1H_uc002ckv.3_Silent_p.A847A	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2158					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGCCCTCGGCGGAGCTGGGCA	0.731000														20			10		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31389147	31389147	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr20:31389147G>A	uc002wyc.3	+	18	2381	c.2060G>A	c.(2059-2061)gGt>gAt	p.G687D	DNMT3B_uc002wyd.3_Missense_Mutation_p.G667D|DNMT3B_uc002wye.3_Missense_Mutation_p.G667D|DNMT3B_uc010ztz.2_Missense_Mutation_p.G625D|DNMT3B_uc010zua.2_Missense_Mutation_p.G591D|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.G679D|DNMT3B_uc002wyg.3_Missense_Mutation_p.G386D|DNMT3B_uc010geg.3_5'UTR|DNMT3B_uc010geh.3_Non-coding_Transcript	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	687					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCAAGGAGGGTGATGACCGG	0.527000														41			16		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130482589	130482589	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr9:130482589C>T	uc004brq.1	+	5	639	c.572C>T	c.(571-573)aCg>aTg	p.T191M	PTRH1_uc011mah.2_Intron|TTC16_uc011mai.1_Missense_Mutation_p.T178M|TTC16_uc004brr.1_Missense_Mutation_p.T136M|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	191							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCCTGCCTCACGCTCATCACC	0.612000														29			27		0	0	1	0	0
KBTBD13	390594	broad.mit.edu	37	15	65369922	65369922	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr15:65369922G>A	uc010uis.2	+	0	769	c.769G>A	c.(769-771)Gac>Aac	p.D257N	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 13 (KBTBD13), mRNA.	257						cytoplasm		p.D257N(2)		lung(1)|prostate(1)|skin(1)	3						GGCCGGCTTCGACGGCCGCCT	0.697000														7			3		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10303993	10303993	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr17:10303993C>T	uc002gmm.2	-	26	3544	c.3449G>A	c.(3448-3450)aGc>aAc	p.S1150N	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1150					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGCCTCTCGCTGATCTCCTC	0.602000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					102			28		0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35930253	35930253	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr10:35930253G>C	uc001iyz.1	-	0	110	c.105C>G	c.(103-105)tgC>tgG	p.C35W		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	35	FZ.				T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGATCTCTTGGCATGCCAGCT	0.637000														39			14		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	T	T	rs3969711		TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:145296373G>T	uc021oul.1	+	2	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.V99F|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	99								p.V99F(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000														230			5		0.014758	0.0148584	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19716377	19716377	+	Splice_Site	SNP	C	T	T	rs142617767		TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr21:19716377C>T	uc002ykw.3	-	11	1203	c.1172_splice	c.e11-1	p.G391_splice		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	391	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AATGTAAAATCCTGTAAAAAT	0.378000														38			23		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108380784	108380784	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:108380784C>T	uc003dxd.3	+	19	2682	c.2260C>T	c.(2260-2262)Caa>Taa	p.Q754*	DZIP3_uc003dxf.1_Nonsense_Mutation_p.Q754*|DZIP3_uc011bhm.2_Nonsense_Mutation_p.Q205*	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	754					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GCTTGCTCGTCAAAGGCAGCT	0.368000														26			13		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76631555	76631555	+	RNA	SNP	C	T	T	rs61737188	by1000genomes	TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:76631555C>T	uc011kgn.1	+	3		c.696C>T			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.									p.P21S(1)									GGCAATCGGGCCCCTGGCTGT	0.607000														27			4		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151896614	151896614	+	RNA	SNP	C	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:151896614C>A	uc004fgb.3	-	2		c.375G>T						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.											breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTGGTTTCCTGGACATCTT	0.567000														158			4		0.184627	0.184627	1	1	0
ZNF679	168417	broad.mit.edu	37	7	63720659	63720659	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:63720659G>A	uc003tsx.3	+	2	369	c.100G>A	c.(100-102)Gat>Aat	p.D34N		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L33Q(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GCAATGCCTGGATCACGCTCA	0.388000														107			19		0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	T	T	rs367060		TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:16946434C>T	uc010ocf.2	-	2		c.464G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CTCAGCCTTCCGCCGGGCCAG	0.672000														9			5		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	G	G	rs146714035	by1000genomes	TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000														43			3		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740831	110740831	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:110740831C>T	uc009wfq.3	+	11	2410	c.1949C>T	c.(1948-1950)aCc>aTc	p.T650I		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	650					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGCTCCAACACCCTCTCCGTG	0.597000														42			3		0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33690846	33690846	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:33690846C>T	uc010jvf.2	-	6	1420	c.884G>A	c.(883-885)cGg>cAg	p.R295Q	IP6K3_uc003ofb.2_Missense_Mutation_p.R295Q	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	295					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GAGCTCCCTCCGGAGGTGGCT	0.522000														48			3		0	0	1	0	0
STUB1	10273	broad.mit.edu	37	16	731537	731537	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr16:731537G>A	uc002cit.3	+	2	869	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	STUB1_uc002ciu.3_Missense_Mutation_p.R81Q	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	Homo sapiens STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase (STUB1), mRNA.	153					DNA repair|cellular response to misfolded protein|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein autoubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|SMAD binding|TPR domain binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				ATTGAGGAGCGGCGCATCCAC	0.642000														11			11		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49933493	49933493	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:49933493G>A	uc003cxy.4	-	10	2961	c.2697C>T	c.(2695-2697)acC>acT	p.T899T	MST1R_uc011bdc.2_Intron	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	899					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CACCACCCACGGTCACGTTGA	0.622000														143			6		0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	G	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:58385762C>G	uc002qqo.2	-	2	1268	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000														1			2		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329460	56329460	+	Silent	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:56329460C>T	uc010ygf.2	-	3	792	c.81G>A	c.(79-81)aaG>aaA	p.K27K	NLRP11_uc002qmb.3_Intron|NLRP11_uc002qmc.3_Intron|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	27	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCAGATACTTCTTAAAACTCT	0.428000														39			16		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347047	71347047	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr4:71347047T>C	uc011cat.2	+	3	874	c.586T>C	c.(586-588)Tct>Cct	p.S196P	MUC7_uc011cau.2_Missense_Mutation_p.S196P|MUC7_uc003hfj.3_Missense_Mutation_p.S196P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	196	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.587000														126			4		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5863093	5863093	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:5863093G>A	uc010qzq.2	-	0	35	c.35C>T	c.(34-36)tCt>tTt	p.S12F	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGAATGAAGAAGTATGGAA	0.413000														14			16		0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41708265	41708265	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:41708265A>G	uc003ora.2	-	5	798	c.731T>C	c.(730-732)gTc>gCc	p.V244A		NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	244					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	p.P243L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TTCCTGGGTGACAGGCGCCCA	0.617000														136			6		0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153789237	153789237	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:153789237G>C	uc003lvh.3	+	8	1433	c.1301G>C	c.(1300-1302)aGt>aCt	p.S434T	GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Missense_Mutation_p.S275T|FLJ38109_uc003lvi.3_Intron	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	434						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			aactgcaagagtttcaagtgg	0.587000														98			51		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283968	152283968	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:152283968C>G	uc001ezu.1	-	2	3430	c.3394G>C	c.(3394-3396)Ggg>Cgg	p.G1132R	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1132	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGTCCGCCCATGGGCAGAC	0.597000									Ichthyosis					328			5		0	0	1	0	0
PDIA2	64714	broad.mit.edu	37	16	335423	335423	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr16:335423C>T	uc002cgn.1	+	10	2015	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.R303C|PDIA2_uc010bqt.1_Missense_Mutation_p.R148C	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	303					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding	p.R303C(2)		breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGCAGCTCCCCGCTTCCGGGG	0.677000														17			4		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115401143	115401143	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr10:115401143A>G	uc001lal.3	-	12	1468	c.1304T>C	c.(1303-1305)gTt>gCt	p.V435A	NRAP_uc001laj.3_Missense_Mutation_p.V435A|NRAP_uc001lak.3_Missense_Mutation_p.V400A	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	435						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGGCTGCCAACTTTCATAGC	0.463000														16			20		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57512670	57512670	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:57512670G>A	uc003pdx.3	+	14	1582	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	500					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	p.G500R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GGATATGGAAGGACTAGAGGA	0.403000														274			30		0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12091833	12091833	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:12091833C>T	uc001ato.2	+	9	1528	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	379										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCCCCAGGTCCCTCGGCCCCA	0.672000														88			38		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72997587	72997588	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr18:72997587_72997588GT>AA	uc002lly.3	+	1	653_654	c.90_91GT>AA	c.(88-93)gggtcg>ggAAcg	p.S31T	TSHZ1_uc021uln.1_Missense_Mutation_p.S31T	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	76						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCGGCTACGGGTCGCCCTTCAG	0.569000														23			17		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120764302	120764302	+	Silent	SNP	T	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:120764302T>C	uc003eec.4	+	4	530	c.390T>C	c.(388-390)agT>agC	p.S130S	STXBP5L_uc011bji.2_Silent_p.S130S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	130					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCAGTGCAAGTTCAGATGATA	0.348000														63			32		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11288973	11288973	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:11288973C>T	uc001asd.3	-	18	2903	c.2782G>A	c.(2782-2784)Gac>Aac	p.D928N		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	928					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GTGCTATAGTCAGCTAGGACA	0.478000														43			21		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36085069	36085069	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr4:36085069T>C	uc003gsq.2	-	28	4767	c.4429A>G	c.(4429-4431)Agt>Ggt	p.S1477G		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1477	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCATGTTTACTACTCTGTAAG	0.308000														10			4		0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89424928	89424928	+	Silent	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr15:89424928C>T	uc002bnd.3	-	3	420	c.339G>A	c.(337-339)gtG>gtA	p.V113V	HAPLN3_uc002bnc.3_Silent_p.V51V|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	51	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CGGGTGTCTCCACCACCAGCT	0.637000														54			25		0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648310	130648310	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr12:130648310G>A	uc001uii.3	+	0	1307	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	275					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGTCTACTCCGTGGGCTACCT	0.662000														155			6		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612036	189612036	+	Silent	SNP	G	A	A	rs148577576	byFrequency	TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:189612036G>A	uc003fry.2	+	13	1877	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Silent_p.A502A|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Silent_p.A417A	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	596	SAM.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTCGACATGCGATCTGGAAGG	0.532000										HNSCC(45;0.13)				43			16		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160858126	160858126	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:160858126C>G	uc003qti.3	+	6	1198	c.1171C>G	c.(1171-1173)Ctg>Gtg	p.L391V	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	391						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CGTGGTGGAACTGCCAGGAGC	0.532000														87			4		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150722469	150722469	+	Silent	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:150722469C>T	uc003lty.3	-	3	550	c.420G>A	c.(418-420)caG>caA	p.Q140Q	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_5'UTR|SLC36A2_uc010jhv.2_Silent_p.Q140Q|SLC36A2_uc011dct.1_Silent_p.Q140Q	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	140					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCGTGATTCTGGAGCCAGG	0.537000														30			7		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385074	41385074	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr21:41385074C>T	uc002yyq.1	-	32	6378	c.5926G>A	c.(5926-5928)Gga>Aga	p.G1976R	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1976				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.G1976G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCTCTGCTCCCTCCCGCTGA	0.597000														28			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140789041	140789041	+	Silent	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:140789041C>T	uc003lkj.2	+	0	1272	c.1272C>T	c.(1270-1272)gcC>gcT	p.A424A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Silent_p.A424A	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	426	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCGTAGCCACTGACAGGG	0.493000														19			16		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185167818	185167818	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:185167818G>A	uc010hyf.3	+	6	1432	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R	MAP3K13_uc011brt.2_Missense_Mutation_p.G174R|MAP3K13_uc003fph.4_Missense_Mutation_p.G149R|MAP3K13_uc011bru.2_Missense_Mutation_p.G237R|MAP3K13_uc003fpi.3_Missense_Mutation_p.G381R|MAP3K13_uc010hyg.3_Missense_Mutation_p.G71R	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	381	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTGCCCTGATGGATTCAAAAT	0.428000														59			20		0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4937824	4937824	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:4937824T>C	uc003mwi.3	+	5	1267	c.1136T>C	c.(1135-1137)cTg>cCg	p.L379P	CDYL_uc003mwj.3_Missense_Mutation_p.L325P|CDYL_uc003mwk.3_Missense_Mutation_p.L90P|CDYL_uc011dhx.2_Missense_Mutation_p.L193P|CDYL_uc011dhy.2_Missense_Mutation_p.L193P	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	379					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CAGAGTGCTCTGAGCACGGCC	0.433000														24			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067504	9067504	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:9067504C>A	uc002mkp.3	-	2	20146	c.19942G>T	c.(19942-19944)Gag>Tag	p.E6648*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6650	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTCCATCTCAATCCTTGTA	0.498000														45			24		1.96895e-08	2.02364e-08	1	1	0
KEL	3792	broad.mit.edu	37	7	142658514	142658514	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:142658514G>A	uc003wcb.3	-	2	366	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	52					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAAAATCAGGATAGCTGTCA	0.552000														19			11		0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46108032	46108032	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:46108032C>T	uc003oxy.3	+	1	971	c.712C>T	c.(712-714)Cat>Tat	p.H238Y		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	238						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TACAAGTGATCATGGGATGAC	0.398000														44			25		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703685	55703685	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:55703685G>A	uc010ris.2	-	0	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGTTGCTAAGGAAAAAATACA	0.373000														28			11		0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11356956	11356956	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:11356956C>A	uc003bwc.3	+	6	784	c.667C>A	c.(667-669)Caa>Aaa	p.Q223K	ATG7_uc003bwd.3_Missense_Mutation_p.Q223K|ATG7_uc011aum.2_Missense_Mutation_p.Q184K	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	223					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CTTCCAAGGTCAAAGGACGAA	0.343000														32			4		2.56e-06	2.59507e-06	1	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr2:207025366G>A	uc002vbg.1	+	2	247	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Silent_p.P45P|EEF1B2_uc002vbh.1_Silent_p.P45P|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(10)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000														61			3		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990574	63990574	+	Silent	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:63990574C>T	uc003peh.3	-	3	916	c.882G>A	c.(880-882)agG>agA	p.R294R	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	294					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AATTATATTTCCTTGCCACTT	0.418000														18			11		0	0	1	0	0
RRM2B	50484	broad.mit.edu	37	8	103238242	103238242	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr8:103238242G>A	uc022azl.1	-	2	450	c.441C>T	c.(439-441)ctC>ctT	p.L147L	RRM2B_uc003ykn.3_Silent_p.L75L|RRM2B_uc010mbv.2_Silent_p.L23L|RRM2B_uc003yko.3_Non-coding_Transcript|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_001172477	NP_001165948	Q7LG56	RIR2B_HUMAN	Homo sapiens ribonucleotide reductase M2 B (TP53 inducible) (RRM2B), transcript variant 2, mRNA.	75					DNA repair|deoxyribonucleoside diphosphate metabolic process|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			TCCAGTGAGGGAGATCCTTTG	0.338000								Modulation of nucleotide pools						30			20		0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346493	29346493	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr15:29346493G>C	uc001zck.3	+	2	610	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	APBA2_uc010azj.2_Missense_Mutation_p.E136Q|APBA2_uc010uat.2_Missense_Mutation_p.E136Q|APBA2_uc001zcl.3_Missense_Mutation_p.E136Q|APBA2_uc010uas.1_Missense_Mutation_p.E136Q	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	136					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGAGTGCCAGGAGGCGGTGGA	0.662000														47			6		0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457571	107457571	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr9:107457571T>G	uc011lvs.2	+	0	869	c.869T>G	c.(868-870)aTg>aGg	p.M290R		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GCCCTTTTTATGTACATGAAA	0.408000														30			32		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562762	11562762	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:11562762C>T	uc001ash.4	+	2	1262	c.1124C>T	c.(1123-1125)cCt>cTt	p.P375L	PTCHD2_uc001asi.1_Missense_Mutation_p.P375L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	375					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ATGACTCACCCTGAGTTCTAC	0.597000														27			7		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127611782	127611782	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:127611782C>G	uc003kuu.3	-	58	7981	c.7542G>C	c.(7540-7542)caG>caC	p.Q2514H		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2514	EGF-like 42; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACATGAACACTGATAACTCC	0.443000														96			33		0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71478001	71478001	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:71478001C>T	uc001dfn.3	-	1	1295	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	PTGER3_uc001dfg.1_Missense_Mutation_p.R355Q|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfk.1_Missense_Mutation_p.R355Q|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.R355Q|PTGER3_uc009wbm.1_Missense_Mutation_p.R355Q|PTGER3_uc001dfm.1_Non-coding_Transcript|PTGER3_uc009wbn.2_Missense_Mutation_p.R355Q|PTGER3_uc009wbo.3_Missense_Mutation_p.R355Q|PTGER3_uc001dfo.3_Missense_Mutation_p.R355Q|PTGER3_uc001dfp.1_Missense_Mutation_p.R355Q|PTGER3_uc001dfq.3_Missense_Mutation_p.R355Q	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	355					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GCAAAACTTTCGAAGAAGGAT	0.423000														28			13		0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32647839	32647839	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr22:32647839C>T	uc003ami.3	-	2	232	c.230G>A	c.(229-231)aGt>aAt	p.S77N		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	77					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCCGATGTTACTGGCAAAGAG	0.488000														42			13		0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18919380	18919380	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr21:18919380G>A	uc002yki.3	+	1	303	c.79G>A	c.(79-81)Gag>Aag	p.E27K	CXADR_uc002ykh.2_Missense_Mutation_p.E27K|CXADR_uc010gld.2_Missense_Mutation_p.E27K|CXADR_uc010gle.2_Missense_Mutation_p.E27K|CXADR_uc021whp.1_Missense_Mutation_p.E27K|CXADR_uc002ykj.2_Missense_Mutation_p.E27K	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	27	Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TACTCCTGAAGAGATGATTGA	0.478000														46			22		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373155	86373155	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr12:86373155G>A	uc010sum.2	-	5	1580	c.1421C>T	c.(1420-1422)cCa>cTa	p.P474L	MGAT4C_uc001tal.4_Missense_Mutation_p.P450L|MGAT4C_uc001taj.4_Missense_Mutation_p.P450L|MGAT4C_uc001tak.4_Missense_Mutation_p.P450L|MGAT4C_uc001tai.4_Missense_Mutation_p.P450L|MGAT4C_uc001tah.4_Missense_Mutation_p.P450L	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	450					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TATATCAAATGGAATTTTTTG	0.313000														19			12		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080866	148080866	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:148080866G>A	uc003weu.2	+	21	4117	c.3601G>A	c.(3601-3603)Gct>Act	p.A1201T	CNTNAP2_uc003wev.2_5'UTR	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1201	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAACGCCTCGGCTCACGTCCA	0.632000										HNSCC(39;0.1)				26			43		0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28307054	28307054	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr21:28307054C>T	uc002ymg.3	-	3	2149	c.1420G>A	c.(1420-1422)Gac>Aac	p.D474N		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	474	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGTGGTAGGTCCAGCAAACAG	0.507000														17			11		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120594339	120594339	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr12:120594339C>T	uc001txo.3	-	27	3251	c.3238G>A	c.(3238-3240)Gag>Aag	p.E1080K	MIR4498_uc021res.1_5'Flank	NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1080					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCCTGCTCTGCAAAGGCA	0.597000														19			7		0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31475299	31475299	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:31475299G>T	uc003ntn.4	+	4	1131	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	MICB_uc011dnm.2_Nonsense_Mutation_p.E307*|MICB_uc003nto.4_Nonsense_Mutation_p.E296*	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	339					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ATCAGCGGCAGAGGGTCCAGG	0.468000														36			10		3.03607e-14	3.16436e-14	1	1	0
HEATR8	374977	broad.mit.edu	37	1	55118697	55118697	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:55118697C>T	uc010ooe.1	+	2	422	c.98C>T	c.(97-99)aCc>aTc	p.T33I	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.T33I|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.T33I|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	33						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGGTCTGGTACCATCCCTCAG	0.562000														40			19		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940288	144940288	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr8:144940288G>T	uc003zaa.1	-	0	7147	c.7134C>A	c.(7132-7134)gaC>gaA	p.D2378E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2378						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTCGCTGGGGTCGGCCAGGA	0.687000														737			36		3.3946e-10	3.51329e-10	1	1	0
EIF3H	8667	broad.mit.edu	37	8	117658843	117658843	+	Splice_Site	SNP	C	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr8:117658843C>A	uc003yob.3	-	9	1638	c.871_splice	c.e9-1	p.Y291_splice	EIF3H_uc003yoa.3_Splice_Site_p.Y277_splice	NM_003756	NP_003747	O15372	EIF3H_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit H (EIF3H), mRNA.	277					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GCTGCTGATACTAAAATTCAA	0.507000														101			38		9.8876e-21	1.04526e-20	1	1	0
TOB2	10766	broad.mit.edu	37	22	41832983	41832983	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr22:41832983G>A	uc003azz.1	-	1	1074	c.367C>T	c.(367-369)Cca>Tca	p.P123S	TOB2_uc021wqf.1_Missense_Mutation_p.P123S	NM_016272	NP_057356	Q14106	TOB2_HUMAN	Homo sapiens transducer of ERBB2, 2 (TOB2), mRNA.	123					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TCCAGCTCTGGGGCACCGCAA	0.577000														38			21		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419995	19419995	+	RNA	SNP	C	G	G	rs78291036	by1000genomes	TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr13:19419995C>G	uc010tcj.1	-	0		c.26115G>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GAACTAAGAACAGTTAGATAA	0.294000														29			3		0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558215	159558215	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:159558215G>A	uc001ftv.3	+	1	485	c.389G>A	c.(388-390)gGg>gAg	p.G130E		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	130	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TGGATCAATGGGACACCTTTG	0.483000														21			18		0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190873424	190873424	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr4:190873424G>C	uc003izs.3	+	2	432	c.241G>C	c.(241-243)Gga>Cga	p.G81R		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	81					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTTTACCCTGGGAGCTCCACA	0.428000														95			6		0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38645149	38645149	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr17:38645149G>A	uc010cxb.3	-	2	676	c.512C>T	c.(511-513)tCt>tTt	p.S171F		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	171	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CGGGGTGACAGAGGGGCTGGA	0.597000														49			41		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577337	92577337	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:92577337G>A	uc001pdj.4	+	17	10821	c.10804G>A	c.(10804-10806)Gat>Aat	p.D3602N	FAT3_uc001pdi.4_Missense_Mutation_p.D42N	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3602	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACAGTCACGATGGGAAAAT	0.483000										TCGA Ovarian(4;0.039)				130			66		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503690	140503690	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:140503690G>A	uc003lip.1	+	0	2110	c.2110G>A	c.(2110-2112)Gtg>Atg	p.V704M		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCTTCTCGGTGCTCCTGTT	0.706000														292			20		0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	A	A	rs28392876	by1000genomes	TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:16946438G>A	uc010ocf.2	-	2		c.460C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTTCCGCCGGGCCAGCAGC	0.672000														9			5		0	0	1	0	0
SREK1	140890	broad.mit.edu	37	5	65466627	65466627	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:65466627G>A	uc003jun.3	+	8	1456	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	SREK1_uc010iwy.3_Missense_Mutation_p.D330N|SREK1_uc003juo.3_Missense_Mutation_p.D330N	NM_001077199	NP_631907	Q8WXA9	SREK1_HUMAN	Homo sapiens splicing regulatory glutamine/lysine-rich protein 1 (SREK1), transcript variant 1, mRNA.	330	Arg/Glu/Lys/Ser-rich.				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						gaaggatcgagacaaagagaa	0.403000														21			10		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69520892	69520892	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr4:69520892C>T	uc021xow.1	-	3	1172	c.1014G>A	c.(1012-1014)tgG>tgA	p.W338*		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	338					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CATCAAATCTCCATAGAACCT	0.358000														72			9		0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9862879	9862879	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:9862879C>T	uc004csu.1	+	3	1021	c.931C>T	c.(931-933)Cca>Tca	p.P311S		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	311					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GAAGAAAGCACCATCATCCCC	0.617000														26			10		0	0	1	0	0
GK	2710	broad.mit.edu	37	X	30683659	30683659	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:30683659G>A	uc022buj.1	+	1	289	c.110G>A	c.(109-111)aGt>aAt	p.S37N	GK_uc004dch.4_Missense_Mutation_p.S37N|GK_uc010ngj.3_Missense_Mutation_p.S37N|GK_uc004dci.4_Missense_Mutation_p.S37N|GK_uc011mjz.2_5'UTR|GK_uc011mka.2_5'UTR|GK_uc010ngk.3_Intron	NM_001205019	NP_001191948	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 4, mRNA.	37					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						GAACTACTTAGTCATCATCAA	0.303000														28			7		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941272	52941272	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:52941272G>A	uc002pzk.3	+	3	665	c.598G>A	c.(598-600)Gga>Aga	p.G200R	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.G187R	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AAAGCCTTATGGATGTAATGA	0.358000														57			17		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476956	20476956	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr16:20476956G>A	uc010bwe.3	+	3	534	c.295G>A	c.(295-297)Gga>Aga	p.G99R	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.G20R|ACSM2A_uc002dhf.4_Missense_Mutation_p.G99R|ACSM2A_uc002dhg.4_Missense_Mutation_p.G99R|ACSM2A_uc010vay.2_Missense_Mutation_p.G20R	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	99					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CGTCCTCTCGGGAGCCTGTGG	0.592000														37			5		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38983156	38983156	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:38983156G>A	uc002oit.3	+	37	6284	c.6154G>A	c.(6154-6156)Gaa>Aaa	p.E2052K	RYR1_uc002oiu.3_Missense_Mutation_p.E2052K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2052	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGAGGAGGAGGAACCAGAGGA	0.502000														35			11		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35624410	35624410	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr13:35624410C>T	uc021rid.1	+	5	1384	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	NBEA_uc021ric.1_Missense_Mutation_p.R284C	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	284						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGCAGTTTTCGTACTAGCAA	0.318000														19			6		0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63666126	63666126	+	Silent	SNP	C	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:63666126C>A	uc001nxw.3	+	4	963	c.384C>A	c.(382-384)gtC>gtA	p.V128V	MARK2_uc001nxv.4_Silent_p.V128V|MARK2_uc001nxx.3_Silent_p.V128V|MARK2_uc001nxy.3_Silent_p.V128V|MARK2_uc001nxz.4_Silent_p.V95V|MARK2_uc009yoy.3_Silent_p.V95V	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	128	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTACCTTGTCATGGAGTACG	0.502000														38			27		8.16721e-17	8.57267e-17	1	1	0
BCKDHA	593	broad.mit.edu	37	19	41889651	41889651	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:41889651A>G	uc002oqk.4	+	3	743	c.392A>G	c.(391-393)cAg>cGg	p.Q131R	BCKDHA_uc002oqi.3_3'UTR|BCKDHA_uc010ehq.3_Intron|BCKDHA_uc010ehr.3_Intron|BCKDHA_uc010eht.3_Intron|BCKDHA_uc010ehs.3_Intron|BCKDHA_uc002oqm.4_Intron|BCKDHA_uc002oqn.3_3'UTR	NM_001098821	NP_001092291	P12694	ODBA_HUMAN	Homo sapiens transmembrane protein 91 (TMEM91), transcript variant 1, mRNA.	236					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGGGACATCCAGGGGGCAGGG	0.706000														25			6		0	0	1	0	0
IDH3G	3421	broad.mit.edu	37	X	153053383	153053383	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:153053383G>A	uc004fip.3	-	6	621	c.435C>T	c.(433-435)gtC>gtT	p.V145V	IDH3G_uc004fiq.3_Silent_p.V145V|IDH3G_uc004fit.1_Silent_p.V145V|IDH3G_uc004fiu.3_5'Flank	NM_004135	NP_004126	P51553	IDH3G_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) gamma (IDH3G), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	145					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TACAGTGGATGACGTTGGCAT	0.607000														122			7		0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202569531	202569531	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:202569531G>C	uc001gye.3	-	6	1066	c.873C>G	c.(871-873)atC>atG	p.I291M	SYT2_uc010pqb.2_Missense_Mutation_p.I291M|SYT2_uc009xaf.3_Missense_Mutation_p.I121M	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	291	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TAGCCTCCAGGATGCAGACAG	0.622000											OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			30		0	0	1	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000														29			4		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31537407	31537407	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr18:31537407G>A	uc010dmi.3	-	7	1609	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	NOL4_uc010xbs.2_Silent_p.I152I|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Silent_p.I363I|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	437						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGATAGCCTGGATCTTTTCTT	0.473000														27			15		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238844	48238844	+	Silent	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:48238844C>T	uc010rhs.2	+	0	483	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTCTCGTTATCATCCAATTGC	0.473000														58			30		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881855	69881855	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr10:69881855G>A	uc001jnm.4	+	2	845	c.660G>A	c.(658-660)agG>agA	p.R220R	MYPN_uc001jnl.1_Silent_p.R220R|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Silent_p.R220R|MYPN_uc001jnp.1_Silent_p.R220R|MYPN_uc009xps.3_Silent_p.R220R|MYPN_uc009xpt.3_Silent_p.R220R|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	220	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CGGATACCAGGGATAATGAAG	0.522000														13			10		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72172810	72172810	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr15:72172810G>A	uc002atl.4	-	28	5961	c.5488C>T	c.(5488-5490)Cca>Tca	p.P1830S	MYO9A_uc002atk.3_Missense_Mutation_p.P625S|MYO9A_uc002atm.1_Missense_Mutation_p.P626S	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1830	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTAGCCTTTGGAGAAGGTTCT	0.458000														62			18		0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63412221	63412221	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:63412221C>T	uc022byb.1	-	0	946	c.946G>A	c.(946-948)Gtg>Atg	p.V316M	FAM123B_uc004dvo.3_Missense_Mutation_p.V316M	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	316					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						AGGGATGTCACATCCCCAAAC	0.537000														122			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347662	140347662	+	Silent	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:140347662C>T	uc003lii.3	+	0	1916	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.I437I	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	437	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTACAACATCACGGTGACAG	0.552000														89			35		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682001	100682001	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:100682001G>T	uc003uxp.1	+	2	7357	c.7304G>T	c.(7303-7305)aGt>aTt	p.S2435I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2435	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTGAAGCCAGTTCATCTCCT	0.547000														330			80		1.88935e-48	2.01169e-48	1	1	0
SKIL	6498	broad.mit.edu	37	3	170108972	170108972	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:170108972T>A	uc003fgu.3	+	5	2532	c.1820T>A	c.(1819-1821)tTg>tAg	p.L607*	SKIL_uc011bps.2_Nonsense_Mutation_p.L587*|SKIL_uc003fgv.3_Nonsense_Mutation_p.L561*|SKIL_uc003fgw.3_Nonsense_Mutation_p.L607*	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	607					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GAGAAAAAATTGGAGCAGATA	0.333000														21			7		0	0	1	0	0
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308000														56			3		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21422579	21422579	+	Silent	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr18:21422579C>T	uc002kuq.3	+	28	3554	c.3468C>T	c.(3466-3468)tcC>tcT	p.S1156S	LAMA3_uc002kur.3_Silent_p.S1156S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1156	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCAGGCTCCTTCCATGCCT	0.577000														50			32		0	0	1	0	0
ATP5H	10476	broad.mit.edu	37	17	73035062	73035062	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr17:73035062G>A	uc002jmn.1	-	5	515	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.3_Intron|ATP5H_uc002jmo.1_Missense_Mutation_p.P127S|Metazoa_SRP_uc021ucv.1_5'Flank	NM_006356	NP_006347	O75947	ATP5H_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d (ATP5H), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	151					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2	all_lung(278;0.226)					GGCCAATAGGGATACTTTTTC	0.363000														51			15		0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056138	26056138	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:26056138G>A	uc003nfw.3	-	0	562	c.519C>T	c.(517-519)agC>agT	p.S173S		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	173					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CCTTCTTTGGGCTCTTAGCCA	0.562000														153			5		0	0	1	0	0
MSTO1	55154	broad.mit.edu	37	1	155582013	155582013	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:155582013G>A	uc001fky.3	+	7	752	c.719G>A	c.(718-720)gGg>gAg	p.G240E	MSTO1_uc001fkw.3_Missense_Mutation_p.G240E|MSTO1_uc001fkx.3_Missense_Mutation_p.G240E|MSTO1_uc001fld.4_Missense_Mutation_p.G62E|MSTO1_uc009wqs.3_Missense_Mutation_p.G119E|MSTO1_uc010pgf.2_Missense_Mutation_p.G185E|MSTO1_uc001fla.3_Missense_Mutation_p.G59E|MSTO1_uc001flb.3_Missense_Mutation_p.G109E|MSTO1_uc001flc.3_Missense_Mutation_p.G62E	NM_018116	NP_060586	Q9BUK6	MSTO1_HUMAN	Homo sapiens misato homolog 1 (Drosophila) (MSTO1), mRNA.	240					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GGCTTCTCTGGGGTAGGCGCG	0.567000														25			11		0	0	1	0	0
PDC	5132	broad.mit.edu	37	1	186415629	186415629	+	Missense_Mutation	SNP	C	T	T	rs141620121		TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:186415629C>T	uc001gsa.3	-	2	215	c.142G>A	c.(142-144)Gag>Aag	p.E48K	MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_5'UTR	NM_002597	NP_072098	P20941	PHOS_HUMAN	Homo sapiens phosducin (PDC), transcript variant 1, mRNA.	48					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	p.E48K(2)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		CTGAGAATCTCCTTCTTGCTA	0.353000														40			19		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876476	35876476	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr5:35876476C>T	uc003jjs.3	+	7	1357	c.1268C>T	c.(1267-1269)tCt>tTt	p.S423F	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	423					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCTCTCCAATCTGGAATCCTG	0.512000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							22			18		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432372	10432372	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr17:10432372C>T	uc010coi.3	-	26	3507	c.3379G>A	c.(3379-3381)Gaa>Aaa	p.E1127K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1127K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1127					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCTCGATTTCCTCCTCCAGC	0.572000														39			15		0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35443640	35443640	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr20:35443640G>A	uc021wcx.1	-	4	2545	c.2205C>T	c.(2203-2205)ctC>ctT	p.L735L	SOGA1_uc002xgd.1_Silent_p.L497L	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	497										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CAGAGCACCCGAGGACTGCAT	0.602000														64			35		0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895859	24895859	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr13:24895859G>A	uc001upj.3	+	3	1016	c.955G>A	c.(955-957)Gac>Aac	p.D319N	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	319	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		TGCTGATGAGGACGATGACAC	0.542000														81			22		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566966	4566966	+	Silent	SNP	T	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:4566966T>C	uc010qyf.2	+	0	546	c.546T>C	c.(544-546)tgT>tgC	p.C182C		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTCCTACTGTGAGCACATGG	0.527000														67			33		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932226	32932226	+	Nonsense_Mutation	SNP	T	G	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:32932226T>G	uc003cff.3	+	3	1593	c.1530T>G	c.(1528-1530)taT>taG	p.Y510*		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	510					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATTGGTTATGACCACGATG	0.612000														22			11		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964580	48964580	+	Silent	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:48964580C>T	uc010kyv.1	+	0	424	c.312C>T	c.(310-312)ttC>ttT	p.F104F						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		ATGCTGCCTTCCTTGTTGGAT	0.358000														29			21		0	0	1	0	0
BC128131	0	broad.mit.edu	37	19	23159264	23159264	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:23159264G>C	uc002nqz.1	-	1	709	c.683C>G	c.(682-684)gCc>gGc	p.A228G	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		CTTACTAAAGGCTTTGCCACA	0.448000														40			6		0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290762	5290762	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:5290762C>T	uc001mal.1	-	1	503	c.237G>A	c.(235-237)atG>atA	p.M79I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.M79I	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	79					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGGTTGTCCATGTTTTTAA	0.522000														55			14		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20939745	20939745	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:20939745G>A	uc009yid.3	+	6	858	c.705G>A	c.(703-705)ggG>ggA	p.G235G	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Silent_p.G207G|NELL1_uc001mqf.3_Silent_p.G207G|NELL1_uc010rdo.2_Silent_p.G150G	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	207					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCCAAGATGGGAAGATCATCT	0.378000														56			20		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21438729	21438729	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr18:21438729G>A	uc002kuq.3	+	33	4444	c.4358G>A	c.(4357-4359)tGt>tAt	p.C1453Y	LAMA3_uc002kur.3_Missense_Mutation_p.C1453Y	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1453	Domain III B.|Laminin EGF-like 12.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCAAGGGTTGTACCAGCTGT	0.408000														90			6		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					50			39		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086268	56086268	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr11:56086268G>A	uc010rjf.2	+	0	486	c.486G>A	c.(484-486)aaG>aaA	p.K162K		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCACCATAAAGATTTTTACTT	0.388000														32			12		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228494091	228494091	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:228494091G>A	uc009xez.1	+	43	11722	c.11678G>A	c.(11677-11679)cGg>cAg	p.R3893Q	OBSCN_uc001hsn.3_Missense_Mutation_p.R3893Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3893	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.R4605L(1)|p.R3893L(1)|p.R4475L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAGTGTTCCGGGAGCCGCTG	0.667000														11			7		0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793030	53793030	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr19:53793030C>T	uc002qbk.3	-	0	1846	c.598G>A	c.(598-600)Gtt>Att	p.V200I		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	200					apoptosis		zinc ion binding	p.V200G(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		GGAATAAAAACAACAGCGATA	0.448000														77			4		0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43345095	43345095	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr3:43345095C>T	uc003cms.4	+	2	732	c.400C>T	c.(400-402)Cat>Tat	p.H134Y	SNRK_uc003cmt.4_Missense_Mutation_p.H134Y|SNRK_uc010hik.3_Missense_Mutation_p.H134Y|SNRK_uc011azr.2_Intron|SNRK_uc003cmu.3_Missense_Mutation_p.H134Y	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	134	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CCATAAACTCCATGTGGTTCA	0.358000														38			24		0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35426104	35426104	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr6:35426104C>T	uc003oko.1	+	4	1185	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	FANCE_uc010jvw.1_Missense_Mutation_p.P327S	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	334	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GCTGCAGCTCCCTCAGCTCTC	0.607000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					91			48		0	0	1	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163401	163401	+	RNA	SNP	G	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr8:163401G>C	uc010lra.3	-	3		c.732C>G			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		TCTGGTGCTTGTTGGCTTTAA	0.463000														13			3		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156814331	156814331	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr1:156814331G>A	uc010pht.2	-	13	2959	c.2660C>T	c.(2659-2661)tCt>tTt	p.S887F	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	887	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.S887C(3)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AACCCTGGCAGAGTAGTTTCC	0.572000														28			14		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr2:107049681T>C	uc010ywi.1	-	15	2323	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	756					intracellular transport		binding	p.N756D(9)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000														155			5		0	0	1	0	0
PGAM4	441531	broad.mit.edu	37	X	77224485	77224485	+	Silent	SNP	G	A	A			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chrX:77224485G>A	uc004ecy.1	-	0	651	c.651C>T	c.(649-651)gtC>gtT	p.V217V	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.4_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	Homo sapiens phosphoglycerate mutase family member 4 (PGAM4), mRNA.	217					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CCAATTCATAGACGATGGGAA	0.542000														84			30		0	0	1	0	0
DUSP6	1848	broad.mit.edu	37	12	89745740	89745741	+	Frame_Shift_Ins	INS	-	G	G			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr12:89745740_89745741insG	uc001tay.3	-	0	556_557	c.76_77insC	c.(76-78)cagfs	p.Q26fs	DUSP6_uc001taz.3_Frame_Shift_Ins_p.Q26fs	NM_001946	NP_001937	Q16828	DUS6_HUMAN	Homo sapiens dual specificity phosphatase 6 (DUSP6), transcript variant 1, mRNA.	26					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CAGCTCCAGCTGCTCGTTGAGC	0.649													---	39	---	---	20	---					
MIR1827	100302217	broad.mit.edu	37	12	100583704	100583704	+	RNA	DEL	A	-	-			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr12:100583704delA	uc021rco.1	+	0		c.43delA								Homo sapiens microRNA 1827 (MIR1827), microRNA.																		GAAGCCTCTGAAAGGCTGAGG	0.552													---	4	---	---	2	---					
TOP1	7150	broad.mit.edu	37	20	39721212	39721213	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-D3-A51N-06A-11D-A25O-08	TCGA-D3-A51N-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	E6060B74-8D26-4958-BA90-E67190095211	DA260899-7399-4C79-BACD-7086CDBECC4F	g.chr20:39721212_39721213delAA	uc002xjl.3	+	8	961_962	c.715_716delAA	c.(715-717)aagfs	p.K239fs	TOP1_uc010gge.1_Non-coding_Transcript	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	239					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	AGAGAATGTCAAGTTTTATTAT	0.411			T	NUP98	AML*								---	71	---	---	8	---