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
GALNT2	2590	broad.mit.edu	37	1	230385000	230385000	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr1:230385000C>A	uc010pwa.1	+	8	960	c.888C>A	c.(886-888)aaC>aaA	p.N296K	GALNT2_uc010pvy.1_Missense_Mutation_p.N258K|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	296					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGCAGGGGAACCCAGTCGCCC	0.567000														11			17		1.15088e-07	1.21382e-07	0.028581	1	0
PSTK	118672	broad.mit.edu	37	10	124740205	124740205	+	Silent	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr10:124740205A>G	uc001lgy.1	+	0	650	c.210A>G	c.(208-210)cgA>cgG	p.R70R		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	Homo sapiens phosphoseryl-tRNA kinase (PSTK), mRNA.	70							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		CAAGAGCGCGACCGGCGGTCA	0.756000											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		5			4		0	0	0.009096	0	0
RRP15	51018	broad.mit.edu	37	1	218480910	218480910	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr1:218480910T>G	uc001hlj.3	+	3	671	c.641T>G	c.(640-642)tTg>tGg	p.L214W		NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN	Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA.	214						mitochondrion|nucleolus	protein binding	p.L214F(2)	ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		ATCAGTGTTTTGAGAGGGATG	0.373000														4			21		0	0	0.062417	0	0
SLC6A12	6539	broad.mit.edu	37	12	308019	308019	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:308019A>T	uc001qhz.3	-	8	1454	c.790T>A	c.(790-792)Tac>Aac	p.Y264N	SLC6A12_uc001qhy.3_5'UTR|SLC6A12_uc001qia.3_Missense_Mutation_p.Y264N|SLC6A12_uc001qib.3_Missense_Mutation_p.Y264N|SLC6A12_uc009zdh.2_Missense_Mutation_p.Y264N	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	264					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A263S(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATGCCCTGGTAGGCTCCGGGA	0.562000														56			63		0	0	0.048971	0	0
CHRNA1	1134	broad.mit.edu	37	2	175624262	175624262	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr2:175624262A>T	uc002ujd.2	-	1	221	c.143T>A	c.(142-144)gTc>gAc	p.V48D	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.V48D|CHRNA1_uc002ujf.4_Missense_Mutation_p.V48D	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	48					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GACCTCCACGACCTGGCGGTG	0.617000														150			77		0	0	0.048971	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1324927	1324927	+	Splice_Site	SNP	A	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr5:1324927A>T	uc003jch.3	-	11	1193	c.1147_splice	c.e11-1	p.F383_splice	CLPTM1L_uc003jcg.3_Splice_Site_p.F214_splice	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	383					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GTAAGTGCCAAACTGTTGTGA	0.488000														44			37		0	0	0.074837	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118173	118173	+	RNA	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chrGL000205.1:118173A>G	uc002kgk.4	+	0		c.1551A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGATCCGCCAAGCCATCATA	0.493000														27			4		0	0	0.014758	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773825	25773825	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr6:25773825G>A	uc003nfe.3	+	7	1029	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	SLC17A4_uc011djx.2_Intron|SLC17A4_uc003nff.1_Missense_Mutation_p.E65K|SLC17A4_uc003nfg.3_Missense_Mutation_p.E241K|SLC17A4_uc010jqa.3_Missense_Mutation_p.E17K	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	304					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTATTTCTGTGAATACTGGCT	0.443000														55			34		0	0	0.054565	0	0
SEC13	6396	broad.mit.edu	37	3	10342967	10342967	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:10342967T>C	uc003bvn.3	-	8	1069	c.947A>G	c.(946-948)gAg>gGg	p.E316G	SEC13_uc003bvl.3_Missense_Mutation_p.E248G|SEC13_uc003bvm.3_Missense_Mutation_p.E302G|SEC13_uc003bvp.3_Missense_Mutation_p.E319G|SEC13_uc003bvo.3_Missense_Mutation_p.E362G	NM_183352	NP_001129704	P55735	SEC13_HUMAN	Homo sapiens SEC13 homolog (S. cerevisiae) (SEC13), transcript variant 1, mRNA.	316					COPII vesicle coating|intracellular protein transport|mRNA transport|mitotic prometaphase|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	ER to Golgi transport vesicle membrane|Nup107-160 complex|cytosol|endoplasmic reticulum membrane	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CTGCTGGCCCTCTGTCACTGA	0.612000														50			33		0	0	0.054565	0	0
ABHD10	55347	broad.mit.edu	37	3	111700691	111700691	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:111700691A>G	uc003dyk.4	+	1	284	c.203A>G	c.(202-204)tAt>tGt	p.Y68C	ABHD10_uc011bhq.2_Intron	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	Homo sapiens abhydrolase domain containing 10 (ABHD10), mRNA.	68						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						AACCTGGCTTATAAGAAGCTA	0.378000														68			53		0	0	0.048971	0	0
SLC35F2	54733	broad.mit.edu	37	11	107677532	107677532	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr11:107677532A>C	uc001pjq.3	-	3	906	c.485T>G	c.(484-486)gTg>gGg	p.V162G	SLC35F2_uc010rvu.2_Missense_Mutation_p.V14G|SLC35F2_uc001pjs.3_Missense_Mutation_p.V162G	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA.	162					transport	integral to membrane		p.R161K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GAAGTGGATCACTCTGTATCT	0.463000														43			23		0	0	0.021523	0	0
MICAL3	57553	broad.mit.edu	37	22	18293513	18293513	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr22:18293513T>C	uc002zng.4	-	27	5865	c.5512A>G	c.(5512-5514)Aga>Gga	p.R1838G	MICAL3_uc011agl.2_Missense_Mutation_p.R1754G|MICAL3_uc010gre.2_Non-coding_Transcript	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1838						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTGGCCTGTCTCCGAGCTGCC	0.572000														40			22		0	0	0.076483	0	0
GEM	2669	broad.mit.edu	37	8	95262646	95262646	+	Silent	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr8:95262646G>A	uc003ygi.3	-	4	907	c.783C>T	c.(781-783)agC>agT	p.S261S	GEM_uc003ygj.3_Silent_p.S261S	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	261					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding	p.E260E(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCTGGGCATGCTCTCCTTCC	0.552000														40			22		0	0	0.062417	0	0
INCENP	3619	broad.mit.edu	37	11	61912744	61912744	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr11:61912744G>A	uc001nsw.1	+	12	2021	c.1819G>A	c.(1819-1821)Gac>Aac	p.D607N	INCENP_uc009ynw.1_Missense_Mutation_p.D607N|INCENP_uc001nsx.1_Missense_Mutation_p.D603N	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	607					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTCAGATCGACGAGAAGAC	0.582000														51			44		0	0	0.036044	0	0
SEMA6A	57556	broad.mit.edu	37	5	115822558	115822558	+	Silent	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr5:115822558G>A	uc003krx.4	-	9	1558	c.849C>T	c.(847-849)tgC>tgT	p.C283C	SEMA6A_uc010jck.3_Silent_p.C283C	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	283	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAGGAACTGAGCAGTTCAAGC	0.463000														70			50		0	0	0.048971	0	0
RYR1	6261	broad.mit.edu	37	19	39058443	39058443	+	Silent	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:39058443C>T	uc002oit.3	+	92	13675	c.13545C>T	c.(13543-13545)ccC>ccT	p.P4515P	RYR1_uc002oiu.3_Silent_p.P4510P	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4515	Pro-rich.				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)	AAGAAGTTCCCGAGCCCACAC	0.577000														51			20		0	0	0.062417	0	0
HUNK	30811	broad.mit.edu	37	21	33371363	33371363	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr21:33371363A>C	uc002yph.3	+	10	2371	c.2011A>C	c.(2011-2013)Atg>Ctg	p.M671L		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	671					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CATCGGACAGATGTTAAGGAA	0.617000														67			36		0	0	0.054565	0	0
KDELR3	11015	broad.mit.edu	37	22	38875733	38875733	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr22:38875733A>G	uc003avu.3	+	2	484	c.328A>G	c.(328-330)Aac>Gac	p.N110D	KDELR3_uc003avv.3_Missense_Mutation_p.N110D	NM_016657	NP_057839	O43731	ERD23_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 2, mRNA.	110					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CTTCCTTGAAAACTACAGTTT	0.473000														182			146		0	0	0.048971	0	0
DIP2B	57609	broad.mit.edu	37	12	51092173	51092173	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:51092173A>G	uc001rwv.3	+	17	2267	c.2111A>G	c.(2110-2112)tAt>tGt	p.Y704C	DIP2B_uc009zlt.3_Missense_Mutation_p.Y134C	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	704						nucleus	catalytic activity|transcription factor binding	p.S703R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGATTGAGCTATGGGGTAATA	0.463000														62			36		0	0	0.064281	0	0
IPO13	9670	broad.mit.edu	37	1	44423086	44423086	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr1:44423086C>A	uc001ckx.3	+	6	2200	c.1405C>A	c.(1405-1407)Ctc>Atc	p.L469I		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	469					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CACAGAGGCCCTCCTCTACGG	0.572000														14			48		5.73435e-26	6.45114e-26	0.048971	1	0
GPR162	27239	broad.mit.edu	37	12	6933600	6933600	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:6933600T>C	uc001qqw.1	+	1	1071	c.536T>C	c.(535-537)tTt>tCt	p.F179S	GPR162_uc010sfn.1_Missense_Mutation_p.F179S|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	179						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GGCCTCGGCTTTGGCGTTTGC	0.597000														53			33		0	0	0.064281	0	0
CUL4A	8451	broad.mit.edu	37	13	113915023	113915023	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr13:113915023C>G	uc021rmv.1	+	18	2145	c.2134C>G	c.(2134-2136)Cat>Gat	p.H712D	CUL4A_uc021rmu.1_Missense_Mutation_p.H612D|CUL4A_uc010agu.3_Missense_Mutation_p.H573D|CUL4A_uc010tjz.2_Missense_Mutation_p.H391D	NM_001008895	NP_003580	Q13619	CUL4A_HUMAN	Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.	712					DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GACTCTTGGTCATAATCTTCT	0.328000														16			13		0	0	0.013537	0	0
PSME4	23198	broad.mit.edu	37	2	54176408	54176408	+	Silent	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr2:54176408A>G	uc002rxp.2	-	1	311	c.255T>C	c.(253-255)ctT>ctC	p.L85L	PSME4_uc010yop.1_5'UTR|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_5'UTR|PSME4_uc021vho.1_Silent_p.L85L	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	85					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCTCCCATAAAGTCGAatat	0.333000														23			9		0	0	0.047766	0	0
SLC43A1	8501	broad.mit.edu	37	11	57256737	57256737	+	Missense_Mutation	SNP	T	C	C	rs116416099	by1000genomes	TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr11:57256737T>C	uc001nkk.3	-	11	1440	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S	SLC43A1_uc001nkl.3_Missense_Mutation_p.N441S	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	441					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GAGGTGTAAGTTGTTGATGAG	0.567000														52			34		0	0	0.050027	0	0
KIAA1549	57670	broad.mit.edu	37	7	138597164	138597164	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr7:138597164A>C	uc011kql.2	-	2	2970	c.2921T>G	c.(2920-2922)aTc>aGc	p.I974S	KIAA1549_uc011kqj.2_Missense_Mutation_p.I974S	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	974						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TACTTCTTTGATTGCTGTAAT	0.463000			O	BRAF	pilocytic astrocytoma									22			35		0	0	0.050027	0	0
EED	8726	broad.mit.edu	37	11	85956385	85956385	+	Splice_Site	SNP	T	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr11:85956385T>A	uc001pbp.3	+	1	580	c.114_splice	c.e1+1	p.N38_splice	EED_uc010rtm.2_Splice_Site_p.N38_splice|EED_uc001pbq.3_Splice_Site_p.N38_splice|EED_uc001pbr.3_Splice_Site_p.N38_splice	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	38					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GAGACGAGAATGTAAGTGCAG	0.572000														18			17		0	0	0.028581	0	0
RABGAP1	23637	broad.mit.edu	37	9	125751642	125751642	+	Silent	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr9:125751642C>T	uc011lzh.2	+	4	791	c.657C>T	c.(655-657)gtC>gtT	p.V219V	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Silent_p.V219V	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	219	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TCTTCTGTGTCAGAGGGCATG	0.413000														43			41		0	0	0.027894	0	0
ANXA11	311	broad.mit.edu	37	10	81927005	81927005	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr10:81927005A>C	uc010qlx.1	-	2	976	c.926T>G	c.(925-927)cTg>cGg	p.L309R	ANXA11_uc001kbq.1_Missense_Mutation_p.L209R|ANXA11_uc001kbr.1_Missense_Mutation_p.L209R|ANXA11_uc001kbs.1_Missense_Mutation_p.L209R|ANXA11_uc001kbt.1_Missense_Mutation_p.L209R|ANXA11_uc010qly.1_Missense_Mutation_p.L176R|ANXA11_uc001kbu.1_Missense_Mutation_p.L209R	NM_145869	NP_665876	P50995	ANX11_HUMAN	Homo sapiens annexin A11 (ANXA11), transcript variant c, mRNA.	209					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	S100 alpha binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGCCTTCCGCAGGACCTCGGC	0.577000														25			25		0	0	0.030593	0	0
MLLT10	8028	broad.mit.edu	37	10	22022934	22022934	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr10:22022934A>T	uc021pny.1	+	18	2734	c.2734A>T	c.(2734-2736)Att>Ttt	p.I912F	MLLT10_uc001iqs.3_Missense_Mutation_p.I928F|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Missense_Mutation_p.I912F|MLLT10_uc001ira.3_Missense_Mutation_p.I369F|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	928					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AATTAATGGCATTGTAGGAGC	0.498000			T	"""MLL, PICALM, CDK6"""	AL									40			33		0	0	0.041601	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149576654	149576654	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr7:149576654C>G	uc003wgr.3	+	3	1550	c.599C>G	c.(598-600)cCg>cGg	p.P200R	ATP6V0E2_uc003wgp.3_3'UTR|ATP6V0E2_uc003wgs.3_Missense_Mutation_p.P177R|ATP6V0E2_uc003wgq.3_Non-coding_Transcript|DQ590227_uc003wgt.1_5'Flank	NM_145230	NP_660265	Q8NHE4	VA0E2_HUMAN	Homo sapiens ATPase, H+ transporting V0 subunit e2 (ATP6V0E2), transcript variant 1, mRNA.	0					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			CTCCAATACCCGCACTGCTCT	0.637000														7			17		0	0	0.038395	0	0
PPM1A	5494	broad.mit.edu	37	14	60712638	60712638	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr14:60712638A>G	uc001xew.4	+	0	169	c.73A>G	c.(73-75)Aga>Gga	p.R25G	BC035195_uc001xev.1_5'Flank|PPM1A_uc010apn.3_5'UTR	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	82					Wnt receptor signaling pathway|cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein dephosphorylation	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		agagaaaagaagaatggggaa	0.408000														0			4		0	0	0.009096	0	0
OR13J1	392309	broad.mit.edu	37	9	35869823	35869823	+	Silent	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr9:35869823C>T	uc011lph.2	-	0	576	c.576G>A	c.(574-576)acG>acA	p.T192T		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily J, member 1 (OR13J1), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CGCTGACCGACGTGTTGCCGC	0.597000														34			16		0	0	0.024245	0	0
SAT2	112483	broad.mit.edu	37	17	7530935	7530935	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr17:7530935G>A	uc002gic.2	-	0	260	c.19C>T	c.(19-21)Cga>Tga	p.R7*	SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SAT2_uc002gib.1_Non-coding_Transcript|SHBG_uc010cmz.2_5'Flank|SHBG_uc010cmv.2_5'Flank|SHBG_uc010cmw.2_5'Flank|SHBG_uc010cmx.2_5'Flank|SHBG_uc010cmy.2_5'Flank|SHBG_uc002gid.3_5'Flank|SHBG_uc002gie.2_5'Flank|SHBG_uc010cnd.2_5'Flank|SHBG_uc010cna.2_5'Flank|SHBG_uc010vue.1_5'Flank|SHBG_uc010vuf.1_5'Flank|SHBG_uc010cnb.2_5'Flank|SHBG_uc010cnc.2_5'Flank	NM_133491	NP_597998	Q96F10	SAT2_HUMAN	Homo sapiens spermidine/spermine N1-acetyltransferase family member 2 (SAT2), mRNA.	7	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	TTGGCCTCTCGGATCCGCACG	0.632000														33			15		0	0	0.033300	0	0
DDX12P	440081	broad.mit.edu	37	12	9573224	9573224	+	RNA	SNP	C	T	T	rs7358609	by1000genomes	TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:9573224C>T	uc021qut.1	-	10		c.2174G>A			DDX12P_uc001qvx.4_Non-coding_Transcript|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		GAAACCACACCGCACAGGTTA	0.617000														66			4		0	0	0.014758	0	0
MCM3	4172	broad.mit.edu	37	6	52141973	52141973	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr6:52141973G>C	uc003pan.1	-	7	1167	c.1057C>G	c.(1057-1059)Cag>Gag	p.Q353E	MCM3_uc011dwu.1_Missense_Mutation_p.Q307E	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	353	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.Q353K(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CGCAGAAGCTGAGACTTGGCA	0.597000														25			12		0	0	0.010729	0	0
LYN	4067	broad.mit.edu	37	8	56922610	56922610	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr8:56922610C>A	uc003xsk.4	+	12	1762	c.1480C>A	c.(1480-1482)Cag>Aag	p.Q494K	LYN_uc003xsl.4_Missense_Mutation_p.Q473K	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	494	Protein kinase.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TGACTACTTACAGAGCGTCCT	0.527000														60			34		8.4185e-14	9.16531e-14	0.050027	1	0
C12orf5	57103	broad.mit.edu	37	12	4461705	4461705	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:4461705C>G	uc001qmp.3	+	5	740	c.661C>G	c.(661-663)Ctg>Gtg	p.L221V		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	Homo sapiens chromosome 12 open reading frame 5 (C12orf5), mRNA.	221						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			ACCAGCCACTCTGAGCAGATC	0.423000														55			46		0	0	0.045515	0	0
SRRM2	23524	broad.mit.edu	37	16	2812806	2812806	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr16:2812806C>G	uc002crk.3	+	10	2826	c.2277C>G	c.(2275-2277)agC>agG	p.S759R	SRRM2_uc002crj.1_Missense_Mutation_p.S663R|SRRM2_uc002crl.1_Missense_Mutation_p.S759R|SRRM2_uc010bsu.1_Missense_Mutation_p.S663R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	759	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGGCGGAGCAGGTCTCTCT	0.473000														109			156		0	0	0.048971	0	0
CACNA1A	773	broad.mit.edu	37	19	13346025	13346025	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:13346025G>A	uc002mwy.3	-	32	5367	c.5131C>T	c.(5131-5133)Cag>Tag	p.Q1711*	CACNA1A_uc002mwx.3_Nonsense_Mutation_p.Q417*|CACNA1A_uc010dzc.2_Nonsense_Mutation_p.Q1237*|CACNA1A_uc010xnd.2_Nonsense_Mutation_p.Q1714*|CACNA1A_uc021ups.1_Nonsense_Mutation_p.Q1711*|CACNA1A_uc010xne.2_Nonsense_Mutation_p.Q1714*|CACNA1A_uc010dze.2_Nonsense_Mutation_p.Q1711*|CACNA1A_uc021upt.1_Nonsense_Mutation_p.Q1712*|CACNA1A_uc002mwv.3_Nonsense_Mutation_p.Q228*	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1712					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACACTCACCTGCATCCCAATG	0.557000											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			5		0	0	0.014758	0	0
ZC3H18	124245	broad.mit.edu	37	16	88653085	88653085	+	Silent	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr16:88653085C>T	uc010voz.2	+	2	881	c.681C>T	c.(679-681)ttC>ttT	p.F227F	ZC3H18_uc021tmm.1_Silent_p.F227F|ZC3H18_uc010voy.1_Silent_p.F110F|ZC3H18_uc002fky.3_Silent_p.F227F|ZC3H18_uc010vpa.1_Silent_p.F227F	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	227						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCGGTTCTTCATGAAAGGTA	0.587000														48			17		0	0	0.033300	0	0
GRINA	2907	broad.mit.edu	37	8	145066937	145066937	+	Silent	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr8:145066937G>A	uc003zan.1	+	6	1210	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	GRINA_uc003zao.1_Silent_p.A348A|GRINA_uc003zap.1_Silent_p.A348A	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	348						integral to membrane		p.A348T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTTGCTGCGCTGAACCTGT	0.572000														37			3		0	0	0.004672	0	0
SECISBP2	79048	broad.mit.edu	37	9	91965762	91965762	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr9:91965762C>T	uc004aqj.1	+	13	2188	c.2108C>T	c.(2107-2109)tCa>tTa	p.S703L	SECISBP2_uc010mqo.1_Missense_Mutation_p.S408L|SECISBP2_uc004aqk.1_Missense_Mutation_p.S630L|SECISBP2_uc011ltk.1_Missense_Mutation_p.S702L|SECISBP2_uc011ltl.1_Missense_Mutation_p.S635L	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	703					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AAGATACAGTCAAAAGGTAAA	0.498000														32			30		0	0	0.034045	0	0
XYLB	9942	broad.mit.edu	37	3	38404484	38404484	+	Silent	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:38404484C>G	uc003cic.2	+	3	376	c.267C>G	c.(265-267)gtC>gtG	p.V89V	XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_Silent_p.V11V	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	89					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TCTCTCAAGTCCTAGCCTTGT	0.532000														55			39		0	0	0.033182	0	0
SLC38A3	10991	broad.mit.edu	37	3	50257565	50257565	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:50257565A>G	uc003cyn.4	+	15	1609	c.1468A>G	c.(1468-1470)Att>Gtt	p.I490V		NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	491					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CTTCATCATCATTGACTGGGC	0.557000														3			10		0	0	0.058154	0	0
NLRP9	338321	broad.mit.edu	37	19	56244868	56244868	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:56244868A>T	uc002qly.3	-	1	357	c.329T>A	c.(328-330)aTa>aAa	p.I110K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	110						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTTCTCCCATATGAGTTGAAA	0.363000														58			44		0	0	0.048971	0	0
OR2T3	343173	broad.mit.edu	37	1	248637256	248637256	+	Missense_Mutation	SNP	C	T	T	rs79885009	byFrequency	TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr1:248637256C>T	uc001iel.1	+	0	605	c.605C>T	c.(604-606)aCg>aTg	p.T202M		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T202T(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTATAAGACGCTCATGTAC	0.507000														26			5		0	0	0.021553	0	0
LINGO3	645191	broad.mit.edu	37	19	2290213	2290213	+	Silent	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:2290213C>T	uc010dsx.1	-	1	1691	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	SPPL2B_uc010dsw.1_Intron|LINGO3_uc021ums.1_Silent_p.P521P|AX747191_uc002lvo.1_5'UTR	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 3 (LINGO3), mRNA.	521						integral to membrane				lung(1)|urinary_tract(1)	2						TGAGGTCGAGCGGCGCGCGCA	0.706000														30			18		0	0	0.062417	0	0
ZNF461	92283	broad.mit.edu	37	19	37147417	37147417	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:37147417G>C	uc002oem.3	-	3	393	c.165C>G	c.(163-165)atC>atG	p.I55M	ZNF461_uc002oen.3_Missense_Mutation_p.I24M|ZNF461_uc010xtj.2_Missense_Mutation_p.I55M	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	Homo sapiens zinc finger protein 461 (ZNF461), mRNA.	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V54A(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCAATGAGGAGATTACGGCTG	0.443000														36			30		0	0	0.037714	0	0
ERCC2	2068	broad.mit.edu	37	19	45868315	45868315	+	Silent	SNP	G	A	A	rs139263710		TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:45868315G>A	uc002pbj.2	-	5	509	c.462C>T	c.(460-462)caC>caT	p.H154H	ERCC2_uc010ejz.2_Intron|ERCC2_uc002pbk.2_Silent_p.H130H|ERCC2_uc002pbl.4_Silent_p.H130H|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	154	Helicase ATP-binding.				UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AGAATCGGCAGTGGGGCAGGC	0.637000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					24			20		0	0	0.062417	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904139	21904139	+	RNA	SNP	T	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr17:21904139T>G	uc002gza.2	+	0		c.78T>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ccgagcaggatgaggaaacca	0.692000														68			4		0	0	0.014758	0	0
ABCB6	10058	broad.mit.edu	37	2	220075814	220075814	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr2:220075814A>G	uc002vkc.2	-	14	3764	c.1985T>C	c.(1984-1986)cTc>cCc	p.L662P	ABCB6_uc010fwe.2_Missense_Mutation_p.L616P	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	662	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGAGACCGGAGAGAGGCCTG	0.582000														69			43		0	0	0.048971	0	0
MLH1	4292	broad.mit.edu	37	3	37042512	37042512	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:37042512G>A	uc003cgl.3	+	2	472	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	MLH1_uc011aye.2_5'UTR|MLH1_uc011ayb.2_5'UTR|MLH1_uc010hge.3_Missense_Mutation_p.A92T|MLH1_uc011ayc.2_5'UTR|MLH1_uc011ayd.2_5'UTR|MLH1_uc003cgo.3_5'UTR|MLH1_uc003cgn.4_5'UTR	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	92					mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGAGGATTTAGCCAGTATTTC	0.348000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					32			34		0	0	0.023175	0	0
MZF1	7593	broad.mit.edu	37	19	59073766	59073766	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:59073766G>T	uc002qto.3	-	5	2439	c.1878C>A	c.(1876-1878)caC>caA	p.H626Q	LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Missense_Mutation_p.H626Q	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	626					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		ACTCACCGCAGTGGTAGGGCT	0.682000														5			10		0.000673444	0.000694007	0.069234	1	0
RGS7	6000	broad.mit.edu	37	1	241094065	241094065	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr1:241094065G>C	uc001hyv.2	-	5	667	c.337C>G	c.(337-339)Ccc>Gcc	p.P113A	RGS7_uc010pyh.2_Missense_Mutation_p.P87A|RGS7_uc010pyj.1_Missense_Mutation_p.P29A|RGS7_uc001hyu.2_Missense_Mutation_p.P113A|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.P113A	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	113					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CAAAAATAGGGGGTCTGCGGA	0.383000														12			62		0	0	0.048971	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000														13			3		6.4e-05	6.69767e-05	0.004672	1	0
ZNF816	125893	broad.mit.edu	37	19	53432286	53432286	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:53432286A>G	uc010eqj.3	-	3	782	c.572T>C	c.(571-573)tTg>tCg	p.L191S	ZNF816_uc002qaj.1_Missense_Mutation_p.L121S|ZNF816_uc002qak.2_Missense_Mutation_p.L175S	NM_001202473	NP_001189402	Q0VGE8	ZN816_HUMAN	Homo sapiens ZNF816-ZNF321P readthrough (ZNF816-ZNF321P), mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TTGGGATGTCAAAATTAAGGA	0.373000														98			82		0	0	0.048971	0	0
EEFSEC	60678	broad.mit.edu	37	3	127981023	127981023	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:127981023G>C	uc003eki.3	+	2	615	c.577G>C	c.(577-579)Gcc>Ccc	p.A193P		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	193						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GGGACCAGAGGCCCCCGAAAC	0.562000														82			68		0	0	0.048971	0	0
NCOR2	9612	broad.mit.edu	37	12	124887099	124887099	+	Silent	SNP	T	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:124887099T>C	uc021rga.1	-	13	1608	c.1491A>G	c.(1489-1491)caA>caG	p.Q497Q	NCOR2_uc021rgb.1_Silent_p.Q497Q|NCOR2_uc010tbb.2_Silent_p.Q497Q|NCOR2_uc010tbc.2_Silent_p.Q496Q|NCOR2_uc021rgc.1_Silent_p.Q496Q|NCOR2_uc010tba.2_Silent_p.Q497Q|NCOR2_uc001ugj.1_Silent_p.Q497Q	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	497	Poly-Gln.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity	p.Q510_P511insQQ(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgttgttgctgctgct	0.622000														3			3		0	0	0.004672	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75785104	75785104	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:75785104C>A	uc001sxr.1	+	0	216	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	CAPS2_uc001sxm.3_5'Flank|CAPS2_uc009zsa.2_5'Flank|GLIPR1L2_uc001sxp.1_Missense_Mutation_p.P70T|GLIPR1L2_uc001sxq.1_5'UTR	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 2 (GLIPR1L2), mRNA.	70						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						CGACGTCATTCCCCGAGGGTC	0.567000											OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			37		8.73648e-17	9.66742e-17	0.069456	1	0
LAMP1	3916	broad.mit.edu	37	13	113963979	113963979	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr13:113963979T>C	uc001vtm.1	+	2	486	c.205T>C	c.(205-207)Tca>Cca	p.S69P	LAMP1_uc010tka.1_Missense_Mutation_p.S69P	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	69	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGACCTGCCATCAGATGCCAC	0.423000														65			40		0	0	0.025465	0	0
SLC25A48	153328	broad.mit.edu	37	5	135207543	135207543	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr5:135207543G>T	uc003laz.1	+	4	987	c.815G>T	c.(814-816)gGt>gTt	p.G272V	SLC25A48_uc003lba.3_Intron			Q6ZT89	S2548_HUMAN	Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA.	0					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TCTTTGTTAGGTACCTACTCT	0.542000														29			27		2.12542e-12	2.27723e-12	0.030593	1	0
ZNF557	79230	broad.mit.edu	37	19	7075688	7075688	+	Silent	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr19:7075688C>G	uc002mga.3	+	3	539	c.54C>G	c.(52-54)gcC>gcG	p.A18A	ZNF557_uc002mgb.3_Splice_Site_p.A11_splice|ZNF557_uc002mgc.3_Silent_p.A18A	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		TGTTCCCAGCCTCTCAGCGAG	0.532000														52			41		0	0	0.048971	0	0
ITPR2	3709	broad.mit.edu	37	12	26809443	26809443	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:26809443C>G	uc001rhg.3	-	18	2648	c.2231G>C	c.(2230-2232)cGc>cCc	p.R744P		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	744					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGATACTGGCGATCCAAGCA	0.453000														53			25		0	0	0.021523	0	0
ZNF48	197407	broad.mit.edu	37	16	30408740	30408740	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr16:30408740G>C	uc002dya.2	+	1	545	c.169G>C	c.(169-171)Gct>Cct	p.A57P	ZNF48_uc021tgi.1_Missense_Mutation_p.A57P|ZNF48_uc021tgj.1_5'UTR|ZNF48_uc021tgk.1_Missense_Mutation_p.A57P	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGAAGATTTGGCTCCAGATCA	0.488000														138			41		0	0	0.030466	0	0
TOP3A	7156	broad.mit.edu	37	17	18181411	18181411	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr17:18181411G>A	uc002gsx.1	-	17	2634	c.2405C>T	c.(2404-2406)cCc>cTc	p.P802L	TOP3A_uc010cpz.1_Missense_Mutation_p.P254L|TOP3A_uc010vxr.1_Missense_Mutation_p.P332L|TOP3A_uc002gsw.1_Missense_Mutation_p.P254L|TOP3A_uc010vxs.1_Missense_Mutation_p.P700L	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	802					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AGCAGCCGTGGGTGGTGGGAG	0.627000														65			41		0	0	0.025465	0	0
RGNEF	64283	broad.mit.edu	37	5	73205322	73205322	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr5:73205322T>A	uc010izf.3	+	33	4423	c.4247T>A	c.(4246-4248)aTc>aAc	p.I1416N	RGNEF_uc011csq.2_Missense_Mutation_p.I1416N|RGNEF_uc021yam.1_Missense_Mutation_p.I1416N|RGNEF_uc011csr.2_Missense_Mutation_p.I1103N|RGNEF_uc003kcz.4_Missense_Mutation_p.I380N|RGNEF_uc003kda.4_Missense_Mutation_p.I336N	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	1416					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GGCCACTCTATCCTCCGAGGC	0.622000														10			9		0	0	0.058154	0	0
KDM5A	5927	broad.mit.edu	37	12	401948	401948	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:401948A>G	uc001qif.1	-	26	5206	c.4843T>C	c.(4843-4845)Tgc>Cgc	p.C1615R	KDM5A_uc021qsr.1_Missense_Mutation_p.C166R	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1615					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GGCCTTTGGCAGTTCTGTGCT	0.468000			T	NUP98	AML									90			43		0	0	0.042209	0	0
MRO	83876	broad.mit.edu	37	18	48331527	48331527	+	Silent	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr18:48331527A>G	uc010dpa.3	-	3	617	c.468T>C	c.(466-468)gaT>gaC	p.D156D	MRO_uc010xdn.2_Silent_p.D142D|MRO_uc002lew.4_Silent_p.D142D|MRO_uc010dpb.3_Silent_p.D156D|MRO_uc010dpc.3_Silent_p.D142D|MRO_uc002lex.4_Silent_p.D142D	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	142						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TACTTACGTCATCTAATAAAG	0.448000														48			9		0	0	0.034045	0	0
PRKCB	5579	broad.mit.edu	37	16	23848699	23848699	+	Silent	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr16:23848699C>T	uc002dmd.3	+	1	374	c.177C>T	c.(175-177)ggC>ggT	p.G59G	PRKCB_uc002dme.3_Silent_p.G59G	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	59					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTTGCAGGGGCTTCGGGAAGC	0.552000														118			176		0	0	0.048971	0	0
POLR2F	5435	broad.mit.edu	37	22	38355418	38355418	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr22:38355418C>G	uc003aul.3	+	2	277	c.156C>G	c.(154-156)atC>atG	p.I52M	POLR2F_uc010gxi.3_Missense_Mutation_p.H46D|AK098727_uc003aum.3_Non-coding_Transcript	NM_021974	NP_068809	P61218	RPAB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide F (POLR2F), mRNA.	52					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					AGAAGCGAATCACCACACCAT	0.577000														123			92		0	0	0.048971	0	0
MYADML	151325	broad.mit.edu	37	2	33952621	33952621	+	Silent	SNP	G	A	A	rs11684598	by1000genomes	TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr2:33952621G>A	uc002rpb.3	-	0	664	c.222C>T	c.(220-222)taC>taT	p.Y74Y						Homo sapiens myeloid-associated differentiation marker-like (MYADML), non-coding RNA.																		CTTCGGTGGCGTAAGCCACAC	0.647000														26			3		0	0	0.004672	0	0
MTMR3	8897	broad.mit.edu	37	22	30413918	30413918	+	Silent	SNP	G	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr22:30413918G>T	uc003agv.4	+	15	2005	c.1677G>T	c.(1675-1677)gtG>gtT	p.V559V	MTMR3_uc003agu.4_Silent_p.V559V|MTMR3_uc003agw.4_Silent_p.V559V	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	559	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTCCTCAGGTGCTGTACCCTG	0.552000														99			50		2.55665e-31	2.9004e-31	0.048971	1	0
ZMAT3	64393	broad.mit.edu	37	3	178785387	178785387	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:178785387C>A	uc003fjg.3	-	1	485	c.154G>T	c.(154-156)Gag>Tag	p.E52*	ZMAT3_uc003fji.3_Nonsense_Mutation_p.E52*	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	Homo sapiens zinc finger, matrin-type 3 (ZMAT3), transcript variant 1, mRNA.	52					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TTCGATAACTCTTCTTCCCCT	0.552000														72			41		2.26627e-22	2.52849e-22	0.030466	1	0
TPTE	7179	broad.mit.edu	37	21	11014987	11014987	+	RNA	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr21:11014987A>G	uc002yis.1	-	6		c.1459T>C						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATAGTTTCAATAGCAGACT	0.388000														31			3		0	0	0.004672	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	222735	222735	+	RNA	SNP	T	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chrGL000192.1:222735T>C	uc010yij.1	-	17		c.3188A>G				NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTGCTTCTGAGAGTTCTT	0.378000														3			2		0	0	0.004672	0	0
MUC21	394263	broad.mit.edu	37	6	30955264	30955264	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr6:30955264T>A	uc003nsh.2	+	1	1563	c.1312T>A	c.(1312-1314)Tct>Act	p.S438T	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S422T	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	438	Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGCCACCAACTCTGGGTCCAG	0.577000														96			71		0	0	0.048971	0	0
RDH5	5959	broad.mit.edu	37	12	56115258	56115258	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:56115258A>G	uc001shk.3	+	1	473	c.290A>G	c.(289-291)gAg>gGg	p.E97G	BLOC1S1_uc001shj.4_Intron|RDH5_uc021qyt.1_Intron|RDH5_uc010spt.1_Missense_Mutation_p.E97G|RDH5_uc010spu.1_5'UTR|RDH5_uc001shl.3_Missense_Mutation_p.E97G	NM_002905	NP_002896	Q92781	RDH1_HUMAN	Homo sapiens retinol dehydrogenase 5 (11-cis/9-cis) (RDH5), transcript variant 2, mRNA.	97					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	AAGTGGGTGGAGATGCACGTT	0.612000														53			34		0	0	0.069456	0	0
NEMF	9147	broad.mit.edu	37	14	50292672	50292672	+	Splice_Site	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr14:50292672G>A	uc010anj.1	-	16	1557	c.1489_splice	c.e16-1	p.A497_splice	NEMF_uc001wxc.3_Splice_Site_p.A497_splice|NEMF_uc010tqi.2_Splice_Site_p.A497_splice|NEMF_uc001wxe.2_Splice_Site_p.A455_splice|NEMF_uc001wxd.1_Splice_Site|NEMF_uc010anq.1_Splice_Site_p.A268_splice	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	497						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TGACTTGAATGCCTATTTATA	0.269000														5			15		0	0	0.028581	0	0
MUC21	394263	broad.mit.edu	37	6	30954708	30954708	+	Silent	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr6:30954708C>T	uc003nsh.2	+	1	1007	c.756C>T	c.(754-756)gcC>gcT	p.A252A	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Silent_p.A236A	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	252	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.G251E(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAGTGGGGCCGGCACAGCCA	0.637000														294			10		0	0	0.058154	0	0
RANBP17	64901	broad.mit.edu	37	5	170323085	170323085	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr5:170323085T>A	uc003mba.3	+	4	597	c.455T>A	c.(454-456)aTa>aAa	p.I152K	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Intron|RANBP17_uc003maw.3_Missense_Mutation_p.I152K|RANBP17_uc011dew.2_Missense_Mutation_p.I152K	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	152					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATAGGAGTAATAATCCTTTCT	0.388000			T	TRD@	ALL									52			40		0	0	0.027894	0	0
MYO5A	4644	broad.mit.edu	37	15	52606371	52606371	+	Silent	SNP	T	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr15:52606371T>C	uc002aby.2	-	39	5608	c.5364A>G	c.(5362-5364)ccA>ccG	p.P1788P	MYO5A_uc002abx.3_Silent_p.P1761P|MYO5A_uc010ugd.1_Silent_p.P510P	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1788	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACTCATTAACTGGAGTATACA	0.348000														45			26		0	0	0.024334	0	0
LOC285359	285359	broad.mit.edu	37	3	101432120	101432120	+	RNA	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr3:101432120C>G	uc003dvj.3	+	0		c.843C>G								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		ATGAATCCTTCTGGTTTTTAG	0.299000														9			3		0	0	0.004672	0	0
CPXM1	56265	broad.mit.edu	37	20	2776796	2776796	+	Silent	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr20:2776796C>G	uc002wgu.3	-	9	1328	c.1254G>C	c.(1252-1254)ctG>ctC	p.L418L	CPXM1_uc010gas.3_Silent_p.L418L	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	418					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCCAGCCCACCAGCTCTGAAC	0.602000														49			29		0	0	0.027356	0	0
HECW2	57520	broad.mit.edu	37	2	197187250	197187250	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr2:197187250C>T	uc002utm.1	-	6	1019	c.836G>A	c.(835-837)gGg>gAg	p.G279E	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	279	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGTTAGTTTCCCCAGAAAACG	0.413000														96			67		0	0	0.048971	0	0
SLC25A48	153328	broad.mit.edu	37	5	135178132	135178132	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr5:135178132C>A	uc003laz.1	+	1	246	c.74C>A	c.(73-75)cCt>cAt	p.P25H	SLC25A48_uc003lba.3_Missense_Mutation_p.P25H			Q6ZT89	S2548_HUMAN	Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA.	25					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GTTGGCCACCCTCTGGACACA	0.507000														106			58		8.27209e-15	9.07913e-15	0.048971	1	0
SLC40A1	30061	broad.mit.edu	37	2	190428363	190428363	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr2:190428363A>T	uc002uqp.4	-	6	1700	c.1349T>A	c.(1348-1350)gTg>gAg	p.V450E		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	450					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GATTATGGGCACAGATTCAGG	0.368000														48			37		0	0	0.069456	0	0
ESPL1	9700	broad.mit.edu	37	12	53680427	53680427	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr12:53680427C>A	uc001sck.2	+	17	3998	c.3907C>A	c.(3907-3909)Cct>Act	p.P1303T	ESPL1_uc001scj.2_Missense_Mutation_p.P978T|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1303					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AAAAAGTGTCCCTGGCTCAGA	0.527000														33			33		9.65963e-10	1.02681e-09	0.059317	1	0
RAD23B	5887	broad.mit.edu	37	9	110091836	110091836	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr9:110091836G>A	uc004bde.3	+	9	1523	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	RAD23B_uc022blj.1_Missense_Mutation_p.G305R|RAD23B_uc011lwb.2_Missense_Mutation_p.G356R	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	377	UBA 2.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAAGGCATTAGGATTTCCTGA	0.328000								Direct reversal of damage;Nucleotide excision repair (NER)						58			28		0	0	0.037714	0	0
GALNT2	2590	broad.mit.edu	37	1	230385000	230385000	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr1:230385000C>A	uc010pwa.1	+	8	960	c.888C>A	c.(886-888)aaC>aaA	p.N296K	GALNT2_uc010pvy.1_Missense_Mutation_p.N258K|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	296					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGCAGGGGAACCCAGTCGCCC	0.567000														11			17		1.15088e-07	1.188e-07	0.028581	1	0
PSTK	118672	broad.mit.edu	37	10	124740205	124740205	+	Silent	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr10:124740205A>G	uc001lgy.1	+	0	650	c.210A>G	c.(208-210)cgA>cgG	p.R70R		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	Homo sapiens phosphoseryl-tRNA kinase (PSTK), mRNA.	70							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		CAAGAGCGCGACCGGCGGTCA	0.756000											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		5			4		0	0	0.009096	0	0
RRP15	51018	broad.mit.edu	37	1	218480910	218480910	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr1:218480910T>G	uc001hlj.3	+	3	671	c.641T>G	c.(640-642)tTg>tGg	p.L214W		NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN	Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA.	214						mitochondrion|nucleolus	protein binding	p.L214F(2)	ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		ATCAGTGTTTTGAGAGGGATG	0.373000														4			21		0	0	0.062417	0	0
SLC6A12	6539	broad.mit.edu	37	12	308019	308019	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr12:308019A>T	uc001qhz.3	-	8	1454	c.790T>A	c.(790-792)Tac>Aac	p.Y264N	SLC6A12_uc001qhy.3_5'UTR|SLC6A12_uc001qia.3_Missense_Mutation_p.Y264N|SLC6A12_uc001qib.3_Missense_Mutation_p.Y264N|SLC6A12_uc009zdh.2_Missense_Mutation_p.Y264N	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	264					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A263S(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATGCCCTGGTAGGCTCCGGGA	0.562000														56			63		0	0	0.048971	0	0
CHRNA1	1134	broad.mit.edu	37	2	175624262	175624262	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr2:175624262A>T	uc002ujd.2	-	1	221	c.143T>A	c.(142-144)gTc>gAc	p.V48D	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.V48D|CHRNA1_uc002ujf.4_Missense_Mutation_p.V48D	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	48					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GACCTCCACGACCTGGCGGTG	0.617000														150			77		0	0	0.048971	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1324927	1324927	+	Splice_Site	SNP	A	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr5:1324927A>T	uc003jch.3	-	11	1193	c.1147_splice	c.e11-1	p.F383_splice	CLPTM1L_uc003jcg.3_Splice_Site_p.F214_splice	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	383					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GTAAGTGCCAAACTGTTGTGA	0.488000														44			37		0	0	0.074837	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773825	25773825	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr6:25773825G>A	uc003nfe.3	+	7	1029	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	SLC17A4_uc011djx.2_Intron|SLC17A4_uc003nff.1_Missense_Mutation_p.E65K|SLC17A4_uc003nfg.3_Missense_Mutation_p.E241K|SLC17A4_uc010jqa.3_Missense_Mutation_p.E17K	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	304					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTATTTCTGTGAATACTGGCT	0.443000														55			34		0	0	0.054565	0	0
SEC13	6396	broad.mit.edu	37	3	10342967	10342967	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr3:10342967T>C	uc003bvn.3	-	8	1069	c.947A>G	c.(946-948)gAg>gGg	p.E316G	SEC13_uc003bvl.3_Missense_Mutation_p.E248G|SEC13_uc003bvm.3_Missense_Mutation_p.E302G|SEC13_uc003bvp.3_Missense_Mutation_p.E319G|SEC13_uc003bvo.3_Missense_Mutation_p.E362G	NM_183352	NP_001129704	P55735	SEC13_HUMAN	Homo sapiens SEC13 homolog (S. cerevisiae) (SEC13), transcript variant 1, mRNA.	316					COPII vesicle coating|intracellular protein transport|mRNA transport|mitotic prometaphase|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	ER to Golgi transport vesicle membrane|Nup107-160 complex|cytosol|endoplasmic reticulum membrane	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CTGCTGGCCCTCTGTCACTGA	0.612000														50			33		0	0	0.054565	0	0
ABHD10	55347	broad.mit.edu	37	3	111700691	111700691	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr3:111700691A>G	uc003dyk.4	+	1	284	c.203A>G	c.(202-204)tAt>tGt	p.Y68C	ABHD10_uc011bhq.2_Intron	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	Homo sapiens abhydrolase domain containing 10 (ABHD10), mRNA.	68						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						AACCTGGCTTATAAGAAGCTA	0.378000														68			53		0	0	0.048971	0	0
SLC35F2	54733	broad.mit.edu	37	11	107677532	107677532	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr11:107677532A>C	uc001pjq.3	-	3	906	c.485T>G	c.(484-486)gTg>gGg	p.V162G	SLC35F2_uc010rvu.2_Missense_Mutation_p.V14G|SLC35F2_uc001pjs.3_Missense_Mutation_p.V162G	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA.	162					transport	integral to membrane		p.R161K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GAAGTGGATCACTCTGTATCT	0.463000														43			23		0	0	0.021523	0	0
MICAL3	57553	broad.mit.edu	37	22	18293513	18293513	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr22:18293513T>C	uc002zng.4	-	27	5865	c.5512A>G	c.(5512-5514)Aga>Gga	p.R1838G	MICAL3_uc011agl.2_Missense_Mutation_p.R1754G|MICAL3_uc010gre.2_Non-coding_Transcript	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1838						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTGGCCTGTCTCCGAGCTGCC	0.572000														40			22		0	0	0.076483	0	0
GEM	2669	broad.mit.edu	37	8	95262646	95262646	+	Silent	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr8:95262646G>A	uc003ygi.3	-	4	907	c.783C>T	c.(781-783)agC>agT	p.S261S	GEM_uc003ygj.3_Silent_p.S261S	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	261					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding	p.E260E(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCTGGGCATGCTCTCCTTCC	0.552000														40			22		0	0	0.062417	0	0
INCENP	3619	broad.mit.edu	37	11	61912744	61912744	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr11:61912744G>A	uc001nsw.1	+	12	2021	c.1819G>A	c.(1819-1821)Gac>Aac	p.D607N	INCENP_uc009ynw.1_Missense_Mutation_p.D607N|INCENP_uc001nsx.1_Missense_Mutation_p.D603N	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	607					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTCAGATCGACGAGAAGAC	0.582000														51			44		0	0	0.036044	0	0
SEMA6A	57556	broad.mit.edu	37	5	115822558	115822558	+	Silent	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr5:115822558G>A	uc003krx.4	-	9	1558	c.849C>T	c.(847-849)tgC>tgT	p.C283C	SEMA6A_uc010jck.3_Silent_p.C283C	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	283	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAGGAACTGAGCAGTTCAAGC	0.463000														70			50		0	0	0.048971	0	0
RYR1	6261	broad.mit.edu	37	19	39058443	39058443	+	Silent	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr19:39058443C>T	uc002oit.3	+	92	13675	c.13545C>T	c.(13543-13545)ccC>ccT	p.P4515P	RYR1_uc002oiu.3_Silent_p.P4510P	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4515	Pro-rich.				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)	AAGAAGTTCCCGAGCCCACAC	0.577000														51			20		0	0	0.062417	0	0
HUNK	30811	broad.mit.edu	37	21	33371363	33371363	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr21:33371363A>C	uc002yph.3	+	10	2371	c.2011A>C	c.(2011-2013)Atg>Ctg	p.M671L		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	671					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CATCGGACAGATGTTAAGGAA	0.617000														67			36		0	0	0.054565	0	0
KDELR3	11015	broad.mit.edu	37	22	38875733	38875733	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr22:38875733A>G	uc003avu.3	+	2	484	c.328A>G	c.(328-330)Aac>Gac	p.N110D	KDELR3_uc003avv.3_Missense_Mutation_p.N110D	NM_016657	NP_057839	O43731	ERD23_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 2, mRNA.	110					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CTTCCTTGAAAACTACAGTTT	0.473000														182			146		0	0	0.048971	0	0
SAT2	112483	broad.mit.edu	37	17	7530935	7530935	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr17:7530935G>A	uc002gic.2	-	0	260	c.19C>T	c.(19-21)Cga>Tga	p.R7*	SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SAT2_uc002gib.1_Non-coding_Transcript|SHBG_uc010cmz.2_5'Flank|SHBG_uc010cmv.2_5'Flank|SHBG_uc010cmw.2_5'Flank|SHBG_uc010cmx.2_5'Flank|SHBG_uc010cmy.2_5'Flank|SHBG_uc002gid.3_5'Flank|SHBG_uc002gie.2_5'Flank|SHBG_uc010cnd.2_5'Flank|SHBG_uc010cna.2_5'Flank|SHBG_uc010vue.1_5'Flank|SHBG_uc010vuf.1_5'Flank|SHBG_uc010cnb.2_5'Flank|SHBG_uc010cnc.2_5'Flank	NM_133491	NP_597998	Q96F10	SAT2_HUMAN	Homo sapiens spermidine/spermine N1-acetyltransferase family member 2 (SAT2), mRNA.	7	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	TTGGCCTCTCGGATCCGCACG	0.632000														33			15		0	0	0.033300	0	0
DIP2B	57609	broad.mit.edu	37	12	51092173	51092173	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr12:51092173A>G	uc001rwv.3	+	17	2267	c.2111A>G	c.(2110-2112)tAt>tGt	p.Y704C	DIP2B_uc009zlt.3_Missense_Mutation_p.Y134C	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	704						nucleus	catalytic activity|transcription factor binding	p.S703R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGATTGAGCTATGGGGTAATA	0.463000														62			36		0	0	0.064281	0	0
IPO13	9670	broad.mit.edu	37	1	44423086	44423086	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr1:44423086C>A	uc001ckx.3	+	6	2200	c.1405C>A	c.(1405-1407)Ctc>Atc	p.L469I		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	469					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CACAGAGGCCCTCCTCTACGG	0.572000														14			48		5.73435e-26	6.32756e-26	0.048971	1	0
GPR162	27239	broad.mit.edu	37	12	6933600	6933600	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr12:6933600T>C	uc001qqw.1	+	1	1071	c.536T>C	c.(535-537)tTt>tCt	p.F179S	GPR162_uc010sfn.1_Missense_Mutation_p.F179S|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	179						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GGCCTCGGCTTTGGCGTTTGC	0.597000														53			33		0	0	0.064281	0	0
CUL4A	8451	broad.mit.edu	37	13	113915023	113915023	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr13:113915023C>G	uc021rmv.1	+	18	2145	c.2134C>G	c.(2134-2136)Cat>Gat	p.H712D	CUL4A_uc021rmu.1_Missense_Mutation_p.H612D|CUL4A_uc010agu.3_Missense_Mutation_p.H573D|CUL4A_uc010tjz.2_Missense_Mutation_p.H391D	NM_001008895	NP_003580	Q13619	CUL4A_HUMAN	Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.	712					DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GACTCTTGGTCATAATCTTCT	0.328000														16			13		0	0	0.013537	0	0
PSME4	23198	broad.mit.edu	37	2	54176408	54176408	+	Silent	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr2:54176408A>G	uc002rxp.2	-	1	311	c.255T>C	c.(253-255)ctT>ctC	p.L85L	PSME4_uc010yop.1_5'UTR|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_5'UTR|PSME4_uc021vho.1_Silent_p.L85L	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	85					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCTCCCATAAAGTCGAatat	0.333000														23			9		0	0	0.047766	0	0
SLC43A1	8501	broad.mit.edu	37	11	57256737	57256737	+	Missense_Mutation	SNP	T	C	C	rs116416099	by1000genomes	TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr11:57256737T>C	uc001nkk.3	-	11	1440	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S	SLC43A1_uc001nkl.3_Missense_Mutation_p.N441S	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	441					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GAGGTGTAAGTTGTTGATGAG	0.567000														52			34		0	0	0.050027	0	0
KIAA1549	57670	broad.mit.edu	37	7	138597164	138597164	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr7:138597164A>C	uc011kql.2	-	2	2970	c.2921T>G	c.(2920-2922)aTc>aGc	p.I974S	KIAA1549_uc011kqj.2_Missense_Mutation_p.I974S	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	974						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TACTTCTTTGATTGCTGTAAT	0.463000			O	BRAF	pilocytic astrocytoma									22			35		0	0	0.050027	0	0
EED	8726	broad.mit.edu	37	11	85956385	85956385	+	Splice_Site	SNP	T	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr11:85956385T>A	uc001pbp.3	+	1	580	c.114_splice	c.e1+1	p.N38_splice	EED_uc010rtm.2_Splice_Site_p.N38_splice|EED_uc001pbq.3_Splice_Site_p.N38_splice|EED_uc001pbr.3_Splice_Site_p.N38_splice	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	38					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GAGACGAGAATGTAAGTGCAG	0.572000														18			17		0	0	0.028581	0	0
RABGAP1	23637	broad.mit.edu	37	9	125751642	125751642	+	Silent	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr9:125751642C>T	uc011lzh.2	+	4	791	c.657C>T	c.(655-657)gtC>gtT	p.V219V	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Silent_p.V219V	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	219	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TCTTCTGTGTCAGAGGGCATG	0.413000														43			41		0	0	0.027894	0	0
ANXA11	311	broad.mit.edu	37	10	81927005	81927005	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr10:81927005A>C	uc010qlx.1	-	2	976	c.926T>G	c.(925-927)cTg>cGg	p.L309R	ANXA11_uc001kbq.1_Missense_Mutation_p.L209R|ANXA11_uc001kbr.1_Missense_Mutation_p.L209R|ANXA11_uc001kbs.1_Missense_Mutation_p.L209R|ANXA11_uc001kbt.1_Missense_Mutation_p.L209R|ANXA11_uc010qly.1_Missense_Mutation_p.L176R|ANXA11_uc001kbu.1_Missense_Mutation_p.L209R	NM_145869	NP_665876	P50995	ANX11_HUMAN	Homo sapiens annexin A11 (ANXA11), transcript variant c, mRNA.	209					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	S100 alpha binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGCCTTCCGCAGGACCTCGGC	0.577000														25			25		0	0	0.030593	0	0
MLLT10	8028	broad.mit.edu	37	10	22022934	22022934	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr10:22022934A>T	uc021pny.1	+	18	2734	c.2734A>T	c.(2734-2736)Att>Ttt	p.I912F	MLLT10_uc001iqs.3_Missense_Mutation_p.I928F|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Missense_Mutation_p.I912F|MLLT10_uc001ira.3_Missense_Mutation_p.I369F|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	928					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AATTAATGGCATTGTAGGAGC	0.498000			T	"""MLL, PICALM, CDK6"""	AL									40			33		0	0	0.041601	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149576654	149576654	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr7:149576654C>G	uc003wgr.3	+	3	1550	c.599C>G	c.(598-600)cCg>cGg	p.P200R	ATP6V0E2_uc003wgp.3_3'UTR|ATP6V0E2_uc003wgs.3_Missense_Mutation_p.P177R|ATP6V0E2_uc003wgq.3_Non-coding_Transcript|DQ590227_uc003wgt.1_5'Flank	NM_145230	NP_660265	Q8NHE4	VA0E2_HUMAN	Homo sapiens ATPase, H+ transporting V0 subunit e2 (ATP6V0E2), transcript variant 1, mRNA.	0					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			CTCCAATACCCGCACTGCTCT	0.637000														7			17		0	0	0.038395	0	0
OR13J1	392309	broad.mit.edu	37	9	35869823	35869823	+	Silent	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr9:35869823C>T	uc011lph.2	-	0	576	c.576G>A	c.(574-576)acG>acA	p.T192T		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily J, member 1 (OR13J1), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CGCTGACCGACGTGTTGCCGC	0.597000														34			16		0	0	0.024245	0	0
DDX12P	440081	broad.mit.edu	37	12	9573224	9573224	+	RNA	SNP	C	T	T	rs7358609	by1000genomes	TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr12:9573224C>T	uc021qut.1	-	10		c.2174G>A			DDX12P_uc001qvx.4_Non-coding_Transcript|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		GAAACCACACCGCACAGGTTA	0.617000														66			4		0	0	0.014758	0	0
MCM3	4172	broad.mit.edu	37	6	52141973	52141973	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr6:52141973G>C	uc003pan.1	-	7	1167	c.1057C>G	c.(1057-1059)Cag>Gag	p.Q353E	MCM3_uc011dwu.1_Missense_Mutation_p.Q307E	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	353	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.Q353K(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CGCAGAAGCTGAGACTTGGCA	0.597000														25			12		0	0	0.010729	0	0
LYN	4067	broad.mit.edu	37	8	56922610	56922610	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr8:56922610C>A	uc003xsk.4	+	12	1762	c.1480C>A	c.(1480-1482)Cag>Aag	p.Q494K	LYN_uc003xsl.4_Missense_Mutation_p.Q473K	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	494	Protein kinase.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TGACTACTTACAGAGCGTCCT	0.527000														60			34		8.4185e-14	8.97974e-14	0.050027	1	0
C12orf5	57103	broad.mit.edu	37	12	4461705	4461705	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr12:4461705C>G	uc001qmp.3	+	5	740	c.661C>G	c.(661-663)Ctg>Gtg	p.L221V		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	Homo sapiens chromosome 12 open reading frame 5 (C12orf5), mRNA.	221						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			ACCAGCCACTCTGAGCAGATC	0.423000														55			46		0	0	0.045515	0	0
SRRM2	23524	broad.mit.edu	37	16	2812806	2812806	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr16:2812806C>G	uc002crk.3	+	10	2826	c.2277C>G	c.(2275-2277)agC>agG	p.S759R	SRRM2_uc002crj.1_Missense_Mutation_p.S663R|SRRM2_uc002crl.1_Missense_Mutation_p.S759R|SRRM2_uc010bsu.1_Missense_Mutation_p.S663R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	759	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGGCGGAGCAGGTCTCTCT	0.473000														109			156		0	0	0.048971	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118544	118544	+	RNA	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chrGL000205.1:118544A>G	uc002kgk.4	+	0		c.1922A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGATAATCTAAGAGAAAAAGA	0.408000														61			9		0	0	0.058154	0	0
CACNA1A	773	broad.mit.edu	37	19	13346025	13346025	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr19:13346025G>A	uc002mwy.3	-	32	5367	c.5131C>T	c.(5131-5133)Cag>Tag	p.Q1711*	CACNA1A_uc002mwx.3_Nonsense_Mutation_p.Q417*|CACNA1A_uc010dzc.2_Nonsense_Mutation_p.Q1237*|CACNA1A_uc010xnd.2_Nonsense_Mutation_p.Q1714*|CACNA1A_uc021ups.1_Nonsense_Mutation_p.Q1711*|CACNA1A_uc010xne.2_Nonsense_Mutation_p.Q1714*|CACNA1A_uc010dze.2_Nonsense_Mutation_p.Q1711*|CACNA1A_uc021upt.1_Nonsense_Mutation_p.Q1712*|CACNA1A_uc002mwv.3_Nonsense_Mutation_p.Q228*	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1712					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACACTCACCTGCATCCCAATG	0.557000											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			5		0	0	0.014758	0	0
ZC3H18	124245	broad.mit.edu	37	16	88653085	88653085	+	Silent	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr16:88653085C>T	uc010voz.2	+	2	881	c.681C>T	c.(679-681)ttC>ttT	p.F227F	ZC3H18_uc021tmm.1_Silent_p.F227F|ZC3H18_uc010voy.1_Silent_p.F110F|ZC3H18_uc002fky.3_Silent_p.F227F|ZC3H18_uc010vpa.1_Silent_p.F227F	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	227						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCGGTTCTTCATGAAAGGTA	0.587000														48			17		0	0	0.033300	0	0
GRINA	2907	broad.mit.edu	37	8	145066937	145066937	+	Silent	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr8:145066937G>A	uc003zan.1	+	6	1210	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	GRINA_uc003zao.1_Silent_p.A348A|GRINA_uc003zap.1_Silent_p.A348A	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	348						integral to membrane		p.A348T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTTGCTGCGCTGAACCTGT	0.572000														37			3		0	0	0.004672	0	0
SECISBP2	79048	broad.mit.edu	37	9	91965762	91965762	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr9:91965762C>T	uc004aqj.1	+	13	2188	c.2108C>T	c.(2107-2109)tCa>tTa	p.S703L	SECISBP2_uc010mqo.1_Missense_Mutation_p.S408L|SECISBP2_uc004aqk.1_Missense_Mutation_p.S630L|SECISBP2_uc011ltk.1_Missense_Mutation_p.S702L|SECISBP2_uc011ltl.1_Missense_Mutation_p.S635L	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	703					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AAGATACAGTCAAAAGGTAAA	0.498000														32			30		0	0	0.034045	0	0
XYLB	9942	broad.mit.edu	37	3	38404484	38404484	+	Silent	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr3:38404484C>G	uc003cic.2	+	3	376	c.267C>G	c.(265-267)gtC>gtG	p.V89V	XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_Silent_p.V11V	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	89					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TCTCTCAAGTCCTAGCCTTGT	0.532000														55			39		0	0	0.033182	0	0
NLRP9	338321	broad.mit.edu	37	19	56244868	56244868	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr19:56244868A>T	uc002qly.3	-	1	357	c.329T>A	c.(328-330)aTa>aAa	p.I110K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	110						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTTCTCCCATATGAGTTGAAA	0.363000														58			44		0	0	0.048971	0	0
OR2T3	343173	broad.mit.edu	37	1	248637256	248637256	+	Missense_Mutation	SNP	C	T	T	rs79885009	byFrequency	TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr1:248637256C>T	uc001iel.1	+	0	605	c.605C>T	c.(604-606)aCg>aTg	p.T202M		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T202T(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTATAAGACGCTCATGTAC	0.507000														26			5		0	0	0.021553	0	0
LINGO3	645191	broad.mit.edu	37	19	2290213	2290213	+	Silent	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr19:2290213C>T	uc010dsx.1	-	1	1691	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	SPPL2B_uc010dsw.1_Intron|LINGO3_uc021ums.1_Silent_p.P521P|AX747191_uc002lvo.1_5'UTR	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 3 (LINGO3), mRNA.	521						integral to membrane				lung(1)|urinary_tract(1)	2						TGAGGTCGAGCGGCGCGCGCA	0.706000														30			18		0	0	0.062417	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	T	T	rs76270529	by1000genomes	TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr17:39254054A>T	uc010wfo.2	-	0	322	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(8)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000														55			8		0	0	0.069234	0	0
ZNF461	92283	broad.mit.edu	37	19	37147417	37147417	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr19:37147417G>C	uc002oem.3	-	3	393	c.165C>G	c.(163-165)atC>atG	p.I55M	ZNF461_uc002oen.3_Missense_Mutation_p.I24M|ZNF461_uc010xtj.2_Missense_Mutation_p.I55M	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	Homo sapiens zinc finger protein 461 (ZNF461), mRNA.	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V54A(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCAATGAGGAGATTACGGCTG	0.443000														36			30		0	0	0.037714	0	0
ERCC2	2068	broad.mit.edu	37	19	45868315	45868315	+	Silent	SNP	G	A	A	rs139263710		TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr19:45868315G>A	uc002pbj.2	-	5	509	c.462C>T	c.(460-462)caC>caT	p.H154H	ERCC2_uc010ejz.2_Intron|ERCC2_uc002pbk.2_Silent_p.H130H|ERCC2_uc002pbl.4_Silent_p.H130H|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	154	Helicase ATP-binding.				UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AGAATCGGCAGTGGGGCAGGC	0.637000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					24			20		0	0	0.062417	0	0
NBPF10	100132406	broad.mit.edu	37	1	144815968	144815968	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr1:144815968G>A	uc009wig.1	+	10	1527	c.1333G>A	c.(1333-1335)Gtt>Att	p.V445I	NBPF10_uc010oxo.1_Missense_Mutation_p.V447I|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.V176I|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.V107I	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	447								p.V189I(1)		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)		AGATGTTCAAGTTGAGGTGGC	0.423000														21			23		0	0	0.045705	0	0
ABCB6	10058	broad.mit.edu	37	2	220075814	220075814	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr2:220075814A>G	uc002vkc.2	-	14	3764	c.1985T>C	c.(1984-1986)cTc>cCc	p.L662P	ABCB6_uc010fwe.2_Missense_Mutation_p.L616P	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	662	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGAGACCGGAGAGAGGCCTG	0.582000														69			43		0	0	0.048971	0	0
MLH1	4292	broad.mit.edu	37	3	37042512	37042512	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr3:37042512G>A	uc003cgl.3	+	2	472	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	MLH1_uc011aye.2_5'UTR|MLH1_uc011ayb.2_5'UTR|MLH1_uc010hge.3_Missense_Mutation_p.A92T|MLH1_uc011ayc.2_5'UTR|MLH1_uc011ayd.2_5'UTR|MLH1_uc003cgo.3_5'UTR|MLH1_uc003cgn.4_5'UTR	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	92					mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGAGGATTTAGCCAGTATTTC	0.348000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					32			34		0	0	0.023175	0	0
MZF1	7593	broad.mit.edu	37	19	59073766	59073766	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr19:59073766G>T	uc002qto.3	-	5	2439	c.1878C>A	c.(1876-1878)caC>caA	p.H626Q	LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Missense_Mutation_p.H626Q	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	626					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		ACTCACCGCAGTGGTAGGGCT	0.682000														5			10		0.000673444	0.000684134	0.069234	1	0
RGS7	6000	broad.mit.edu	37	1	241094065	241094065	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr1:241094065G>C	uc001hyv.2	-	5	667	c.337C>G	c.(337-339)Ccc>Gcc	p.P113A	RGS7_uc010pyh.2_Missense_Mutation_p.P87A|RGS7_uc010pyj.1_Missense_Mutation_p.P29A|RGS7_uc001hyu.2_Missense_Mutation_p.P113A|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.P113A	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	113					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CAAAAATAGGGGGTCTGCGGA	0.383000														12			62		0	0	0.048971	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000														1			3		0	0	0.004672	0	0
EEFSEC	60678	broad.mit.edu	37	3	127981023	127981023	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr3:127981023G>C	uc003eki.3	+	2	615	c.577G>C	c.(577-579)Gcc>Ccc	p.A193P		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	193						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GGGACCAGAGGCCCCCGAAAC	0.562000														82			68		0	0	0.048971	0	0
NCOR2	9612	broad.mit.edu	37	12	124887099	124887099	+	Silent	SNP	T	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr12:124887099T>C	uc021rga.1	-	13	1608	c.1491A>G	c.(1489-1491)caA>caG	p.Q497Q	NCOR2_uc021rgb.1_Silent_p.Q497Q|NCOR2_uc010tbb.2_Silent_p.Q497Q|NCOR2_uc010tbc.2_Silent_p.Q496Q|NCOR2_uc021rgc.1_Silent_p.Q496Q|NCOR2_uc010tba.2_Silent_p.Q497Q|NCOR2_uc001ugj.1_Silent_p.Q497Q	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	497	Poly-Gln.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity	p.Q510_P511insQQ(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgttgttgctgctgct	0.622000														3			3		0	0	0.004672	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75785104	75785104	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr12:75785104C>A	uc001sxr.1	+	0	216	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	CAPS2_uc001sxm.3_5'Flank|CAPS2_uc009zsa.2_5'Flank|GLIPR1L2_uc001sxp.1_Missense_Mutation_p.P70T|GLIPR1L2_uc001sxq.1_5'UTR	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 2 (GLIPR1L2), mRNA.	70						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						CGACGTCATTCCCCGAGGGTC	0.567000											OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			37		8.73648e-17	9.47686e-17	0.069456	1	0
LAMP1	3916	broad.mit.edu	37	13	113963979	113963979	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr13:113963979T>C	uc001vtm.1	+	2	486	c.205T>C	c.(205-207)Tca>Cca	p.S69P	LAMP1_uc010tka.1_Missense_Mutation_p.S69P	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	69	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGACCTGCCATCAGATGCCAC	0.423000														65			40		0	0	0.025465	0	0
SLC25A48	153328	broad.mit.edu	37	5	135207543	135207543	+	Missense_Mutation	SNP	G	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr5:135207543G>T	uc003laz.1	+	4	987	c.815G>T	c.(814-816)gGt>gTt	p.G272V	SLC25A48_uc003lba.3_Intron			Q6ZT89	S2548_HUMAN	Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA.	0					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TCTTTGTTAGGTACCTACTCT	0.542000														29			27		2.12542e-12	2.22994e-12	0.030593	1	0
ZNF557	79230	broad.mit.edu	37	19	7075688	7075688	+	Silent	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr19:7075688C>G	uc002mga.3	+	3	539	c.54C>G	c.(52-54)gcC>gcG	p.A18A	ZNF557_uc002mgb.3_Splice_Site_p.A11_splice|ZNF557_uc002mgc.3_Silent_p.A18A	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		TGTTCCCAGCCTCTCAGCGAG	0.532000														52			41		0	0	0.048971	0	0
ITPR2	3709	broad.mit.edu	37	12	26809443	26809443	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr12:26809443C>G	uc001rhg.3	-	18	2648	c.2231G>C	c.(2230-2232)cGc>cCc	p.R744P		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	744					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGATACTGGCGATCCAAGCA	0.453000														53			25		0	0	0.021523	0	0
ZNF48	197407	broad.mit.edu	37	16	30408740	30408740	+	Missense_Mutation	SNP	G	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr16:30408740G>C	uc002dya.2	+	1	545	c.169G>C	c.(169-171)Gct>Cct	p.A57P	ZNF48_uc021tgi.1_Missense_Mutation_p.A57P|ZNF48_uc021tgj.1_5'UTR|ZNF48_uc021tgk.1_Missense_Mutation_p.A57P	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGAAGATTTGGCTCCAGATCA	0.488000														138			41		0	0	0.030466	0	0
TOP3A	7156	broad.mit.edu	37	17	18181411	18181411	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr17:18181411G>A	uc002gsx.1	-	17	2634	c.2405C>T	c.(2404-2406)cCc>cTc	p.P802L	TOP3A_uc010cpz.1_Missense_Mutation_p.P254L|TOP3A_uc010vxr.1_Missense_Mutation_p.P332L|TOP3A_uc002gsw.1_Missense_Mutation_p.P254L|TOP3A_uc010vxs.1_Missense_Mutation_p.P700L	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	802					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AGCAGCCGTGGGTGGTGGGAG	0.627000														65			41		0	0	0.025465	0	0
RGNEF	64283	broad.mit.edu	37	5	73205322	73205322	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr5:73205322T>A	uc010izf.3	+	33	4423	c.4247T>A	c.(4246-4248)aTc>aAc	p.I1416N	RGNEF_uc011csq.2_Missense_Mutation_p.I1416N|RGNEF_uc021yam.1_Missense_Mutation_p.I1416N|RGNEF_uc011csr.2_Missense_Mutation_p.I1103N|RGNEF_uc003kcz.4_Missense_Mutation_p.I380N|RGNEF_uc003kda.4_Missense_Mutation_p.I336N	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	1416					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GGCCACTCTATCCTCCGAGGC	0.622000														10			9		0	0	0.058154	0	0
KDM5A	5927	broad.mit.edu	37	12	401948	401948	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr12:401948A>G	uc001qif.1	-	26	5206	c.4843T>C	c.(4843-4845)Tgc>Cgc	p.C1615R	KDM5A_uc021qsr.1_Missense_Mutation_p.C166R	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1615					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GGCCTTTGGCAGTTCTGTGCT	0.468000			T	NUP98	AML									90			43		0	0	0.042209	0	0
MRO	83876	broad.mit.edu	37	18	48331527	48331527	+	Silent	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr18:48331527A>G	uc010dpa.3	-	3	617	c.468T>C	c.(466-468)gaT>gaC	p.D156D	MRO_uc010xdn.2_Silent_p.D142D|MRO_uc002lew.4_Silent_p.D142D|MRO_uc010dpb.3_Silent_p.D156D|MRO_uc010dpc.3_Silent_p.D142D|MRO_uc002lex.4_Silent_p.D142D	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	142						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		TACTTACGTCATCTAATAAAG	0.448000														48			9		0	0	0.034045	0	0
PRKCB	5579	broad.mit.edu	37	16	23848699	23848699	+	Silent	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr16:23848699C>T	uc002dmd.3	+	1	374	c.177C>T	c.(175-177)ggC>ggT	p.G59G	PRKCB_uc002dme.3_Silent_p.G59G	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	59					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTTGCAGGGGCTTCGGGAAGC	0.552000														118			176		0	0	0.048971	0	0
POLR2F	5435	broad.mit.edu	37	22	38355418	38355418	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr22:38355418C>G	uc003aul.3	+	2	277	c.156C>G	c.(154-156)atC>atG	p.I52M	POLR2F_uc010gxi.3_Missense_Mutation_p.H46D|AK098727_uc003aum.3_Non-coding_Transcript	NM_021974	NP_068809	P61218	RPAB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide F (POLR2F), mRNA.	52					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					AGAAGCGAATCACCACACCAT	0.577000														123			92		0	0	0.048971	0	0
MYADML	151325	broad.mit.edu	37	2	33952621	33952621	+	Silent	SNP	G	A	A	rs11684598	by1000genomes	TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr2:33952621G>A	uc002rpb.3	-	0	664	c.222C>T	c.(220-222)taC>taT	p.Y74Y						Homo sapiens myeloid-associated differentiation marker-like (MYADML), non-coding RNA.																		CTTCGGTGGCGTAAGCCACAC	0.647000														26			3		0	0	0.004672	0	0
MTMR3	8897	broad.mit.edu	37	22	30413918	30413918	+	Silent	SNP	G	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr22:30413918G>T	uc003agv.4	+	15	2005	c.1677G>T	c.(1675-1677)gtG>gtT	p.V559V	MTMR3_uc003agu.4_Silent_p.V559V|MTMR3_uc003agw.4_Silent_p.V559V	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	559	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTCCTCAGGTGCTGTACCCTG	0.552000														99			50		2.55665e-31	2.84566e-31	0.048971	1	0
ZNF816	125893	broad.mit.edu	37	19	53432286	53432286	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr19:53432286A>G	uc010eqj.3	-	3	782	c.572T>C	c.(571-573)tTg>tCg	p.L191S	ZNF816_uc002qaj.1_Missense_Mutation_p.L121S|ZNF816_uc002qak.2_Missense_Mutation_p.L175S	NM_001202473	NP_001189402	Q0VGE8	ZN816_HUMAN	Homo sapiens ZNF816-ZNF321P readthrough (ZNF816-ZNF321P), mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TTGGGATGTCAAAATTAAGGA	0.373000														98			82		0	0	0.048971	0	0
ZMAT3	64393	broad.mit.edu	37	3	178785387	178785387	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr3:178785387C>A	uc003fjg.3	-	1	485	c.154G>T	c.(154-156)Gag>Tag	p.E52*	ZMAT3_uc003fji.3_Nonsense_Mutation_p.E52*	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	Homo sapiens zinc finger, matrin-type 3 (ZMAT3), transcript variant 1, mRNA.	52					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TTCGATAACTCTTCTTCCCCT	0.552000														72			41		2.26627e-22	2.47934e-22	0.030466	1	0
TPTE	7179	broad.mit.edu	37	21	11014987	11014987	+	RNA	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr21:11014987A>G	uc002yis.1	-	6		c.1459T>C						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATAGTTTCAATAGCAGACT	0.388000														31			3		0	0	0.004672	0	0
MUC21	394263	broad.mit.edu	37	6	30955264	30955264	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr6:30955264T>A	uc003nsh.2	+	1	1563	c.1312T>A	c.(1312-1314)Tct>Act	p.S438T	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S422T	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	438	Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGCCACCAACTCTGGGTCCAG	0.577000														96			71		0	0	0.048971	0	0
RDH5	5959	broad.mit.edu	37	12	56115258	56115258	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr12:56115258A>G	uc001shk.3	+	1	473	c.290A>G	c.(289-291)gAg>gGg	p.E97G	BLOC1S1_uc001shj.4_Intron|RDH5_uc021qyt.1_Intron|RDH5_uc010spt.1_Missense_Mutation_p.E97G|RDH5_uc010spu.1_5'UTR|RDH5_uc001shl.3_Missense_Mutation_p.E97G	NM_002905	NP_002896	Q92781	RDH1_HUMAN	Homo sapiens retinol dehydrogenase 5 (11-cis/9-cis) (RDH5), transcript variant 2, mRNA.	97					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	AAGTGGGTGGAGATGCACGTT	0.612000														53			34		0	0	0.069456	0	0
NEMF	9147	broad.mit.edu	37	14	50292672	50292672	+	Splice_Site	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr14:50292672G>A	uc010anj.1	-	16	1557	c.1489_splice	c.e16-1	p.A497_splice	NEMF_uc001wxc.3_Splice_Site_p.A497_splice|NEMF_uc010tqi.2_Splice_Site_p.A497_splice|NEMF_uc001wxe.2_Splice_Site_p.A455_splice|NEMF_uc001wxd.1_Splice_Site|NEMF_uc010anq.1_Splice_Site_p.A268_splice	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	497						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TGACTTGAATGCCTATTTATA	0.269000														5			15		0	0	0.028581	0	0
MUC21	394263	broad.mit.edu	37	6	30954708	30954708	+	Silent	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr6:30954708C>T	uc003nsh.2	+	1	1007	c.756C>T	c.(754-756)gcC>gcT	p.A252A	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Silent_p.A236A	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	252	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.G251E(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAGTGGGGCCGGCACAGCCA	0.637000														294			10		0	0	0.058154	0	0
RANBP17	64901	broad.mit.edu	37	5	170323085	170323085	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr5:170323085T>A	uc003mba.3	+	4	597	c.455T>A	c.(454-456)aTa>aAa	p.I152K	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Intron|RANBP17_uc003maw.3_Missense_Mutation_p.I152K|RANBP17_uc011dew.2_Missense_Mutation_p.I152K	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	152					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATAGGAGTAATAATCCTTTCT	0.388000			T	TRD@	ALL									52			40		0	0	0.027894	0	0
MYO5A	4644	broad.mit.edu	37	15	52606371	52606371	+	Silent	SNP	T	C	C			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr15:52606371T>C	uc002aby.2	-	39	5608	c.5364A>G	c.(5362-5364)ccA>ccG	p.P1788P	MYO5A_uc002abx.3_Silent_p.P1761P|MYO5A_uc010ugd.1_Silent_p.P510P	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1788	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACTCATTAACTGGAGTATACA	0.348000														45			26		0	0	0.024334	0	0
CPXM1	56265	broad.mit.edu	37	20	2776796	2776796	+	Silent	SNP	C	G	G			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr20:2776796C>G	uc002wgu.3	-	9	1328	c.1254G>C	c.(1252-1254)ctG>ctC	p.L418L	CPXM1_uc010gas.3_Silent_p.L418L	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	418					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCCAGCCCACCAGCTCTGAAC	0.602000														49			29		0	0	0.027356	0	0
HECW2	57520	broad.mit.edu	37	2	197187250	197187250	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr2:197187250C>T	uc002utm.1	-	6	1019	c.836G>A	c.(835-837)gGg>gAg	p.G279E	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	279	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGTTAGTTTCCCCAGAAAACG	0.413000														96			67		0	0	0.048971	0	0
SLC25A48	153328	broad.mit.edu	37	5	135178132	135178132	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr5:135178132C>A	uc003laz.1	+	1	246	c.74C>A	c.(73-75)cCt>cAt	p.P25H	SLC25A48_uc003lba.3_Missense_Mutation_p.P25H			Q6ZT89	S2548_HUMAN	Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA.	25					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GTTGGCCACCCTCTGGACACA	0.507000														106			58		8.27209e-15	8.89772e-15	0.048971	1	0
SLC40A1	30061	broad.mit.edu	37	2	190428363	190428363	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr2:190428363A>T	uc002uqp.4	-	6	1700	c.1349T>A	c.(1348-1350)gTg>gAg	p.V450E		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	450					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GATTATGGGCACAGATTCAGG	0.368000														48			37		0	0	0.069456	0	0
ZNF717	100131827	broad.mit.edu	37	3	75790798	75790798	+	Silent	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr3:75790798G>A	uc011bgi.2	-	2	470	c.147C>T	c.(145-147)gaC>gaT	p.D49D	ZNF717_uc003dpw.3_Non-coding_Transcript	NM_001128223	NP_001121695	C9JSV9	C9JSV9_HUMAN	Homo sapiens zinc finger protein 717 (ZNF717), mRNA.	49					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCAGCATCACGTCCCTGTACA	0.502000														9			4		0	0	0.038147	0	0
ESPL1	9700	broad.mit.edu	37	12	53680427	53680427	+	Missense_Mutation	SNP	C	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr12:53680427C>A	uc001sck.2	+	17	3998	c.3907C>A	c.(3907-3909)Cct>Act	p.P1303T	ESPL1_uc001scj.2_Missense_Mutation_p.P978T|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1303					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AAAAAGTGTCCCTGGCTCAGA	0.527000														33			33		9.65963e-10	1.00523e-09	0.059317	1	0
RAD23B	5887	broad.mit.edu	37	9	110091836	110091836	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr9:110091836G>A	uc004bde.3	+	9	1523	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	RAD23B_uc022blj.1_Missense_Mutation_p.G305R|RAD23B_uc011lwb.2_Missense_Mutation_p.G356R	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	377	UBA 2.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAAGGCATTAGGATTTCCTGA	0.328000								Direct reversal of damage;Nucleotide excision repair (NER)						58			28		0	0	0.037714	0	0
SLC30A1	7779	broad.mit.edu	37	1	211749303	211749308	+	In_Frame_Del	DEL	ATCTAA	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr1:211749303_211749308delATCTAA	uc001hio.1	-	1	1091_1096	c.946_951delTTAGAT	c.(946-951)ttagatdel	p.LD316del		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 1 (SLC30A1), mRNA.	316					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	T-tubule|integral to membrane	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	p.D317Y(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		AAAGAGTTGGATCTAAATATAGCACC	0.364													---	23	---	---	72	---					
RNF103	7844	broad.mit.edu	37	2	86790455	86790455	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr2:86790455delT	uc002srj.3	-	0	166	c.17delA	c.(16-18)aagfs	p.K6fs	RNF103_uc002srk.3_5'UTR|RNF103_uc021vkf.1_5'UTR|RNF103_uc002srl.3_Frame_Shift_Del_p.K6fs|RNF103_uc010ytl.2_Intron	NM_016079	NP_001005753	O00237	RN103_HUMAN	Homo sapiens charged multivesicular body protein 3 (CHMP3), transcript variant 1, mRNA.	0					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CTCCTGGGTCTTTCCAAACAG	0.632													---	127	---	---	93	---					
KIAA1109	84162	broad.mit.edu	37	4	123229112	123229112	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr4:123229112delT	uc003ieh.3	+	55	9895	c.9850delT	c.(9850-9852)tttfs	p.F3284fs	KIAA1109_uc003iel.1_Frame_Shift_Del_p.F1219fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3284					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGCTGTGCTGTTTTGGCTGAA	0.343													---	108	---	---	65	---					
MOCS2	4338	broad.mit.edu	37	5	52397195	52397196	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr5:52397195_52397196insT	uc003joz.3	-	4	784_785	c.370_371insA	c.(370-372)agafs	p.R124fs	MOCS2_uc011cqf.2_3'UTR	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				ATACCCAAGTCTATGGAACACT	0.342													---	93	---	---	83	---					
HSPA9	3313	broad.mit.edu	37	5	137904733	137904733	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr5:137904733delT	uc003ldf.3	-	4	727	c.416delA	c.(415-417)aatfs	p.N139fs	HSPA9_uc011cyw.2_Frame_Shift_Del_p.N70fs	NM_004134	NP_004125	P38646	GRP75_HUMAN	Homo sapiens heat shock 70kDa protein 9 (mortalin) (HSPA9), nuclear gene encoding mitochondrial protein, mRNA.	139					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAGGGAACATTTTTACTGTA	0.403													---	63	---	---	40	---					
COL19A1	1310	broad.mit.edu	37	6	70866589	70866589	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr6:70866589delG	uc003pfc.1	+	33	2383	c.2266delG	c.(2266-2268)gggfs	p.G756fs	COL19A1_uc010kam.2_Frame_Shift_Del_p.G652fs	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	756	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGGCTACCCTGGGATACCTGG	0.378													---	14	---	---	7	---					
FERD3L	222894	broad.mit.edu	37	7	19184646	19184646	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr7:19184646delT	uc003suo.1	-	0	399	c.340delA	c.(340-342)atgfs	p.M114fs	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	114	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						AGGTTGAACATCCGCTTCCTT	0.612													---	54	---	---	26	---					
SEMA3D	223117	broad.mit.edu	37	7	84636164	84636164	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr7:84636164delG	uc003uic.3	-	15	1902	c.1862delC	c.(1861-1863)actfs	p.T621fs	SEMA3D_uc010led.3_Frame_Shift_Del_p.T621fs|SEMA3D_uc003uib.3_Frame_Shift_Del_p.T260fs	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	621	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCATTTAATAGTTGCTTGTTG	0.388													---	136	---	---	305	---					
NEIL2	252969	broad.mit.edu	37	8	11637150	11637150	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr8:11637150delA	uc003wug.2	+	2	857	c.182delA	c.(181-183)gaafs	p.E61fs	NEIL2_uc003wue.2_Frame_Shift_Del_p.E61fs|NEIL2_uc003wuf.2_5'UTR|NEIL2_uc011kxd.1_Intron	NM_145043	NP_001129219	Q969S2	NEIL2_HUMAN	Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA.	61					base-excision repair|nucleotide-excision repair	nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CTAGATGAAGAAATGGGGCCC	0.527								Base excision repair (BER), DNA glycosylases					---	99	---	---	91	---					
RAD54B	25788	broad.mit.edu	37	8	95419720	95419720	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr8:95419720delT	uc003ygk.3	-	4	859	c.728delA	c.(727-729)aatfs	p.N243fs	RAD54B_uc010may.2_Frame_Shift_Del_p.N59fs|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATTCTGTCTATTTTCCTTTGA	0.353								Direct reversal of damage;Homologous recombination					---	59	---	---	58	---					
SIDT2	51092	broad.mit.edu	37	11	117058116	117058118	+	In_Frame_Del	DEL	TTC	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr11:117058116_117058118delTTC	uc001pqg.2	+	10	1079_1081	c.1038_1040delTTC	c.(1036-1041)gattct>gat	p.S347del	SIDT2_uc010rxe.1_In_Frame_Del_p.S347del|SIDT2_uc001pqh.1_In_Frame_Del_p.S347del|SIDT2_uc001pqi.1_In_Frame_Del_p.S351del	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.	347						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TCCTGGCTGATTCTTTTCCTGGC	0.517													---	97	---	---	58	---					
DLGAP5	9787	broad.mit.edu	37	14	55655750	55655751	+	Frame_Shift_Ins	INS	-	AT	AT			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr14:55655750_55655751insAT	uc001xbs.3	-	1	364_365	c.147_148insAT	c.(145-150)gatgtafs	p.D49fs	DLGAP5_uc001xbt.3_Frame_Shift_Ins_p.D49fs	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	49					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GGAATGTTTACATCTTTCAAAC	0.347													---	15	---	---	28	---					
DISP2	85455	broad.mit.edu	37	15	40661086	40661086	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr15:40661086delA	uc001zlk.1	+	7	2862	c.2773delA	c.(2773-2775)aatfs	p.N925fs		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	925					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCTCTTCTACAATGAGGTCAG	0.602													---	60	---	---	40	---					
TTC3	7267	broad.mit.edu	37	21	38568034	38568035	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	c4639d70-5aff-4a23-b1bd-33ce71bff272	g.chr21:38568034_38568035insT	uc002yvz.3	+	41	5381_5382	c.5276_5277insT	c.(5275-5277)tctfs	p.S1759fs	TTC3_uc002ywa.3_Frame_Shift_Ins_p.S1759fs|TTC3_uc002ywb.3_Frame_Shift_Ins_p.S1759fs|TTC3_uc010gnf.3_Frame_Shift_Ins_p.S1524fs|TTC3_uc002ywc.3_Frame_Shift_Ins_p.S1449fs	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1759					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTTGTGACTTCTGCAAGCGACG	0.569													---	176	---	---	129	---					
SLC30A1	7779	broad.mit.edu	37	1	211749303	211749308	+	In_Frame_Del	DEL	ATCTAA	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr1:211749303_211749308delATCTAA	uc001hio.1	-	1	1091_1096	c.946_951delTTAGAT	c.(946-951)ttagatdel	p.LD316del		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 1 (SLC30A1), mRNA.	316					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	T-tubule|integral to membrane	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	p.D317Y(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		AAAGAGTTGGATCTAAATATAGCACC	0.364													---	23	---	---	72	---					
RNF103	7844	broad.mit.edu	37	2	86790455	86790455	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr2:86790455delT	uc002srj.3	-	0	166	c.17delA	c.(16-18)aagfs	p.K6fs	RNF103_uc002srk.3_5'UTR|RNF103_uc021vkf.1_5'UTR|RNF103_uc002srl.3_Frame_Shift_Del_p.K6fs|RNF103_uc010ytl.2_Intron	NM_016079	NP_001005753	O00237	RN103_HUMAN	Homo sapiens charged multivesicular body protein 3 (CHMP3), transcript variant 1, mRNA.	0					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CTCCTGGGTCTTTCCAAACAG	0.632													---	127	---	---	93	---					
KIAA1109	84162	broad.mit.edu	37	4	123229112	123229112	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr4:123229112delT	uc003ieh.3	+	55	9895	c.9850delT	c.(9850-9852)tttfs	p.F3284fs	KIAA1109_uc003iel.1_Frame_Shift_Del_p.F1219fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3284					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGCTGTGCTGTTTTGGCTGAA	0.343													---	108	---	---	65	---					
MOCS2	4338	broad.mit.edu	37	5	52397195	52397196	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr5:52397195_52397196insT	uc003joz.3	-	4	784_785	c.370_371insA	c.(370-372)agafs	p.R124fs	MOCS2_uc011cqf.2_3'UTR	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				ATACCCAAGTCTATGGAACACT	0.342													---	93	---	---	83	---					
HSPA9	3313	broad.mit.edu	37	5	137904733	137904733	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr5:137904733delT	uc003ldf.3	-	4	727	c.416delA	c.(415-417)aatfs	p.N139fs	HSPA9_uc011cyw.2_Frame_Shift_Del_p.N70fs	NM_004134	NP_004125	P38646	GRP75_HUMAN	Homo sapiens heat shock 70kDa protein 9 (mortalin) (HSPA9), nuclear gene encoding mitochondrial protein, mRNA.	139					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAGGGAACATTTTTACTGTA	0.403													---	63	---	---	40	---					
COL19A1	1310	broad.mit.edu	37	6	70866589	70866589	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr6:70866589delG	uc003pfc.1	+	33	2383	c.2266delG	c.(2266-2268)gggfs	p.G756fs	COL19A1_uc010kam.2_Frame_Shift_Del_p.G652fs	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	756	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGGCTACCCTGGGATACCTGG	0.378													---	14	---	---	7	---					
FERD3L	222894	broad.mit.edu	37	7	19184646	19184646	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr7:19184646delT	uc003suo.1	-	0	399	c.340delA	c.(340-342)atgfs	p.M114fs	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	114	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						AGGTTGAACATCCGCTTCCTT	0.612													---	54	---	---	26	---					
SEMA3D	223117	broad.mit.edu	37	7	84636164	84636164	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr7:84636164delG	uc003uic.3	-	15	1902	c.1862delC	c.(1861-1863)actfs	p.T621fs	SEMA3D_uc010led.3_Frame_Shift_Del_p.T621fs|SEMA3D_uc003uib.3_Frame_Shift_Del_p.T260fs	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	621	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCATTTAATAGTTGCTTGTTG	0.388													---	136	---	---	305	---					
NEIL2	252969	broad.mit.edu	37	8	11637150	11637150	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr8:11637150delA	uc003wug.2	+	2	857	c.182delA	c.(181-183)gaafs	p.E61fs	NEIL2_uc003wue.2_Frame_Shift_Del_p.E61fs|NEIL2_uc003wuf.2_5'UTR|NEIL2_uc011kxd.1_Intron	NM_145043	NP_001129219	Q969S2	NEIL2_HUMAN	Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA.	61					base-excision repair|nucleotide-excision repair	nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CTAGATGAAGAAATGGGGCCC	0.527								Base excision repair (BER), DNA glycosylases					---	99	---	---	91	---					
RAD54B	25788	broad.mit.edu	37	8	95419720	95419720	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr8:95419720delT	uc003ygk.3	-	4	859	c.728delA	c.(727-729)aatfs	p.N243fs	RAD54B_uc010may.2_Frame_Shift_Del_p.N59fs|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATTCTGTCTATTTTCCTTTGA	0.353								Direct reversal of damage;Homologous recombination					---	59	---	---	58	---					
SIDT2	51092	broad.mit.edu	37	11	117058116	117058118	+	In_Frame_Del	DEL	TTC	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr11:117058116_117058118delTTC	uc001pqg.2	+	10	1079_1081	c.1038_1040delTTC	c.(1036-1041)gattct>gat	p.S347del	SIDT2_uc010rxe.1_In_Frame_Del_p.S347del|SIDT2_uc001pqh.1_In_Frame_Del_p.S347del|SIDT2_uc001pqi.1_In_Frame_Del_p.S351del	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.	347						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TCCTGGCTGATTCTTTTCCTGGC	0.517													---	97	---	---	58	---					
DLGAP5	9787	broad.mit.edu	37	14	55655750	55655751	+	Frame_Shift_Ins	INS	-	AT	AT			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr14:55655750_55655751insAT	uc001xbs.3	-	1	364_365	c.147_148insAT	c.(145-150)gatgtafs	p.D49fs	DLGAP5_uc001xbt.3_Frame_Shift_Ins_p.D49fs	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	49					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GGAATGTTTACATCTTTCAAAC	0.347													---	15	---	---	28	---					
DISP2	85455	broad.mit.edu	37	15	40661086	40661086	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr15:40661086delA	uc001zlk.1	+	7	2862	c.2773delA	c.(2773-2775)aatfs	p.N925fs		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	925					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCTCTTCTACAATGAGGTCAG	0.602													---	60	---	---	40	---					
TTC3	7267	broad.mit.edu	37	21	38568034	38568035	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GL-8500-01A-11D-2396-08	TCGA-GL-8500-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41177191-296c-48e7-945d-6b382e01efef	254114d7-ccd3-44cb-a582-8e0d8fe177b2	g.chr21:38568034_38568035insT	uc002yvz.3	+	41	5381_5382	c.5276_5277insT	c.(5275-5277)tctfs	p.S1759fs	TTC3_uc002ywa.3_Frame_Shift_Ins_p.S1759fs|TTC3_uc002ywb.3_Frame_Shift_Ins_p.S1759fs|TTC3_uc010gnf.3_Frame_Shift_Ins_p.S1524fs|TTC3_uc002ywc.3_Frame_Shift_Ins_p.S1449fs	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1759					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTTGTGACTTCTGCAAGCGACG	0.569													---	176	---	---	129	---					
