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	Genome_Change	Annotation_Transcript	Transcript_Strand	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	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
GOT1	2805	broad.mit.edu	36	10	101152442	101152442	+	Missense_Mutation	SNP	G	T	T			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:101152442G>T	uc001kpr.1	-	c.987C>A	c.(985-987)GAC>GAA	p.D329E	GOT1_uc001kpq.1_Missense_Mutation_p.D42E|GOT1_uc009xwh.1_Non-coding_Transcript	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1	329					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	Melanoma(173;770 3544 21601)								0.820225	248.524478	257.107074	73	16	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101152442	101152442	6852	10	G	T	T	44	44	GOT1	T	3	3
PNLIPRP2	5408	broad.mit.edu	36	10	118375461	118375461	+	Silent	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:118375461G>A	uc001lcq.1	+	c.222G>A	c.(220-222)ACG>ACA	p.T74T	PNLIPRP2_uc009xyt.1_5'UTR|PNLIPRP2_uc009xyu.1_Non-coding_Transcript|PNLIPRP2_uc009xyv.1_Non-coding_Transcript	NM_005396	NP_005387	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2	73					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)										0.857143	61.665213	64.256679	18	3	GG		KEEP	---	---	---	---	capture			Silent	SNP	118375461	118375461	12577	10	G	A	A	39	39	PNLIPRP2	A	1	1
LRRC18	474354	broad.mit.edu	36	10	49791980	49791980	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:49791980C>T	uc001jhd.1	-	c.227G>A	c.(226-228)CGG>CAG	p.R76Q	WDFY4_uc001jha.2_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R76Q	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	76	LRR 3.					cytoplasm				ovary(1)|pancreas(1)	2														0.870968	93.244887	97.401782	27	4	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49791980	49791980	9348	10	C	T	T	23	23	LRRC18	T	1	1
OR8D1	283159	broad.mit.edu	36	11	123685657	123685657	+	Silent	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123685657G>A	uc001pzy.1	-	c.216C>T	c.(214-216)TGC>TGT	p.C72C		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)										0.454545	344.119741	344.555622	110	132	GG		KEEP	---	---	---	---	capture			Silent	SNP	123685657	123685657	11642	11	G	A	A	34	34	OR8D1	A	2	2
OVCH1	341350	broad.mit.edu	36	12	29533829	29533829	+	Silent	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:29533829G>A	uc001rix.1	-	c.693C>T	c.(691-693)GAC>GAT	p.D231D		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1	231	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)													0.413793	34.095306	34.283202	12	17	GG		KEEP	---	---	---	---	capture			Silent	SNP	29533829	29533829	11736	12	G	A	A	40	40	OVCH1	A	1	1
VWF	7450	broad.mit.edu	36	12	5998111	5998111	+	Silent	SNP	A	G	G			TCGA-12-3648-01	TCGA-12-3648-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:5998111A>G	uc001qnn.1	-	c.4734T>C	c.(4732-4734)ACT>ACC	p.T1578T		NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1578	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7					Antihemophilic Factor(DB00025)									0.083123	11.381818	81.505232	33	364	AA		KEEP	---	---	---	---	capture			Silent	SNP	5998111	5998111	17818	12	A	G	G	7	7	VWF	G	4	4
SLC6A15	55117	broad.mit.edu	36	12	83801948	83801948	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:83801948C>T	uc001szv.1	-	c.577G>A	c.(577-579)GTA>ATA	p.V193I	SLC6A15_uc001szy.1_Missense_Mutation_p.V193I	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	193	Extracellular (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3														0.430769	82.184297	82.45694	28	37	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	83801948	83801948	15175	12	C	T	T	17	17	SLC6A15	T	2	2
ANKS1B	56899	broad.mit.edu	36	12	98573047	98573047	+	Missense_Mutation	SNP	G	T	T			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:98573047G>T	uc001tge.1	-	c.1201C>A	c.(1201-1203)CCA>ACA	p.P401T	ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.P367T	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	401						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)										0.47486	262.971241	263.068774	85	94	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	98573047	98573047	697	12	G	T	T	42	42	ANKS1B	T	3	3
ANKS1B	56899	broad.mit.edu	36	12	98573120	98573120	+	Splice_Site_SNP	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:98573120C>T	uc001tge.1	-	c.e9_splice_site			ANKS1B_uc001tgf.1_Splice_Site_SNP|ANKS1B_uc009ztt.1_Splice_Site_SNP	NM_152788	NP_690001			cajalin 2 isoform a							Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)										0.482143	86.421681	86.437228	27	29	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	98573120	98573120	697	12	C	T	T	32	32	ANKS1B	T	5	2
DLK1	8788	broad.mit.edu	36	14	100270482	100270482	+	Silent	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:100270482G>A	uc001yhs.2	+	c.648G>A	c.(646-648)CCG>CCA	p.P216P	DLK1_uc001yhu.2_Silent_p.P216P	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog	216	Extracellular (Potential).|EGF-like 6.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)	2		Melanoma(154;0.155)												0.551724	48.300287	48.367622	16	13	GG		KEEP	---	---	---	---	capture			Silent	SNP	100270482	100270482	4744	14	G	A	A	40	40	DLK1	A	1	1
UBE3A	7337	broad.mit.edu	36	15	23171976	23171976	+	Missense_Mutation	SNP	T	C	C			TCGA-12-3648-01	TCGA-12-3648-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr15:23171976T>C	uc001zaq.1	-	c.99A>G	c.(97-99)ATA>ATG	p.I33M	UBE3A_uc001zar.1_Missense_Mutation_p.I10M|UBE3A_uc001zas.1_Missense_Mutation_p.I30M|UBE3A_uc001zat.1_Missense_Mutation_p.I10M	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	33					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity				0		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)										0.516667	212.44391	212.472593	62	58	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23171976	23171976	17437	15	T	C	C	53	53	UBE3A	C	4	4
VPS18	57617	broad.mit.edu	36	15	38978936	38978936	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:38978936G>A	uc001zne.1	+	c.628G>A	c.(628-630)GCC>ACC	p.A210T		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	210					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)										0.377049	65.634066	66.43399	23	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38978936	38978936	17761	15	G	A	A	42	42	VPS18	A	2	2
POLG	5428	broad.mit.edu	36	15	87674485	87674485	+	Missense_Mutation	SNP	A	C	C			TCGA-12-3648-01	TCGA-12-3648-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:87674485A>C	uc002bns.2	-	c.686T>G	c.(685-687)GTG>GGG	p.V229G	POLG_uc002bnr.2_Missense_Mutation_p.V229G	NM_002693	NP_002684	P54098	DPOG1_HUMAN	DNA polymerase gamma	229					base-excision repair, gap-filling|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			Colon(73;648 1203 11348 18386 27782)								0.375	6.720893	6.831278	3	5	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	87674485	87674485	12628	15	A	C	C	6	6	POLG	C	4	4
ARRB2	409	broad.mit.edu	36	17	4569435	4569435	+	Silent	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4569435C>T	uc002fyl.1	+	c.888C>T	c.(886-888)CAC>CAT	p.H296H	ARRB2_uc002fyj.1_Silent_p.H296H|ARRB2_uc002fyk.1_Silent_p.H281H|ARRB2_uc002fym.1_Silent_p.H281H|ARRB2_uc002fyn.1_Silent_p.H104H|ARRB2_uc010ckq.1_Silent_p.H104H|ARRB2_uc002fyo.1_Silent_p.H104H	NM_004313	NP_004304	P32121	ARRB2_HUMAN	arrestin, beta 2 isoform 1	296	Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding				0														0.409091	130.14601	130.941336	45	65	CC		KEEP	---	---	---	---	capture			Silent	SNP	4569435	4569435	999	17	C	T	T	19	19	ARRB2	T	1	1
SSTR2	6752	broad.mit.edu	36	17	68677704	68677704	+	Silent	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:68677704C>T	uc002jje.1	+	c.651C>T	c.(649-651)TTC>TTT	p.F217F	SSTR2_uc010dfi.1_Silent_p.F217F	NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	217	Helical; Name=5; (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)											0.361111	73.635899	74.855795	26	46	CC		KEEP	---	---	---	---	capture			Silent	SNP	68677704	68677704	15714	17	C	T	T	30	30	SSTR2	T	2	2
HEXDC	284004	broad.mit.edu	36	17	77990871	77990871	+	Silent	SNP	T	A	A			TCGA-12-3648-01	TCGA-12-3648-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:77990871T>A	uc002kev.2	+	c.975T>A	c.(973-975)CTT>CTA	p.L325L	HEXDC_uc010diq.1_Silent_p.L325L|HEXDC_uc002kew.1_Silent_p.L325L	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20,	325					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)											0.5	23.344342	23.344342	8	8	TT		KEEP	---	---	---	---	capture			Silent	SNP	77990871	77990871	7358	17	T	A	A	62	62	HEXDC	A	4	4
DSC3	1825	broad.mit.edu	36	18	26830800	26830800	+	Silent	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:26830800G>A	uc002kwj.2	-	c.2448C>T	c.(2446-2448)TAC>TAT	p.Y816Y	DSC3_uc002kwi.2_Silent_p.Y816Y	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	816	Cytoplasmic (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(10;0.125)											0.438503	241.11211	241.730176	82	105	GG		KEEP	---	---	---	---	capture			Silent	SNP	26830800	26830800	4951	18	G	A	A	48	48	DSC3	A	2	2
CCBE1	147372	broad.mit.edu	36	18	55287706	55287706	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:55287706G>A	uc002lib.1	-	c.379C>T	c.(379-381)CGG>TGG	p.R127W		NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	127					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			ovary(1)	1		Colorectal(73;0.175)				NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)								0.453947	195.053246	195.333928	69	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55287706	55287706	2851	18	G	A	A	38	38	CCBE1	A	1	1
NETO1	81832	broad.mit.edu	36	18	68683113	68683113	+	Missense_Mutation	SNP	A	T	T			TCGA-12-3648-01	TCGA-12-3648-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr18:68683113A>T	uc002lkw.2	-	c.130T>A	c.(130-132)TGG>AGG	p.W44R	NETO1_uc002lkx.1_Missense_Mutation_p.W43R|NETO1_uc002lky.1_Missense_Mutation_p.W44R|NETO1_uc002lkz.1_Missense_Mutation_p.W43R	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	44	CUB 1.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)	2		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)										0.2	12.560861	14.653135	5	20	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68683113	68683113	10738	18	A	T	T	5	5	NETO1	T	4	4
GTPBP3	84705	broad.mit.edu	36	19	17310445	17310445	+	Silent	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:17310445G>A	uc002ngg.2	+	c.486G>A	c.(484-486)GCG>GCA	p.A162A	GTPBP3_uc010ear.1_Non-coding_Transcript|GTPBP3_uc002ngh.2_Silent_p.A162A|GTPBP3_uc010eas.1_Silent_p.A162A|GTPBP3_uc002ngi.2_5'UTR	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform	162					tRNA modification	mitochondrion	GTP binding|GTPase activity				0														0.416667	45.819402	46.037076	15	21	GG		KEEP	---	---	---	---	capture			Silent	SNP	17310445	17310445	7161	19	G	A	A	39	39	GTPBP3	A	1	1
DMKN	93099	broad.mit.edu	36	19	40692667	40692667	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40692667C>T	uc002nzm.2	-	c.1024G>A	c.(1024-1026)GAA>AAA	p.E342K	DMKN_uc002nzj.1_5'UTR|DMKN_uc002nzk.2_5'UTR|DMKN_uc002nzl.2_Missense_Mutation_p.E55K|DMKN_uc002nzo.2_Missense_Mutation_p.E281K|DMKN_uc002nzn.2_Missense_Mutation_p.E281K|DMKN_uc002nzw.2_5'UTR|DMKN_uc002nzr.2_5'UTR|DMKN_uc002nzp.2_5'UTR|DMKN_uc002nzq.2_5'UTR|DMKN_uc002nzt.2_5'UTR|DMKN_uc002nzs.2_5'UTR|DMKN_uc002nzu.2_Intron|DMKN_uc002nzv.2_Intron|DMKN_uc002nzx.2_Non-coding_Transcript|DMKN_uc002nzy.2_Intron|DMKN_uc002nzz.1_Non-coding_Transcript|DMKN_uc002oac.2_Intron|DMKN_uc010eeb.1_Missense_Mutation_p.E342K|DMKN_uc002oaa.2_Missense_Mutation_p.E342K|DMKN_uc002oab.2_Missense_Mutation_p.E342K	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	342	Gly-rich.					extracellular region				large_intestine(1)|ovary(1)	2	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)									OREG0025431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.306358	142.209351	147.995255	53	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40692667	40692667	4762	19	C	T	T	30	30	DMKN	T	2	2
WDR62	284403	broad.mit.edu	36	19	41254404	41254404	+	Missense_Mutation	SNP	A	G	G			TCGA-12-3648-01	TCGA-12-3648-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:41254404A>G	uc002odd.2	+	c.989A>G	c.(988-990)AAC>AGC	p.N330S	WDR62_uc002odc.2_Missense_Mutation_p.N330S|WDR62_uc002odb.2_Missense_Mutation_p.N330S	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 1	330	WD 4.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)											0.26506	64.318665	68.455141	22	61	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41254404	41254404	17886	19	A	G	G	2	2	WDR62	G	4	4
FAM83E	54854	broad.mit.edu	36	19	53808174	53808174	+	Missense_Mutation	SNP	T	G	G			TCGA-12-3648-01	TCGA-12-3648-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53808174T>G	uc002pjn.2	-	c.268A>C	c.(268-270)ACC>CCC	p.T90P		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	90										ovary(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)										0.222222	7.686249	8.970887	4	14	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53808174	53808174	5863	19	T	G	G	59	59	FAM83E	G	4	4
IL4I1	259307	broad.mit.edu	36	19	55089400	55089400	+	Silent	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:55089400G>A	uc002pqu.1	-	c.570C>T	c.(568-570)TAC>TAT	p.Y190Y	IL4I1_uc002pqw.1_Silent_p.Y190Y|IL4I1_uc002pqv.1_Silent_p.Y177Y|IL4I1_uc010eno.1_Silent_p.Y176Y|IL4I1_uc002pqt.1_Silent_p.Y168Y	NM_172374	NP_758962	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 2	168					oxidation-reduction process	lysosome	L-amino-acid oxidase activity			ovary(1)	1		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)										0.27907	32.88581	34.770838	12	31	GG		KEEP	---	---	---	---	capture			Silent	SNP	55089400	55089400	7998	19	G	A	A	40	40	IL4I1	A	1	1
PRAMEF4	400735	broad.mit.edu	36	1	12865760	12865760	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12865760C>T	uc001aun.2	-	c.43G>A	c.(43-45)GCA>ACA	p.A15T	PRAMEF4_uc009vnp.1_Intron	NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	PRAME family member 4	15										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.915344	585.011567	618.09471	173	16	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12865760	12865760	12877	1	C	T	T	25	25	PRAMEF4	T	2	2
FBLIM1	54751	broad.mit.edu	36	1	15969598	15969598	+	Missense_Mutation	SNP	C	G	G			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:15969598C>G	uc001axg.1	+	c.649C>G	c.(649-651)CAG>GAG	p.Q217E	FBLIM1_uc001axd.1_Missense_Mutation_p.Q217E|FBLIM1_uc001axe.1_Missense_Mutation_p.Q217E|FBLIM1_uc001axf.1_Non-coding_Transcript|FBLIM1_uc001axh.1_Missense_Mutation_p.Q120E|FBLIM1_uc001axi.1_Missense_Mutation_p.Q120E	NM_001024215	NP_001019386	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform b	217	LIM zinc-binding 1.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)										0.16	7.017013	9.742779	4	21	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15969598	15969598	5933	1	C	G	G	21	21	FBLIM1	G	3	3
NLRP3	114548	broad.mit.edu	36	1	245648994	245648994	+	Missense_Mutation	SNP	C	G	G			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245648994C>G	uc001icr.1	+	c.275C>G	c.(274-276)CCG>CGG	p.P92R	NLRP3_uc001ics.1_Missense_Mutation_p.P92R|NLRP3_uc001ict.1_Missense_Mutation_p.P90R|NLRP3_uc001icu.1_Missense_Mutation_p.P92R|NLRP3_uc001icw.1_Missense_Mutation_p.P92R|NLRP3_uc001icv.1_Missense_Mutation_p.P92R	NM_001079821	NP_004886	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	92	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.353659	89.55729	91.102581	29	53	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	245648994	245648994	10881	1	C	G	G	23	23	NLRP3	G	3	3
ESF1	51575	broad.mit.edu	36	20	13700074	13700074	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:13700074C>T	uc002woj.1	-	c.1306G>A	c.(1306-1308)GCA>ACA	p.A436T	ESF1_uc002wok.1_Missense_Mutation_p.A436T	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1														0.266667	141.596033	151.930565	56	154	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13700074	13700074	5444	20	C	T	T	25	25	ESF1	T	2	2
RBM12	10137	broad.mit.edu	36	20	33706372	33706372	+	Missense_Mutation	SNP	T	C	C			TCGA-12-3648-01	TCGA-12-3648-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33706372T>C	uc002xdq.1	-	c.287A>G	c.(286-288)GAT>GGT	p.D96G	CPNE1_uc002xdd.1_5'Flank|CPNE1_uc002xde.1_Intron|CPNE1_uc002xdf.1_Intron|CPNE1_uc002xdg.1_Intron|CPNE1_uc010gfi.1_Intron|CPNE1_uc010gfj.1_Intron|CPNE1_uc002xdh.1_Intron|CPNE1_uc002xdi.1_Intron|CPNE1_uc002xdj.1_Intron|CPNE1_uc002xdk.1_Intron|CPNE1_uc002xdl.1_Intron|CPNE1_uc002xdm.1_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.1_Missense_Mutation_p.D96G|RBM12_uc002xds.1_Missense_Mutation_p.D96G|RBM12_uc010gfl.1_Missense_Mutation_p.D96G	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	96						nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)									OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.271144	311.196556	330.186385	109	293	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33706372	33706372	13574	20	T	C	C	50	50	RBM12	C	4	4
SALL4	57167	broad.mit.edu	36	20	49840449	49840449	+	Missense_Mutation	SNP	C	G	G			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:49840449C>G	uc002xwh.2	-	c.1980G>C	c.(1978-1980)GAG>GAC	p.E660D	SALL4_uc010gii.1_Intron|SALL4_uc002xwi.2_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	660					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.325581	45.238103	46.397208	14	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49840449	49840449	14293	20	C	G	G	32	32	SALL4	G	3	3
DIP2A	23181	broad.mit.edu	36	21	46743126	46743126	+	Missense_Mutation	SNP	G	C	C			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:46743126G>C	uc002zjo.1	+	c.607G>C	c.(607-609)GCC>CCC	p.A203P	DIP2A_uc002zjn.1_Missense_Mutation_p.A203P|DIP2A_uc002zjl.1_Missense_Mutation_p.A203P|DIP2A_uc002zjm.1_Missense_Mutation_p.A203P|DIP2A_uc010gql.1_Missense_Mutation_p.A203P	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	DIP2-like protein isoform a	203					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)										0.227273	6.758556	8.277281	5	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	46743126	46743126	4706	21	G	C	C	42	42	DIP2A	C	3	3
ISX	91464	broad.mit.edu	36	22	33808606	33808606	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:33808606G>A	uc003anj.1	+	c.325G>A	c.(325-327)GTT>ATT	p.V109I		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	109	Homeobox.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(3)	3														0.423077	262.471027	263.542686	88	120	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33808606	33808606	8169	22	G	A	A	40	40	ISX	A	1	1
LDOC1L	84247	broad.mit.edu	36	22	43271544	43271544	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:43271544C>T	uc003beu.1	-	c.557G>A	c.(556-558)CGC>CAC	p.R186H	LDOC1L_uc010gzs.1_Missense_Mutation_p.R186H	NM_032287	NP_115663	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	186										ovary(1)	1		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)										0.583333	43.774877	43.928941	14	10	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	43271544	43271544	9034	22	C	T	T	27	27	LDOC1L	T	1	1
SBF1	6305	broad.mit.edu	36	22	49233579	49233579	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:49233579C>T	uc003blh.1	-	c.5312G>A	c.(5311-5313)CGC>CAC	p.R1771H	SBF1_uc003ble.1_Missense_Mutation_p.R235H|SBF1_uc003blf.1_Missense_Mutation_p.R247H|SBF1_uc003blg.1_Missense_Mutation_p.R1745H	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1 isoform a	1745					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)										0.375	25.669082	25.998278	9	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	49233579	49233579	14339	22	C	T	T	27	27	SBF1	T	1	1
PSD4	23550	broad.mit.edu	36	2	113656750	113656750	+	Silent	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:113656750C>T	uc002tjc.1	+	c.246C>T	c.(244-246)GAC>GAT	p.D82D	PSD4_uc002tjd.1_De_novo_Start_InFrame|PSD4_uc002tje.1_Silent_p.D81D|PSD4_uc002tjf.1_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	82					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2														0.428571	44.220674	44.375987	15	20	CC		KEEP	---	---	---	---	capture			Silent	SNP	113656750	113656750	13102	2	C	T	T	19	19	PSD4	T	1	1
TPO	7173	broad.mit.edu	36	2	1436492	1436492	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:1436492G>A	uc002qwr.1	+	c.502G>A	c.(502-504)GCC>ACC	p.A168T	TPO_uc010ewj.1_Intron|TPO_uc002qwt.1_Missense_Mutation_p.A168T|TPO_uc002qwu.1_Missense_Mutation_p.A168T|TPO_uc002qwv.1_Missense_Mutation_p.A168T|TPO_uc002qww.1_Missense_Mutation_p.A168T|TPO_uc002qwx.1_Missense_Mutation_p.A168T	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	168	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(6)|pancreas(6)|skin(3)|lung(1)|kidney(1)	17	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)					723				0.439024	104.086056	104.351662	36	46	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	1436492	1436492	16954	2	G	A	A	38	38	TPO	A	1	1
WDR92	116143	broad.mit.edu	36	2	68215410	68215410	+	Missense_Mutation	SNP	A	C	C			TCGA-12-3648-01	TCGA-12-3648-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:68215410A>C	uc002see.1	-	c.794T>G	c.(793-795)GTC>GGC	p.V265G	WDR92_uc002sed.1_Non-coding_Transcript|WDR92_uc002sef.1_Missense_Mutation_p.V265G|WDR92_uc002seg.1_Missense_Mutation_p.V164G	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN	monad	265	WD 5.				apoptosis|histone lysine methylation		methylated histone residue binding				0														0.428571	8.825186	8.979934	9	12	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	68215410	68215410	17913	2	A	C	C	10	10	WDR92	C	4	4
ADRA2B	151	broad.mit.edu	36	2	96144377	96144377	+	Nonsense_Mutation	SNP	G	T	T			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96144377G>T	uc002svi.1	-	c.1248C>A	c.(1246-1248)TAC>TAA	p.Y416*		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	416	Helical; Name=7; (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)									0.285714	8.449306	9.060865	4	10	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	96144377	96144377	339	2	G	T	T	36	36	ADRA2B	T	5	3
SLCO2A1	6578	broad.mit.edu	36	3	135136323	135136323	+	Missense_Mutation	SNP	A	G	G			TCGA-12-3648-01	TCGA-12-3648-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr3:135136323A>G	uc003eqa.2	-	c.1856T>C	c.(1855-1857)CTG>CCG	p.L619P	SLCO2A1_uc003eqb.2_Missense_Mutation_p.L543P	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	619	Helical; Name=12; (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1														0.333333	53.831906	55.160387	18	36	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135136323	135136323	15223	3	A	G	G	7	7	SLCO2A1	G	4	4
EPHB1	2047	broad.mit.edu	36	3	136450941	136450941	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:136450941G>A	uc003eqt.1	+	c.2764G>A	c.(2764-2766)GCC>ACC	p.A922T	EPHB1_uc003equ.1_Missense_Mutation_p.A483T	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	922	Cytoplasmic (Potential).|SAM.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.508251	472.832086	472.849981	154	149	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	136450941	136450941	5367	3	G	A	A	38	38	EPHB1	A	1	1
MSL2	55167	broad.mit.edu	36	3	137353577	137353577	+	Missense_Mutation	SNP	G	C	C			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:137353577G>C	uc003eqx.1	-	c.836C>G	c.(835-837)ACT>AGT	p.T279S		NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	279					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1														0.5	223.549707	223.549707	66	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	137353577	137353577	10271	3	G	C	C	36	36	MSL2	C	3	3
EFHB	151651	broad.mit.edu	36	3	19950459	19950459	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:19950459C>T	uc003cbl.2	-	c.56G>A	c.(55-57)AGG>AAG	p.R19K	EFHB_uc003cbm.1_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	19					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0														0.454545	61.99561	62.074614	20	24	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19950459	19950459	5133	3	C	T	T	24	24	EFHB	T	2	2
CMTM8	152189	broad.mit.edu	36	3	32373942	32373942	+	Missense_Mutation	SNP	T	C	C			TCGA-12-3648-01	TCGA-12-3648-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:32373942T>C	uc003cex.1	+	c.221T>C	c.(220-222)ATG>ACG	p.M74T	CMTM8_uc010hfu.1_Intron	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing	74	Helical; (Potential).|MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0														0.45	164.430634	164.692413	54	66	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32373942	32373942	3727	3	T	C	C	51	51	CMTM8	C	4	4
CAMKV	79012	broad.mit.edu	36	3	49872665	49872665	+	Silent	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:49872665G>A	uc003cxt.1	-	c.885C>T	c.(883-885)AAC>AAT	p.N295N	CAMKV_uc003cxu.1_Silent_p.N295N|CAMKV_uc003cxv.1_Silent_p.N267N|CAMKV_uc003cxw.1_Silent_p.N127N|CAMKV_uc003cxx.1_Silent_p.N127N	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	295					protein phosphorylation	cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)						82				0.303371	71.59074	74.662317	27	62	GG		KEEP	---	---	---	---	capture			Silent	SNP	49872665	49872665	2725	3	G	A	A	48	48	CAMKV	A	2	2
PXK	54899	broad.mit.edu	36	3	58358432	58358432	+	Nonsense_Mutation	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:58358432C>T	uc003djz.1	+	c.1045C>T	c.(1045-1047)CGA>TGA	p.R349*	PXK_uc003djx.1_Nonsense_Mutation_p.R349*|PXK_uc003djy.1_Nonsense_Mutation_p.R332*|PXK_uc003dka.1_Nonsense_Mutation_p.R349*|PXK_uc003dkb.1_Nonsense_Mutation_p.R266*|PXK_uc003dkc.1_Nonsense_Mutation_p.R332*|PXK_uc010hnj.1_Nonsense_Mutation_p.R316*|PXK_uc003dkd.1_Nonsense_Mutation_p.R212*|PXK_uc010hnk.1_Nonsense_Mutation_p.R123*	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	349	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|protein phosphorylation|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)					p.R349*(RL952-Tumor)	508				0.434286	926.323993	928.947206	304	396	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	58358432	58358432	13307	3	C	T	T	19	19	PXK	T	5	1
EGF	1950	broad.mit.edu	36	4	111105059	111105059	+	Missense_Mutation	SNP	T	A	A			TCGA-12-3648-01	TCGA-12-3648-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:111105059T>A	uc003hzy.2	+	c.1492T>A	c.(1492-1494)TTT>ATT	p.F498I		NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor (beta-urogastrone)	498	LDL-receptor class B 5.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			central_nervous_system(1)	1		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)					724				0.473492	774.261533	774.596308	259	288	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	111105059	111105059	5151	4	T	A	A	64	64	EGF	A	4	4
HHIP	64399	broad.mit.edu	36	4	145854917	145854917	+	Missense_Mutation	SNP	T	G	G			TCGA-12-3648-01	TCGA-12-3648-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr4:145854917T>G	uc003ijs.1	+	c.1514T>G	c.(1513-1515)TTG>TGG	p.L505W		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein	505						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)										0.493151	121.477017	121.480298	36	37	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	145854917	145854917	7376	4	T	G	G	63	63	HHIP	G	4	4
DSPP	1834	broad.mit.edu	36	4	88756474	88756474	+	Silent	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:88756474C>T	uc003hqu.1	+	c.3636C>T	c.(3634-3636)GAC>GAT	p.D1212D		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	1212	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)										0.666667	6.851628	6.924723	2	1	CC		KEEP	---	---	---	---	capture			Silent	SNP	88756474	88756474	4966	4	C	T	T	17	17	DSPP	T	2	2
MMRN1	22915	broad.mit.edu	36	4	91093325	91093325	+	Silent	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:91093325G>A	uc003hst.1	+	c.3420G>A	c.(3418-3420)CCG>CCA	p.P1140P	MMRN1_uc010iku.1_Silent_p.P443P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	1140	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)										0.113402	12.55907	26.860613	11	86	GG		KEEP	---	---	---	---	capture			Silent	SNP	91093325	91093325	10061	4	G	A	A	40	40	MMRN1	A	1	1
DND1	373863	broad.mit.edu	36	5	140032515	140032515	+	Silent	SNP	G	T	T			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140032515G>T	uc003lgt.1	-	c.303C>A	c.(301-303)GCC>GCA	p.A101A		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	dead end homolog 1	101	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.333333	6.720588	6.9427	3	6	GG		KEEP	---	---	---	---	capture			Silent	SNP	140032515	140032515	4849	5	G	T	T	35	35	DND1	T	3	3
PCDHB3	56132	broad.mit.edu	36	5	140461747	140461747	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140461747G>A	uc003lio.1	+	c.1330G>A	c.(1330-1332)GTC>ATC	p.V444I		NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	444	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.459259	193.342232	193.536272	62	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140461747	140461747	11963	5	G	A	A	40	40	PCDHB3	A	1	1
PCDHB10	56126	broad.mit.edu	36	5	140554348	140554348	+	Missense_Mutation	SNP	A	C	C			TCGA-12-3648-01	TCGA-12-3648-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140554348A>C	uc003lix.1	+	c.2039A>C	c.(2038-2040)CAG>CCG	p.Q680P		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	680	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.375	8.224751	8.333784	3	5	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	140554348	140554348	11955	5	A	C	C	7	7	PCDHB10	C	4	4
DHX16	8449	broad.mit.edu	36	6	30748580	30748580	+	Silent	SNP	A	C	C			TCGA-12-3648-01	TCGA-12-3648-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:30748580A>C	uc003nqz.1	-	c.18T>G	c.(16-18)GGT>GGG	p.G6G		NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	6					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4														0.285714	6.782593	7.369104	4	10	AA		KEEP	---	---	---	---	capture			Silent	SNP	30748580	30748580	4681	6	A	C	C	10	10	DHX16	C	4	4
LAMB4	22798	broad.mit.edu	36	7	107475668	107475668	+	Missense_Mutation	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107475668G>A	uc010ljo.1	-	c.4247C>T	c.(4246-4248)ACG>ATG	p.T1416M	LAMB4_uc003vey.2_Missense_Mutation_p.T1416M|LAMB4_uc010ljp.1_Missense_Mutation_p.T385M	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1416	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.206573	90.192069	107.194738	44	169	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	107475668	107475668	8936	7	G	A	A	40	40	LAMB4	A	1	1
RAB19	401409	broad.mit.edu	36	7	139757286	139757286	+	Silent	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:139757286C>T	uc003vvr.1	+	c.246C>T	c.(244-246)CAC>CAT	p.H82H	RAB19_uc010lni.1_Intron	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	67					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0	Melanoma(164;0.0142)													0.301695	249.975047	260.327104	89	206	CC		KEEP	---	---	---	---	capture			Silent	SNP	139757286	139757286	13363	7	C	T	T	19	19	RAB19	T	1	1
GARS	2617	broad.mit.edu	36	7	30607243	30607243	+	Silent	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:30607243G>A	uc003tbm.1	+	c.471G>A	c.(469-471)TTG>TTA	p.L157L		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	157					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)									0.266667	152.590968	163.662459	60	165	GG		KEEP	---	---	---	---	capture			Silent	SNP	30607243	30607243	6506	7	G	A	A	45	45	GARS	A	2	2
TSNARE1	203062	broad.mit.edu	36	8	143308770	143308770	+	Silent	SNP	G	T	T			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:143308770G>T	uc003ywj.1	-	c.1527C>A	c.(1525-1527)GCC>GCA	p.A509A	TSNARE1_uc003ywk.1_Silent_p.A508A	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	508	Helical; (Potential).				vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)													0.344262	60.648769	61.959044	21	40	GG		KEEP	---	---	---	---	capture			Silent	SNP	143308770	143308770	17181	8	G	T	T	47	47	TSNARE1	T	3	3
CPNE3	8895	broad.mit.edu	36	8	87632446	87632446	+	Splice_Site_SNP	SNP	T	G	G			TCGA-12-3648-01	TCGA-12-3648-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:87632446T>G	uc003ydv.1	+	c.e14_splice_site			CPNE3_uc003ydw.1_Splice_Site_SNP	NM_003909	NP_003900			copine III						lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)	1														0.423077	11.894507	12.111453	11	15	TT		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	87632446	87632446	3951	8	T	G	G	57	57	CPNE3	G	5	4
DBH	1621	broad.mit.edu	36	9	135513299	135513299	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:135513299C>T	uc004cel.1	+	c.1763C>T	c.(1762-1764)ACA>ATA	p.T588I		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta-hydroxylase precursor	588	Intragranular (Potential).				hormone biosynthetic process|oxidation-reduction process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)									0.455696	104.5883	104.72338	36	43	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	135513299	135513299	4421	9	C	T	T	17	17	DBH	T	2	2
GPRASP1	9737	broad.mit.edu	36	X	101798609	101798609	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:101798609C>T	uc004ejj.2	+	c.3112C>T	c.(3112-3114)CCT>TCT	p.P1038S	GPRASP1_uc004eji.2_Missense_Mutation_p.P1038S|GPRASP1_uc010nod.1_Missense_Mutation_p.P1038S|GPRASP1_uc010noe.1_Missense_Mutation_p.P1038S	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1038	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2														0.362595	829.453027	842.513461	285	501	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	101798609	101798609	6998	23	C	T	T	30	30	GPRASP1	T	2	2
HTR2C	3358	broad.mit.edu	36	X	113988973	113988973	+	Silent	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:113988973G>A	uc004epu.1	+	c.501G>A	c.(499-501)TCG>TCA	p.S167S	HTR2C_uc010nqc.1_Silent_p.S167S|HTR2C_uc004epv.1_Intron	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	167	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|serotonin receptor signaling pathway|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)									0.426316	494.907486	496.702232	162	218	GG		KEEP	---	---	---	---	capture			Silent	SNP	113988973	113988973	7743	23	G	A	A	38	38	HTR2C	A	1	1
ZNF280C	55609	broad.mit.edu	36	X	129208566	129208566	+	Silent	SNP	G	A	A			TCGA-12-3648-01	TCGA-12-3648-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:129208566G>A	uc004evm.1	-	c.126C>T	c.(124-126)GAC>GAT	p.D42D	ZNF280C_uc010nrf.1_Silent_p.D42D	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3														0.415888	534.264431	536.908315	178	250	GG		KEEP	---	---	---	---	capture			Silent	SNP	129208566	129208566	18408	23	G	A	A	40	40	ZNF280C	A	1	1
HEPH	9843	broad.mit.edu	36	X	65396682	65396682	+	Missense_Mutation	SNP	C	T	T			TCGA-12-3648-01	TCGA-12-3648-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:65396682C>T	uc004dwn.1	+	c.3061C>T	c.(3061-3063)CGG>TGG	p.R1021W	HEPH_uc004dwm.1_Missense_Mutation_p.R1018W|HEPH_uc004dwo.1_Missense_Mutation_p.R751W|HEPH_uc010nkr.1_Missense_Mutation_p.R829W|HEPH_uc004dwp.1_Missense_Mutation_p.R1018W	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	1018	Extracellular (Potential).|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.429889	767.812074	770.131341	233	309	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65396682	65396682	7337	23	C	T	T	23	23	HEPH	T	1	1
SATL1	340562	broad.mit.edu	36	X	84249044	84249044	+	Silent	SNP	A	G	G			TCGA-12-3648-01	TCGA-12-3648-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:84249044A>G	uc004een.1	-	c.1026T>C	c.(1024-1026)TTT>TTC	p.F342F		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like	342	N-acetyltransferase.						N-acetyltransferase activity			breast(2)	2														0.458599	241.688089	241.92179	72	85	AA		KEEP	---	---	---	---	capture			Silent	SNP	84249044	84249044	14336	23	A	G	G	9	9	SATL1	G	4	4
DIS3	22894	broad.mit.edu	36	13	72235717	72235718	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-12-3648-01	TCGA-12-3648-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:72235717_72235718delAT	uc001vix.2	-	c.1999_2000delAT	c.(1999-2001)ATGfs	p.M667fs	DIS3_uc001viy.2_Frame_Shift_Del_p.M637fs|DIS3_uc001viz.2_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform b	667					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding				0		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)							Multiple Myeloma(4;0.011)			0.37			22	38				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	72235717	72235718	4714	13	AT	-	-	8	8	DIS3	-	5	5
ZNF428	126299	broad.mit.edu	36	19	48803814	48803815	+	Frame_Shift_Ins	INS	-	G	G			TCGA-12-3648-01	TCGA-12-3648-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48803814_48803815insG	uc002oxa.1	-	c.361_362insC	c.(361-363)CAGfs	p.Q121fs		NM_182498	NP_872304	Q96B54	ZN428_HUMAN	zinc finger protein 428	121	Glu-rich.					intracellular	zinc ion binding				0		Prostate(69;0.0153)												0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	48803814	48803815	18494	19	-	G	G	55	55	ZNF428	G	5	5
AURKC	6795	broad.mit.edu	36	19	62434435	62434436	+	Frame_Shift_Ins	INS	-	C	C			TCGA-12-3648-01	TCGA-12-3648-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:62434435_62434436insC	uc002qoe.1	+	c.7_8insC	c.(7-9)TCCfs	p.S3fs	AURKC_uc002qoc.1_Intron|AURKC_uc002qod.1_Intron|AURKC_uc010etv.1_Frame_Shift_Ins_p.S3fs	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	3					cell cycle|cytokinesis|protein phosphorylation	centrosome|nucleus	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)						92				0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Ins	INS	62434435	62434436	1245	19	-	C	C	54	54	AURKC	C	5	5
CFH	3075	broad.mit.edu	36	1	194983061	194983064	+	Frame_Shift_Del	DEL	AGAT	-	-			TCGA-12-3648-01	TCGA-12-3648-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:194983061_194983064delAGAT	uc001gtj.2	+	c.3691_3694delAGAT	c.(3691-3696)AGATAGfs	p.R1231fs		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	1231_1232					complement activation, alternative pathway	extracellular space				ovary(1)|breast(1)|skin(1)	3														0.38			23	38				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	194983061	194983064	3416	1	AGAT	-	-	3	3	CFH	-	5	5
