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	TCGAscape_Amplification_Peaks	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_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
ABCC2	1244	broad.mit.edu	37	10	101605389	101605389	+	Silent	SNP	G	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101605389G>C	uc001kqf.2	+	c.3996G>C	c.(3994-3996)GTG>GTC	p.V1332V		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	1332	Cytoplasmic (By similarity).|ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)							OREG0020434	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.42	64.864	65.143818	21	29	KEEP	---	---	---	---	capture		Silent	SNP	101605389	101605389	54	10	G	C	C	C	600	47	ABCC2	3	3
SORCS1	114815	broad.mit.edu	37	10	108716299	108716299	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108716299C>A	uc001kyl.2	-	c.598G>T	c.(598-600)GGG>TGG	p.G200W	SORCS1_uc001kym.2_Missense_Mutation_p.G200W|SORCS1_uc009xxs.2_Missense_Mutation_p.G200W|SORCS1_uc001kyn.1_Missense_Mutation_p.G200W|SORCS1_uc001kyo.2_Missense_Mutation_p.G200W	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	200	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.447059	116.737609	116.945422	38	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108716299	108716299	15430	10	C	A	A	A	286	22	SORCS1	2	2
C10orf81	79949	broad.mit.edu	37	10	115529654	115529654	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115529654G>A	uc001lat.1	+	c.529G>A	c.(529-531)GAC>AAC	p.D177N	C10orf81_uc001lar.1_Missense_Mutation_p.D183N|C10orf81_uc009xyc.1_Missense_Mutation_p.D95N|C10orf81_uc001las.1_Missense_Mutation_p.D95N|C10orf81_uc001lau.1_5'Flank	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN	hypothetical protein LOC79949	177										central_nervous_system(1)	1		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)										0.482759	218.133031	218.170906	70	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115529654	115529654	1656	10	G	A	A	A	429	33	C10orf81	2	2
FRG2B	441581	broad.mit.edu	37	10	135440217	135440217	+	Silent	SNP	G	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135440217G>C	uc010qvg.1	-	c.30C>G	c.(28-30)CTC>CTG	p.L10L		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	10						nucleus					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)										0.187192	94.352852	113.078078	38	165	KEEP	---	---	---	---	capture		Silent	SNP	135440217	135440217	6296	10	G	C	C	C	522	41	FRG2B	3	3
GAD2	2572	broad.mit.edu	37	10	26589865	26589865	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26589865T>C	uc001isp.2	+	c.1733T>C	c.(1732-1734)ATA>ACA	p.I578T	GAD2_uc001isq.2_Missense_Mutation_p.I578T	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	578					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)	1					L-Glutamic Acid(DB00142)									0.395062	338.464869	340.800711	96	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26589865	26589865	6431	10	T	C	C	C	637	49	GAD2	4	4
C10orf71	118461	broad.mit.edu	37	10	50532047	50532047	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50532047G>A	uc010qgp.1	+	c.1457G>A	c.(1456-1458)TGT>TAT	p.C486Y		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	486											0														0.40625	35.577714	35.820558	13	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50532047	50532047	1651	10	G	A	A	A	624	48	C10orf71	2	2
JMJD1C	221037	broad.mit.edu	37	10	64952803	64952803	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:64952803C>T	uc001jmn.2	-	c.5971G>A	c.(5971-5973)GAG>AAG	p.E1991K	JMJD1C_uc001jml.2_Missense_Mutation_p.E1754K|JMJD1C_uc001jmm.2_Missense_Mutation_p.E1703K|JMJD1C_uc010qiq.1_Missense_Mutation_p.E1809K|JMJD1C_uc009xpi.2_Missense_Mutation_p.E1809K|JMJD1C_uc009xpj.1_Non-coding_Transcript|JMJD1C_uc001jmo.2_5'Flank|JMJD1C_uc009xpk.1_Missense_Mutation_p.E889K	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1991					blood coagulation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)	5	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.507772	298.836345	298.846398	98	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64952803	64952803	8254	10	C	T	T	T	416	32	JMJD1C	2	2
TRPC6	7225	broad.mit.edu	37	11	101353775	101353775	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:101353775G>A	uc001pgk.3	-	c.1415C>T	c.(1414-1416)CCT>CTT	p.P472L	TRPC6_uc009ywy.2_Missense_Mutation_p.P356L|TRPC6_uc009ywz.1_Missense_Mutation_p.P417L	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	472	Extracellular (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		Colon(166;1315 1927 11094 12848 34731)								0.45	175.734832	175.996254	54	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101353775	101353775	17134	11	G	A	A	A	455	35	TRPC6	2	2
ABCG4	64137	broad.mit.edu	37	11	119025058	119025058	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119025058G>T	uc001pvs.2	+	c.445G>T	c.(445-447)GAT>TAT	p.D149Y	ABCG4_uc009zar.2_Missense_Mutation_p.D149Y	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	149	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)										0.423529	103.48242	103.91681	36	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119025058	119025058	71	11	G	T	T	T	429	33	ABCG4	2	2
OR8B2	26595	broad.mit.edu	37	11	124252875	124252875	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124252875C>A	uc010sai.1	-	c.365G>T	c.(364-366)CGC>CTC	p.R122L		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)										0.554054	128.277371	128.465307	41	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124252875	124252875	11638	11	C	A	A	A	351	27	OR8B2	1	1
OR8B3	390271	broad.mit.edu	37	11	124266883	124266883	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124266883C>A	uc010saj.1	-	c.365G>T	c.(364-366)CGC>CTC	p.R122L	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)										0.166667	18.141611	23.829931	9	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124266883	124266883	11639	11	C	A	A	A	351	27	OR8B3	1	1
SLC6A5	9152	broad.mit.edu	37	11	20628684	20628684	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20628684G>C	uc001mqd.2	+	c.811G>C	c.(811-813)GGC>CGC	p.G271R	SLC6A5_uc009yic.2_Missense_Mutation_p.G36R	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	271	Helical; Name=3; (Potential).				synaptic transmission	integral to plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)	3					Glycine(DB00145)									0.875	18.24032	19.254184	7	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20628684	20628684	15184	11	G	C	C	C	455	35	SLC6A5	3	3
LIN7C	55327	broad.mit.edu	37	11	27521053	27521053	+	Silent	SNP	T	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:27521053T>C	uc001mrl.2	-	c.291A>G	c.(289-291)CCA>CCG	p.P97P	LIN7C_uc009yii.2_Silent_p.P73P	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C	97	PDZ.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0														0.966667	310.663122	315.201611	87	3	KEEP	---	---	---	---	capture		Silent	SNP	27521053	27521053	9139	11	T	C	C	C	808	63	LIN7C	4	4
C11orf41	25758	broad.mit.edu	37	11	33667500	33667501	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33667500_33667501GG>AC	uc001mup.3	+	c.4805_4806GG>AC	c.(4804-4806)GGG>GAC	p.G1602D		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1596						integral to membrane				ovary(2)	2														1	28.317444	28.313535	8	0	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	33667500	33667501	1679	11	GG	AC	AC	AC	559	43	C11orf41	2	2
OR4P4	81300	broad.mit.edu	37	11	55406549	55406549	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55406549G>A	uc010rij.1	+	c.716G>A	c.(715-717)AGT>AAT	p.S239N		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.463964	330.738256	330.994804	103	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55406549	55406549	11490	11	G	A	A	A	468	36	OR4P4	2	2
SLC22A9	114571	broad.mit.edu	37	11	63143161	63143161	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:63143161C>A	uc001nww.2	+	c.875C>A	c.(874-876)CCA>CAA	p.P292Q	SLC22A9_uc001nwx.2_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion/cation	292	Cytoplasmic (Potential).				transmembrane transport	integral to membrane				breast(2)|large_intestine(1)	3														0.505376	292.302665	292.306818	94	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63143161	63143161	14958	11	C	A	A	A	273	21	SLC22A9	2	2
OR2D3	120775	broad.mit.edu	37	11	6942268	6942268	+	Silent	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6942268G>A	uc010rav.1	+	c.36G>A	c.(34-36)CAG>CAA	p.Q12Q		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.984127	239.383873	241.631789	62	1	KEEP	---	---	---	---	capture		Silent	SNP	6942268	6942268	11401	11	G	A	A	A	451	35	OR2D3	2	2
DLG2	1740	broad.mit.edu	37	11	83691638	83691638	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:83691638C>A	uc001pak.2	-	c.967G>T	c.(967-969)GGA>TGA	p.G323*	DLG2_uc001pai.2_Nonsense_Mutation_p.G167*|DLG2_uc010rsy.1_Nonsense_Mutation_p.G185*|DLG2_uc001paj.2_Nonsense_Mutation_p.G218*|DLG2_uc010rsz.1_Nonsense_Mutation_p.G218*|DLG2_uc010rta.1_Nonsense_Mutation_p.G218*|DLG2_uc010rtb.1_Nonsense_Mutation_p.G185*|DLG2_uc001pal.1_Nonsense_Mutation_p.G218*|DLG2_uc001pam.1_Nonsense_Mutation_p.G257*	NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	218	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)	5		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)												0.495798	374.755474	374.758928	118	120	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	83691638	83691638	4735	11	C	A	A	A	273	21	DLG2	5	2
TRIM49	57093	broad.mit.edu	37	11	89537547	89537547	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89537547C>G	uc001pdb.2	-	c.91G>C	c.(91-93)GGG>CGG	p.G31R		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	ring finger protein 18	31	RING-type.					intracellular	zinc ion binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)												0.292308	53.637081	56.126752	19	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89537547	89537547	17069	11	C	G	G	G	273	21	TRIM49	3	3
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Missense_Mutation	SNP	C	T	T	rs118093172	by1000genomes	TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:106820975C>T	uc001tlp.2	+	c.1102C>T	c.(1102-1104)CTT>TTT	p.L368F	POLR3B_uc001tlq.2_Missense_Mutation_p.L310F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2														0.214286	7.38612	9.486065	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106820975	106820975	12657	12	C	T	T	T	364	28	POLR3B	2	2
GIT2	9815	broad.mit.edu	37	12	110370790	110370790	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:110370790T>A	uc001tps.2	-	c.2273A>T	c.(2272-2274)AAC>ATC	p.N758I	TCHP_uc001tpo.1_Non-coding_Transcript|GIT2_uc001tpr.2_3'UTR|GIT2_uc001tpq.2_Missense_Mutation_p.N728I|GIT2_uc001tpv.2_Missense_Mutation_p.N680I|GIT2_uc001tpu.2_Missense_Mutation_p.N678I|GIT2_uc001tpt.2_Missense_Mutation_p.N630I|GIT2_uc010sxu.1_Missense_Mutation_p.N666I	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	758					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1														0.386667	82.15796	83.001883	29	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110370790	110370790	6665	12	T	A	A	A	780	60	GIT2	3	3
ATXN2	6311	broad.mit.edu	37	12	111907921	111907921	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111907921C>T	uc001tsj.2	-	c.3307G>A	c.(3307-3309)GCG>ACG	p.A1103T	ATXN2_uc001tsh.2_Missense_Mutation_p.A838T|ATXN2_uc001tsi.2_Missense_Mutation_p.A814T|ATXN2_uc001tsk.2_Non-coding_Transcript|ATXN2_uc001tsg.2_Missense_Mutation_p.A291T|ATXN2_uc001tsl.1_Missense_Mutation_p.A122T	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1103					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2														0.47651	201.074398	201.14023	71	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111907921	111907921	1231	12	C	T	T	T	325	25	ATXN2	2	2
CCDC60	160777	broad.mit.edu	37	12	119909874	119909874	+	Silent	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:119909874G>A	uc001txe.2	+	c.246G>A	c.(244-246)AAG>AAA	p.K82K		NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	82	Potential.									ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)										0.572864	366.819246	367.737988	114	85	KEEP	---	---	---	---	capture		Silent	SNP	119909874	119909874	2954	12	G	A	A	A	438	34	CCDC60	2	2
PTPRO	5800	broad.mit.edu	37	12	15731818	15731818	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:15731818A>T	uc001rcv.1	+	c.2861A>T	c.(2860-2862)CAC>CTC	p.H954L	PTPRO_uc001rcw.1_Missense_Mutation_p.H926L|PTPRO_uc001rcx.1_Missense_Mutation_p.H143L|PTPRO_uc001rcy.1_Missense_Mutation_p.H143L|PTPRO_uc001rcz.1_Missense_Mutation_p.H115L|PTPRO_uc001rda.1_Missense_Mutation_p.H115L	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	954	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Hepatocellular(102;0.244)												0.414634	104.743623	105.262527	34	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15731818	15731818	13266	12	A	T	T	T	78	6	PTPRO	3	3
PRPH	5630	broad.mit.edu	37	12	49690770	49690770	+	Silent	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49690770C>T	uc001rtu.2	+	c.801C>T	c.(799-801)GAC>GAT	p.D267D		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	267	Coil 2.|Rod.						structural molecule activity				0												OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.545455	16.549925	16.569724	6	5	KEEP	---	---	---	---	capture		Silent	SNP	49690770	49690770	13019	12	C	T	T	T	220	17	PRPH	2	2
NCKAP1L	3071	broad.mit.edu	37	12	54902294	54902294	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54902294A>G	uc001sgc.3	+	c.485A>G	c.(484-486)CAT>CGT	p.H162R	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.H112R	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	162					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4														0.495822	580.661671	580.667501	178	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54902294	54902294	10621	12	A	G	G	G	104	8	NCKAP1L	4	4
PTPRB	5787	broad.mit.edu	37	12	70974895	70974895	+	Silent	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70974895G>T	uc001swc.3	-	c.2499C>A	c.(2497-2499)TCC>TCA	p.S833S	PTPRB_uc001swb.3_Silent_p.S615S|PTPRB_uc010sto.1_Silent_p.S615S|PTPRB_uc010stp.1_Silent_p.S525S|PTPRB_uc001swa.3_Silent_p.S833S|PTPRB_uc001swd.3_Silent_p.S832S|PTPRB_uc009zrr.1_Silent_p.S712S	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	615	Fibronectin type-III 7.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)											0.471264	121.87407	121.934838	41	46	KEEP	---	---	---	---	capture		Silent	SNP	70974895	70974895	13253	12	G	T	T	T	496	39	PTPRB	1	1
PEX5	5830	broad.mit.edu	37	12	7361712	7361712	+	Silent	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7361712G>A	uc010sgd.1	+	c.1569G>A	c.(1567-1569)GGG>GGA	p.G523G	PEX5_uc009zfu.1_Silent_p.G502G|PEX5_uc001qsw.2_Silent_p.G502G|PEX5_uc010sgc.1_Silent_p.G517G|PEX5_uc001qsu.2_Silent_p.G465G|PEX5_uc001qsv.2_Silent_p.G494G	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	502	TPR 5.				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			ovary(1)	1														0.5625	179.362877	179.690809	54	42	KEEP	---	---	---	---	capture		Silent	SNP	7361712	7361712	12170	12	G	A	A	A	548	43	PEX5	2	2
CD163L1	283316	broad.mit.edu	37	12	7548949	7548949	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7548949C>A	uc010sge.1	-	c.1822G>T	c.(1822-1824)GTG>TTG	p.V608L	CD163L1_uc001qsy.2_Missense_Mutation_p.V598L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	598	SRCR 6.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|central_nervous_system(1)	9														0.419355	73.133627	73.486451	26	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7548949	7548949	3095	12	C	A	A	A	234	18	CD163L1	2	2
PCDH8	5100	broad.mit.edu	37	13	53418775	53418775	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53418775G>A	uc001vhi.2	-	c.3133C>T	c.(3133-3135)CAG>TAG	p.Q1045*	PCDH8_uc001vhj.2_Nonsense_Mutation_p.Q948*	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	1045	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GBM(36;25 841 9273 49207)								1	76.64579	76.64579	23	0	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	53418775	53418775	11937	13	G	A	A	A	598	46	PCDH8	5	2
PCDH8	5100	broad.mit.edu	37	13	53420598	53420598	+	Silent	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53420598C>A	uc001vhi.2	-	c.1974G>T	c.(1972-1974)CCG>CCT	p.P658P	PCDH8_uc001vhj.2_Silent_p.P658P	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	658	Extracellular (Potential).|Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GBM(36;25 841 9273 49207)								1	7.676831	7.453586	2	0	KEEP	---	---	---	---	capture		Silent	SNP	53420598	53420598	11937	13	C	A	A	A	340	27	PCDH8	1	1
PCDH9	5101	broad.mit.edu	37	13	67802394	67802394	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:67802394G>A	uc001vik.2	-	c.179C>T	c.(178-180)GCC>GTC	p.A60V	PCDH9_uc001vil.2_Missense_Mutation_p.A60V|PCDH9_uc010thl.1_Missense_Mutation_p.A60V|PCDH9_uc001vin.3_Missense_Mutation_p.A60V	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	60	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)										1	61.976162	61.976158	18	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67802394	67802394	11938	13	G	A	A	A	546	42	PCDH9	2	2
PIBF1	10464	broad.mit.edu	37	13	73401179	73401179	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:73401179G>A	uc001vjc.2	+	c.838G>A	c.(838-840)GAG>AAG	p.E280K	PIBF1_uc001vja.1_Missense_Mutation_p.E280K|PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.2_Missense_Mutation_p.E280K|PIBF1_uc010aep.2_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	280										ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)										0.943662	223.723956	233.651788	67	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73401179	73401179	12303	13	G	A	A	A	585	45	PIBF1	2	2
PIBF1	10464	broad.mit.edu	37	13	73539483	73539483	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:73539483G>C	uc001vjc.2	+	c.1905G>C	c.(1903-1905)CAG>CAC	p.Q635H	PIBF1_uc001vjb.2_Missense_Mutation_p.Q635H|PIBF1_uc010aep.2_Missense_Mutation_p.Q94H	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	635										ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)										1	111.903224	111.903224	26	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73539483	73539483	12303	13	G	C	C	C	425	33	PIBF1	3	3
ZNF839	55778	broad.mit.edu	37	14	102798180	102798180	+	Silent	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102798180G>A	uc010awk.1	+	c.1413G>A	c.(1411-1413)AAG>AAA	p.K471K	ZNF839_uc001ylo.2_Silent_p.K355K|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Silent_p.K355K|ZNF839_uc001ylr.2_Intron|ZNF839_uc001yls.2_5'UTR	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	zinc finger protein 839	355						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.307692	11.494939	11.923619	4	9	KEEP	---	---	---	---	capture		Silent	SNP	102798180	102798180	18788	14	G	A	A	A	451	35	ZNF839	2	2
DHRS2	10202	broad.mit.edu	37	14	24108203	24108203	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24108203T>G	uc001wkt.3	+	c.130T>G	c.(130-132)TCC>GCC	p.S44A	DHRS2_uc010aku.1_Missense_Mutation_p.S44A|DHRS2_uc001wku.3_Missense_Mutation_p.S44A|DHRS2_uc010akv.2_Non-coding_Transcript|DHRS2_uc001wkv.3_Missense_Mutation_p.S44A	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	dehydrogenase/reductase member 2 isoform 1	22	NAD or NADP (By similarity).				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|oxidation-reduction process|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00659)										0.285714	62.215996	65.717244	24	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24108203	24108203	4669	14	T	G	G	G	754	58	DHRS2	4	4
SERPINA3	12	broad.mit.edu	37	14	95090116	95090116	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95090116T>C	uc001ydo.3	+	c.1312T>C	c.(1312-1314)TTC>CTC	p.F438L	SERPINA3_uc001ydr.2_Non-coding_Transcript|SERPINA3_uc001ydq.2_Missense_Mutation_p.F413L|SERPINA3_uc001ydp.2_Missense_Mutation_p.F413L|SERPINA3_uc001yds.2_Missense_Mutation_p.F413L|SERPINA3_uc010avg.2_Missense_Mutation_p.F413L	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	413					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)	5		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)										0.361809	234.211245	237.56919	72	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95090116	95090116	14578	14	T	C	C	C	728	56	SERPINA3	4	4
MKRN3	7681	broad.mit.edu	37	15	23811246	23811246	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23811246A>T	uc001ywh.3	+	c.317A>T	c.(316-318)CAT>CTT	p.H106L	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.H106L	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	106	C3H1-type 1.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(2)	4		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)						79				0.537037	98.877481	98.941812	29	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23811246	23811246	9998	15	A	T	T	T	104	8	MKRN3	3	3
TLN2	83660	broad.mit.edu	37	15	63031648	63031648	+	Silent	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:63031648G>T	uc002alb.3	+	c.3789G>T	c.(3787-3789)CGG>CGT	p.R1263R	TLN2_uc002alc.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1263					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cell-cell junction|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(4)|breast(2)	6														0.428571	113.21672	113.619829	39	52	KEEP	---	---	---	---	capture		Silent	SNP	63031648	63031648	16478	15	G	T	T	T	548	43	TLN2	2	2
C15orf26	161502	broad.mit.edu	37	15	81429058	81429058	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81429058C>G	uc002bgb.2	+	c.361C>G	c.(361-363)CCA>GCA	p.P121A	C15orf26_uc010blp.1_Missense_Mutation_p.P96A	NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	121											0														0.484375	103.822472	103.836079	31	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81429058	81429058	1837	15	C	G	G	G	286	22	C15orf26	3	3
KIF7	374654	broad.mit.edu	37	15	90188567	90188567	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90188567C>A	uc002bof.2	-	c.2038G>T	c.(2038-2040)GCA>TCA	p.A680S	KIF7_uc010upw.1_Missense_Mutation_p.V167F	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	680					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(1)	1	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)											0.563636	98.432329	98.62695	31	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90188567	90188567	8620	15	C	A	A	A	312	24	KIF7	2	2
WDR93	56964	broad.mit.edu	37	15	90276380	90276380	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90276380A>T	uc002boj.2	+	c.1474A>T	c.(1474-1476)ACA>TCA	p.T492S	WDR93_uc010bnr.2_Missense_Mutation_p.T464S|WDR93_uc010upz.1_Missense_Mutation_p.T209S	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	492					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)											0.441379	202.07728	202.510598	64	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90276380	90276380	17914	15	A	T	T	T	78	6	WDR93	3	3
TTLL13	440307	broad.mit.edu	37	15	90799470	90799470	+	Silent	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90799470C>A	uc002bpd.1	+	c.646C>A	c.(646-648)CGA>AGA	p.R216R	TTLL13_uc002bpe.1_Intron	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	216	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)											0.483333	94.698615	94.711441	29	31	KEEP	---	---	---	---	capture		Silent	SNP	90799470	90799470	17281	15	C	A	A	A	295	23	TTLL13	1	1
GP2	2813	broad.mit.edu	37	16	20337710	20337710	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20337710C>A	uc002dgv.2	-	c.44G>T	c.(43-45)TGG>TTG	p.W15L	GP2_uc002dgw.2_Missense_Mutation_p.W15L|GP2_uc002dgx.2_Missense_Mutation_p.W15L|GP2_uc002dgy.2_Missense_Mutation_p.W15L	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	15						anchored to membrane|extracellular region|plasma membrane				ovary(3)	3														0.391304	81.015909	81.727047	27	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20337710	20337710	6856	16	C	A	A	A	273	21	GP2	2	2
DNAH3	55567	broad.mit.edu	37	16	21136530	21136530	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21136530A>G	uc010vbe.1	-	c.1370T>C	c.(1369-1371)CTT>CCT	p.L457P	DNAH3_uc002die.2_Missense_Mutation_p.L428P	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	457	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14				GBM - Glioblastoma multiforme(48;0.207)										0.468085	158.003823	158.085814	44	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21136530	21136530	4786	16	A	G	G	G	39	3	DNAH3	4	4
SETD1A	9739	broad.mit.edu	37	16	30977308	30977308	+	Silent	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30977308C>T	uc002ead.1	+	c.2106C>T	c.(2104-2106)GCC>GCT	p.A702A		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)	2														0.487805	63.997433	64.002483	20	21	KEEP	---	---	---	---	capture		Silent	SNP	30977308	30977308	14618	16	C	T	T	T	301	24	SETD1A	2	2
CBLN1	869	broad.mit.edu	37	16	49315227	49315227	+	Silent	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:49315227G>A	uc002efq.2	-	c.150C>T	c.(148-150)GCC>GCT	p.A50A		NM_004352	NP_004343	P23435	CBLN1_HUMAN	cerebellin 1 precursor	50					nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)												0.210526	9.846093	11.277915	4	15	KEEP	---	---	---	---	capture		Silent	SNP	49315227	49315227	2823	16	G	A	A	A	548	43	CBLN1	2	2
GPR56	9289	broad.mit.edu	37	16	57697403	57697403	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57697403A>G	uc002emb.2	+	c.1991A>G	c.(1990-1992)CAG>CGG	p.Q664R	GPR56_uc002ema.1_Missense_Mutation_p.Q489R|GPR56_uc002emc.2_Missense_Mutation_p.Q658R|GPR56_uc002emf.2_Missense_Mutation_p.Q658R|GPR56_uc010vhs.1_Missense_Mutation_p.Q664R|GPR56_uc002emd.2_Missense_Mutation_p.Q658R|GPR56_uc002eme.2_Missense_Mutation_p.Q658R|GPR56_uc010vht.1_Missense_Mutation_p.Q663R|GPR56_uc002emg.3_Missense_Mutation_p.Q658R|GPR56_uc010vhu.1_Missense_Mutation_p.Q483R	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	664	Cytoplasmic (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0														0.125	3.217676	6.525367	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57697403	57697403	6975	16	A	G	G	G	91	7	GPR56	4	4
GRB7	2886	broad.mit.edu	37	17	37900365	37900365	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37900365C>G	uc002hsr.2	+	c.706C>G	c.(706-708)CTG>GTG	p.L236V	GRB7_uc002hss.2_Missense_Mutation_p.L236V|GRB7_uc010cwc.2_Missense_Mutation_p.L236V|GRB7_uc002hst.2_Missense_Mutation_p.L236V	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	236	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration	cytosol	SH3/SH2 adaptor activity			lung(2)|ovary(1)	3	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)							187				0.984127	249.993249	252.041612	62	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37900365	37900365	7036	17	C	G	G	G	415	32	GRB7	3	3
PLD2	5338	broad.mit.edu	37	17	4713045	4713045	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4713045G>T	uc002fzc.2	+	c.674G>T	c.(673-675)GGC>GTC	p.G225V	PLD2_uc010vsj.1_Missense_Mutation_p.G82V|PLD2_uc002fzd.2_Missense_Mutation_p.G225V	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	225	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)									0.921875	202.282824	210.32774	59	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4713045	4713045	12472	17	G	T	T	T	546	42	PLD2	2	2
MPO	4353	broad.mit.edu	37	17	56350206	56350206	+	Silent	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56350206C>T	uc002ivu.1	-	c.1695G>A	c.(1693-1695)GTG>GTA	p.V565V		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	565					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling|oxidation-reduction process	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)									0.960526	269.076168	275.823267	73	3	KEEP	---	---	---	---	capture		Silent	SNP	56350206	56350206	10124	17	C	T	T	T	262	21	MPO	2	2
CA4	762	broad.mit.edu	37	17	58234824	58234824	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:58234824G>A	uc002iym.3	+	c.305G>A	c.(304-306)GGA>GAA	p.G102E	CA4_uc010wou.1_Intron	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	102					bicarbonate transport|one-carbon metabolic process|visual perception	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)									1	253.60841	253.60841	71	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58234824	58234824	2634	17	G	A	A	A	533	41	CA4	2	2
NEURL4	84461	broad.mit.edu	37	17	7219585	7219585	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7219585G>A	uc002gga.1	-	c.4546C>T	c.(4546-4548)CGC>TGC	p.R1516C	GPS2_uc002gfv.1_5'Flank|GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_Intron|GPS2_uc002gfz.1_Intron|NEURL4_uc002ggb.1_Missense_Mutation_p.R1514C	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	1516							protein binding			ovary(1)	1														0.136364	4.381605	7.139136	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7219585	7219585	10747	17	G	A	A	A	494	38	NEURL4	1	1
TP53	7157	broad.mit.edu	37	17	7579494	7579494	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7579494T>A	uc002gim.2	-	c.193A>T	c.(193-195)AGA>TGA	p.R65*	TP53_uc002gig.1_Nonsense_Mutation_p.R65*|TP53_uc002gih.2_Nonsense_Mutation_p.R65*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.R65*|TP53_uc010cni.1_Nonsense_Mutation_p.R65*|TP53_uc002gij.2_Nonsense_Mutation_p.R65*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.R26*|TP53_uc010cnk.1_Nonsense_Mutation_p.R80*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	65	Interaction with HRMT1L2.		R -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R65*(8)|p.0?(6)|p.G59fs*23(3)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111		690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.972325	1875.061048	1904.465672	527	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7579494	7579494	16923	17	T	A	A	A	713	55	TP53	5	3
GAS7	8522	broad.mit.edu	37	17	9821344	9821344	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9821344G>A	uc002gmg.1	-	c.1291C>T	c.(1291-1293)CAT>TAT	p.H431Y	GAS7_uc010vvc.1_Missense_Mutation_p.H245Y|GAS7_uc002gmh.1_Missense_Mutation_p.H291Y|GAS7_uc010vvd.1_Missense_Mutation_p.H383Y|GAS7_uc002gmi.2_Missense_Mutation_p.H367Y|GAS7_uc002gmj.1_Missense_Mutation_p.H371Y|GAS7_uc010coh.1_Missense_Mutation_p.H371Y	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	431					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			pancreas(1)	1										523				0.95122	122.880465	127.269214	39	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9821344	9821344	6514	17	G	A	A	A	598	46	GAS7	2	2
ACAA2	10449	broad.mit.edu	37	18	47322161	47322161	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:47322161C>A	uc002ldw.3	-	c.403G>T	c.(403-405)GGA>TGA	p.G135*	ACAA2_uc002ldx.3_Nonsense_Mutation_p.G132*	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	135					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1														0.05814	-8.198174	9.428486	5	81	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	47322161	47322161	106	18	C	A	A	A	273	21	ACAA2	5	2
DCC	1630	broad.mit.edu	37	18	50734081	50734081	+	Silent	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:50734081G>T	uc002lfe.1	+	c.1755G>T	c.(1753-1755)CTG>CTT	p.L585L	DCC_uc010xdr.1_Silent_p.L433L|DCC_uc010dpf.1_Silent_p.L240L	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	585	Extracellular (Potential).|Fibronectin type-III 2.				apoptosis|induction of apoptosis	cytosol|integral to membrane				ovary(6)|large_intestine(1)|central_nervous_system(1)|skin(1)	9		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)										0.47451	376.855097	376.99908	121	134	KEEP	---	---	---	---	capture		Silent	SNP	50734081	50734081	4453	18	G	T	T	T	600	47	DCC	2	2
ALPK2	115701	broad.mit.edu	37	18	56203480	56203480	+	Silent	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56203480G>A	uc002lhj.3	-	c.3939C>T	c.(3937-3939)AGC>AGT	p.S1313S	ALPK2_uc002lhk.1_Silent_p.S644S	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1313					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11										343				0.324138	123.261567	127.249009	47	98	KEEP	---	---	---	---	capture		Silent	SNP	56203480	56203480	548	18	G	A	A	A	542	42	ALPK2	2	2
ENOSF1	55556	broad.mit.edu	37	18	683371	683371	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:683371C>A	uc010dkf.2	-	c.814G>T	c.(814-816)GCC>TCC	p.A272S	ENOSF1_uc002kkt.3_Missense_Mutation_p.A169S|ENOSF1_uc010dke.2_Non-coding_Transcript|ENOSF1_uc002kku.3_Missense_Mutation_p.A251S|ENOSF1_uc002kkv.3_Missense_Mutation_p.A238S|ENOSF1_uc002kkw.3_Missense_Mutation_p.A70S|ENOSF1_uc002kkx.3_Missense_Mutation_p.A175S	NM_202758	NP_974487	Q7L5Y1	ENOF1_HUMAN	rTS beta protein isoform rTS gamma	251					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1														0.470588	120.302615	120.365398	40	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	683371	683371	5318	18	C	A	A	A	325	25	ENOSF1	2	2
FBXO15	201456	broad.mit.edu	37	18	71740732	71740732	+	Silent	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:71740732G>A	uc002llf.2	-	c.1497C>T	c.(1495-1497)ATC>ATT	p.I499I	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Silent_p.I423I	NM_001142958	NP_001136430	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 2	423										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)										0.49506	1422.396842	1422.415819	451	460	KEEP	---	---	---	---	capture		Silent	SNP	71740732	71740732	5965	18	G	A	A	A	473	37	FBXO15	1	1
CTDP1	9150	broad.mit.edu	37	18	77473137	77473137	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:77473137A>T	uc002lnh.1	+	c.1029A>T	c.(1027-1029)AAA>AAT	p.K343N	CTDP1_uc002lni.1_Missense_Mutation_p.K343N|CTDP1_uc010drd.1_Missense_Mutation_p.K343N	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	343	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)										0.515152	55.075804	55.082392	17	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77473137	77473137	4161	18	A	T	T	T	37	3	CTDP1	3	3
ZNF44	51710	broad.mit.edu	37	19	12383596	12383596	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12383596A>C	uc010xmj.1	-	c.1618T>G	c.(1618-1620)TGT>GGT	p.C540G	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_Non-coding_Transcript|ZNF44_uc002mtn.3_Non-coding_Transcript|ZNF44_uc010dys.2_Missense_Mutation_p.C492G	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	540	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)										0.566038	107.040292	107.239732	30	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12383596	12383596	18505	19	A	C	C	C	65	5	ZNF44	4	4
CPAMD8	27151	broad.mit.edu	37	19	17091488	17091488	+	Silent	SNP	T	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17091488T>C	uc002nfb.2	-	c.1545A>G	c.(1543-1545)GAA>GAG	p.E515E		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	468						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)	12										1067				0.40625	42.469372	42.714999	13	19	KEEP	---	---	---	---	capture		Silent	SNP	17091488	17091488	3933	19	T	C	C	C	725	56	CPAMD8	4	4
LRRC25	126364	broad.mit.edu	37	19	18507421	18507421	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:18507421C>T	uc002niw.2	-	c.353G>A	c.(352-354)TGT>TAT	p.C118Y	LRRC25_uc002nix.2_Missense_Mutation_p.C118Y	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25 precursor	118	Extracellular (Potential).					integral to membrane					0														0.7	40.148069	40.860365	14	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18507421	18507421	9354	19	C	T	T	T	221	17	LRRC25	2	2
ZNF85	7639	broad.mit.edu	37	19	21132503	21132503	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21132503G>A	uc002npg.3	+	c.1183G>A	c.(1183-1185)GAG>AAG	p.E395K	ZNF85_uc010ecn.2_Missense_Mutation_p.E330K|ZNF85_uc010eco.2_Missense_Mutation_p.E343K|ZNF85_uc002npi.2_Missense_Mutation_p.E336K	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	395					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1														0.5	42.074596	42.074596	13	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21132503	21132503	18795	19	G	A	A	A	429	33	ZNF85	2	2
SPTBN4	57731	broad.mit.edu	37	19	41009825	41009825	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41009825G>T	uc002ony.2	+	c.1451G>T	c.(1450-1452)CGG>CTG	p.R484L	SPTBN4_uc002onx.2_Missense_Mutation_p.R484L|SPTBN4_uc002onz.2_Missense_Mutation_p.R484L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	484	Spectrin 3.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)	4			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)											0.529412	27.86516	27.877382	9	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41009825	41009825	15635	19	G	T	T	T	507	39	SPTBN4	1	1
LYPD5	284348	broad.mit.edu	37	19	44302658	44302658	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44302658A>T	uc002oxm.3	-	c.466T>A	c.(466-468)TGT>AGT	p.C156S	LYPD5_uc002oxn.3_Missense_Mutation_p.C113S	NM_001031749	NP_001026919	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5 isoform A	156	UPAR/Ly6.					anchored to membrane|plasma membrane					0		Prostate(69;0.0352)												0.48913	138.885259	138.89398	45	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44302658	44302658	9490	19	A	T	T	T	78	6	LYPD5	3	3
ZNF543	125919	broad.mit.edu	37	19	57839445	57839445	+	Silent	SNP	G	C	C	rs71972752		TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57839445G>C	uc002qoi.1	+	c.615G>C	c.(613-615)GGG>GGC	p.G205G		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	205	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)										0.505882	157.226511	157.229063	43	42	KEEP	---	---	---	---	capture		Silent	SNP	57839445	57839445	18571	19	G	C	C	C	522	41	ZNF543	3	3
ZNF324B	388569	broad.mit.edu	37	19	58967159	58967159	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58967159G>T	uc002qsv.1	+	c.848G>T	c.(847-849)CGG>CTG	p.R283L	ZNF324B_uc002qsu.1_Missense_Mutation_p.R273L|ZNF324B_uc010euq.1_Missense_Mutation_p.R283L	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)										0.451613	43.949533	44.012171	14	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58967159	58967159	18437	19	G	T	T	T	507	39	ZNF324B	1	1
FBN3	84467	broad.mit.edu	37	19	8159411	8159411	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8159411G>T	uc002mjf.2	-	c.5824C>A	c.(5824-5826)CCC>ACC	p.P1942T		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1942	EGF-like 31; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.425	52.568632	52.76484	17	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8159411	8159411	5940	19	G	T	T	T	572	44	FBN3	2	2
MUC16	94025	broad.mit.edu	37	19	9007836	9007836	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9007836G>T	uc002mkp.2	-	c.39388C>A	c.(39388-39390)CAT>AAT	p.H13130N	MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13132	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.391304	211.141141	213.049397	72	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9007836	9007836	10367	19	G	T	T	T	611	47	MUC16	2	2
KIF1B	23095	broad.mit.edu	37	1	10435101	10435101	+	Silent	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10435101G>A	uc001aqz.2	+	c.5286G>A	c.(5284-5286)GTG>GTA	p.V1762V	KIF1B_uc001aqw.3_Silent_p.V1716V|KIF1B_uc001aqx.3_Silent_p.V1762V|KIF1B_uc001aqy.2_Silent_p.V1736V|KIF1B_uc001ara.2_Silent_p.V1722V|KIF1B_uc001arb.2_Silent_p.V1748V	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	1762	PH.				anterograde axon cargo transport|apoptosis|nerve-nerve synaptic transmission|neuromuscular synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)	2	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)										0.636364	159.392537	160.651496	49	28	KEEP	---	---	---	---	capture		Silent	SNP	10435101	10435101	8595	1	G	A	A	A	574	45	KIF1B	2	2
PTGFRN	5738	broad.mit.edu	37	1	117509848	117509848	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117509848T>G	uc001egv.1	+	c.1955T>G	c.(1954-1956)CTG>CGG	p.L652R		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	652	Ig-like C2-type 5.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)										0.502703	280.886322	280.887807	93	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117509848	117509848	13205	1	T	G	G	G	715	55	PTGFRN	4	4
GBA	2629	broad.mit.edu	37	1	155206036	155206036	+	Silent	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155206036C>T	uc001fjh.2	-	c.1224G>A	c.(1222-1224)ACG>ACA	p.T408T	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Silent_p.T295T|GBA_uc010pfx.1_Silent_p.T359T|GBA_uc001fji.2_Silent_p.T408T|GBA_uc001fjj.2_Silent_p.T408T|GBA_uc001fjk.2_Silent_p.T408T|GBA_uc001fjl.2_Silent_p.T408T|GBA_uc010pfy.1_Silent_p.T321T	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	408					carbohydrate metabolic process|cell death|lysosome organization|sphingolipid metabolic process	lysosomal membrane	cation binding|glucosylceramidase activity|protein binding			ovary(1)	1	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)									0.875	74.791013	78.087704	21	3	KEEP	---	---	---	---	capture		Silent	SNP	155206036	155206036	6532	1	C	T	T	T	288	23	GBA	1	1
SPTA1	6708	broad.mit.edu	37	1	158607871	158607871	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158607871G>T	uc001fst.1	-	c.5141C>A	c.(5140-5142)GCC>GAC	p.A1714D		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1714	Spectrin 17.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.304636	239.713632	249.983527	92	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158607871	158607871	15630	1	G	T	T	T	546	42	SPTA1	2	2
FCGR2A	2212	broad.mit.edu	37	1	161476251	161476251	+	Silent	SNP	T	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161476251T>C	uc001gan.2	+	c.234T>C	c.(232-234)AAT>AAC	p.N78N	FCGR2A_uc001gam.2_Silent_p.N77N|FCGR2A_uc001gao.2_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	78	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.617647	198.515559	199.747968	63	39	KEEP	---	---	---	---	capture		Silent	SNP	161476251	161476251	6018	1	T	C	C	C	660	51	FCGR2A	4	4
DDR2	4921	broad.mit.edu	37	1	162741929	162741929	+	Silent	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:162741929G>T	uc001gcf.2	+	c.1620G>T	c.(1618-1620)GTG>GTT	p.V540V	DDR2_uc001gcg.2_Silent_p.V540V	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	540	Cytoplasmic (Potential).				cell adhesion|protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			NSCLC(161;314 2006 8283 19651 23192)				497				0.253968	78.193688	85.082171	32	94	KEEP	---	---	---	---	capture		Silent	SNP	162741929	162741929	4508	1	G	T	T	T	587	46	DDR2	2	2
SOAT1	6646	broad.mit.edu	37	1	179314114	179314114	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179314114C>G	uc001gml.2	+	c.1020C>G	c.(1018-1020)ATC>ATG	p.I340M	SOAT1_uc010pni.1_Missense_Mutation_p.I275M|SOAT1_uc001gmm.2_Missense_Mutation_p.I282M|SOAT1_uc010pnj.1_Missense_Mutation_p.I76M|SOAT1_uc010pnk.1_Missense_Mutation_p.I275M	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	340	Helical; (Potential).				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)	1					Ezetimibe(DB00973)|Hesperetin(DB01094)									0.295269	569.710972	592.711865	181	432	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179314114	179314114	15410	1	C	G	G	G	408	32	SOAT1	3	3
PTPRC	5788	broad.mit.edu	37	1	198717268	198717268	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:198717268C>A	uc001gur.1	+	c.2872C>A	c.(2872-2874)CAG>AAG	p.Q958K	PTPRC_uc001gus.1_Missense_Mutation_p.Q910K|PTPRC_uc001gut.1_Missense_Mutation_p.Q797K	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	958	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(2)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	11										815				0.554455	184.807037	185.067087	56	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198717268	198717268	13254	1	C	A	A	A	221	17	PTPRC	2	2
PLA2G5	5322	broad.mit.edu	37	1	20416369	20416369	+	Silent	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20416369G>A	uc001bcx.2	+	c.366G>A	c.(364-366)GCG>GCA	p.A122A	PLA2G5_uc001bcw.2_Non-coding_Transcript|PLA2G5_uc001bcy.2_Silent_p.A91A	NM_000929	NP_000920	P39877	PA2G5_HUMAN	phospholipase A2, group V precursor	91					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)										0.318182	36.135155	37.427754	14	30	KEEP	---	---	---	---	capture		Silent	SNP	20416369	20416369	12433	1	G	A	A	A	509	40	PLA2G5	1	1
MUL1	79594	broad.mit.edu	37	1	20827905	20827905	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20827905A>T	uc001bdi.3	-	c.337T>A	c.(337-339)TGC>AGC	p.C113S		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	113	Mitochondrial intermembrane (Potential).				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)										0.344828	27.036932	27.655535	10	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20827905	20827905	10378	1	A	T	T	T	65	5	MUL1	3	3
RYR2	6262	broad.mit.edu	37	1	237753195	237753195	+	Missense_Mutation	SNP	A	T	T	rs115190655	by1000genomes	TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237753195A>T	uc001hyl.1	+	c.3701A>T	c.(3700-3702)GAG>GTG	p.E1234V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1234	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.355828	160.699592	163.6863	58	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237753195	237753195	14249	1	A	T	T	T	143	11	RYR2	3	3
TFB2M	64216	broad.mit.edu	37	1	246707918	246707918	+	Silent	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:246707918A>G	uc001ibn.2	-	c.924T>C	c.(922-924)TTT>TTC	p.F308F		NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	308					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)											0.338028	82.301594	83.937494	24	47	KEEP	---	---	---	---	capture		Silent	SNP	246707918	246707918	16322	1	A	G	G	G	167	13	TFB2M	4	4
NLRP3	114548	broad.mit.edu	37	1	247587297	247587297	+	Silent	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247587297G>A	uc001icr.2	+	c.552G>A	c.(550-552)GAG>GAA	p.E184E	NLRP3_uc001ics.2_Silent_p.E184E|NLRP3_uc001icu.2_Silent_p.E184E|NLRP3_uc001icw.2_Silent_p.E184E|NLRP3_uc001icv.2_Silent_p.E184E|NLRP3_uc010pyw.1_Silent_p.E182E|NLRP3_uc001ict.1_Silent_p.E182E	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	184					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				0.355932	58.055001	59.135293	21	38	KEEP	---	---	---	---	capture		Silent	SNP	247587297	247587297	10881	1	G	A	A	A	438	34	NLRP3	2	2
OR2T33	391195	broad.mit.edu	37	1	248436163	248436163	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248436163C>A	uc010pzi.1	-	c.954G>T	c.(952-954)AGG>AGT	p.R318S		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	318	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|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;0.0245)											0.521875	538.456293	538.585781	167	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248436163	248436163	11430	1	C	A	A	A	233	18	OR2T33	2	2
RHBDL2	54933	broad.mit.edu	37	1	39352285	39352285	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39352285A>T	uc010oio.1	-	c.1043T>A	c.(1042-1044)TTT>TAT	p.F348Y	RHBDL2_uc010oin.1_3'UTR|RHBDL2_uc001ccu.1_Missense_Mutation_p.F268Y	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	rhomboid protease 2	268						integral to membrane|plasma membrane	serine-type endopeptidase activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)											0.445455	135.498882	135.791645	49	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39352285	39352285	13797	1	A	T	T	T	13	1	RHBDL2	3	3
MACF1	23499	broad.mit.edu	37	1	39750085	39750085	+	Silent	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39750085A>G	uc010ois.1	+	c.1131A>G	c.(1129-1131)TTA>TTG	p.L377L	MACF1_uc001cda.1_Silent_p.L285L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	377					cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.509804	188.60714	188.615815	52	50	KEEP	---	---	---	---	capture		Silent	SNP	39750085	39750085	9521	1	A	G	G	G	206	16	MACF1	4	4
RIMS3	9783	broad.mit.edu	37	1	41101697	41101697	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:41101697G>A	uc001cfu.1	-	c.250C>T	c.(250-252)CGC>TGC	p.R84C	RIMS3_uc001cfv.1_Missense_Mutation_p.R84C	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	84					neurotransmitter transport	cell junction|synapse					0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)											0.479452	111.632752	111.658623	35	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41101697	41101697	13846	1	G	A	A	A	507	39	RIMS3	1	1
ZNF644	84146	broad.mit.edu	37	1	91405243	91405243	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:91405243C>G	uc001dnw.2	-	c.1668G>C	c.(1666-1668)ATG>ATC	p.M556I	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.M556I	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)										0.468085	219.733399	219.858832	66	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91405243	91405243	18655	1	C	G	G	G	273	21	ZNF644	3	3
BRDT	676	broad.mit.edu	37	1	92459700	92459700	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:92459700C>A	uc010osz.1	+	c.2188C>A	c.(2188-2190)CCT>ACT	p.P730T	BRDT_uc001dok.3_Missense_Mutation_p.P726T|BRDT_uc001dol.3_Missense_Mutation_p.P726T|BRDT_uc009wdf.2_Missense_Mutation_p.P653T|BRDT_uc010ota.1_Missense_Mutation_p.P680T|BRDT_uc010otb.1_Missense_Mutation_p.P680T|BRDT_uc001dom.3_Missense_Mutation_p.P726T	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	726					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(1)|ovary(1)|lung(1)	3		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)						576				0.434579	280.437278	281.236723	93	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92459700	92459700	1539	1	C	A	A	A	234	18	BRDT	2	2
PTPRT	11122	broad.mit.edu	37	20	40733347	40733347	+	Silent	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40733347C>A	uc010ggj.2	-	c.3459G>T	c.(3457-3459)GTG>GTT	p.V1153V	PTPRT_uc002xkg.2_Silent_p.V1134V|PTPRT_uc010ggi.2_Silent_p.V337V	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1134	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.5	89.245273	89.245273	29	29	KEEP	---	---	---	---	capture		Silent	SNP	40733347	40733347	13270	20	C	A	A	A	210	17	PTPRT	2	2
NCOA3	8202	broad.mit.edu	37	20	46265192	46265192	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:46265192T>G	uc002xtk.2	+	c.2062T>G	c.(2062-2064)TTG>GTG	p.L688V	NCOA3_uc010ght.1_Missense_Mutation_p.L698V|NCOA3_uc002xtl.2_Missense_Mutation_p.L688V|NCOA3_uc002xtm.2_Missense_Mutation_p.L688V|NCOA3_uc002xtn.2_Missense_Mutation_p.L688V|NCOA3_uc010zyc.1_Missense_Mutation_p.L483V	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	688	LXXLL motif 1.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding|transcription regulator activity			ovary(3)|lung(1)|skin(1)	5										361				0.41	127.845641	128.55533	41	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46265192	46265192	10629	20	T	G	G	G	777	60	NCOA3	4	4
SYCP2	10388	broad.mit.edu	37	20	58467212	58467212	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:58467212T>C	uc002yaz.2	-	c.2197A>G	c.(2197-2199)ATT>GTT	p.I733V		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	733					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)											0.508621	419.863294	419.878563	118	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58467212	58467212	15953	20	T	C	C	C	676	52	SYCP2	4	4
CLDN14	23562	broad.mit.edu	37	21	37833396	37833396	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37833396C>A	uc002yvk.1	-	c.598G>T	c.(598-600)GCC>TCC	p.A200S	CLDN14_uc002yvn.1_Missense_Mutation_p.A200S|CLDN14_uc002yvo.1_Missense_Mutation_p.A200S|CLDN14_uc002yvl.1_Missense_Mutation_p.A200S|CLDN14_uc002yvm.1_Missense_Mutation_p.A200S	NM_012130	NP_036262	O95500	CLD14_HUMAN	claudin 14	200	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0														0.541667	36.177642	36.214685	13	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37833396	37833396	3611	21	C	A	A	A	338	26	CLDN14	2	2
AP1B1	162	broad.mit.edu	37	22	29735760	29735760	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:29735760C>T	uc003afj.2	-	c.2002G>A	c.(2002-2004)GGG>AGG	p.G668R	AP1B1_uc003afi.2_Intron|AP1B1_uc003afk.2_Intron|AP1B1_uc003afl.2_Intron|AP1B1_uc011ako.1_Missense_Mutation_p.G221R	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	668	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)	1														0.857143	18.758734	19.611097	6	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29735760	29735760	741	22	C	T	T	T	286	22	AP1B1	2	2
POLR1B	84172	broad.mit.edu	37	2	113309471	113309471	+	Silent	SNP	T	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113309471T>C	uc010yxn.1	+	c.996T>C	c.(994-996)TGT>TGC	p.C332C	POLR1B_uc002thw.2_Silent_p.C294C|POLR1B_uc010fkn.2_Silent_p.C238C|POLR1B_uc002thx.2_Silent_p.C155C|POLR1B_uc010fko.2_Silent_p.C294C|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Silent_p.C155C|POLR1B_uc010yxo.1_Silent_p.C71C	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	294					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						Ovarian(16;256 576 9537 23969 41147)								0.488584	377.438108	377.461939	107	112	KEEP	---	---	---	---	capture		Silent	SNP	113309471	113309471	12638	2	T	C	C	C	777	60	POLR1B	4	4
CNTNAP5	129684	broad.mit.edu	37	2	125671821	125671821	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125671821T>A	uc010flu.2	+	c.3880T>A	c.(3880-3882)TTG>ATG	p.L1294M	CNTNAP5_uc002tno.2_Missense_Mutation_p.L1293M	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1293	Cytoplasmic (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.527273	263.920944	264.027086	87	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125671821	125671821	3788	2	T	A	A	A	725	56	CNTNAP5	3	3
UGGT1	56886	broad.mit.edu	37	2	128932405	128932405	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128932405G>C	uc002tps.2	+	c.3512G>C	c.(3511-3513)CGC>CCC	p.R1171P	UGGT1_uc002tpr.2_Missense_Mutation_p.R1147P	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	1171					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1														0.486842	247.120481	247.142601	74	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128932405	128932405	17499	2	G	C	C	C	494	38	UGGT1	3	3
TUBA3D	113457	broad.mit.edu	37	2	132240334	132240334	+	Silent	SNP	C	A	A	rs2272356		TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:132240334C>A	uc002tsu.3	+	c.1266C>A	c.(1264-1266)CGC>CGA	p.R422R		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	422					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		Ovarian(137;2059 2432 35543 39401)								0.423913	122.138643	122.595723	39	53	KEEP	---	---	---	---	capture		Silent	SNP	132240334	132240334	17302	2	C	A	A	A	340	27	TUBA3D	1	1
THSD7B	80731	broad.mit.edu	37	2	137814684	137814684	+	Silent	SNP	C	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:137814684C>G	uc002tva.1	+	c.741C>G	c.(739-741)ACC>ACG	p.T247T	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.2_Silent_p.T137T	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)										0.406015	166.507214	167.537683	54	79	KEEP	---	---	---	---	capture		Silent	SNP	137814684	137814684	16408	2	C	G	G	G	301	24	THSD7B	3	3
LRP1B	53353	broad.mit.edu	37	2	141113972	141113972	+	Silent	SNP	T	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141113972T>A	uc002tvj.1	-	c.11469A>T	c.(11467-11469)ACA>ACT	p.T3823T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3823	Extracellular (Potential).|EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.50289	289.493266	289.494406	87	86	KEEP	---	---	---	---	capture		Silent	SNP	141113972	141113972	9328	2	T	A	A	A	652	51	LRP1B	3	3
RIF1	55183	broad.mit.edu	37	2	152300042	152300042	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152300042G>T	uc002txm.2	+	c.1806_splice	c.e18-1	p.R602_splice	RIF1_uc002txl.2_Splice_Site_SNP_p.R602_splice|RIF1_uc010fnv.1_Splice_Site_SNP_p.R566_splice|RIF1_uc002txn.2_Splice_Site_SNP_p.R602_splice|RIF1_uc002txo.2_Splice_Site_SNP_p.R602_splice	NM_018151	NP_060621			RAP1 interacting factor 1						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|lung(2)|kidney(1)	12				BRCA - Breast invasive adenocarcinoma(221;0.0429)						950				0.449275	463.368936	464.14423	155	190	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	152300042	152300042	13834	2	G	T	T	T	455	35	RIF1	5	2
SLC4A10	57282	broad.mit.edu	37	2	162804157	162804157	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162804157T>A	uc002ubx.3	+	c.2185T>A	c.(2185-2187)TCT>ACT	p.S729T	SLC4A10_uc002uby.3_Missense_Mutation_p.S699T|SLC4A10_uc010zcs.1_Missense_Mutation_p.S710T	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	729	Helical; (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5														0.083799	-1.916817	29.641721	15	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162804157	162804157	15148	2	T	A	A	A	754	58	SLC4A10	3	3
XIRP2	129446	broad.mit.edu	37	2	168106972	168106972	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168106972G>T	uc002udx.2	+	c.9070G>T	c.(9070-9072)GTG>TTG	p.V3024L	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V2849L|XIRP2_uc010fpq.2_Missense_Mutation_p.V2802L|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2849	Potential.				actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.464286	406.801742	407.114314	130	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168106972	168106972	18011	2	G	T	T	T	624	48	XIRP2	2	2
GORASP2	26003	broad.mit.edu	37	2	171822507	171822507	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171822507C>T	uc002ugk.2	+	c.1226C>T	c.(1225-1227)TCA>TTA	p.S409L	GORASP2_uc002ugj.2_Missense_Mutation_p.S341L|GORASP2_uc010zdl.1_Missense_Mutation_p.S421L|GORASP2_uc010zdm.1_Missense_Mutation_p.S365L|GORASP2_uc002ugl.2_Missense_Mutation_p.S341L|GORASP2_uc002ugm.2_Missense_Mutation_p.S191L	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	409						Golgi membrane				breast(1)|central_nervous_system(1)	2														0.318182	19.11699	19.763563	7	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171822507	171822507	6849	2	C	T	T	T	377	29	GORASP2	2	2
TTN	7273	broad.mit.edu	37	2	179417150	179417150	+	Silent	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179417150G>T	uc010zfg.1	-	c.82773C>A	c.(82771-82773)CCC>CCA	p.P27591P	TTN_uc010zfh.1_Silent_p.P21286P|TTN_uc010zfi.1_Silent_p.P21219P|TTN_uc010zfj.1_Silent_p.P21094P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1109										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.484848	50.598197	50.604815	16	17	KEEP	---	---	---	---	capture		Silent	SNP	179417150	179417150	17290	2	G	T	T	T	600	47	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179444862	179444862	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179444862G>C	uc010zfg.1	-	c.59448C>G	c.(59446-59448)AGC>AGG	p.S19816R	TTN_uc010zfh.1_Missense_Mutation_p.S13511R|TTN_uc010zfi.1_Missense_Mutation_p.S13444R|TTN_uc010zfj.1_Missense_Mutation_p.S13319R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3349										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.504505	186.016892	186.019189	56	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179444862	179444862	17290	2	G	C	C	C	542	42	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179478980	179478980	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179478980T>G	uc010zfg.1	-	c.41440A>C	c.(41440-41442)AAG>CAG	p.K13814Q	TTN_uc010zfh.1_Missense_Mutation_p.K7509Q|TTN_uc010zfi.1_Missense_Mutation_p.K7442Q|TTN_uc010zfj.1_Missense_Mutation_p.K7317Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2660										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.448276	132.246738	132.443326	39	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179478980	179478980	17290	2	T	G	G	G	793	61	TTN	4	4
WNT10A	80326	broad.mit.edu	37	2	219754906	219754906	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219754906C>T	uc002vjd.1	+	c.577C>T	c.(577-579)CCG>TCG	p.P193S		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	193					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|odontogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity				0		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.333333	16.252697	16.691187	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219754906	219754906	17956	2	C	T	T	T	286	22	WNT10A	2	2
FAM124B	79843	broad.mit.edu	37	2	225266227	225266227	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225266227C>G	uc002vnx.2	-	c.259G>C	c.(259-261)GAC>CAC	p.D87H	FAM124B_uc002vnw.2_Missense_Mutation_p.D87H	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	87							protein binding			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)										0.297297	32.9167	34.272422	11	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	225266227	225266227	5623	2	C	G	G	G	390	30	FAM124B	3	3
CRIM1	51232	broad.mit.edu	37	2	36771536	36771536	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:36771536C>A	uc002rpd.2	+	c.2641C>A	c.(2641-2643)CCA>ACA	p.P881T		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	881	Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)	2		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)												0.417085	250.591413	251.784363	83	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36771536	36771536	4012	2	C	A	A	A	234	18	CRIM1	2	2
SMYD5	10322	broad.mit.edu	37	2	73446058	73446058	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73446058G>T	uc002siw.2	+	c.166G>T	c.(166-168)GCT>TCT	p.A56S	SMYD5_uc010yre.1_5'UTR	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	56							metal ion binding				0														0.518519	41.149194	41.157278	14	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73446058	73446058	15325	2	G	T	T	T	546	42	SMYD5	2	2
NCAPH	23397	broad.mit.edu	37	2	97007619	97007619	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:97007619T>C	uc002svz.1	+	c.259T>C	c.(259-261)TCC>CCC	p.S87P	NCAPH_uc010fhu.1_Missense_Mutation_p.S63P|NCAPH_uc010fhv.1_Missense_Mutation_p.S76P|NCAPH_uc010yum.1_Missense_Mutation_p.S63P|NCAPH_uc010fhw.1_Missense_Mutation_p.S76P|NCAPH_uc010yun.1_Intron|NCAPH_uc002swa.1_Intron	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	87					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)	1		Ovarian(717;0.0221)												0.067797	-2.437177	8.962698	4	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97007619	97007619	10608	2	T	C	C	C	702	54	NCAPH	4	4
ZNF148	7707	broad.mit.edu	37	3	125032482	125032482	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:125032482C>T	uc003ehx.3	-	c.3G>A	c.(1-3)ATG>ATA	p.M1I	ZNF148_uc003ehz.3_Missense_Mutation_p.M1I|ZNF148_uc010hsa.2_Missense_Mutation_p.M1I|ZNF148_uc003eia.3_Missense_Mutation_p.M1I|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	1					cellular defense response|negative regulation of transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|specific RNA polymerase II transcription factor activity|transcription repressor activity|zinc ion binding			ovary(1)|pancreas(1)	2														0.28882	229.743554	242.689511	93	229	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125032482	125032482	18325	3	C	T	T	T	377	29	ZNF148	2	2
PLSCR2	57047	broad.mit.edu	37	3	146171851	146171851	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:146171851C>G	uc003evw.1	-	c.628G>C	c.(628-630)GAT>CAT	p.D210H	PLSCR2_uc003evv.1_Missense_Mutation_p.D141H	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	141	Cytoplasmic (By similarity).				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity				0														0.261905	97.813072	104.27977	33	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146171851	146171851	12536	3	C	G	G	G	390	30	PLSCR2	3	3
PSMD2	5708	broad.mit.edu	37	3	184025155	184025155	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184025155G>A	uc003fnn.1	+	c.2045G>A	c.(2044-2046)GGG>GAG	p.G682E	PSMD2_uc011brj.1_Missense_Mutation_p.G523E|PSMD2_uc011brk.1_Missense_Mutation_p.G552E	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	682					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	Colon(24;313 636 6917 9932 15554)								0.577236	229.279681	229.934854	71	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184025155	184025155	13151	3	G	A	A	A	559	43	PSMD2	2	2
ROBO1	6091	broad.mit.edu	37	3	78649341	78649341	+	Silent	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:78649341A>G	uc003dqe.2	-	c.4863T>C	c.(4861-4863)AAT>AAC	p.N1621N	ROBO1_uc003dqb.2_Silent_p.N1582N|ROBO1_uc003dqc.2_Silent_p.N1521N|ROBO1_uc003dqd.2_Silent_p.N1576N|ROBO1_uc010hoh.2_Silent_p.N813N	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1621	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)						693				0.93578	341.570767	355.836286	102	7	KEEP	---	---	---	---	capture		Silent	SNP	78649341	78649341	13992	3	A	G	G	G	102	8	ROBO1	4	4
UBE2D3	7323	broad.mit.edu	37	4	103730859	103730859	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:103730859C>A	uc003hwq.2	-	c.96G>T	c.(94-96)ATG>ATT	p.M32I	UBE2D3_uc003hwi.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwj.2_Non-coding_Transcript|UBE2D3_uc003hwk.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwl.2_Missense_Mutation_p.M30I|UBE2D3_uc011cet.1_Missense_Mutation_p.M30I|UBE2D3_uc011ceu.1_Missense_Mutation_p.M30I|UBE2D3_uc003hwo.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwp.2_Missense_Mutation_p.M30I|UBE2D3_uc003hwr.2_Missense_Mutation_p.M30I	NM_181893	NP_871622	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3 isoform 3	30					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|post-translational protein modification|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)										0.272727	5.979112	6.45528	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103730859	103730859	17407	4	C	A	A	A	221	17	UBE2D3	2	2
TET2	54790	broad.mit.edu	37	4	106155487	106155487	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:106155487G>C	uc011cez.1	+	c.451G>C	c.(451-453)GAA>CAA	p.E151Q	TET2_uc003hxk.2_Missense_Mutation_p.E130Q|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc010ilp.1_Missense_Mutation_p.E130Q|TET2_uc003hxi.1_Missense_Mutation_p.E130Q	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	130					cell cycle|myeloid cell differentiation|oxidation-reduction process		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(668)|pancreas(1)	669		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)						111				0.52027	279.455769	279.507626	77	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106155487	106155487	16297	4	G	C	C	C	429	33	TET2	3	3
DKK2	27123	broad.mit.edu	37	4	107847035	107847035	+	Silent	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:107847035C>A	uc003hyi.2	-	c.294G>T	c.(292-294)TCG>TCT	p.S98S	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Silent_p.S98S	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	98	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)										0.504348	380.216616	380.220718	116	114	KEEP	---	---	---	---	capture		Silent	SNP	107847035	107847035	4725	4	C	A	A	A	288	23	DKK2	1	1
KIAA1109	84162	broad.mit.edu	37	4	123200955	123200955	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123200955A>G	uc003ieh.2	+	c.8617A>G	c.(8617-8619)AAG>GAG	p.K2873E	KIAA1109_uc003iel.1_Missense_Mutation_p.K808E	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2873					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.510204	136.255878	136.262734	50	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123200955	123200955	8516	4	A	G	G	G	65	5	KIAA1109	4	4
FAT4	79633	broad.mit.edu	37	4	126412316	126412316	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126412316A>G	uc003ifj.3	+	c.14339A>G	c.(14338-14340)GAA>GGA	p.E4780G	FAT4_uc011cgp.1_Missense_Mutation_p.E3021G|FAT4_uc003ifi.1_Missense_Mutation_p.E2257G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4780	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.5	146.227705	146.227705	43	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126412316	126412316	5928	4	A	G	G	G	117	9	FAT4	4	4
MFSD8	256471	broad.mit.edu	37	4	128865085	128865085	+	Silent	SNP	T	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128865085T>C	uc003ifp.2	-	c.261A>G	c.(259-261)CAA>CAG	p.Q87Q	MFSD8_uc011cgu.1_Silent_p.Q42Q|MFSD8_uc011cgv.1_Silent_p.Q87Q|MFSD8_uc011cgw.1_Non-coding_Transcript|MFSD8_uc011cgx.1_Silent_p.Q42Q	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	87	Helical; (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2														0.062044	-9.543039	45.244688	17	257	KEEP	---	---	---	---	capture		Silent	SNP	128865085	128865085	9928	4	T	C	C	C	829	64	MFSD8	4	4
GYPE	2996	broad.mit.edu	37	4	144797951	144797951	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:144797951A>G	uc003ijj.2	-	c.194T>C	c.(193-195)GTT>GCT	p.V65A	GYPE_uc010ion.2_Intron|GYPE_uc003ijk.3_Missense_Mutation_p.V65A	NM_198682	NP_941391	P15421	GLPE_HUMAN	glycophorin E precursor	65	Helical; (Potential).					integral to plasma membrane					0	all_hematologic(180;0.158)													0.923077	94.778015	98.882082	24	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144797951	144797951	7191	4	A	G	G	G	26	2	GYPE	4	4
EVC2	132884	broad.mit.edu	37	4	5576458	5576458	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:5576458A>C	uc003gij.2	-	c.3314T>G	c.(3313-3315)TTG>TGG	p.L1105W	EVC2_uc011bwb.1_Missense_Mutation_p.L545W|EVC2_uc003gik.2_Missense_Mutation_p.L1025W	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1105	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5														0.484536	169.922371	169.942477	47	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5576458	5576458	5479	4	A	C	C	C	65	5	EVC2	4	4
SRD5A3	79644	broad.mit.edu	37	4	56212692	56212692	+	Silent	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:56212692C>T	uc003hau.2	+	c.189C>T	c.(187-189)CCC>CCT	p.P63P		NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	63	Lumenal (Potential).				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|oxidation-reduction process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor				0	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)											0.666667	6.457836	6.52521	2	1	KEEP	---	---	---	---	capture		Silent	SNP	56212692	56212692	15654	4	C	T	T	T	288	23	SRD5A3	1	1
EPHA5	2044	broad.mit.edu	37	4	66218787	66218787	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:66218787C>A	uc011cah.1	-	c.2274G>T	c.(2272-2274)GAG>GAT	p.E758D	EPHA5_uc003hcx.2_Missense_Mutation_p.E689D|EPHA5_uc003hcy.2_Missense_Mutation_p.E757D|EPHA5_uc003hcz.2_Missense_Mutation_p.E735D|EPHA5_uc011cai.1_Missense_Mutation_p.E736D|EPHA5_uc003hda.2_Missense_Mutation_p.E758D	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	757	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|ephrin receptor signaling pathway|neuron development|protein phosphorylation	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(12)|ovary(2)|central_nervous_system(1)	15										537	TSP Lung(17;0.13)			0.344828	81.419221	83.271257	30	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66218787	66218787	5363	4	C	A	A	A	415	32	EPHA5	2	2
SULT1E1	6783	broad.mit.edu	37	4	70709983	70709983	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70709983A>G	uc003heo.2	-	c.668T>C	c.(667-669)ATA>ACA	p.I223T		NM_005420	NP_005411	P49888	ST1E1_HUMAN	estrogen sulfotransferase	223	PAPS.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			ovary(1)	1														0.262799	222.382783	237.268729	77	216	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70709983	70709983	15900	4	A	G	G	G	208	16	SULT1E1	4	4
BMP3	651	broad.mit.edu	37	4	81967347	81967347	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:81967347A>G	uc003hmg.3	+	c.772A>G	c.(772-774)AGC>GGC	p.S258G		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	258					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5														0.477876	176.622663	176.676768	54	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81967347	81967347	1486	4	A	G	G	G	39	3	BMP3	4	4
DMP1	1758	broad.mit.edu	37	4	88583611	88583611	+	Silent	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88583611G>A	uc003hqv.2	+	c.681G>A	c.(679-681)AGG>AGA	p.R227R	DMP1_uc003hqw.2_Silent_p.R211R	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	227					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)										0.468468	174.593576	174.689468	52	59	KEEP	---	---	---	---	capture		Silent	SNP	88583611	88583611	4763	4	G	A	A	A	555	43	DMP1	2	2
KDM3B	51780	broad.mit.edu	37	5	137708496	137708496	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:137708496G>A	uc003lcy.1	+	c.326G>A	c.(325-327)GGC>GAC	p.G109D	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	109					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|lung(2)|kidney(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9														0.076923	-0.464551	6.644062	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137708496	137708496	8433	5	G	A	A	A	546	42	KDM3B	2	2
HTR4	3360	broad.mit.edu	37	5	147928401	147928401	+	Silent	SNP	A	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:147928401A>T	uc003lpm.2	-	c.183T>A	c.(181-183)TCT>TCA	p.S61S	HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc003lpi.1_Silent_p.S61S|HTR4_uc003lpj.1_Silent_p.S61S|HTR4_uc003lpk.2_Silent_p.S61S|HTR4_uc011dby.1_Silent_p.S61S|HTR4_uc003lpl.2_Silent_p.S61S|HTR4_uc003lpn.2_Silent_p.S61S|HTR4_uc010jgv.2_Non-coding_Transcript|HTR4_uc003lpo.1_Silent_p.S61S	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform i	61	Helical; Name=2; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GBM(120;370 1604 14007 17804 41573)								0.941176	280.751858	293.081747	80	5	KEEP	---	---	---	---	capture		Silent	SNP	147928401	147928401	7749	5	A	T	T	T	132	11	HTR4	3	3
TARS	6897	broad.mit.edu	37	5	33461819	33461819	+	Silent	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33461819C>T	uc011coc.1	+	c.1662C>T	c.(1660-1662)AAC>AAT	p.N554N	TARS_uc011cob.1_Silent_p.N521N|TARS_uc010iup.1_Silent_p.N474N|TARS_uc003jhy.2_Silent_p.N533N|TARS_uc003jhz.2_Silent_p.N429N|TARS_uc011cod.1_Silent_p.N412N	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	533					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)									0.287402	199.456949	209.767341	73	181	KEEP	---	---	---	---	capture		Silent	SNP	33461819	33461819	16081	5	C	T	T	T	259	20	TARS	2	2
ACOT12	134526	broad.mit.edu	37	5	80655735	80655735	+	Silent	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:80655735A>G	uc003khl.3	-	c.483T>C	c.(481-483)AGT>AGC	p.S161S	RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Silent_p.S161S	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	161					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)										0.982759	235.004426	236.393842	57	1	KEEP	---	---	---	---	capture		Silent	SNP	80655735	80655735	151	5	A	G	G	G	180	14	ACOT12	4	4
PRDM13	59336	broad.mit.edu	37	6	100056654	100056654	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:100056654G>T	uc003pqg.1	+	c.182G>T	c.(181-183)GGG>GTG	p.G61V		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	61	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)										0.333333	9.395997	9.691208	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100056654	100056654	12896	6	G	T	T	T	559	43	PRDM13	2	2
RTN4IP1	84816	broad.mit.edu	37	6	107069328	107069328	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:107069328G>A	uc003prj.2	-	c.467C>T	c.(466-468)TCA>TTA	p.S156L	RTN4IP1_uc010kdd.2_Missense_Mutation_p.S156L|RTN4IP1_uc003prk.2_Missense_Mutation_p.S56L	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	156					oxidation-reduction process	mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)										0.460526	106.01739	106.120422	35	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107069328	107069328	14209	6	G	A	A	A	585	45	RTN4IP1	2	2
PLN	5350	broad.mit.edu	37	6	118880214	118880214	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:118880214C>A	uc003pye.2	+	c.130C>A	c.(130-132)CTG>ATG	p.L44M	C6orf204_uc003pxz.1_Intron|C6orf204_uc003pya.1_Intron|C6orf204_uc003pyb.2_Intron|C6orf204_uc011ebj.1_Intron|C6orf204_uc003pyc.2_Intron	NM_002667	NP_002658	P26678	PPLA_HUMAN	phospholamban	44	Helical; (Potential).				blood circulation|regulation of calcium ion transport	integral to membrane|mitochondrial membrane|sarcoplasmic reticulum	calcium channel regulator activity|protein binding				0		all_cancers(87;0.0916)|all_epithelial(87;0.131)		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)										0.333333	175.085634	179.662538	62	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118880214	118880214	12526	6	C	A	A	A	363	28	PLN	2	2
MCM9	254394	broad.mit.edu	37	6	119245037	119245037	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:119245037G>A	uc003pyh.2	-	c.560C>T	c.(559-561)TCA>TTA	p.S187L		NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	187					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			ovary(1)	1		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)										0.517857	83.555444	83.570284	29	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119245037	119245037	9783	6	G	A	A	A	585	45	MCM9	2	2
EDN1	1906	broad.mit.edu	37	6	12296272	12296272	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:12296272A>T	uc003nae.3	+	c.611A>T	c.(610-612)TAT>TTT	p.Y204F	EDN1_uc003nad.2_3'UTR|EDN1_uc003naf.3_Missense_Mutation_p.Y203F	NM_001955	NP_001946	P05305	EDN1_HUMAN	endothelin 1 precursor	204					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of nitric-oxide synthase biosynthetic process|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity				0	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)								58				0.373134	306.331765	310.118946	100	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12296272	12296272	5103	6	A	T	T	T	208	16	EDN1	3	3
SMPDL3A	10924	broad.mit.edu	37	6	123130282	123130282	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:123130282G>A	uc003pzg.2	+	c.1091G>A	c.(1090-1092)GGA>GAA	p.G364E	SMPDL3A_uc003pzh.2_Missense_Mutation_p.G233E	NM_006714	NP_006705	Q92484	ASM3A_HUMAN	acid sphingomyelinase-like phosphodiesterase 3A	364					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity				0				GBM - Glioblastoma multiforme(226;0.236)										0.446602	140.334528	140.590716	46	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123130282	123130282	15308	6	G	A	A	A	533	41	SMPDL3A	2	2
EYA4	2070	broad.mit.edu	37	6	133827278	133827278	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:133827278T>A	uc011ecs.1	+	c.1244T>A	c.(1243-1245)ATG>AAG	p.M415K	EYA4_uc011ecq.1_Missense_Mutation_p.M355K|EYA4_uc011ecr.1_Missense_Mutation_p.M361K|EYA4_uc003qec.3_Missense_Mutation_p.M409K|EYA4_uc003qed.3_Missense_Mutation_p.M409K|EYA4_uc003qee.3_Missense_Mutation_p.M386K	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	409					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		Melanoma(57;398 1237 3528 4702 7415)								0.445455	155.257566	155.543021	49	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133827278	133827278	5525	6	T	A	A	A	663	51	EYA4	3	3
SYNE1	23345	broad.mit.edu	37	6	152652224	152652224	+	Silent	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152652224C>T	uc010kiw.2	-	c.13596G>A	c.(13594-13596)GTG>GTA	p.V4532V	SYNE1_uc003qot.3_Silent_p.V4461V|SYNE1_uc003qou.3_Silent_p.V4532V|SYNE1_uc010kiz.2_Silent_p.V287V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4532	Cytoplasmic (Potential).|Spectrin 13.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.464945	351.173456	351.467122	126	145	KEEP	---	---	---	---	capture		Silent	SNP	152652224	152652224	15966	6	C	T	T	T	314	25	SYNE1	2	2
HLA-G	3135	broad.mit.edu	37	6	29797632	29797632	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29797632T>A	uc003raj.3	+	c.950T>A	c.(949-951)GTT>GAT	p.V317D	HLA-G_uc011dmb.1_Missense_Mutation_p.V284D|HLA-G_uc003nnw.2_Missense_Mutation_p.V312D|HLA-G_uc003nnz.3_Missense_Mutation_p.V220D|HLA-G_uc010jrn.2_Missense_Mutation_p.V128D|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc003ran.1_Non-coding_Transcript	NM_002127	NP_002118	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	312	Helical; (Potential).				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			ovary(3)|central_nervous_system(1)	4														0.387755	50.103579	50.647453	19	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29797632	29797632	7503	6	T	A	A	A	780	60	HLA-G	3	3
C6orf138	442213	broad.mit.edu	37	6	47846939	47846939	+	Silent	SNP	T	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47846939T>A	uc011dwm.1	-	c.1590A>T	c.(1588-1590)GCA>GCT	p.A530A	C6orf138_uc011dwn.1_Silent_p.A294A	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	547						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.65	86.753958	87.546189	26	14	KEEP	---	---	---	---	capture		Silent	SNP	47846939	47846939	2435	6	T	A	A	A	704	55	C6orf138	3	3
TFAP2B	7021	broad.mit.edu	37	6	50807960	50807960	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50807960C>A	uc003pag.2	+	c.1032C>A	c.(1030-1032)CAC>CAA	p.H344Q		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	344					nervous system development|positive regulation of transcription from RNA polymerase II promoter, global	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					Pancreas(116;1373 2332 5475 10752)								0.513699	237.994241	238.021636	75	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50807960	50807960	16316	6	C	A	A	A	220	17	TFAP2B	2	2
BAI3	577	broad.mit.edu	37	6	69653863	69653863	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:69653863C>A	uc003pev.3	+	c.1172C>A	c.(1171-1173)CCT>CAT	p.P391H	BAI3_uc010kak.2_Missense_Mutation_p.P391H	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	391	Extracellular (Potential).|TSP type-1 2.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.455939	362.689125	363.131255	119	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69653863	69653863	1321	6	C	A	A	A	312	24	BAI3	2	2
HTR1E	3354	broad.mit.edu	37	6	87725323	87725323	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:87725323G>C	uc003pli.2	+	c.271G>C	c.(271-273)GGG>CGG	p.G91R		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	91	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.G91R(1)		ovary(2)	2		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)									0.48	211.777184	211.834386	72	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87725323	87725323	7739	6	G	C	C	C	611	47	HTR1E	3	3
EPO	2056	broad.mit.edu	37	7	100319219	100319219	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100319219T>A	uc003uwi.2	+	c.52T>A	c.(52-54)TCG>ACG	p.S18T	EPO_uc011kkc.1_Missense_Mutation_p.S18T	NM_000799	NP_000790	P01588	EPO_HUMAN	erythropoietin precursor	18					blood circulation|erythrocyte maturation|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of gene-specific transcription|positive regulation of Ras protein signal transduction|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|hormone activity			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)					64				0.333333	9.9977	10.292059	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100319219	100319219	5381	7	T	A	A	A	754	58	EPO	3	3
TSPAN12	23554	broad.mit.edu	37	7	120428836	120428836	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:120428836G>A	uc003vjk.2	-	c.728C>T	c.(727-729)ACT>ATT	p.T243I	TSPAN12_uc010lkj.2_Missense_Mutation_p.T116I	NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	243	Helical; (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)													0.493243	454.672855	454.683731	146	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120428836	120428836	17187	7	G	A	A	A	468	36	TSPAN12	2	2
DENND2A	27147	broad.mit.edu	37	7	140285473	140285473	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140285473C>A	uc010lnj.2	-	c.1161G>T	c.(1159-1161)GAG>GAT	p.E387D	DENND2A_uc011kre.1_Non-coding_Transcript|DENND2A_uc010lnk.2_Missense_Mutation_p.E387D|DENND2A_uc003vvw.2_Missense_Mutation_p.E387D|DENND2A_uc003vvx.2_Missense_Mutation_p.E387D	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	387										ovary(3)|breast(1)	4	Melanoma(164;0.00956)													0.46729	311.27377	311.473668	100	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140285473	140285473	4608	7	C	A	A	A	259	20	DENND2A	2	2
SSPO	23145	broad.mit.edu	37	7	149502581	149502581	+	Silent	SNP	C	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149502581C>G	uc010lpk.2	+	c.8394C>G	c.(8392-8394)CGC>CGG	p.R2798R		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2798	TSP type-1 7.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)											0.5	15.976014	15.976014	5	5	KEEP	---	---	---	---	capture		Silent	SNP	149502581	149502581	15705	7	C	G	G	G	314	25	SSPO	3	3
MLL3	58508	broad.mit.edu	37	7	151864259	151864259	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151864259T>C	uc003wla.2	-	c.9722A>G	c.(9721-9723)CAA>CGA	p.Q3241R	MLL3_uc003wkz.2_Missense_Mutation_p.Q2302R|MLL3_uc003wky.2_Missense_Mutation_p.Q750R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3241	Gln-rich.|Potential.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)				1780				0.445545	306.547227	307.064681	90	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151864259	151864259	10012	7	T	C	C	C	819	63	MLL3	4	4
CCM2	83605	broad.mit.edu	37	7	45077868	45077868	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:45077868C>T	uc003tms.2	+	c.110C>T	c.(109-111)CCA>CTA	p.P37L	CCM2_uc003tmn.2_Non-coding_Transcript|CCM2_uc003tmo.2_Missense_Mutation_p.P16L|CCM2_uc003tmp.2_Intron|CCM2_uc003tmq.2_Non-coding_Transcript|CCM2_uc003tmr.2_Missense_Mutation_p.P16L|CCM2_uc011kcb.1_Intron|CCM2_uc011kcc.1_Missense_Mutation_p.P37L	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 1	16					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0														0.405172	143.400984	144.313074	47	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45077868	45077868	3035	7	C	T	T	T	273	21	CCM2	2	2
HGF	3082	broad.mit.edu	37	7	81374365	81374365	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81374365G>T	uc003uhl.2	-	c.697C>A	c.(697-699)CAG>AAG	p.Q233K	HGF_uc003uhm.2_Missense_Mutation_p.Q228K|HGF_uc003uhn.1_Missense_Mutation_p.Q233K|HGF_uc003uho.1_Missense_Mutation_p.Q228K	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	233	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.398305	136.67455	137.748605	47	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81374365	81374365	7369	7	G	T	T	T	585	45	HGF	2	2
FAM167A	83648	broad.mit.edu	37	8	11282067	11282067	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11282067C>T	uc010lry.1	-	c.460G>A	c.(460-462)GAA>AAA	p.E154K	C8orf12_uc003wtu.2_Intron|C8orf12_uc003wtv.2_Intron|FAM167A_uc003wtw.2_Missense_Mutation_p.E154K	NM_053279	NP_444509	Q96KS9	F167A_HUMAN	hypothetical protein LOC83648	154	Potential.										0														0.533333	75.2092	75.253862	24	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11282067	11282067	5687	8	C	T	T	T	403	31	FAM167A	1	1
CSMD3	114788	broad.mit.edu	37	8	113421176	113421176	+	Silent	SNP	C	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113421176C>A	uc003ynu.2	-	c.5481G>T	c.(5479-5481)CTG>CTT	p.L1827L	CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Silent_p.L1787L|CSMD3_uc011lhx.1_Silent_p.L1723L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1827	Extracellular (Potential).|CUB 10.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.410256	347.937915	349.858168	112	161	KEEP	---	---	---	---	capture		Silent	SNP	113421176	113421176	4087	8	C	A	A	A	210	17	CSMD3	2	2
MRPL13	28998	broad.mit.edu	37	8	121437552	121437552	+	Silent	SNP	T	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121437552T>A	uc003ypa.2	-	c.300A>T	c.(298-300)CCA>CCT	p.P100P	MRPL13_uc010mdf.2_Non-coding_Transcript	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	100					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)	1	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)											0.473282	203.642622	203.723893	62	69	KEEP	---	---	---	---	capture		Silent	SNP	121437552	121437552	10171	8	T	A	A	A	704	55	MRPL13	3	3
ADCY8	114	broad.mit.edu	37	8	131861961	131861961	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131861961A>C	uc003ytd.3	-	c.2299T>G	c.(2299-2301)TTG>GTG	p.L767V	ADCY8_uc010mds.2_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	767					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			large_intestine(1)|central_nervous_system(1)	2	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)											0.548387	187.954438	188.148075	51	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131861961	131861961	301	8	A	C	C	C	11	1	ADCY8	4	4
TUSC3	7991	broad.mit.edu	37	8	15605885	15605885	+	Silent	SNP	A	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:15605885A>T	uc003wwt.2	+	c.939A>T	c.(937-939)ATA>ATT	p.I313I	TUSC3_uc003wwu.2_Silent_p.I313I|TUSC3_uc003wwv.2_Silent_p.I313I|TUSC3_uc003www.2_Intron|TUSC3_uc003wwx.2_Non-coding_Transcript|TUSC3_uc003wwy.2_Intron	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	313	Helical; (Potential).				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)										0.504132	383.76086	383.764661	122	120	KEEP	---	---	---	---	capture		Silent	SNP	15605885	15605885	17334	8	A	T	T	T	163	13	TUSC3	3	3
TEX15	56154	broad.mit.edu	37	8	30699765	30699765	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30699765G>A	uc003xil.2	-	c.6769C>T	c.(6769-6771)CAA>TAA	p.Q2257*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2257										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.475728	152.261697	152.314942	49	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30699765	30699765	16306	8	G	A	A	A	611	47	TEX15	5	2
SLC20A2	6575	broad.mit.edu	37	8	42302222	42302222	+	Silent	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42302222G>A	uc010lxl.2	-	c.672C>T	c.(670-672)CTC>CTT	p.L224L	SLC20A2_uc010lxm.2_Silent_p.L224L|SLC20A2_uc003xpe.2_Silent_p.L224L|SLC20A2_uc011lcu.1_Silent_p.L26L	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	224	Helical; (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)											0.333333	40.635977	41.669215	14	28	KEEP	---	---	---	---	capture		Silent	SNP	42302222	42302222	14935	8	G	A	A	A	522	41	SLC20A2	2	2
KCNB2	9312	broad.mit.edu	37	8	73849937	73849938	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:73849937_73849938GG>TT	uc003xzb.2	+	c.2347_2348GG>TT	c.(2347-2349)GGG>TTG	p.G783L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	783	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4	Breast(64;0.137)		Epithelial(68;0.105)											0.45082	165.791629	166.033959	55	67	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	73849937	73849938	8318	8	GG	TT	TT	TT	455	35	KCNB2	2	2
OSR2	116039	broad.mit.edu	37	8	99962908	99962908	+	Silent	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99962908C>T	uc011lgx.1	+	c.1044C>T	c.(1042-1044)CCC>CCT	p.P348P	OSR2_uc010mbn.2_Silent_p.P227P|OSR2_uc003yir.2_Silent_p.P227P|OSR2_uc003yiq.2_Silent_p.P227P	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	227					bone morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|mesonephros development|metanephros development|middle ear morphogenesis|odontogenesis|osteoblast proliferation|palate development|positive regulation of epithelial cell proliferation|positive regulation of gene expression	nucleus	sequence-specific DNA binding|transcription activator activity|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)											0.333333	11.895799	12.191107	4	8	KEEP	---	---	---	---	capture		Silent	SNP	99962908	99962908	11705	8	C	T	T	T	301	24	OSR2	2	2
SVEP1	79987	broad.mit.edu	37	9	113170491	113170491	+	Silent	SNP	G	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113170491G>C	uc010mtz.2	-	c.7389C>G	c.(7387-7389)CTC>CTG	p.L2463L	SVEP1_uc010mty.2_Silent_p.L389L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2463	Sushi 18.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.354839	34.526742	35.097669	11	20	KEEP	---	---	---	---	capture		Silent	SNP	113170491	113170491	15940	9	G	C	C	C	418	33	SVEP1	3	3
SVEP1	79987	broad.mit.edu	37	9	113259169	113259169	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113259169T>A	uc010mtz.2	-	c.1726A>T	c.(1726-1728)AAG>TAG	p.K576*	SVEP1_uc010mua.1_Nonsense_Mutation_p.K576*|SVEP1_uc004beu.2_Nonsense_Mutation_p.K576*	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	576	HYR 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.571429	24.301078	24.363266	8	6	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113259169	113259169	15940	9	T	A	A	A	793	61	SVEP1	5	3
C9orf43	257169	broad.mit.edu	37	9	116187352	116187352	+	Silent	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116187352A>G	uc004bho.3	+	c.861A>G	c.(859-861)ACA>ACG	p.T287T	C9orf43_uc004bhp.2_Silent_p.T287T	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	287											0														0.480519	115.950424	115.976699	37	40	KEEP	---	---	---	---	capture		Silent	SNP	116187352	116187352	2598	9	A	G	G	G	80	7	C9orf43	4	4
RABGAP1	23637	broad.mit.edu	37	9	125852587	125852587	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125852587A>T	uc011lzh.1	+	c.2551A>T	c.(2551-2553)AGG>TGG	p.R851W	RABGAP1_uc004bnl.3_Non-coding_Transcript|RABGAP1_uc011lzj.1_Missense_Mutation_p.R190W	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	851	Potential.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5														0.065217	-2.713399	6.318586	3	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125852587	125852587	13423	9	A	T	T	T	140	11	RABGAP1	3	3
NR5A1	2516	broad.mit.edu	37	9	127262970	127262970	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:127262970C>T	uc004boo.1	-	c.269G>A	c.(268-270)GGT>GAT	p.G90D		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	90					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0														0.7	22.129025	22.48752	7	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127262970	127262970	11040	9	C	T	T	T	234	18	NR5A1	2	2
COL5A1	1289	broad.mit.edu	37	9	137708877	137708877	+	Silent	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137708877C>T	uc004cfe.2	+	c.4128C>T	c.(4126-4128)TCC>TCT	p.S1376S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1376	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)|skin(1)	8		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)										0.5	48.6981	48.6981	16	16	KEEP	---	---	---	---	capture		Silent	SNP	137708877	137708877	3834	9	C	T	T	T	275	22	COL5A1	2	2
FRMPD1	22844	broad.mit.edu	37	9	37745306	37745306	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37745306G>C	uc004aag.1	+	c.3277G>C	c.(3277-3279)GAG>CAG	p.E1093Q	FRMPD1_uc004aah.1_Missense_Mutation_p.E1093Q	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1093						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|breast(1)	7				GBM - Glioblastoma multiforme(29;0.00655)										0.466667	165.355481	165.45786	49	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37745306	37745306	6307	9	G	C	C	C	429	33	FRMPD1	3	3
PGM5	5239	broad.mit.edu	37	9	71098888	71098888	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71098888G>A	uc004agr.2	+	c.1403G>A	c.(1402-1404)AGC>AAC	p.S468N		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	468					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2														0.491961	482.562665	482.58001	153	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71098888	71098888	12224	9	G	A	A	A	442	34	PGM5	2	2
SHC3	53358	broad.mit.edu	37	9	91656987	91656987	+	Silent	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:91656987C>T	uc004aqg.2	-	c.1314G>A	c.(1312-1314)GCG>GCA	p.A438A		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	438	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4														0.057692	-7.332482	14.005127	6	98	KEEP	---	---	---	---	capture		Silent	SNP	91656987	91656987	14764	9	C	T	T	T	288	23	SHC3	1	1
TRMT2B	79979	broad.mit.edu	37	X	100276997	100276997	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100276997C>G	uc004egq.2	-	c.811G>C	c.(811-813)GGA>CGA	p.G271R	TRMT2B_uc004egp.2_Non-coding_Transcript|TRMT2B_uc004egr.2_Missense_Mutation_p.G271R|TRMT2B_uc004egs.2_Missense_Mutation_p.G271R|TRMT2B_uc004egt.2_Missense_Mutation_p.G271R|TRMT2B_uc004egu.2_Missense_Mutation_p.G152R|TRMT2B_uc004egv.2_Missense_Mutation_p.G226R	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	271							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1														0.402597	96.103713	96.743846	31	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100276997	100276997	17116	23	C	G	G	G	273	21	TRMT2B	3	3
TEX13A	56157	broad.mit.edu	37	X	104463999	104463999	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:104463999G>T	uc004ema.2	-	c.877C>A	c.(877-879)CCT>ACT	p.P293T	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.F293L	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	293						intracellular	zinc ion binding			ovary(2)	2														0.468354	104.462855	104.532034	37	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104463999	104463999	16303	23	G	T	T	T	529	41	TEX13A	2	2
NRK	203447	broad.mit.edu	37	X	105181439	105181439	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105181439T>A	uc004emd.2	+	c.3664T>A	c.(3664-3666)TTG>ATG	p.L1222M	NRK_uc010npc.1_Missense_Mutation_p.L890M	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1222	CNH.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14										430				0.371429	34.06457	34.573294	13	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105181439	105181439	11060	23	T	A	A	A	829	64	NRK	3	3
DOCK11	139818	broad.mit.edu	37	X	117722182	117722182	+	Silent	SNP	T	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:117722182T>A	uc004eqp.2	+	c.1878T>A	c.(1876-1878)GTT>GTA	p.V626V	DOCK11_uc004eqq.2_Silent_p.V392V	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	626					blood coagulation	cytosol	GTP binding			ovary(3)	3														0.470588	337.035993	337.230612	120	135	KEEP	---	---	---	---	capture		Silent	SNP	117722182	117722182	4870	23	T	A	A	A	795	62	DOCK11	3	3
ZCCHC12	170261	broad.mit.edu	37	X	117960045	117960045	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:117960045G>A	uc004equ.2	+	c.838G>A	c.(838-840)GTG>ATG	p.V280M		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1														0.423729	146.629626	147.228512	50	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117960045	117960045	18169	23	G	A	A	A	572	44	ZCCHC12	2	2
FRMPD4	9758	broad.mit.edu	37	X	12725741	12725742	+	Missense_Mutation	DNP	CG	AA	AA			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:12725741_12725742CG>AA	uc004cuz.1	+	c.1441_1442CG>AA	c.(1441-1443)CGG>AAG	p.R481K	FRMPD4_uc011mij.1_Missense_Mutation_p.R473K	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	481	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13														0.476744	253.75235	253.832036	82	90	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	12725741	12725742	6309	23	CG	AA	AA	AA	347	27	FRMPD4	1	1
MAGEA6	4105	broad.mit.edu	37	X	151869823	151869823	+	Silent	SNP	C	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151869823C>T	uc004ffq.1	+	c.513C>T	c.(511-513)CCC>CCT	p.P171P	MAGEA6_uc004ffr.1_Silent_p.P171P|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	171	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)													0.452632	134.219755	134.404374	43	52	KEEP	---	---	---	---	capture		Silent	SNP	151869823	151869823	9549	23	C	T	T	T	262	21	MAGEA6	2	2
ZNF275	10838	broad.mit.edu	37	X	152613207	152613207	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152613207G>T	uc011mym.1	+	c.1064G>T	c.(1063-1065)GGC>GTC	p.G355V	ZNF275_uc004fhg.1_Intron|ZNF275_uc011myn.1_Missense_Mutation_p.G292V	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	271										ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.391304	24.668366	24.906743	9	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152613207	152613207	18402	23	G	T	T	T	534	42	ZNF275	2	2
FAM50A	9130	broad.mit.edu	37	X	153674843	153674843	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153674843A>T	uc004fll.3	+	c.377A>T	c.(376-378)GAG>GTG	p.E126V		NM_004699	NP_004690	Q14320	FA50A_HUMAN	XAP-5 protein	126					spermatogenesis	nucleus				ovary(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.636364	23.527644	23.707468	7	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153674843	153674843	5799	23	A	T	T	T	143	11	FAM50A	3	3
FAM48B1	100130302	broad.mit.edu	37	X	24382882	24382882	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:24382882G>C	uc011mjx.1	+	c.2005G>C	c.(2005-2007)GCA>CCA	p.A669P		NM_001136234	NP_001129706			hypothetical protein LOC100130302											kidney(1)	1														0.408163	59.250296	59.593218	20	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24382882	24382882	5795	23	G	C	C	C	442	34	FAM48B1	3	3
MAGEB4	4115	broad.mit.edu	37	X	30261205	30261205	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30261205G>T	uc004dcb.2	+	c.953G>T	c.(952-954)CGG>CTG	p.R318L	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	318										ovary(1)	1														0.571429	76.403058	76.589944	24	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30261205	30261205	9559	23	G	T	T	T	507	39	MAGEB4	1	1
FAM47C	442444	broad.mit.edu	37	X	37028942	37028942	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37028942G>T	uc004ddl.1	+	c.2459G>T	c.(2458-2460)GGA>GTA	p.G820V		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	820										ovary(3)	3														0.445378	147.461841	147.770009	53	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37028942	37028942	5792	23	G	T	T	T	533	41	FAM47C	2	2
FOXR2	139628	broad.mit.edu	37	X	55650340	55650340	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:55650340A>T	uc004duo.2	+	c.196A>T	c.(196-198)AGT>TGT	p.S66C		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	66					embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(2)|central_nervous_system(1)	3														0.459184	139.263979	139.405847	45	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55650340	55650340	6278	23	A	T	T	T	91	7	FOXR2	3	3
UBQLN2	29978	broad.mit.edu	37	X	56591354	56591354	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:56591354A>G	uc004dus.2	+	c.1048A>G	c.(1048-1050)ACT>GCT	p.T350A	UBQLN2_uc011moq.1_Missense_Mutation_p.T350A	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	350						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						Esophageal Squamous(104;218 1492 6022 10838 28884)								0.333333	13.597124	13.89177	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56591354	56591354	17455	23	A	G	G	G	182	14	UBQLN2	4	4
OGT	8473	broad.mit.edu	37	X	70793528	70793528	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70793528A>G	uc004eaa.1	+	c.3025A>G	c.(3025-3027)ACC>GCC	p.T1009A	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.T999A|OGT_uc004eac.2_Missense_Mutation_p.T870A|OGT_uc004ead.2_Missense_Mutation_p.T628A	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	1009					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)													0.575	75.328379	75.52435	23	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70793528	70793528	11252	23	A	G	G	G	78	6	OGT	4	4
MAGEE1	57692	broad.mit.edu	37	X	75649783	75649784	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:75649783_75649784CC>AA	uc004ecm.1	+	c.1460_1461CC>AA	c.(1459-1461)CCC>CAA	p.P487Q		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	487						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6														0.478261	70.548045	70.566909	22	24	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	75649783	75649784	9568	23	CC	AA	AA	AA	286	22	MAGEE1	2	2
CYLC1	1538	broad.mit.edu	37	X	83128938	83128938	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:83128938G>T	uc004eei.1	+	c.1222G>T	c.(1222-1224)GAT>TAT	p.D408Y	CYLC1_uc004eeh.1_Missense_Mutation_p.D407Y	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	408	4.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5														0.426667	92.281832	92.634821	32	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83128938	83128938	4306	23	G	T	T	T	585	45	CYLC1	2	2
DIAPH2	1730	broad.mit.edu	37	X	96212914	96212914	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:96212914G>C	uc004efu.3	+	c.1702G>C	c.(1702-1704)GCG>CCG	p.A568P	DIAPH2_uc004eft.3_Missense_Mutation_p.A568P	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	568	Poly-Pro.|FH1.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4														0.222222	13.659715	15.561043	6	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96212914	96212914	4698	23	G	C	C	C	494	38	DIAPH2	3	3
SLCO2B1	11309	broad.mit.edu	37	11	74899193	74899193	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:74899193_74899193delC	uc001owb.2	+	c.985_985delC	c.(985-987)CCCfs	p.P329fs	SLCO2B1_uc010rrq.1_Frame_Shift_Del_p.P74fs|SLCO2B1_uc010rrr.1_Frame_Shift_Del_p.P185fs|SLCO2B1_uc010rrs.1_Frame_Shift_Del_p.P213fs|SLCO2B1_uc001owc.2_Frame_Shift_Del_p.P102fs|SLCO2B1_uc001owd.2_Frame_Shift_Del_p.P307fs	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	329	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)									0.44			23	29		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	74899193	74899193	15224	11	C	-	-	-	390	30	SLCO2B1	5	5
RB1	5925	broad.mit.edu	37	13	48919228	48919229	+	Frame_Shift_Ins	INS	-	T	T			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:48919228_48919229insT	uc001vcb.2	+	c.393_394insT	c.(391-396)TTCTTTfs	p.F131fs	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	131_132					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|transcription repressor activity|ubiquitin protein ligase binding	p.?(2)		lung(93)|eye(89)|central_nervous_system(47)|bone(22)|breast(20)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|soft_tissue(8)|prostate(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	355		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			6	p.F131L(JHUEM7-Tumor)	568	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0.93			14	1		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	48919228	48919229	13559	13	-	T	T	T	415	32	RB1	5	5
NOTCH3	4854	broad.mit.edu	37	19	15297935	15297935	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15297935_15297935delG	uc002nan.2	-	c.1821_1821delC	c.(1819-1821)CGCfs	p.R607fs	NOTCH3_uc002nao.1_Frame_Shift_Del_p.R607fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	607	Extracellular (Potential).|EGF-like 15; calcium-binding (Potential).		R -> C (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			ovary(5)|lung(2)|central_nervous_system(1)	8			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)							417				0.56			5	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	15297935	15297935	10953	19	G	-	-	-	431	34	NOTCH3	5	5
ZNF492	57615	broad.mit.edu	37	19	22836811	22836811	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22836811_22836811delC	uc002nqw.3	+	c.124_124delC	c.(124-126)CCCfs	p.P42fs		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)												0.38			61	100		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	22836811	22836811	18537	19	C	-	-	-	234	18	ZNF492	5	5
NFASC	23114	broad.mit.edu	37	1	204970335	204970336	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204970335_204970336delCC	uc001hbj.2	+	c.3057_3058delCC	c.(3055-3060)CTCCCCfs	p.L1019fs	NFASC_uc010pra.1_Intron|NFASC_uc001hbi.2_Intron|NFASC_uc010prb.1_Intron|NFASC_uc010prc.1_Intron|NFASC_uc001hbl.1_Intron|NFASC_uc001hbm.1_Intron|NFASC_uc009xbh.1_Intron	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	1126_1127	Extracellular (Potential).|Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)	4	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)											0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	204970335	204970336	10759	1	CC	-	-	-	379	30	NFASC	5	5
MFSD4	148808	broad.mit.edu	37	1	205568346	205568346	+	Frame_Shift_Del	DEL	T	-	-			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205568346_205568346delT	uc001hcv.3	+	c.1456_1456delT	c.(1456-1458)TTTfs	p.F486fs	MFSD4_uc010prk.1_Frame_Shift_Del_p.F399fs|MFSD4_uc010prl.1_Non-coding_Transcript|MFSD4_uc010prm.1_Frame_Shift_Del_p.F431fs|MFSD4_uc009xbn.2_Non-coding_Transcript	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	486	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)	1	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)							431				0.62			167	102		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	205568346	205568346	9923	1	T	-	-	-	780	60	MFSD4	5	5
DSE	29940	broad.mit.edu	37	6	116756950	116756950	+	Frame_Shift_Del	DEL	T	-	-			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:116756950_116756950delT	uc011ebg.1	+	c.1376_1376delT	c.(1375-1377)ATCfs	p.I459fs	DSE_uc003pws.2_Frame_Shift_Del_p.I440fs|DSE_uc003pwt.2_Frame_Shift_Del_p.I440fs|DSE_uc003pwu.2_Frame_Shift_Del_p.I107fs	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	440					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)										0.53			33	29		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	116756950	116756950	4958	6	T	-	-	-	650	50	DSE	5	5
ZAN	7455	broad.mit.edu	37	7	100371476	100371477	+	Splice_Site_Ins	INS	-	G	G			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100371476_100371477insG	uc003uwj.2	+	c.5766_splice	c.e31+1	p.R1922_splice	ZAN_uc003uwk.2_Splice_Site_Ins_p.R1922_splice|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript|ZAN_uc011kke.1_Frame_Shift_Ins_p.F10fs	NM_003386	NP_003377			zonadhesin isoform 3						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.67			4	2		---	---	---	---	capture_indel		Splice_Site_Ins	INS	100371476	100371477	18096	7	-	G	G	G	832	64	ZAN	5	5
DOCK5	80005	broad.mit.edu	37	8	25265569	25265571	+	In_Frame_Del	DEL	GAG	-	-			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:25265569_25265571delGAG	uc003xeg.2	+	c.5164_5166delGAG	c.(5164-5166)GAGdel	p.E1723del	PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1723						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		Pancreas(145;34 1887 3271 10937 30165)								0.36			8	14		---	---	---	---	capture_indel		In_Frame_Del	DEL	25265569	25265571	4874	8	GAG	-	-	-	429	33	DOCK5	5	5
RAB14	51552	broad.mit.edu	37	9	123945668	123945671	+	Frame_Shift_Del	DEL	AATT	-	-			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:123945668_123945671delAATT	uc004blc.2	-	c.357_360delAATT	c.(355-360)ATAATTfs	p.I119fs		NM_016322	NP_057406	P61106	RAB14_HUMAN	GTPase Rab14	119_120					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity				0														0.39			110	172		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	123945668	123945671	13359	9	AATT	-	-	-	112	9	RAB14	5	5
ZNF658	26149	broad.mit.edu	37	9	40774257	40774257	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z061-01	TCGA-17-Z061-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:40774257_40774257delG	uc004abs.2	-	c.1018_1018delC	c.(1018-1020)CATfs	p.H340fs	ZNF658_uc010mmm.1_Frame_Shift_Del_p.H340fs|ZNF658_uc010mmn.1_Frame_Shift_Del_p.H340fs	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	340	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.40			52	78		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	40774257	40774257	18664	9	G	-	-	-	611	47	ZNF658	5	5
