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
XPNPEP1	7511	broad.mit.edu	37	10	111642213	111642213	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:111642213C>A	uc009xxt.1	-	c.1018G>T	c.(1018-1020)GCT>TCT	p.A340S	XPNPEP1_uc001kyp.1_Missense_Mutation_p.A297S|XPNPEP1_uc001kyq.1_Missense_Mutation_p.A226S|XPNPEP1_uc010qrb.1_Missense_Mutation_p.A340S|XPNPEP1_uc010qra.1_Missense_Mutation_p.A64S	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	297					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)										0.157609	50.214088	70.870174	29	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111642213	111642213	18025	10	C	A	A	A	325	25	XPNPEP1	2	2
GPAM	57678	broad.mit.edu	37	10	113920368	113920368	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:113920368T>C	uc009xxy.1	-	c.1753A>G	c.(1753-1755)ATC>GTC	p.I585V	GPAM_uc001kzp.2_Missense_Mutation_p.I585V|GPAM_uc001kzq.1_Missense_Mutation_p.I585V	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	585	Mitochondrial intermembrane (Potential).|Helical; (Potential).				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)	1				Epithelial(162;0.0306)|all cancers(201;0.123)		Ovarian(161;1017 2606 18293 52943)								0.296875	53.108171	55.464767	19	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113920368	113920368	6862	10	T	C	C	C	663	51	GPAM	4	4
KCNK18	338567	broad.mit.edu	37	10	118969655	118969656	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118969655_118969656CC>GT	uc010qsr.1	+	c.1000_1001CC>GT	c.(1000-1002)CCT>GTT	p.P334V		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	334						integral to membrane|plasma membrane					0		Colorectal(252;0.19)		all cancers(201;0.0211)										0.291667	112.553187	118.17996	42	102	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	118969655	118969656	8370	10	CC	GT	GT	GT	286	22	KCNK18	3	3
TRDMT1	1787	broad.mit.edu	37	10	17195622	17195622	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17195622T>C	uc001iop.2	-	c.959A>G	c.(958-960)TAC>TGC	p.Y320C	TRDMT1_uc001ioq.2_Missense_Mutation_p.Y296C|TRDMT1_uc001ior.2_Missense_Mutation_p.Y274C|TRDMT1_uc001ios.2_Missense_Mutation_p.Y249C|TRDMT1_uc009xjt.2_Missense_Mutation_p.Y239C|TRDMT1_uc010qcc.1_Missense_Mutation_p.Y249C|TRDMT1_uc010qcd.1_Missense_Mutation_p.Y197C	NM_004412	NP_004403	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1 isoform	320						nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding|tRNA (cytosine-5-)-methyltransferase activity			ovary(1)	1														0.411765	23.223227	23.338476	7	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17195622	17195622	17011	10	T	C	C	C	741	57	TRDMT1	4	4
SLC39A12	221074	broad.mit.edu	37	10	18289671	18289671	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18289671T>C	uc001ipo.2	+	c.1676T>C	c.(1675-1677)ATA>ACA	p.I559T	SLC39A12_uc001ipn.2_Missense_Mutation_p.I522T|SLC39A12_uc001ipp.2_Missense_Mutation_p.I558T|SLC39A12_uc010qck.1_Missense_Mutation_p.I425T	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	559	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.387097	72.252017	72.954333	24	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18289671	18289671	15112	10	T	C	C	C	637	49	SLC39A12	4	4
ZNF438	220929	broad.mit.edu	37	10	31137569	31137569	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:31137569C>T	uc010qdz.1	-	c.1765G>A	c.(1765-1767)GTG>ATG	p.V589M	ZNF438_uc001ivn.2_Missense_Mutation_p.V540M|ZNF438_uc010qdy.1_Missense_Mutation_p.V579M|ZNF438_uc001ivo.3_Missense_Mutation_p.V153M|ZNF438_uc009xlg.2_Missense_Mutation_p.V589M|ZNF438_uc001ivp.3_Missense_Mutation_p.V579M|ZNF438_uc010qea.1_Missense_Mutation_p.V589M|ZNF438_uc010qeb.1_Missense_Mutation_p.V589M|ZNF438_uc010qec.1_Missense_Mutation_p.V153M	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	589	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)												0.58	277.138725	277.974609	87	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31137569	31137569	18503	10	C	T	T	T	260	20	ZNF438	2	2
PCDH15	65217	broad.mit.edu	37	10	55587214	55587214	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55587214G>A	uc010qhy.1	-	c.4321C>T	c.(4321-4323)CCG>TCG	p.P1441S	PCDH15_uc010qhq.1_Missense_Mutation_p.P1441S|PCDH15_uc010qhr.1_Missense_Mutation_p.P1436S|PCDH15_uc010qhs.1_Missense_Mutation_p.P1448S|PCDH15_uc010qht.1_Missense_Mutation_p.P1443S|PCDH15_uc010qhu.1_Missense_Mutation_p.P1436S|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1433S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1396S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1365S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1436S|PCDH15_uc010qia.1_Missense_Mutation_p.P1414S|PCDH15_uc001jju.1_Missense_Mutation_p.P1436S|PCDH15_uc010qib.1_Missense_Mutation_p.P1411S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	1436	Poly-Pro.|Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.318182	15.602301	16.257331	7	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55587214	55587214	11931	10	G	A	A	A	559	43	PCDH15	2	2
PCDH15	65217	broad.mit.edu	37	10	55721652	55721652	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55721652C>A	uc010qhy.1	-	c.2884G>T	c.(2884-2886)GGA>TGA	p.G962*	PCDH15_uc010qhq.1_Nonsense_Mutation_p.G962*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.G957*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.G969*|PCDH15_uc010qht.1_Nonsense_Mutation_p.G964*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.G957*|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Nonsense_Mutation_p.G957*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.G920*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.G886*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.G957*|PCDH15_uc010qia.1_Nonsense_Mutation_p.G935*|PCDH15_uc001jju.1_Nonsense_Mutation_p.G957*|PCDH15_uc010qib.1_Nonsense_Mutation_p.G935*	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	957	Extracellular (Potential).|Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.4	28.153894	28.369521	10	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55721652	55721652	11931	10	C	A	A	A	286	22	PCDH15	5	2
PCDH15	65217	broad.mit.edu	37	10	55955474	55955474	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55955474C>G	uc010qhy.1	-	c.1289G>C	c.(1288-1290)AGA>ACA	p.R430T	PCDH15_uc010qhq.1_Missense_Mutation_p.R430T|PCDH15_uc010qhr.1_Missense_Mutation_p.R425T|PCDH15_uc010qhs.1_Missense_Mutation_p.R430T|PCDH15_uc010qht.1_Missense_Mutation_p.R425T|PCDH15_uc010qhu.1_Missense_Mutation_p.R425T|PCDH15_uc001jjv.1_Missense_Mutation_p.R403T|PCDH15_uc010qhv.1_Missense_Mutation_p.R425T|PCDH15_uc010qhw.1_Missense_Mutation_p.R388T|PCDH15_uc010qhx.1_Missense_Mutation_p.R425T|PCDH15_uc010qhz.1_Missense_Mutation_p.R425T|PCDH15_uc010qia.1_Missense_Mutation_p.R403T|PCDH15_uc001jju.1_Missense_Mutation_p.R425T|PCDH15_uc010qib.1_Missense_Mutation_p.R403T|PCDH15_uc001jjw.2_Missense_Mutation_p.R425T	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	425	Cadherin 4.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.152778	24.17756	32.482425	11	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55955474	55955474	11931	10	C	G	G	G	416	32	PCDH15	3	3
LRIT1	26103	broad.mit.edu	37	10	85991733	85991733	+	Nonsense_Mutation	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:85991733G>A	uc001kcz.1	-	c.1822C>T	c.(1822-1824)CAG>TAG	p.Q608*		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	608	Cytoplasmic (Potential).					integral to endoplasmic reticulum membrane					0														0.183673	17.660813	22.251046	9	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	85991733	85991733	9320	10	G	A	A	A	585	45	LRIT1	5	2
LARP4B	23185	broad.mit.edu	37	10	910104	910105	+	Missense_Mutation	DNP	CA	AT	AT			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:910104_910105CA>AT	uc001ifs.1	-	c.247_248TG>AT	c.(247-249)TGG>ATG	p.W83M		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	83							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3														0.658537	88.935765	89.845745	27	14	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	910104	910105	8954	10	CA	AT	AT	AT	273	21	LARP4B	2	2
PGR	5241	broad.mit.edu	37	11	100998942	100998942	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:100998942G>T	uc001pgh.2	-	c.860C>A	c.(859-861)GCG>GAG	p.A287E	PGR_uc001pgi.2_Missense_Mutation_p.A287E|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	287	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	Pancreas(124;2271 2354 21954 22882)				429				0.8	157.2241	162.243256	48	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100998942	100998942	12228	11	G	T	T	T	494	38	PGR	1	1
LDHC	3948	broad.mit.edu	37	11	18434300	18434300	+	Silent	SNP	A	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18434300A>G	uc001mon.3	+	c.36A>G	c.(34-36)CTA>CTG	p.L12L	LDHC_uc001mom.3_Silent_p.L12L|LDHC_uc009yhp.2_Silent_p.L12L|LDHC_uc001moo.3_5'UTR|LDHC_uc009yhq.2_Non-coding_Transcript|LDHC_uc009yhr.2_5'UTR	NM_017448	NP_059144	P07864	LDHC_HUMAN	L-lactate dehydrogenase C	12					glycolysis|oxidation-reduction process	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)									0.607843	108.235707	108.756486	31	20	KEEP	---	---	---	---	capture		Silent	SNP	18434300	18434300	9026	11	A	G	G	G	158	13	LDHC	4	4
NELL1	4745	broad.mit.edu	37	11	20968951	20968951	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20968951C>A	uc009yid.2	+	c.1225C>A	c.(1225-1227)CCT>ACT	p.P409T	NELL1_uc001mqe.2_Missense_Mutation_p.P381T|NELL1_uc001mqf.2_Missense_Mutation_p.P381T|NELL1_uc010rdo.1_Missense_Mutation_p.P324T|NELL1_uc010rdp.1_Missense_Mutation_p.P141T	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	381	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3														0.689655	121.611879	123.467625	40	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20968951	20968951	10732	11	C	A	A	A	390	30	NELL1	2	2
SCYL1	57410	broad.mit.edu	37	11	65305955	65305955	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65305955G>C	uc001oea.1	+	c.2345G>C	c.(2344-2346)CGG>CCG	p.R782P	SCYL1_uc009yqk.2_3'UTR|SCYL1_uc001oeb.1_Missense_Mutation_p.R765P|SCYL1_uc001oec.1_Missense_Mutation_p.G770R|SCYL1_uc001oed.1_Missense_Mutation_p.R639P|SCYL1_uc001oee.1_Missense_Mutation_p.G408R	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	782	Potential.				protein phosphorylation|regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1										387				0.571429	14.501945	14.53335	4	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65305955	65305955	14432	11	G	C	C	C	507	39	SCYL1	3	3
PC	5091	broad.mit.edu	37	11	66618624	66618624	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66618624T>C	uc001ojn.1	-	c.2110A>G	c.(2110-2112)ATC>GTC	p.I704V	PC_uc001ojo.1_Missense_Mutation_p.I704V|PC_uc001ojp.1_Missense_Mutation_p.I704V|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	704	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)									0.773333	178.940062	184.08555	58	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66618624	66618624	11917	11	T	C	C	C	663	51	PC	4	4
FAT3	120114	broad.mit.edu	37	11	92526040	92526040	+	Silent	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92526040G>A	uc001pdj.3	+	c.4719G>A	c.(4717-4719)GCG>GCA	p.A1573A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1573	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.132231	22.416215	38.314633	16	105	KEEP	---	---	---	---	capture		Silent	SNP	92526040	92526040	5927	11	G	A	A	A	509	40	FAT3	1	1
CKAP4	10970	broad.mit.edu	37	12	106632981	106632981	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:106632981T>C	uc001tlk.2	-	c.1630A>G	c.(1630-1632)AGC>GGC	p.S544G		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	544	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0														0.415385	154.783008	155.604906	54	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106632981	106632981	3580	12	T	C	C	C	715	55	CKAP4	4	4
ITPR2	3709	broad.mit.edu	37	12	26596529	26596529	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:26596529C>T	uc001rhg.2	-	c.6397G>A	c.(6397-6399)GAT>AAT	p.D2133N	ITPR2_uc009zjg.1_Missense_Mutation_p.D284N	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2133	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	13	Colorectal(261;0.0847)									1600				0.387097	37.395916	37.741141	12	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26596529	26596529	8225	12	C	T	T	T	416	32	ITPR2	2	2
PDZRN4	29951	broad.mit.edu	37	12	41967041	41967041	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41967041G>T	uc010skn.1	+	c.1863G>T	c.(1861-1863)GAG>GAT	p.E621D	PDZRN4_uc001rmq.3_Missense_Mutation_p.E562D|PDZRN4_uc009zjz.2_Missense_Mutation_p.E560D|PDZRN4_uc001rmr.2_Missense_Mutation_p.E447D	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	820							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	8	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)								467				0.412844	249.592404	251.042565	90	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41967041	41967041	12131	12	G	T	T	T	425	33	PDZRN4	2	2
ADAMTS20	80070	broad.mit.edu	37	12	43825245	43825245	+	Missense_Mutation	SNP	T	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43825245T>G	uc010skx.1	-	c.3151A>C	c.(3151-3153)AAT>CAT	p.N1051H	ADAMTS20_uc001rno.1_Missense_Mutation_p.N205H|ADAMTS20_uc001rnp.1_Missense_Mutation_p.N205H	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1051	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)						2149				0.239437	48.363076	52.747392	17	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43825245	43825245	267	12	T	G	G	G	806	62	ADAMTS20	4	4
FAM186B	84070	broad.mit.edu	37	12	49998266	49998266	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49998266C>T	uc001ruo.2	-	c.152G>A	c.(151-153)CGC>CAC	p.R51H	FAM186B_uc010smk.1_5'UTR	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	51						protein complex				ovary(1)	1														0.12	11.123331	21.747142	9	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49998266	49998266	5722	12	C	T	T	T	351	27	FAM186B	1	1
SLC4A8	9498	broad.mit.edu	37	12	51868922	51868922	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51868922T>A	uc001rys.1	+	c.2104T>A	c.(2104-2106)TTT>ATT	p.F702I	SLC4A8_uc001rym.2_Missense_Mutation_p.F649I|SLC4A8_uc001ryn.2_Missense_Mutation_p.F649I|SLC4A8_uc001ryo.2_Missense_Mutation_p.F649I|SLC4A8_uc010snj.1_Missense_Mutation_p.F729I|SLC4A8_uc001ryr.2_Missense_Mutation_p.F702I|SLC4A8_uc010snk.1_Missense_Mutation_p.F649I	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	702	Helical; (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.15)										0.147368	23.688578	35.034283	14	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51868922	51868922	15156	12	T	A	A	A	728	56	SLC4A8	3	3
KRT79	338785	broad.mit.edu	37	12	53223860	53223860	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53223860T>C	uc001sbb.2	-	c.802A>G	c.(802-804)AAA>GAA	p.K268E	KRT79_uc001sba.2_Missense_Mutation_p.K39E	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	268	Rod.|Coil 1B.					keratin filament	structural molecule activity			ovary(2)	2														0.169811	37.38671	48.319847	18	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53223860	53223860	8807	12	T	C	C	C	819	63	KRT79	4	4
VWF	7450	broad.mit.edu	37	12	6059022	6059022	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6059022G>A	uc001qnn.1	-	c.8183C>T	c.(8182-8184)ACT>ATT	p.T2728I	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2728	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7					Antihemophilic Factor(DB00025)									0.102564	8.811264	27.231224	12	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6059022	6059022	17818	12	G	A	A	A	468	36	VWF	2	2
IFNG	3458	broad.mit.edu	37	12	68549134	68549134	+	Nonstop_Mutation	SNP	T	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:68549134T>A	uc001stw.1	-	c.500A>T	c.(499-501)TAA>TTA	p.*167L		NM_000619	NP_000610	P01579	IFNG_HUMAN	interferon, gamma precursor	167					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)					63				0.222222	8.891659	10.168617	4	14	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	68549134	68549134	7849	12	T	A	A	A	790	61	IFNG	5	3
KCNC2	3747	broad.mit.edu	37	12	75444442	75444442	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:75444442C>A	uc001sxg.1	-	c.1343G>T	c.(1342-1344)TGG>TTG	p.W448L	KCNC2_uc009zry.2_Missense_Mutation_p.W448L|KCNC2_uc001sxe.2_Missense_Mutation_p.W448L|KCNC2_uc001sxf.2_Missense_Mutation_p.W448L|KCNC2_uc010stw.1_Missense_Mutation_p.W448L	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	448					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6														0.264151	33.820517	36.490257	14	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75444442	75444442	8320	12	C	A	A	A	273	21	KCNC2	2	2
C12orf63	374467	broad.mit.edu	37	12	97158873	97158873	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:97158873G>T	uc001tet.1	+	c.3433G>T	c.(3433-3435)GCA>TCA	p.A1145S		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	1145										ovary(1)	1														0.442308	67.220639	67.370685	23	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97158873	97158873	1750	12	G	T	T	T	546	42	C12orf63	2	2
FNDC3A	22862	broad.mit.edu	37	13	49752748	49752748	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:49752748C>A	uc001vcm.2	+	c.1575C>A	c.(1573-1575)TAC>TAA	p.Y525*	FNDC3A_uc001vcn.2_Nonsense_Mutation_p.Y525*|FNDC3A_uc001vco.2_Non-coding_Transcript|FNDC3A_uc001vcp.1_Nonsense_Mutation_p.Y451*|FNDC3A_uc001vcq.2_Nonsense_Mutation_p.Y469*	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	525	Fibronectin type-III 3.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)										0.53125	54.002363	54.032869	17	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	49752748	49752748	6211	13	C	A	A	A	220	17	FNDC3A	5	2
DACH1	1602	broad.mit.edu	37	13	72255950	72255950	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:72255950G>T	uc010thn.1	-	c.941C>A	c.(940-942)TCT>TAT	p.S314Y	DACH1_uc010tho.1_Missense_Mutation_p.S314Y|DACH1_uc010thp.1_Missense_Mutation_p.S314Y	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	314	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)						202				0.363636	21.592337	21.952928	8	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72255950	72255950	4386	13	G	T	T	T	429	33	DACH1	2	2
AHNAK2	113146	broad.mit.edu	37	14	105407783	105407783	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105407783C>T	uc010axc.1	-	c.14005G>A	c.(14005-14007)GAA>AAA	p.E4669K	AHNAK2_uc001ypx.2_Missense_Mutation_p.E4569K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4669						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.272727	30.580383	32.629168	12	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105407783	105407783	418	14	C	T	T	T	390	30	AHNAK2	2	2
MYH7	4625	broad.mit.edu	37	14	23899060	23899060	+	Silent	SNP	G	T	T	rs735712	byFrequency;by1000genomes	TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23899060G>T	uc001wjx.2	-	c.1062C>A	c.(1060-1062)GGC>GGA	p.G354G		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	354	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)										0.397059	162.45769	163.706352	54	82	KEEP	---	---	---	---	capture		Silent	SNP	23899060	23899060	10434	14	G	T	T	T	483	38	MYH7	1	1
FSCB	84075	broad.mit.edu	37	14	44973886	44973886	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:44973886G>A	uc001wvn.2	-	c.2305C>T	c.(2305-2307)CCA>TCA	p.P769S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	769						cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)						151				0.183908	33.550187	41.704946	16	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44973886	44973886	6316	14	G	A	A	A	533	41	FSCB	2	2
CNIH	10175	broad.mit.edu	37	14	54896978	54896978	+	Splice_Site_SNP	SNP	C	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:54896978C>G	uc001xat.1	-	c.407_splice	c.e4+1	p.G136_splice	CNIH_uc001xav.1_Intron	NM_005776	NP_005767			cornichon-like						immune response|intracellular signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane					0				GBM - Glioblastoma multiforme(112;0.00341)										0.2	15.932831	18.443599	6	24	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	54896978	54896978	3740	14	C	G	G	G	234	18	CNIH	5	3
DACT1	51339	broad.mit.edu	37	14	59113521	59113521	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:59113521C>A	uc001xdw.2	+	c.2180C>A	c.(2179-2181)TCG>TAG	p.S727*	DACT1_uc010trv.1_Nonsense_Mutation_p.S446*|DACT1_uc001xdx.2_Nonsense_Mutation_p.S690*|DACT1_uc010trw.1_Nonsense_Mutation_p.S446*	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	727					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5														0.525773	148.46028	148.512799	51	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	59113521	59113521	4388	14	C	A	A	A	403	31	DACT1	5	1
WDR89	112840	broad.mit.edu	37	14	64065716	64065716	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64065716G>C	uc001xgh.2	-	c.945C>G	c.(943-945)AGC>AGG	p.S315R	WDR89_uc001xgi.2_Missense_Mutation_p.S315R	NM_001008726	NP_001008726	Q96FK6	WDR89_HUMAN	WD repeat domain 89	315											0				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)										0.484375	106.52272	106.53622	31	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64065716	64065716	17910	14	G	C	C	C	542	42	WDR89	3	3
MAP3K9	4293	broad.mit.edu	37	14	71267478	71267478	+	Silent	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71267478C>A	uc001xml.2	-	c.726G>T	c.(724-726)CTG>CTT	p.L242L	MAP3K9_uc001xmm.2_Silent_p.L242L	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	242	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GBM(114;411 1587 13539 28235 50070)				190				0.254902	65.59878	71.160374	26	76	KEEP	---	---	---	---	capture		Silent	SNP	71267478	71267478	9640	14	C	A	A	A	262	21	MAP3K9	2	2
PCNX	22990	broad.mit.edu	37	14	71444881	71444881	+	Silent	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71444881T>C	uc001xmo.2	+	c.1827T>C	c.(1825-1827)AGT>AGC	p.S609S	PCNX_uc001xmn.3_Silent_p.S609S|PCNX_uc010are.1_Silent_p.S609S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	609	Ser-rich.					integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)										0.513514	132.758244	132.770302	38	36	KEEP	---	---	---	---	capture		Silent	SNP	71444881	71444881	12011	14	T	C	C	C	738	57	PCNX	4	4
RGS6	9628	broad.mit.edu	37	14	72945023	72945023	+	Silent	SNP	C	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:72945023C>G	uc010ttp.1	+	c.633C>G	c.(631-633)TCC>TCG	p.S211S	RGS6_uc010ttn.1_Silent_p.S280S|RGS6_uc001xna.3_Silent_p.S280S|RGS6_uc001xmx.3_Silent_p.S280S|RGS6_uc010tto.1_Non-coding_Transcript|RGS6_uc001xmy.3_Silent_p.S280S|RGS6_uc001xmz.1_Silent_p.S141S	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	280	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)	2				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		Ovarian(143;1926 2468 21071 48641)								0.2	7.716061	8.971737	3	12	KEEP	---	---	---	---	capture		Silent	SNP	72945023	72945023	13783	14	C	G	G	G	262	21	RGS6	3	3
MKRN3	7681	broad.mit.edu	37	15	23810997	23810997	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23810997C>T	uc001ywh.3	+	c.68C>T	c.(67-69)GCA>GTA	p.A23V	MKRN3_uc001ywi.2_Missense_Mutation_p.A23V|MKRN3_uc010ayi.1_Missense_Mutation_p.A23V	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	23						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				0.527778	106.64033	106.688354	38	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23810997	23810997	9998	15	C	T	T	T	325	25	MKRN3	2	2
LTK	4058	broad.mit.edu	37	15	41799788	41799788	+	Silent	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:41799788G>A	uc001zoa.3	-	c.1317C>T	c.(1315-1317)CTC>CTT	p.L439L	LTK_uc001zob.3_Silent_p.L378L|LTK_uc010ucx.1_Silent_p.L378L|LTK_uc010bcg.2_Silent_p.L121L	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	439	Helical; (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)						314	TSP Lung(18;0.14)			0.657143	73.428997	74.191414	23	12	KEEP	---	---	---	---	capture		Silent	SNP	41799788	41799788	9456	15	G	A	A	A	522	41	LTK	2	2
CSNK1G1	53944	broad.mit.edu	37	15	64495340	64495340	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:64495340T>C	uc002anh.1	-	c.1048A>G	c.(1048-1050)ACT>GCT	p.T350A	CSNK1G1_uc002ane.2_Non-coding_Transcript|CSNK1G1_uc002anf.2_Missense_Mutation_p.T350A|CSNK1G1_uc002ang.1_Missense_Mutation_p.T350A|CSNK1G1_uc002anj.2_Missense_Mutation_p.T332A	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	350					protein phosphorylation|Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0										222				0.732143	147.339855	150.045176	41	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64495340	64495340	4095	15	T	C	C	C	780	60	CSNK1G1	4	4
RPL4	6124	broad.mit.edu	37	15	66795413	66795413	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:66795413G>C	uc002apv.2	-	c.265C>G	c.(265-267)CAG>GAG	p.Q89E	RPL4_uc010bhr.2_5'UTR|RPL4_uc002apw.2_Intron|RPL4_uc002apx.2_5'UTR|RPL4_uc010ujq.1_Missense_Mutation_p.Q89E|SNORD18C_uc010bhs.1_5'Flank|SNORD18B_uc002apy.1_5'Flank|SNORD16_uc010bht.2_5'Flank|ZWILCH_uc010bhu.1_5'Flank|ZWILCH_uc002aqb.2_5'Flank|ZWILCH_uc002aqa.2_5'Flank|ZWILCH_uc010bhv.2_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	ribosomal protein L4	89					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0														0.291667	40.731167	42.596762	14	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66795413	66795413	14074	15	G	C	C	C	611	47	RPL4	3	3
FAM154B	283726	broad.mit.edu	37	15	82574915	82574915	+	Nonsense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:82574915G>T	uc002bgv.2	+	c.709G>T	c.(709-711)GAG>TAG	p.E237*	FAM154B_uc010unr.1_Nonsense_Mutation_p.E222*|FAM154B_uc010uns.1_Non-coding_Transcript	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	237											0														0.112903	6.576409	15.751425	7	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	82574915	82574915	5662	15	G	T	T	T	429	33	FAM154B	5	2
C15orf42	90381	broad.mit.edu	37	15	90168849	90168849	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90168849T>A	uc002boe.2	+	c.5308T>A	c.(5308-5310)TTG>ATG	p.L1770M	C15orf42_uc010upv.1_Non-coding_Transcript	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1770					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|response to ionizing radiation|S-M checkpoint	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)	6	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)											0.315315	90.360664	93.743057	35	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90168849	90168849	1846	15	T	A	A	A	777	60	C15orf42	3	3
GRIN2A	2903	broad.mit.edu	37	16	10032335	10032336	+	Missense_Mutation	DNP	TG	CT	CT			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:10032335_10032336TG>CT	uc002czo.3	-	c.487_488CA>AG	c.(487-489)CAG>AGG	p.Q163R	GRIN2A_uc010uym.1_Missense_Mutation_p.Q163R|GRIN2A_uc010uyn.1_Missense_Mutation_p.Q6R|GRIN2A_uc002czr.3_Missense_Mutation_p.Q163R	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	163	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.343284	150.60646	153.515059	46	88	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	10032335	10032336	7058	16	TG	CT	CT	CT	715	55	GRIN2A	4	4
TXNDC11	51061	broad.mit.edu	37	16	11827847	11827847	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:11827847T>C	uc010buu.1	-	c.560A>G	c.(559-561)TAT>TGT	p.Y187C	TXNDC11_uc002dbg.1_Missense_Mutation_p.Y187C	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	187	Thioredoxin 1.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0														0.433333	39.366894	39.483612	13	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11827847	11827847	17348	16	T	C	C	C	637	49	TXNDC11	4	4
BAIAP3	8938	broad.mit.edu	37	16	1392740	1392740	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1392740G>T	uc002clk.1	+	c.1191G>T	c.(1189-1191)CAG>CAT	p.Q397H	BAIAP3_uc002clj.2_Missense_Mutation_p.Q379H|BAIAP3_uc010uuz.1_Missense_Mutation_p.Q362H|BAIAP3_uc010uva.1_Missense_Mutation_p.Q334H|BAIAP3_uc010uvc.1_Missense_Mutation_p.Q326H	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	397					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)												0.215686	21.491575	25.30309	11	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1392740	1392740	1325	16	G	T	T	T	438	34	BAIAP3	2	2
KIAA0430	9665	broad.mit.edu	37	16	15729639	15729639	+	Silent	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:15729639C>T	uc002ddr.2	-	c.705G>A	c.(703-705)GGG>GGA	p.G235G	KIAA0430_uc002ddq.2_Silent_p.G234G|KIAA0430_uc010uzv.1_Silent_p.G234G|KIAA0430_uc010uzw.1_Silent_p.G234G|KIAA0430_uc010uzx.1_Silent_p.G234G	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	234						peroxisome	nucleotide binding|RNA binding				0														0.383562	76.680168	77.547114	28	45	KEEP	---	---	---	---	capture		Silent	SNP	15729639	15729639	8484	16	C	T	T	T	327	26	KIAA0430	2	2
LUC7L	55692	broad.mit.edu	37	16	242974	242974	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:242974C>T	uc002cgc.1	-	c.728G>A	c.(727-729)CGC>CAC	p.R243H	LUC7L_uc002cga.1_Missense_Mutation_p.R243H|LUC7L_uc002cgd.1_Non-coding_Transcript|LUC7L_uc002cge.1_Missense_Mutation_p.R243H|LUC7L_uc002cgb.1_Missense_Mutation_p.R157H	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	LUC7-like isoform b	243	Potential.|Arg/Ser-rich.						metal ion binding			central_nervous_system(1)	1		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)												0.313492	215.107128	222.924775	79	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242974	242974	9458	16	C	T	T	T	351	27	LUC7L	1	1
AXIN1	8312	broad.mit.edu	37	16	343556	343556	+	Silent	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:343556C>T	uc002cgp.1	-	c.2118G>A	c.(2116-2118)CAG>CAA	p.Q706Q	AXIN1_uc002cgq.1_Silent_p.Q706Q	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	706	Interaction with RNF111.|Interaction with PPP2CA.|Interaction with HIPK2 (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of gene-specific transcription elongation from RNA polymerase II promoter|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			liver(1)	1		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)								659				0.378995	235.7994	238.602063	83	136	KEEP	---	---	---	---	capture		Silent	SNP	343556	343556	1257	16	C	T	T	T	363	28	AXIN1	2	2
C16orf5	29965	broad.mit.edu	37	16	4563767	4563767	+	Silent	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:4563767C>A	uc002cwu.2	-	c.171G>T	c.(169-171)CCG>CCT	p.P57P	C16orf5_uc002cwv.2_Silent_p.P57P|C16orf5_uc002cww.2_Silent_p.P57P|C16orf5_uc010uxl.1_Silent_p.P57P|C16orf5_uc010uxm.1_Intron|C16orf5_uc010btu.2_Non-coding_Transcript	NM_013399	NP_037531	Q9H305	LITFL_HUMAN	cell death inducing protein	57	Pro-rich.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|tumor necrosis factor-mediated signaling pathway	nucleus				ovary(1)	1		Ovarian(90;0.17)												0.42953	198.7778	199.422253	64	85	KEEP	---	---	---	---	capture		Silent	SNP	4563767	4563767	1869	16	C	A	A	A	288	23	C16orf5	1	1
HEATR3	55027	broad.mit.edu	37	16	50134194	50134194	+	Missense_Mutation	SNP	T	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50134194T>G	uc002efw.2	+	c.1653T>G	c.(1651-1653)AGT>AGG	p.S551R	HEATR3_uc002efx.2_Missense_Mutation_p.S465R	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	551							binding			ovary(1)	1														0.333333	61.075721	62.553914	20	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50134194	50134194	7312	16	T	G	G	G	738	57	HEATR3	4	4
RPGRIP1L	23322	broad.mit.edu	37	16	53682886	53682886	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:53682886T>C	uc002ehp.2	-	c.2294A>G	c.(2293-2295)CAT>CGT	p.H765R	RPGRIP1L_uc002eho.3_Missense_Mutation_p.H765R|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.H765R|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.H765R|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.H765R	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	765					negative regulation of G-protein coupled receptor protein signaling pathway	centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)												0.406977	107.803541	108.454897	35	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53682886	53682886	14029	16	T	C	C	C	663	51	RPGRIP1L	4	4
HSF4	3299	broad.mit.edu	37	16	67200263	67200263	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67200263C>G	uc002erl.1	+	c.526C>G	c.(526-528)CAG>GAG	p.Q176E	HSF4_uc002erm.1_Missense_Mutation_p.Q176E|HSF4_uc002ern.1_Non-coding_Transcript|HSF4_uc010cec.1_Non-coding_Transcript	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	176	Hydrophobic repeat HR-A/B.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)										0.291667	17.017587	17.949903	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67200263	67200263	7693	16	C	G	G	G	325	25	HSF4	3	3
CDT1	81620	broad.mit.edu	37	16	88871952	88871952	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:88871952G>T	uc002flu.2	+	c.593G>T	c.(592-594)CGC>CTC	p.R198L		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	198					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		Melanoma(159;511 3380 30971)								0.430464	195.298395	195.923634	65	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88871952	88871952	3309	16	G	T	T	T	494	38	CDT1	1	1
MYH8	4626	broad.mit.edu	37	17	10297637	10297637	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10297637C>A	uc002gmm.2	-	c.5095G>T	c.(5095-5097)GAG>TAG	p.E1699*		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1699	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.617978	163.429903	164.513977	55	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10297637	10297637	10436	17	C	A	A	A	416	32	MYH8	5	2
MYH2	4620	broad.mit.edu	37	17	10424643	10424643	+	Missense_Mutation	SNP	C	A	A	rs34161789	byFrequency	TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10424643C>A	uc010coi.2	-	c.5780G>T	c.(5779-5781)CGG>CTG	p.R1927L	MYH1_uc002gmo.2_5'Flank|MYH2_uc002gmp.3_Missense_Mutation_p.R1927L|MYH2_uc010coj.2_Missense_Mutation_p.R694L	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1927	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.623529	178.295219	179.434573	53	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10424643	10424643	10430	17	C	A	A	A	299	23	MYH2	1	1
MARCH10	162333	broad.mit.edu	37	17	60814179	60814179	+	Missense_Mutation	SNP	A	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60814179A>C	uc010dds.2	-	c.1164T>G	c.(1162-1164)AGT>AGG	p.S388R	MARCH10_uc010ddr.2_Missense_Mutation_p.S350R|MARCH10_uc002jag.3_Missense_Mutation_p.S350R|MARCH10_uc002jah.2_Missense_Mutation_p.S349R	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	ring finger protein 190	350							ligase activity|zinc ion binding				0														0.254808	140.450532	151.824678	53	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60814179	60814179	9682	17	A	C	C	C	128	10	MARCH10	4	4
HELZ	9931	broad.mit.edu	37	17	65103287	65103287	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:65103287C>T	uc010wqk.1	-	c.5242G>A	c.(5242-5244)GAG>AAG	p.E1748K	HELZ_uc002jfv.3_Non-coding_Transcript|HELZ_uc002jfx.3_Missense_Mutation_p.E1747K	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)													0.477273	130.444383	130.48395	42	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65103287	65103287	7332	17	C	T	T	T	416	32	HELZ	2	2
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577097C>A	uc002gim.2	-	c.841G>T	c.(841-843)GAC>TAC	p.D281Y	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.D281Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D149Y|TP53_uc010cng.1_Missense_Mutation_p.D149Y|TP53_uc002gii.1_Missense_Mutation_p.D149Y|TP53_uc010cnh.1_Missense_Mutation_p.D281Y|TP53_uc010cni.1_Missense_Mutation_p.D281Y|TP53_uc002gij.2_Missense_Mutation_p.D281Y	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	281	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		D -> Y (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> A (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; 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.D281H(19)|p.D281N(18)|p.0?(6)|p.D281Y(5)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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	p.D281Y(KURAMOCHI-Tumor)|p.V274fs(SCC9-Tumor)|p.D281N(SNU201-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.673913	95.834338	97.066543	31	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577097	7577097	16923	17	C	A	A	A	416	32	TP53	2	2
TNRC6C	57690	broad.mit.edu	37	17	76060902	76060902	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:76060902C>T	uc002juf.2	+	c.2486C>T	c.(2485-2487)GCA>GTA	p.A829V	TNRC6C_uc002jud.2_Missense_Mutation_p.A832V|TNRC6C_uc002jue.2_Missense_Mutation_p.A829V	NM_001142640	NP_001136112	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 1	832	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)											0.487805	56.80431	56.809259	20	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76060902	76060902	16883	17	C	T	T	T	325	25	TNRC6C	2	2
CBX2	84733	broad.mit.edu	37	17	77755587	77755587	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77755587G>A	uc002jxc.2	+	c.275G>A	c.(274-276)CGC>CAC	p.R92H	CBX2_uc002jxb.1_Missense_Mutation_p.R92H	NM_005189	NP_005180	Q14781	CBX2_HUMAN	chromobox homolog 2 isoform 1	92	Ser-rich.				cell differentiation|chromatin assembly or disassembly|chromatin modification|development of primary sexual characteristics|transcription, DNA-dependent		DNA binding|transcription repressor activity				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)											0.268041	61.216727	65.923809	26	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77755587	77755587	2837	17	G	A	A	A	494	38	CBX2	1	1
SPIRE1	56907	broad.mit.edu	37	18	12506572	12506572	+	Silent	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:12506572C>A	uc002kre.2	-	c.876G>T	c.(874-876)CGG>CGT	p.R292R	SPIRE1_uc002krc.2_Non-coding_Transcript|SPIRE1_uc010wzw.1_Silent_p.R172R|SPIRE1_uc010wzx.1_Silent_p.R95R|SPIRE1_uc010wzy.1_Silent_p.R292R	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	292						cytoskeleton|perinuclear region of cytoplasm	actin binding|zinc ion binding				0														0.252874	54.937524	59.743259	22	65	KEEP	---	---	---	---	capture		Silent	SNP	12506572	12506572	15584	18	C	A	A	A	327	26	SPIRE1	2	2
KLHL14	57565	broad.mit.edu	37	18	30349754	30349754	+	Silent	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:30349754G>T	uc002kxm.1	-	c.801C>A	c.(799-801)GCC>GCA	p.A267A		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	267	BACK.									ovary(1)	1														0.338983	54.783493	56.135149	20	39	KEEP	---	---	---	---	capture		Silent	SNP	30349754	30349754	8682	18	G	T	T	T	548	43	KLHL14	2	2
C18orf34	374864	broad.mit.edu	37	18	30804833	30804833	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:30804833A>G	uc010xbr.1	-	c.1724T>C	c.(1723-1725)ATA>ACA	p.I575T	C18orf34_uc010dme.1_Missense_Mutation_p.I89T|C18orf34_uc002kxn.2_Missense_Mutation_p.I575T|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.I575T|C18orf34_uc002kxp.2_Missense_Mutation_p.I575T	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	575										ovary(1)	1														0.375	28.67065	28.999278	9	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30804833	30804833	1963	18	A	G	G	G	208	16	C18orf34	4	4
DCC	1630	broad.mit.edu	37	18	50278670	50278670	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:50278670G>C	uc002lfe.1	+	c.338G>C	c.(337-339)GGA>GCA	p.G113A	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	113	Extracellular (Potential).|Ig-like C2-type 1.				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)										0.588235	73.806889	74.038124	20	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50278670	50278670	4453	18	G	C	C	C	533	41	DCC	3	3
SMARCA4	6597	broad.mit.edu	37	19	11135100	11135100	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11135100G>C	uc010dxo.2	+	c.3067G>C	c.(3067-3069)GAG>CAG	p.E1023Q	SMARCA4_uc002mqf.3_Missense_Mutation_p.E1023Q|SMARCA4_uc010dxp.2_Missense_Mutation_p.E1023Q|SMARCA4_uc002mqg.1_Missense_Mutation_p.E1023Q|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1023Q|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1023Q|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1023Q|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1023Q|SMARCA4_uc010dxt.1_Missense_Mutation_p.E243Q|SMARCA4_uc002mqh.3_Missense_Mutation_p.E146Q|SMARCA4_uc002mqi.1_Missense_Mutation_p.E226Q	NM_001128849	NP_001122321	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1023					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of S phase of mitotic cell cycle|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription activator activity|transcription corepressor activity	p.?(1)		lung(29)|ovary(7)|pancreas(7)|large_intestine(5)|prostate(3)|central_nervous_system(2)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|skin(1)|autonomic_ganglia(1)|kidney(1)	61		all_lung(6;0.0512)|Lung NSC(9;0.0568)								582				0.511628	78.314893	78.322775	22	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11135100	11135100	15268	19	G	C	C	C	481	37	SMARCA4	3	3
STK11	6794	broad.mit.edu	37	19	1220629	1220629	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1220629C>T	uc002lrl.1	+	c.647C>T	c.(646-648)TCC>TTC	p.S216F		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	216	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|protein phosphorylation|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.S216F(2)		lung(162)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|ovary(4)|stomach(3)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|breast(1)|oesophagus(1)|prostate(1)|kidney(1)	252		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)				14		1341	TSP Lung(3;<1E-8)			0.727273	25.403961	25.916651	8	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1220629	1220629	15807	19	C	T	T	T	390	30	STK11	2	2
STK11	6794	broad.mit.edu	37	19	1220706	1220706	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1220706G>T	uc002lrl.1	+	c.724G>T	c.(724-726)GGG>TGG	p.G242W		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	242	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|protein phosphorylation|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.G242R(1)		lung(162)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|ovary(4)|stomach(3)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|breast(1)|oesophagus(1)|prostate(1)|kidney(1)	252		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)				14		1341	TSP Lung(3;<1E-8)			0.655172	56.067861	56.668149	19	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1220706	1220706	15807	19	G	T	T	T	611	47	STK11	2	2
MAN2B1	4125	broad.mit.edu	37	19	12761005	12761005	+	Missense_Mutation	SNP	A	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12761005A>C	uc002mub.2	-	c.2078T>G	c.(2077-2079)TTC>TGC	p.F693C	MAN2B1_uc010dyv.1_Missense_Mutation_p.F692C	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	693					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6														0.696552	370.028205	375.030532	101	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12761005	12761005	9599	19	A	C	C	C	117	9	MAN2B1	4	4
UNC13A	23025	broad.mit.edu	37	19	17746954	17746954	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17746954C>T	uc002nhd.2	-	c.3358G>A	c.(3358-3360)GAA>AAA	p.E1120K		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1032					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3														0.727273	26.704417	27.216297	8	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17746954	17746954	17542	19	C	T	T	T	390	30	UNC13A	2	2
DLL3	10683	broad.mit.edu	37	19	39991296	39991296	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39991296A>T	uc002olx.2	+	c.393A>T	c.(391-393)TTA>TTT	p.L131F	DLL3_uc010egq.2_Missense_Mutation_p.L131F|DLL3_uc002olw.2_Missense_Mutation_p.L131F	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	131	Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)											0.658537	85.731897	86.641928	27	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39991296	39991296	4747	19	A	T	T	T	193	15	DLL3	3	3
PHLDB3	653583	broad.mit.edu	37	19	44006275	44006275	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44006275T>A	uc002own.3	-	c.374A>T	c.(373-375)CAG>CTG	p.Q125L	PHLDB3_uc002owo.2_Missense_Mutation_p.Q125L	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B,	125	Potential.										0		Prostate(69;0.0153)												0.428571	9.645503	9.671355	3	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44006275	44006275	12277	19	T	A	A	A	715	55	PHLDB3	3	3
PEG3	5178	broad.mit.edu	37	19	57327504	57327504	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57327504T>C	uc002qnu.2	-	c.2306A>G	c.(2305-2307)TAT>TGT	p.Y769C	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Y740C|PEG3_uc002qnv.2_Missense_Mutation_p.Y769C|PEG3_uc002qnw.2_Missense_Mutation_p.Y645C|PEG3_uc002qnx.2_Missense_Mutation_p.Y643C|PEG3_uc010etr.2_Missense_Mutation_p.Y769C	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	769					apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)										0.709459	372.907107	378.719651	105	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57327504	57327504	12141	19	T	C	C	C	637	49	PEG3	4	4
ZNF530	348327	broad.mit.edu	37	19	58111475	58111475	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58111475G>T	uc002qpk.2	+	c.3G>T	c.(1-3)ATG>ATT	p.M1I	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_Non-coding_Transcript	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)										0.5	7.321612	7.321612	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58111475	58111475	18565	19	G	T	T	T	611	47	ZNF530	2	2
COL11A1	1301	broad.mit.edu	37	1	103477982	103477982	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103477982C>A	uc001dum.2	-	c.1652G>T	c.(1651-1653)AGA>ATA	p.R551I	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dul.2_Missense_Mutation_p.R539I|COL11A1_uc001dun.2_Missense_Mutation_p.R500I|COL11A1_uc009weh.2_Missense_Mutation_p.R423I	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	539	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.190476	7.886587	9.768595	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103477982	103477982	3805	1	C	A	A	A	416	32	COL11A1	2	2
COL11A1	1301	broad.mit.edu	37	1	103544261	103544261	+	Silent	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103544261G>T	uc001dum.2	-	c.441C>A	c.(439-441)GCC>GCA	p.A147A	COL11A1_uc001dul.2_Silent_p.A147A|COL11A1_uc001dun.2_Silent_p.A147A|COL11A1_uc009weh.2_Silent_p.A147A	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	147	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.411765	20.483512	20.581502	7	10	KEEP	---	---	---	---	capture		Silent	SNP	103544261	103544261	3805	1	G	T	T	T	548	43	COL11A1	2	2
ZNF687	57592	broad.mit.edu	37	1	151259952	151259952	+	Silent	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151259952G>A	uc001exq.2	+	c.1185G>A	c.(1183-1185)AGG>AGA	p.R395R	ZNF687_uc001exp.1_Silent_p.R404R|ZNF687_uc009wmo.2_Silent_p.R395R|ZNF687_uc009wmp.2_Silent_p.R395R	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)											0.271028	70.249272	75.296813	29	78	KEEP	---	---	---	---	capture		Silent	SNP	151259952	151259952	18687	1	G	A	A	A	542	42	ZNF687	2	2
FLG	2312	broad.mit.edu	37	1	152286349	152286349	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152286349G>T	uc001ezu.1	-	c.1013C>A	c.(1012-1014)TCC>TAC	p.S338Y		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	338	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.416667	330.696217	332.428033	120	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152286349	152286349	6160	1	G	T	T	T	533	41	FLG	2	2
TDRD10	126668	broad.mit.edu	37	1	154516513	154516513	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154516513G>T	uc009wow.2	+	c.578G>T	c.(577-579)CGT>CTT	p.R193L	TDRD10_uc001ffd.2_Missense_Mutation_p.R193L|TDRD10_uc001ffe.2_Missense_Mutation_p.R114L	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	193							nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)											0.390244	242.166175	244.324659	80	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154516513	154516513	16257	1	G	T	T	T	520	40	TDRD10	1	1
RIT1	6016	broad.mit.edu	37	1	155874285	155874285	+	Missense_Mutation	SNP	A	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155874285A>C	uc001fmh.1	-	c.246T>G	c.(244-246)TTT>TTG	p.F82L	RIT1_uc010pgr.1_Missense_Mutation_p.F46L	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	82					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)											0.414634	59.173812	59.433066	17	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155874285	155874285	13863	1	A	C	C	C	167	13	RIT1	4	4
ARHGEF2	9181	broad.mit.edu	37	1	155935547	155935547	+	Silent	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155935547G>A	uc001fmu.2	-	c.480C>T	c.(478-480)ACC>ACT	p.T160T	ARHGEF2_uc001fmr.2_Silent_p.T88T|ARHGEF2_uc001fms.2_Silent_p.T115T|ARHGEF2_uc001fmt.2_Silent_p.T115T|ARHGEF2_uc010pgt.1_Silent_p.T88T|ARHGEF2_uc010pgu.1_Silent_p.T160T	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	115					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					Melanoma(178;35 2768 6610 28839)								0.375	71.982293	72.860924	24	40	KEEP	---	---	---	---	capture		Silent	SNP	155935547	155935547	917	1	G	A	A	A	600	47	ARHGEF2	2	2
SPTA1	6708	broad.mit.edu	37	1	158609691	158609691	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158609691C>A	uc001fst.1	-	c.4844G>T	c.(4843-4845)AGC>ATC	p.S1615I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1615	Spectrin 16.				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)													0.37037	115.671068	117.266137	40	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158609691	158609691	15630	1	C	A	A	A	364	28	SPTA1	2	2
CADM3	57863	broad.mit.edu	37	1	159163801	159163801	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159163801G>C	uc001ftk.2	+	c.764G>C	c.(763-765)AGA>ACA	p.R255T	CADM3_uc009wsy.1_Intron|CADM3_uc001ftl.2_Missense_Mutation_p.R221T	NM_021189	NP_067012	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 1	221	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)													0.346154	57.936778	59.022305	18	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159163801	159163801	2684	1	G	C	C	C	429	33	CADM3	3	3
TMEM82	388595	broad.mit.edu	37	1	16069342	16069342	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16069342C>T	uc001axc.2	+	c.101C>T	c.(100-102)GCC>GTC	p.A34V		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	34	Leu-rich.|Helical; (Potential).					integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.270833	30.288462	32.54116	13	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16069342	16069342	16745	1	C	T	T	T	338	26	TMEM82	2	2
OLFML2B	25903	broad.mit.edu	37	1	161953812	161953812	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161953812G>T	uc010pkq.1	-	c.1909C>A	c.(1909-1911)CTG>ATG	p.L637M	OLFML2B_uc001gbt.2_Missense_Mutation_p.L119M|OLFML2B_uc001gbu.2_Missense_Mutation_p.L636M	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	636	Olfactomedin-like.										0	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)											0.272727	58.956089	63.057158	24	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161953812	161953812	11263	1	G	T	T	T	451	35	OLFML2B	2	2
ASTN1	460	broad.mit.edu	37	1	177001659	177001659	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177001659G>T	uc001glc.2	-	c.798C>A	c.(796-798)AGC>AGA	p.S266R	ASTN1_uc001glb.1_Missense_Mutation_p.S266R|ASTN1_uc001gld.1_Missense_Mutation_p.S266R|ASTN1_uc009wwx.1_Missense_Mutation_p.S266R|ASTN1_uc001gle.3_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	266					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.389831	193.516374	195.40305	69	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177001659	177001659	1083	1	G	T	T	T	542	42	ASTN1	2	2
RASAL2	9462	broad.mit.edu	37	1	178412214	178412214	+	Silent	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:178412214G>T	uc001glq.2	+	c.1332G>T	c.(1330-1332)CTG>CTT	p.L444L	RASAL2_uc001glr.2_Silent_p.L296L	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	296					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5														0.25641	24.428828	26.529497	10	29	KEEP	---	---	---	---	capture		Silent	SNP	178412214	178412214	13525	1	G	T	T	T	587	46	RASAL2	2	2
ARHGEF10L	55160	broad.mit.edu	37	1	17949602	17949602	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17949602A>T	uc001ban.2	+	c.1132A>T	c.(1132-1134)ATC>TTC	p.I378F	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.I339F|ARHGEF10L_uc001bao.2_Missense_Mutation_p.I339F|ARHGEF10L_uc001bap.2_Missense_Mutation_p.I339F|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.I136F|ARHGEF10L_uc001baq.2_Missense_Mutation_p.I144F|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.I156F|ARHGEF10L_uc001bar.2_Missense_Mutation_p.I156F|ARHGEF10L_uc009vpf.2_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	378	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)										0.425532	117.082468	117.537118	40	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17949602	17949602	909	1	A	T	T	T	156	12	ARHGEF10L	3	3
FAM5C	339479	broad.mit.edu	37	1	190067177	190067177	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190067177C>G	uc001gse.1	-	c.2272G>C	c.(2272-2274)GAT>CAT	p.D758H	FAM5C_uc010pot.1_Missense_Mutation_p.D656H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	758						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.358025	90.741683	92.183962	29	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190067177	190067177	5817	1	C	G	G	G	390	30	FAM5C	3	3
FAM5C	339479	broad.mit.edu	37	1	190067891	190067891	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190067891G>C	uc001gse.1	-	c.1558C>G	c.(1558-1560)CGC>GGC	p.R520G	FAM5C_uc010pot.1_Missense_Mutation_p.R418G	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	520						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.385621	190.387959	192.142215	59	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190067891	190067891	5817	1	G	C	C	C	494	38	FAM5C	3	3
ASPM	259266	broad.mit.edu	37	1	197072028	197072028	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197072028C>A	uc001gtu.2	-	c.6353G>T	c.(6352-6354)AGG>ATG	p.R2118M	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2118	IQ 17.|IQ 16.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.269231	36.324858	38.82518	14	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197072028	197072028	1075	1	C	A	A	A	312	24	ASPM	2	2
LRRN2	10446	broad.mit.edu	37	1	204588136	204588136	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204588136G>A	uc001hbe.1	-	c.985C>T	c.(985-987)CGC>TGC	p.R329C	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.R329C|LRRN2_uc009xbf.1_Missense_Mutation_p.R329C|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	329	LRR 11.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)											0.195652	40.800715	48.741688	18	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204588136	204588136	9411	1	G	A	A	A	507	39	LRRN2	1	1
ITPKB	3707	broad.mit.edu	37	1	226924682	226924682	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226924682C>A	uc010pvo.1	-	c.478G>T	c.(478-480)GCC>TCC	p.A160S	ITPKB_uc001hqh.2_Missense_Mutation_p.A160S	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	160							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				Colon(84;110 1851 5306 33547)								0.330189	198.34765	203.731805	70	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226924682	226924682	8222	1	C	A	A	A	351	27	ITPKB	1	1
URB2	9816	broad.mit.edu	37	1	229779384	229779384	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229779384A>T	uc001hts.1	+	c.3739A>T	c.(3739-3741)ATG>TTG	p.M1247L	URB2_uc009xfd.1_Missense_Mutation_p.M1247L	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1247						nucleolus				central_nervous_system(2)|ovary(1)	3										340				0.317568	128.879898	133.255189	47	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	229779384	229779384	17587	1	A	T	T	T	156	12	URB2	3	3
ACTN2	88	broad.mit.edu	37	1	236925779	236925779	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236925779G>A	uc001hyf.2	+	c.2545G>A	c.(2545-2547)GAG>AAG	p.E849K	ACTN2_uc001hyg.2_Missense_Mutation_p.E641K|ACTN2_uc009xgi.1_Missense_Mutation_p.E849K|ACTN2_uc010pxu.1_Missense_Mutation_p.E538K|ACTN2_uc001hyh.2_Missense_Mutation_p.E537K	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	849					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)											0.291139	59.59069	62.679519	23	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236925779	236925779	206	1	G	A	A	A	533	41	ACTN2	2	2
RYR2	6262	broad.mit.edu	37	1	237880668	237880668	+	Silent	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237880668G>A	uc001hyl.1	+	c.10494G>A	c.(10492-10494)CTG>CTA	p.L3498L	RYR2_uc010pxz.1_Silent_p.L453L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3498					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)											0.24	15.53695	17.079767	6	19	KEEP	---	---	---	---	capture		Silent	SNP	237880668	237880668	14249	1	G	A	A	A	600	47	RYR2	2	2
AKT3	10000	broad.mit.edu	37	1	243809209	243809209	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:243809209G>A	uc001iab.1	-	c.415C>T	c.(415-417)CAT>TAT	p.H139Y	AKT3_uc001hzz.1_Missense_Mutation_p.H139Y	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	139					protein phosphorylation|signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			lung(1)|central_nervous_system(1)	2	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)							274				0.315789	32.983732	34.132116	12	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	243809209	243809209	484	1	G	A	A	A	611	47	AKT3	2	2
OR2L3	391192	broad.mit.edu	37	1	248224306	248224306	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248224306G>T	uc001idx.1	+	c.323G>T	c.(322-324)GGT>GTT	p.G108V	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)											0.4	119.689332	120.560719	40	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248224306	248224306	11414	1	G	T	T	T	572	44	OR2L3	2	2
OR2T3	343173	broad.mit.edu	37	1	248636980	248636980	+	Missense_Mutation	SNP	T	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248636980T>G	uc001iel.1	+	c.329T>G	c.(328-330)CTG>CGG	p.L110R		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.333333	157.636928	161.773379	56	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248636980	248636980	11429	1	T	G	G	G	715	55	OR2T3	4	4
PTPRF	5792	broad.mit.edu	37	1	44057085	44057085	+	Silent	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:44057085G>A	uc001cjr.2	+	c.1392G>A	c.(1390-1392)AAG>AAA	p.K464K	PTPRF_uc001cjs.2_Silent_p.K464K|PTPRF_uc001cju.2_Silent_p.K35K|PTPRF_uc009vwt.2_Silent_p.K35K|PTPRF_uc001cjv.2_Silent_p.K35K	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	464	Extracellular (Potential).|Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.3125	14.569077	15.069866	5	11	KEEP	---	---	---	---	capture		Silent	SNP	44057085	44057085	13258	1	G	A	A	A	438	34	PTPRF	2	2
LRRC7	57554	broad.mit.edu	37	1	70488886	70488886	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70488886C>A	uc001dep.2	+	c.1509C>A	c.(1507-1509)TGC>TGA	p.C503*	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	503						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.276316	47.605159	51.0602	21	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70488886	70488886	9396	1	C	A	A	A	363	28	LRRC7	5	2
CLCA2	9635	broad.mit.edu	37	1	86898148	86898148	+	Silent	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86898148C>T	uc001dlr.3	+	c.681C>T	c.(679-681)ACC>ACT	p.T227T		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	227	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)	2		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)								0.455882	98.664455	98.772505	31	37	KEEP	---	---	---	---	capture		Silent	SNP	86898148	86898148	3594	1	C	T	T	T	301	24	CLCA2	2	2
C20orf94	128710	broad.mit.edu	37	20	10603806	10603806	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:10603806G>T	uc010zre.1	+	c.1006G>T	c.(1006-1008)GCT>TCT	p.A336S		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	hypothetical protein LOC128710	336							protein binding				0														0.377551	104.145142	105.436577	37	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10603806	10603806	2201	20	G	T	T	T	442	34	C20orf94	2	2
SEC23B	10483	broad.mit.edu	37	20	18523047	18523047	+	Splice_Site_SNP	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:18523047G>A	uc002wqz.1	+	c.1511_splice	c.e13+1	p.N504_splice	SEC23B_uc002wra.1_Splice_Site_SNP_p.N504_splice|SEC23B_uc002wrb.1_Splice_Site_SNP_p.N504_splice|SEC23B_uc010zsb.1_Splice_Site_SNP_p.N486_splice|SEC23B_uc002wrc.1_Splice_Site_SNP_p.N504_splice	NM_006363	NP_006354			Sec23 homolog B						ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1														0.373134	280.224697	284.015548	100	168	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	18523047	18523047	14478	20	G	A	A	A	468	36	SEC23B	5	2
PTPRT	11122	broad.mit.edu	37	20	40980917	40980917	+	Nonsense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40980917G>T	uc010ggj.2	-	c.1569C>A	c.(1567-1569)TAC>TAA	p.Y523*	PTPRT_uc002xkg.2_Nonsense_Mutation_p.Y523*	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	523	Extracellular (Potential).|Fibronectin type-III 3.				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				0.2	25.478454	30.492516	12	48	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	40980917	40980917	13270	20	G	T	T	T	620	48	PTPRT	5	2
ZNF831	128611	broad.mit.edu	37	20	57829576	57829576	+	Silent	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57829576C>T	uc002yan.2	+	c.4812C>T	c.(4810-4812)CCC>CCT	p.P1604P		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1604						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.148148	43.885405	63.145666	24	138	KEEP	---	---	---	---	capture		Silent	SNP	57829576	57829576	18784	20	C	T	T	T	301	24	ZNF831	2	2
PRPF6	24148	broad.mit.edu	37	20	62630480	62630480	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62630480G>C	uc002yho.2	+	c.854G>C	c.(853-855)GGA>GCA	p.G285A	PRPF6_uc002yhp.2_Missense_Mutation_p.G285A	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	285					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)													0.149254	21.404507	29.310446	10	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62630480	62630480	13017	20	G	C	C	C	533	41	PRPF6	3	3
RSPO4	343637	broad.mit.edu	37	20	947922	947922	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:947922C>T	uc002wej.2	-	c.304G>A	c.(304-306)GAC>AAC	p.D102N	RSPO4_uc002wek.2_Missense_Mutation_p.D102N	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	102	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding				0														0.259843	78.299348	84.947651	33	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	947922	947922	14192	20	C	T	T	T	390	30	RSPO4	2	2
LIPI	149998	broad.mit.edu	37	21	15561369	15561369	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:15561369T>C	uc002yjm.2	-	c.481A>G	c.(481-483)ATT>GTT	p.I161V	LIPI_uc010gkw.1_Missense_Mutation_p.I94V	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	140					lipid catabolic process	extracellular region|extracellular space|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)										0.181818	7.886289	9.980182	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15561369	15561369	9152	21	T	C	C	C	663	51	LIPI	4	4
ADAMTS1	9510	broad.mit.edu	37	21	28212371	28212371	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28212371G>T	uc002ymf.2	-	c.1675C>A	c.(1675-1677)CAT>AAT	p.H559N		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	559	Disintegrin.|TSP type-1 1.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)										0.388889	39.940608	40.330386	14	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28212371	28212371	256	21	G	T	T	T	585	45	ADAMTS1	2	2
KRTAP13-1	140258	broad.mit.edu	37	21	31768627	31768627	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31768627C>A	uc002yoa.2	+	c.223C>A	c.(223-225)CCC>ACC	p.P75T		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	75	3.|5 X 10 AA approximate repeats.					intermediate filament				ovary(1)	1														0.414286	77.693727	78.132591	29	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31768627	31768627	8837	21	C	A	A	A	286	22	KRTAP13-1	2	2
DGCR14	8220	broad.mit.edu	37	22	19124931	19124931	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:19124931G>A	uc002zou.2	-	c.940C>T	c.(940-942)CCG>TCG	p.P314S	DGCR14_uc002zot.2_Missense_Mutation_p.P235S|DGCR14_uc002zov.2_Non-coding_Transcript	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	314					nervous system development|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)									49				0.400862	287.626999	289.621067	93	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19124931	19124931	4639	22	G	A	A	A	559	43	DGCR14	2	2
CYTH4	27128	broad.mit.edu	37	22	37708205	37708205	+	Nonsense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:37708205G>T	uc003arf.2	+	c.1102G>T	c.(1102-1104)GAG>TAG	p.E368*	CYTH4_uc011amw.1_Nonsense_Mutation_p.E311*|CYTH4_uc010gxe.2_Non-coding_Transcript	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	368	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2														0.283951	58.741517	62.106634	23	58	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	37708205	37708205	4371	22	G	T	T	T	481	37	CYTH4	5	1
WNT7B	7477	broad.mit.edu	37	22	46345933	46345933	+	Silent	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:46345933C>A	uc010haa.2	-	c.177G>T	c.(175-177)CGG>CGT	p.R59R	WNT7B_uc003bgo.2_Silent_p.R55R	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	55					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of gene-specific transcription|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity				0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)										0.25	34.893893	38.305304	15	45	KEEP	---	---	---	---	capture		Silent	SNP	46345933	46345933	17969	22	C	A	A	A	327	26	WNT7B	2	2
LRP1B	53353	broad.mit.edu	37	2	141032086	141032086	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141032086C>A	uc002tvj.1	-	c.13049G>T	c.(13048-13050)CGC>CTC	p.R4350L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4350	Extracellular (Potential).|EGF-like 13.				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)			0.378378	40.344603	40.823249	14	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141032086	141032086	9328	2	C	A	A	A	351	27	LRP1B	1	1
LRP1B	53353	broad.mit.edu	37	2	141773418	141773419	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141773418_141773419GG>TT	uc002tvj.1	-	c.2036_2037CC>AA	c.(2035-2037)GCC>GAA	p.A679E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	679	Extracellular (Potential).|LDL-receptor class B 7.				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)			0.319444	61.697853	63.78459	23	49	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	141773418	141773419	9328	2	GG	TT	TT	TT	444	35	LRP1B	2	2
LRP1B	53353	broad.mit.edu	37	2	141819657	141819658	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141819657_141819658TG>AT	uc002tvj.1	-	c.1198_1199CA>AT	c.(1198-1200)CAA>ATA	p.Q400I	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	400	Extracellular (Potential).|LDL-receptor class B 4.				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)			0.290909	40.477726	42.632144	16	39	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	141819657	141819658	9328	2	TG	AT	AT	AT	819	63	LRP1B	3	3
SCN3A	6328	broad.mit.edu	37	2	166010962	166010962	+	Silent	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166010962C>T	uc002ucx.2	-	c.1380G>A	c.(1378-1380)CAG>CAA	p.Q460Q	SCN3A_uc002ucy.2_Silent_p.Q460Q|SCN3A_uc002ucz.2_Silent_p.Q460Q|SCN3A_uc002uda.1_Silent_p.Q329Q|SCN3A_uc002udb.1_Silent_p.Q329Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	460						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.171429	13.029694	16.600124	6	29	KEEP	---	---	---	---	capture		Silent	SNP	166010962	166010962	14400	2	C	T	T	T	311	24	SCN3A	2	2
TTN	7273	broad.mit.edu	37	2	179600341	179600341	+	Silent	SNP	T	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179600341T>A	uc010zfg.1	-	c.11100A>T	c.(11098-11100)ACA>ACT	p.T3700T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T361T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3475										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				0.375	34.893785	35.332053	12	20	KEEP	---	---	---	---	capture		Silent	SNP	179600341	179600341	17290	2	T	A	A	A	756	59	TTN	3	3
CERKL	375298	broad.mit.edu	37	2	182521630	182521630	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:182521630G>T	uc002unx.2	-	c.104C>A	c.(103-105)TCC>TAC	p.S35Y	CERKL_uc002uny.2_Missense_Mutation_p.S35Y|CERKL_uc010zfm.1_Missense_Mutation_p.S35Y|CERKL_uc002unz.2_5'UTR|CERKL_uc002uoa.2_Missense_Mutation_p.S35Y|CERKL_uc002uob.2_5'UTR|CERKL_uc002uoc.2_Missense_Mutation_p.S35Y|CERKL_uc010frk.2_Non-coding_Transcript|CERKL_uc002uod.1_Intron|CERKL_uc002uoe.2_Missense_Mutation_p.S35Y	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	35					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|visual perception	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)											0.25	19.924166	22.203328	10	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182521630	182521630	3401	2	G	T	T	T	533	41	CERKL	2	2
CALCRL	10203	broad.mit.edu	37	2	188216867	188216867	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:188216867T>C	uc002upv.3	-	c.1102A>G	c.(1102-1104)ATC>GTC	p.I368V	CALCRL_uc010frt.2_Missense_Mutation_p.I368V	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	368	Helical; Name=7; (Potential).					integral to plasma membrane				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)											0.263158	13.566798	14.530368	5	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	188216867	188216867	2696	2	T	C	C	C	663	51	CALCRL	4	4
SLC4A5	57835	broad.mit.edu	37	2	74477490	74477490	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74477490C>A	uc002sko.1	-	c.1633G>T	c.(1633-1635)GAT>TAT	p.D545Y	SLC4A5_uc002skl.2_Non-coding_Transcript|SLC4A5_uc002skn.2_Missense_Mutation_p.D545Y|SLC4A5_uc010ffc.1_Missense_Mutation_p.D545Y|SLC4A5_uc002skp.1_Missense_Mutation_p.D481Y|SLC4A5_uc002sks.1_Missense_Mutation_p.D545Y	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	545	Extracellular (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|central_nervous_system(1)|skin(1)	7												OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.375	77.229426	78.326077	30	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74477490	74477490	15154	2	C	A	A	A	390	30	SLC4A5	2	2
MRPL19	9801	broad.mit.edu	37	2	75881899	75881899	+	Silent	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:75881899C>T	uc002snl.2	+	c.513C>T	c.(511-513)GTC>GTT	p.V171V	MRPL19_uc002snm.1_Silent_p.V171V	NM_014763	NP_055578	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19 precursor	171					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome				0														0.145833	9.986347	15.78845	7	41	KEEP	---	---	---	---	capture		Silent	SNP	75881899	75881899	10177	2	C	T	T	T	379	30	MRPL19	2	2
EIF2AK3	9451	broad.mit.edu	37	2	88876190	88876190	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:88876190C>G	uc002stc.3	-	c.1918G>C	c.(1918-1920)GTT>CTT	p.V640L		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	640	Cytoplasmic (Potential).|Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GBM(138;671 1851 16235 39058 45249)				242				0.4375	65.341666	65.508834	21	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88876190	88876190	5187	2	C	G	G	G	260	20	EIF2AK3	3	3
MYLK	4638	broad.mit.edu	37	3	123375980	123375980	+	Silent	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123375980T>C	uc003ego.2	-	c.4281A>G	c.(4279-4281)AAA>AAG	p.K1427K	MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Silent_p.K227K|MYLK_uc011bjw.1_Silent_p.K1427K|MYLK_uc003egp.2_Silent_p.K1358K|MYLK_uc003egq.2_Silent_p.K1427K|MYLK_uc003egr.2_Silent_p.K1358K|MYLK_uc003egs.2_Silent_p.K1251K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1427	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction|protein phosphorylation	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)	6		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)						766				0.46988	124.511162	124.576812	39	44	KEEP	---	---	---	---	capture		Silent	SNP	123375980	123375980	10451	3	T	C	C	C	777	60	MYLK	4	4
COL6A6	131873	broad.mit.edu	37	3	130292827	130292827	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130292827T>A	uc010htl.2	+	c.3005T>A	c.(3004-3006)GTT>GAT	p.V1002D		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1002	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.5	55.04809	55.04809	18	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130292827	130292827	3841	3	T	A	A	A	780	60	COL6A6	3	3
TRPC1	7220	broad.mit.edu	37	3	142503717	142503717	+	Nonsense_Mutation	SNP	A	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142503717A>T	uc003evc.2	+	c.1132A>T	c.(1132-1134)AGA>TGA	p.R378*	TRPC1_uc003evb.2_Nonsense_Mutation_p.R344*	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	378	Cytoplasmic (Potential).				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2														0.218182	30.670296	34.695953	12	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	142503717	142503717	17129	3	A	T	T	T	88	7	TRPC1	5	3
ATP13A5	344905	broad.mit.edu	37	3	193019010	193019010	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:193019010A>T	uc011bsq.1	-	c.2765T>A	c.(2764-2766)CTG>CAG	p.L922Q		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	922	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|large_intestine(2)	7	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)						699				0.488636	141.722838	141.732715	43	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	193019010	193019010	1146	3	A	T	T	T	91	7	ATP13A5	3	3
CELSR3	1951	broad.mit.edu	37	3	48670747	48670747	+	Missense_Mutation	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48670747G>A	uc003cuf.1	-	c.10441C>T	c.(10441-10443)CGT>TGT	p.R3481C	SLC26A6_uc003cug.2_Missense_Mutation_p.R66C|SLC26A6_uc003cuh.2_Missense_Mutation_p.R87C|SLC26A6_uc010hke.2_5'UTR|SLC26A6_uc003cuk.2_Missense_Mutation_p.R87C|SLC26A6_uc003cui.2_Missense_Mutation_p.R87C|SLC26A6_uc003cuj.2_Missense_Mutation_p.R87C|SLC26A6_uc011bbp.1_Missense_Mutation_p.R87C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)										0.34375	30.516112	31.205795	11	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48670747	48670747	3356	3	G	A	A	A	494	38	CELSR3	1	1
MAGI1	9223	broad.mit.edu	37	3	65456009	65456009	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:65456009G>T	uc003dmn.2	-	c.908C>A	c.(907-909)CCT>CAT	p.P303H	MAGI1_uc003dmm.2_Missense_Mutation_p.P303H|MAGI1_uc003dmo.2_Missense_Mutation_p.P303H|MAGI1_uc003dmp.2_Missense_Mutation_p.P303H|MAGI1_uc010hny.2_Missense_Mutation_p.P188H|MAGI1_uc003dmr.2_Missense_Mutation_p.P304H	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	303	WW 1.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			kidney(1)|pancreas(1)	2		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)										0.666667	58.357079	59.020497	18	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65456009	65456009	9573	3	G	T	T	T	455	35	MAGI1	2	2
BBS7	55212	broad.mit.edu	37	4	122782798	122782798	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:122782798T>A	uc003ied.2	-	c.202A>T	c.(202-204)AGG>TGG	p.R68W	BBS7_uc003iee.1_Missense_Mutation_p.R68W|BBS7_uc010inq.1_Missense_Mutation_p.R24W	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	68					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|cilium membrane|cytoplasm	protein binding			ovary(1)	1														0.5625	28.17618	28.230518	9	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122782798	122782798	1362	4	T	A	A	A	726	56	BBS7	3	3
CC2D2A	57545	broad.mit.edu	37	4	15569349	15569349	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:15569349A>G	uc010idv.2	+	c.3338A>G	c.(3337-3339)CAT>CGT	p.H1113R	CC2D2A_uc003gnx.2_Missense_Mutation_p.H1064R|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A isoform	1113	C2.				cell projection organization	cilium|microtubule basal body				pancreas(2)|ovary(1)	3														0.285714	15.741346	16.606708	6	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15569349	15569349	2848	4	A	G	G	G	104	8	CC2D2A	4	4
SNX25	83891	broad.mit.edu	37	4	186244912	186244912	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:186244912A>T	uc003ixh.2	+	c.1215A>T	c.(1213-1215)GAA>GAT	p.E405D	SNX25_uc010ish.2_Missense_Mutation_p.E176D|SNX25_uc003ixi.2_De_novo_Start_OutOfFrame	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	405					cell communication|protein transport		phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)										0.294118	13.568002	14.213057	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186244912	186244912	15396	4	A	T	T	T	37	3	SNX25	3	3
PROL1	58503	broad.mit.edu	37	4	71275347	71275347	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71275347G>T	uc003hfi.2	+	c.302G>T	c.(301-303)GGT>GTT	p.G101V		NM_021225	NP_067048	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	101	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			large_intestine(1)	1		all_hematologic(202;0.196)												0.397906	228.356796	230.099428	76	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71275347	71275347	12997	4	G	T	T	T	572	44	PROL1	2	2
ADAMTS3	9508	broad.mit.edu	37	4	73149140	73149140	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73149140C>T	uc003hgk.1	-	c.3331G>A	c.(3331-3333)GGT>AGT	p.G1111S		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1111					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			NSCLC(168;1941 2048 2918 13048 43078)								0.132743	24.049992	38.846774	15	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73149140	73149140	268	4	C	T	T	T	312	24	ADAMTS3	2	2
ALDH7A1	501	broad.mit.edu	37	5	125912853	125912853	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:125912853T>A	uc003ktx.2	-	c.568A>T	c.(568-570)ATC>TTC	p.I190F	ALDH7A1_uc003kty.2_Non-coding_Transcript|ALDH7A1_uc011cxa.1_Missense_Mutation_p.I217F|ALDH7A1_uc003ktz.2_Missense_Mutation_p.I217F	NM_001182	NP_001173	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	190					cellular aldehyde metabolic process|lysine catabolic process|oxidation-reduction process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			kidney(2)|ovary(1)	3		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)					282				0.6	77.00639	77.356029	24	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125912853	125912853	507	5	T	A	A	A	676	52	ALDH7A1	3	3
HARS	3035	broad.mit.edu	37	5	140070879	140070879	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140070879C>A	uc003lgv.2	-	c.11G>T	c.(10-12)CGT>CTT	p.R4L	HARS_uc011czm.1_Missense_Mutation_p.R4L|HARS_uc003lgw.2_Missense_Mutation_p.R4L|HARS_uc011czn.1_Missense_Mutation_p.R4L|HARS_uc010jfu.2_Missense_Mutation_p.R4L|HARS_uc011czo.1_Missense_Mutation_p.R4L|HARS_uc011czp.1_Missense_Mutation_p.R4L|HARS_uc011czq.1_Missense_Mutation_p.R4L|HARS2_uc010jfv.1_5'Flank|HARS2_uc003lgx.2_5'Flank|HARS2_uc011czr.1_5'Flank|HARS2_uc011czs.1_5'Flank|HARS2_uc011czt.1_5'Flank	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	4	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)									0.695652	53.20843	53.994443	16	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140070879	140070879	7241	5	C	A	A	A	247	19	HARS	1	1
SPRY4	81848	broad.mit.edu	37	5	141693948	141693948	+	Silent	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141693948G>A	uc010jgi.1	-	c.795C>T	c.(793-795)TCC>TCT	p.S265S	SPRY4_uc003lml.2_Silent_p.S242S	NM_030964	NP_112226	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 1	242	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.25	21.589076	23.403947	8	24	KEEP	---	---	---	---	capture		Silent	SNP	141693948	141693948	15622	5	G	A	A	A	496	39	SPRY4	1	1
PRDM9	56979	broad.mit.edu	37	5	23524575	23524575	+	Nonsense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23524575C>A	uc003jgo.2	+	c.1083C>A	c.(1081-1083)TAC>TAA	p.Y361*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	361	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.392523	132.93377	134.013558	42	65	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23524575	23524575	12906	5	C	A	A	A	246	19	PRDM9	5	1
CDH9	1007	broad.mit.edu	37	5	26915812	26915812	+	Missense_Mutation	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26915812T>C	uc003jgs.1	-	c.449A>G	c.(448-450)CAT>CGT	p.H150R	CDH9_uc010iug.2_Missense_Mutation_p.H150R	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	150	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.409091	78.893992	79.374573	27	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26915812	26915812	3246	5	T	C	C	C	663	51	CDH9	4	4
IRX1	79192	broad.mit.edu	37	5	3599727	3599727	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:3599727A>T	uc003jde.2	+	c.665A>T	c.(664-666)GAG>GTG	p.E222V		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	222					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|pancreas(1)	2														0.104478	5.076364	15.503768	7	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3599727	3599727	8147	5	A	T	T	T	143	11	IRX1	3	3
PTPRK	5796	broad.mit.edu	37	6	128404945	128404945	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128404945G>C	uc011ebu.1	-	c.1490C>G	c.(1489-1491)TCT>TGT	p.S497C	PTPRK_uc003qbj.2_Missense_Mutation_p.S497C|PTPRK_uc010kfc.2_Missense_Mutation_p.S497C|PTPRK_uc003qbk.2_Missense_Mutation_p.S497C|PTPRK_uc003qbl.1_Missense_Mutation_p.S367C|PTPRK_uc011ebv.1_Missense_Mutation_p.S497C	NM_001135648	NP_001129120	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	497	Extracellular (Potential).|Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)										0.181818	8.686321	10.780821	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128404945	128404945	13262	6	G	C	C	C	429	33	PTPRK	3	3
JARID2	3720	broad.mit.edu	37	6	15497370	15497370	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:15497370G>T	uc003nbj.2	+	c.1914G>T	c.(1912-1914)CAG>CAT	p.Q638H	JARID2_uc011diu.1_Missense_Mutation_p.Q502H|JARID2_uc011div.1_Missense_Mutation_p.Q466H|JARID2_uc011diw.1_Missense_Mutation_p.Q600H	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	638	ARID.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)								694				0.363636	9.894836	10.0756	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15497370	15497370	8249	6	G	T	T	T	451	35	JARID2	2	2
THBS2	7058	broad.mit.edu	37	6	169621556	169621556	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:169621556G>C	uc003qwt.2	-	c.3340C>G	c.(3340-3342)CTG>GTG	p.L1114V		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	1114	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(4)	4		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		Esophageal Squamous(91;219 1934 18562 44706)								0.522222	146.623583	146.657259	47	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169621556	169621556	16382	6	G	C	C	C	451	35	THBS2	3	3
HIST1H4E	8367	broad.mit.edu	37	6	26204930	26204930	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26204930C>A	uc003ngy.2	+	c.58C>A	c.(58-60)CGT>AGT	p.R20S		NM_003545	NP_003536	P62805	H4_HUMAN	histone cluster 1, H4e	20					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)												0.191176	54.964503	67.10227	26	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26204930	26204930	7454	6	C	A	A	A	299	23	HIST1H4E	1	1
DAAM2	23500	broad.mit.edu	37	6	39869182	39869182	+	Silent	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39869182G>C	uc003oow.2	+	c.2916G>C	c.(2914-2916)CGG>CGC	p.R972R	DAAM2_uc003oox.2_Silent_p.R971R	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	972	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)													0.330435	120.135702	123.053713	38	77	KEEP	---	---	---	---	capture		Silent	SNP	39869182	39869182	4382	6	G	C	C	C	535	42	DAAM2	3	3
HMGCLL1	54511	broad.mit.edu	37	6	55364093	55364093	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55364093C>A	uc003pcn.2	-	c.637G>T	c.(637-639)GTG>TTG	p.V213L	HMGCLL1_uc003pco.2_Missense_Mutation_p.V183L|HMGCLL1_uc010jzx.2_Missense_Mutation_p.V84L|HMGCLL1_uc011dxc.1_Missense_Mutation_p.V151L|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	213							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			Ovarian(35;840 893 7837 15538 42887)								0.2	11.159804	13.253184	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55364093	55364093	7521	6	C	A	A	A	221	17	HMGCLL1	2	2
EPHA7	2045	broad.mit.edu	37	6	93956601	93956601	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:93956601C>T	uc003poe.2	-	c.2635G>A	c.(2635-2637)GAA>AAA	p.E879K	EPHA7_uc003pof.2_Missense_Mutation_p.E874K|EPHA7_uc011eac.1_Missense_Mutation_p.E875K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	879	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(7)|lung(6)|central_nervous_system(3)|large_intestine(2)|skin(2)|pancreas(1)	21		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)						635				0.642857	84.733993	85.488547	27	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93956601	93956601	5365	6	C	T	T	T	377	29	EPHA7	2	2
THSD7A	221981	broad.mit.edu	37	7	11501681	11501681	+	Missense_Mutation	SNP	C	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11501681C>T	uc003ssf.3	-	c.2458G>A	c.(2458-2460)GAA>AAA	p.E820K		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	820	TSP type-1 8.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.371951	162.511135	164.881093	61	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11501681	11501681	16407	7	C	T	T	T	377	29	THSD7A	2	2
THSD7A	221981	broad.mit.edu	37	7	11633039	11633039	+	Silent	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11633039G>T	uc003ssf.3	-	c.1113C>A	c.(1111-1113)CCC>CCA	p.P371P		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	371	TSP type-1 3.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.294872	60.0901	63.029367	23	55	KEEP	---	---	---	---	capture		Silent	SNP	11633039	11633039	16407	7	G	T	T	T	444	35	THSD7A	2	2
CHRM2	1129	broad.mit.edu	37	7	136699878	136699878	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:136699878G>C	uc003vtf.1	+	c.266G>C	c.(265-267)TGG>TCG	p.W89S	CHRM2_uc003vtg.1_Missense_Mutation_p.W89S|CHRM2_uc003vtj.1_Missense_Mutation_p.W89S|CHRM2_uc003vtk.1_Missense_Mutation_p.W89S|CHRM2_uc003vtl.1_Missense_Mutation_p.W89S|CHRM2_uc003vtm.1_Missense_Mutation_p.W89S|CHRM2_uc003vti.1_Missense_Mutation_p.W89S|CHRM2_uc003vto.1_Missense_Mutation_p.W89S|CHRM2_uc003vtn.1_Missense_Mutation_p.W89S	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	89	Extracellular (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)									0.345455	113.713544	116.034979	38	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136699878	136699878	3511	7	G	C	C	C	611	47	CHRM2	3	3
ZNF479	90827	broad.mit.edu	37	7	57188680	57188680	+	Missense_Mutation	SNP	A	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:57188680A>G	uc010kzo.2	-	c.442T>C	c.(442-444)TGT>CGT	p.C148R		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3			GBM - Glioblastoma multiforme(1;9.18e-12)											0.489796	73.693443	73.697986	24	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57188680	57188680	18527	7	A	G	G	G	104	8	ZNF479	4	4
DPYS	1807	broad.mit.edu	37	8	105459557	105459557	+	Missense_Mutation	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105459557C>A	uc003yly.3	-	c.598G>T	c.(598-600)GCA>TCA	p.A200S		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	200					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.25	25.530464	27.803147	10	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105459557	105459557	4930	8	C	A	A	A	325	25	DPYS	2	2
ZFPM2	23414	broad.mit.edu	37	8	106813655	106813655	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:106813655C>G	uc003ymd.2	+	c.1345C>G	c.(1345-1347)CTC>GTC	p.L449V	ZFPM2_uc011lhs.1_Missense_Mutation_p.L180V	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	449					blood coagulation|transcription, DNA-dependent	nucleoplasm	DNA binding|RNA polymerase II transcription factor activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)											0.102941	6.5749	17.255522	7	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106813655	106813655	18248	8	C	G	G	G	416	32	ZFPM2	3	3
PKHD1L1	93035	broad.mit.edu	37	8	110477349	110477349	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110477349G>T	uc003yne.2	+	c.8288G>T	c.(8287-8289)TGT>TTT	p.C2763F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2763	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.285714	95.638066	100.837031	36	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110477349	110477349	12397	8	G	T	T	T	624	48	PKHD1L1	2	2
CSMD3	114788	broad.mit.edu	37	8	113246674	113246674	+	Silent	SNP	A	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113246674A>G	uc003ynu.2	-	c.10660T>C	c.(10660-10662)TTA>CTA	p.L3554L	CSMD3_uc003yns.2_Silent_p.L2756L|CSMD3_uc003ynt.2_Silent_p.L3514L|CSMD3_uc011lhx.1_Silent_p.L3385L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3554	Extracellular (Potential).					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)			0.206897	60.443175	69.673163	24	92	KEEP	---	---	---	---	capture		Silent	SNP	113246674	113246674	4087	8	A	G	G	G	24	2	CSMD3	4	4
CSMD3	114788	broad.mit.edu	37	8	113254006	113254006	+	Nonsense_Mutation	SNP	T	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113254006T>A	uc003ynu.2	-	c.10411A>T	c.(10411-10413)AAA>TAA	p.K3471*	CSMD3_uc003yns.2_Nonsense_Mutation_p.K2673*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.K3431*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.K3302*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3471	Extracellular (Potential).					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)			0.571429	124.207823	124.519488	40	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	113254006	113254006	4087	8	T	A	A	A	793	61	CSMD3	5	3
TAF2	6873	broad.mit.edu	37	8	120814149	120814149	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:120814149G>C	uc003you.2	-	c.677C>G	c.(676-678)ACT>AGT	p.T226S		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	226					G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|promoter binding|protein binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)	5	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)											0.309524	75.449911	78.148257	26	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120814149	120814149	16045	8	G	C	C	C	468	36	TAF2	3	3
DENND3	22898	broad.mit.edu	37	8	142170817	142170817	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:142170817G>T	uc003yvy.2	+	c.1043G>T	c.(1042-1044)CGG>CTG	p.R348L	DENND3_uc010mep.2_Intron|DENND3_uc003yvz.1_Intron	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	348										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)											0.26	34.254439	36.860535	13	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142170817	142170817	4611	8	G	T	T	T	507	39	DENND3	1	1
CA8	767	broad.mit.edu	37	8	61193624	61193624	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:61193624T>A	uc003xtz.1	-	c.83A>T	c.(82-84)GAG>GTG	p.E28V	CA8_uc003xua.1_Missense_Mutation_p.E28V|CA8_uc003xub.2_Missense_Mutation_p.E28V	NM_004056	NP_004047	P35219	CAH8_HUMAN	carbonic anhydrase VIII	28	Glu-rich (acidic).				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)												0.52459	86.922559	86.957852	32	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61193624	61193624	2639	8	T	A	A	A	702	54	CA8	3	3
ARFGEF1	10565	broad.mit.edu	37	8	68139538	68139538	+	Silent	SNP	T	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:68139538T>A	uc003xxo.1	-	c.3750A>T	c.(3748-3750)CCA>CCT	p.P1250P	ARFGEF1_uc003xxl.1_Silent_p.P704P|ARFGEF1_uc003xxn.1_Silent_p.P233P	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1250					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)							932				0.306122	44.206877	45.849226	15	34	KEEP	---	---	---	---	capture		Silent	SNP	68139538	68139538	863	8	T	A	A	A	808	63	ARFGEF1	3	3
SULF1	23213	broad.mit.edu	37	8	70539460	70539460	+	Silent	SNP	C	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:70539460C>A	uc010lza.1	+	c.1866C>A	c.(1864-1866)CCC>CCA	p.P622P	SULF1_uc003xyd.2_Silent_p.P622P|SULF1_uc003xye.2_Silent_p.P622P|SULF1_uc003xyf.2_Silent_p.P622P|SULF1_uc003xyg.2_Silent_p.P622P|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_5'Flank	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	622					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)							473				0.237288	35.218487	38.940647	14	45	KEEP	---	---	---	---	capture		Silent	SNP	70539460	70539460	15890	8	C	A	A	A	262	21	SULF1	2	2
SLCO5A1	81796	broad.mit.edu	37	8	70594557	70594557	+	Missense_Mutation	SNP	A	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:70594557A>C	uc003xyl.2	-	c.1644T>G	c.(1642-1644)CAT>CAG	p.H548Q	SLCO5A1_uc010lzb.2_Missense_Mutation_p.H493Q|SLCO5A1_uc011lfa.1_Non-coding_Transcript|SLCO5A1_uc003xyk.2_Missense_Mutation_p.H548Q	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	548	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)	3	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)											0.210526	64.541025	73.374612	24	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70594557	70594557	15228	8	A	C	C	C	206	16	SLCO5A1	4	4
ZFHX4	79776	broad.mit.edu	37	8	77763566	77763566	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77763566G>T	uc003yav.2	+	c.4274G>T	c.(4273-4275)TGG>TTG	p.W1425L	ZFHX4_uc003yau.1_Missense_Mutation_p.W1470L|ZFHX4_uc003yaw.1_Missense_Mutation_p.W1425L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1425					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.255319	30.776282	33.329774	12	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77763566	77763566	18223	8	G	T	T	T	611	47	ZFHX4	2	2
CNGB3	54714	broad.mit.edu	37	8	87591351	87591351	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87591351G>C	uc003ydx.2	-	c.1911C>G	c.(1909-1911)ATC>ATG	p.I637M	CNGB3_uc010maj.2_Missense_Mutation_p.I494M	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	637	Cytoplasmic (Potential).|cGMP (By similarity).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3														0.519417	365.602596	365.676094	107	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87591351	87591351	3739	8	G	C	C	C	525	41	CNGB3	3	3
GEM	2669	broad.mit.edu	37	8	95265333	95265333	+	Silent	SNP	T	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95265333T>C	uc003ygj.2	-	c.339A>G	c.(337-339)ACA>ACG	p.T113T	GEM_uc003ygi.2_Silent_p.T113T	NM_005261	NP_005252	P55040	GEM_HUMAN	GTP-binding mitogen-induced T-cell protein	113					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding				0	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)								0.276596	65.605563	69.831643	26	68	KEEP	---	---	---	---	capture		Silent	SNP	95265333	95265333	6597	8	T	C	C	C	652	51	GEM	4	4
FKBP15	23307	broad.mit.edu	37	9	115965313	115965313	+	Silent	SNP	A	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:115965313A>G	uc004bgs.2	-	c.327T>C	c.(325-327)TAT>TAC	p.Y109Y	FKBP15_uc010muu.1_Silent_p.Y173Y|FKBP15_uc011lxd.1_Silent_p.Y41Y|FKBP15_uc010mut.1_5'UTR|FKBP15_uc004bgt.2_Silent_p.Y109Y	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	109	Important for function in growth cone organization (By similarity).				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3														0.625	16.176672	16.286439	5	3	KEEP	---	---	---	---	capture		Silent	SNP	115965313	115965313	6143	9	A	G	G	G	206	16	FKBP15	4	4
IFNA2	3440	broad.mit.edu	37	9	21385084	21385084	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21385084A>T	uc003zpb.2	-	c.245T>A	c.(244-246)ATG>AAG	p.M82K		NM_000605	NP_000596	P01563	IFNA2_HUMAN	interferon, alpha 2 precursor	82					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)	1				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)					41				0.255814	58.710385	63.360816	22	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21385084	21385084	7838	9	A	T	T	T	104	8	IFNA2	3	3
TAF1L	138474	broad.mit.edu	37	9	32631306	32631306	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32631306G>T	uc003zrg.1	-	c.4272C>A	c.(4270-4272)TTC>TTA	p.F1424L		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1424	Bromo 1.				male meiosis|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding|transcription activator activity			lung(8)|large_intestine(3)|central_nervous_system(3)|skin(2)|ovary(2)|breast(1)|pancreas(1)	20			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)						234				0.618321	245.691836	247.297782	81	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32631306	32631306	16044	9	G	T	T	T	529	41	TAF1L	2	2
KIAA1539	80256	broad.mit.edu	37	9	35107649	35107650	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35107649_35107650CC>AA	uc003zwl.2	-	c.622_623GG>TT	c.(622-624)GGG>TTG	p.G208L	KIAA1539_uc003zwm.2_Missense_Mutation_p.G208L|KIAA1539_uc003zwn.2_Intron|KIAA1539_uc003zwo.2_Missense_Mutation_p.G208L|KIAA1539_uc003zwp.1_Missense_Mutation_p.G208L|KIAA1539_uc010mkk.1_Intron	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	208						nucleus				ovary(1)	1	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)											0.372549	51.526766	52.248261	19	32	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	35107649	35107650	8551	9	CC	AA	AA	AA	286	22	KIAA1539	2	2
IARS	3376	broad.mit.edu	37	9	94973152	94973152	+	Silent	SNP	G	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:94973152G>A	uc004art.1	-	c.3726C>T	c.(3724-3726)CCC>CCT	p.P1242P	IARS_uc004ars.1_Silent_p.P1035P|IARS_uc004aru.3_Silent_p.P1242P|IARS_uc010mqr.2_Silent_p.P1132P|IARS_uc004arr.1_Non-coding_Transcript	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	1242					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)	1					L-Isoleucine(DB00167)									0.512821	67.801412	67.806989	20	19	KEEP	---	---	---	---	capture		Silent	SNP	94973152	94973152	7773	9	G	A	A	A	496	39	IARS	1	1
PHF2	5253	broad.mit.edu	37	9	96416742	96416742	+	Silent	SNP	C	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:96416742C>G	uc004aub.2	+	c.837C>G	c.(835-837)TCC>TCG	p.S279S	PHF2_uc011lug.1_Silent_p.S162S	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	279	JmjC.				negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	methylated histone residue binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)										0.6	81.926213	82.318835	27	18	KEEP	---	---	---	---	capture		Silent	SNP	96416742	96416742	12253	9	C	G	G	G	275	22	PHF2	3	3
GABRQ	55879	broad.mit.edu	37	X	151821395	151821395	+	Missense_Mutation	SNP	A	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151821395A>T	uc004ffp.1	+	c.1550A>T	c.(1549-1551)AAG>ATG	p.K517M		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	517						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.492424	199.866053	199.872702	65	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151821395	151821395	6426	23	A	T	T	T	39	3	GABRQ	3	3
MAGEB10	139422	broad.mit.edu	37	X	27839787	27839787	+	Missense_Mutation	SNP	T	A	A			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27839787T>A	uc004dbw.2	+	c.364T>A	c.(364-366)TTG>ATG	p.L122M		NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	122	MAGE.									lung(1)|breast(1)|central_nervous_system(1)	3														0.896552	88.871971	93.411485	26	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27839787	27839787	9554	23	T	A	A	A	725	56	MAGEB10	3	3
DGKK	139189	broad.mit.edu	37	X	50213554	50213554	+	Missense_Mutation	SNP	C	G	G			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50213554C>G	uc010njr.1	-	c.124G>C	c.(124-126)GCT>CCT	p.A42P		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	42					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)													0.947368	67.111774	68.687366	18	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50213554	50213554	4651	23	C	G	G	G	338	26	DGKK	3	3
BMP15	9210	broad.mit.edu	37	X	50659489	50659489	+	Missense_Mutation	SNP	G	T	T			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50659489G>T	uc011mnw.1	+	c.1061G>T	c.(1060-1062)CGG>CTG	p.R354L		NM_005448	NP_005439	O95972	BMP15_HUMAN	bone morphogenetic protein 15 precursor	354					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			ovary(2)	2	Ovarian(276;0.236)													0.744186	108.717155	111.041243	32	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50659489	50659489	1483	23	G	T	T	T	507	39	BMP15	1	1
DIAPH2	1730	broad.mit.edu	37	X	96330222	96330222	+	Missense_Mutation	SNP	G	C	C			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:96330222G>C	uc004efu.3	+	c.2209G>C	c.(2209-2211)GAG>CAG	p.E737Q	DIAPH2_uc004eft.3_Missense_Mutation_p.E737Q	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	737	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4														0.722222	48.583262	49.382947	13	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96330222	96330222	4698	23	G	C	C	C	533	41	DIAPH2	3	3
OR10G9	219870	broad.mit.edu	37	11	123893833	123893833	+	Frame_Shift_Del	DEL	G	-	-			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123893833_123893833delG	uc010sad.1	+	c.114_114delG	c.(112-114)CTGfs	p.L38fs		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)										0.61			237	149		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	123893833	123893833	11310	11	G	-	-	-	600	47	OR10G9	5	5
MYH13	8735	broad.mit.edu	37	17	10213124	10213124	+	Frame_Shift_Del	DEL	G	-	-			TCGA-55-1596-01	TCGA-55-1596-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10213124_10213124delG	uc002gmk.1	-	c.4680_4680delC	c.(4678-4680)AGCfs	p.S1560fs		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1560	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.62			5	3		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	10213124	10213124	10427	17	G	-	-	-	594	46	MYH13	5	5
